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 1 93998534 93998534 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr1:93998534G>A c.695G>A c.(694-696)gGa>gAa p.G232E BLCA 1 93998614 93998614 + Missense_Mutation SNP G G C TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr1:93998614G>C c.775G>C c.(775-777)Gat>Cat p.D259H BLCA 1 94016644 94016644 + Missense_Mutation SNP C C G TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr1:94016644C>G c.1792C>G c.(1792-1794)Cta>Gta p.L598V BRCA 1 93989865 93989865 + Missense_Mutation SNP G G C TCGA-A2-A0YK-01A-22D-A117-09 TCGA-A2-A0YK-10A-01D-A117-09 g.chr1:93989865G>C c.390G>C c.(388-390)tgG>tgC p.W130C BRCA 1 93998592 93998592 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr1:93998592G>C c.753G>C c.(751-753)atG>atC p.M251I BRCA 1 94009670 94009670 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr1:94009670G>A c.1171G>A c.(1171-1173)Gca>Aca p.A391T BRCA 1 94016635 94016635 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:94016635G>A c.1783G>A c.(1783-1785)Gat>Aat p.D595N CESC 1 93988993 93988993 + Missense_Mutation SNP G G T TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr1:93988993G>T c.287G>T c.(286-288)aGa>aTa p.R96I COAD 1 93965033 93965033 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:93965033C>T c.33C>T c.(31-33)ttC>ttT p.F11F COAD 1 93988962 93988962 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:93988962C>T c.256C>T c.(256-258)Cga>Tga p.R86* COAD 1 94000299 94000299 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:94000299T>G c.824T>G c.(823-825)tTt>tGt p.F275C COAD 1 94009667 94009667 + Missense_Mutation SNP C C A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:94009667C>A c.1168C>A c.(1168-1170)Cca>Aca p.P390T COAD 1 94012483 94012483 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:94012483G>A c.1359G>A c.(1357-1359)gaG>gaA p.E453E COAD 1 94012505 94012505 + Missense_Mutation SNP C C A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:94012505C>A c.1381C>A c.(1381-1383)Cta>Ata p.L461I COADREAD 1 93965033 93965033 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:93965033C>T c.33C>T c.(31-33)ttC>ttT p.F11F COADREAD 1 93988962 93988962 + Nonsense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:93988962C>T c.256C>T c.(256-258)Cga>Tga p.R86* COADREAD 1 94000299 94000299 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:94000299T>G c.824T>G c.(823-825)tTt>tGt p.F275C COADREAD 1 94000447 94000447 + Silent SNP C C T TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr1:94000447C>T c.972C>T c.(970-972)ctC>ctT p.L324L COADREAD 1 94009667 94009667 + Missense_Mutation SNP C C A TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:94009667C>A c.1168C>A c.(1168-1170)Cca>Aca p.P390T COADREAD 1 94012483 94012483 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:94012483G>A c.1359G>A c.(1357-1359)gaG>gaA p.E453E COADREAD 1 94012505 94012505 + Missense_Mutation SNP C C A TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:94012505C>A c.1381C>A c.(1381-1383)Cta>Ata p.L461I ESCA 1 93988967 93988967 + Missense_Mutation SNP A A C TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr1:93988967A>C c.261A>C c.(259-261)gaA>gaC p.E87D GBMLGG 1 94016649 94016649 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:94016649G>T c.1797G>T c.(1795-1797)gaG>gaT p.E599D KIPAN 1 93965136 93965136 + Missense_Mutation SNP T T A TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr1:93965136T>A c.136T>A c.(136-138)Ttg>Atg p.L46M KIPAN 1 93987691 93987691 + Splice_Site SNP C C T TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr1:93987691C>T c.193C>T c.(193-195)Cgg>Tgg p.R65W KIPAN 1 93987691 93987691 + Splice_Site SNP C C T TCGA-BP-4161-01A-02D-1386-10 TCGA-BP-4161-11A-01D-1251-10 g.chr1:93987691C>T c.193C>T c.(193-195)Cgg>Tgg p.R65W KIPAN 1 94009756 94009756 + Silent SNP G G A TCGA-J7-8537-01A-11D-2396-08 TCGA-J7-8537-10A-01D-2396-08 g.chr1:94009756G>A c.1257G>A c.(1255-1257)caG>caA p.Q419Q KIRC 1 93987691 93987691 + Splice_Site SNP C C T TCGA-B0-5096-01A-01D-1421-08 TCGA-B0-5096-11A-01D-1421-08 g.chr1:93987691C>T c.193C>T c.(193-195)Cgg>Tgg p.R65W KIRC 1 93987691 93987691 + Splice_Site SNP C C T TCGA-BP-4161-01A-02D-1386-10 TCGA-BP-4161-11A-01D-1251-10 g.chr1:93987691C>T c.193C>T c.(193-195)Cgg>Tgg p.R65W KIRP 1 93965136 93965136 + Missense_Mutation SNP T T A TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr1:93965136T>A c.136T>A c.(136-138)Ttg>Atg p.L46M KIRP 1 94009756 94009756 + Silent SNP G G A TCGA-J7-8537-01A-11D-2396-08 TCGA-J7-8537-10A-01D-2396-08 g.chr1:94009756G>A c.1257G>A c.(1255-1257)caG>caA p.Q419Q LGG 1 94016649 94016649 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:94016649G>T c.1797G>T c.(1795-1797)gaG>gaT p.E599D LIHC 1 94012443 94012443 + Missense_Mutation SNP A A T TCGA-DD-AAD8-01A-11D-A40R-10 TCGA-DD-AAD8-10A-01D-A40U-10 g.chr1:94012443A>T c.1319A>T c.(1318-1320)cAa>cTa p.Q440L LUAD 1 93965084 93965084 + Nonsense_Mutation SNP T T A TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr1:93965084T>A c.84T>A c.(82-84)taT>taA p.Y28* LUAD 1 93998519 93998519 + Missense_Mutation SNP G G C TCGA-17-Z060-01A-01W-0747-08 TCGA-17-Z060-11A-01W-0747-08 g.chr1:93998519G>C c.680G>C c.(679-681)aGt>aCt p.S227T LUAD 1 94000394 94000394 + Missense_Mutation SNP G G T TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr1:94000394G>T c.919G>T c.(919-921)Ggg>Tgg p.G307W LUAD 1 94014886 94014886 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 g.chr1:94014886C>T c.1554C>T c.(1552-1554)ccC>ccT p.P518P LUAD 1 94014920 94014920 + Missense_Mutation SNP G G A TCGA-05-4396-01A-21D-1855-08 TCGA-05-4396-10A-01D-1855-08 g.chr1:94014920G>A c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K LUAD 1 94014930 94014930 + Missense_Mutation SNP A A C TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr1:94014930A>C c.1598A>C c.(1597-1599)gAt>gCt p.D533A PAAD 1 93998513 93998513 + Missense_Mutation SNP A A C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:93998513A>C c.674A>C c.(673-675)aAa>aCa p.K225T PAAD 1 93998540 93998540 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:93998540C>A c.701C>A c.(700-702)gCt>gAt p.A234D PRAD 1 94000419 94000419 + Frame_Shift_Del DEL T T - TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 g.chr1:94000419delT c.944delT c.(943-945)gtafs p.V315fs READ 1 94000447 94000447 + Silent SNP C C T TCGA-AG-3881-01A-01W-0899-10 TCGA-AG-3881-10A-01W-0901-10 g.chr1:94000447C>T c.972C>T c.(970-972)ctC>ctT p.L324L SKCM 1 93987662 93987662 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:93987662C>T c.164C>T c.(163-165)cCc>cTc p.P55L SKCM 1 93988993 93988993 + Missense_Mutation SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:93988993G>A c.287G>A c.(286-288)aGa>aAa p.R96K SKCM 1 93996314 93996314 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr1:93996314C>T c.513C>T c.(511-513)gcC>gcT p.A171A SKCM 1 94012481 94012481 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr1:94012481G>A c.1357G>A c.(1357-1359)Gag>Aag p.E453K SKCM 1 94014865 94014865 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:94014865C>T c.1533C>T c.(1531-1533)aaC>aaT p.N511N SKCM 1 94016545 94016545 + Missense_Mutation SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr1:94016545C>T c.1693C>T c.(1693-1695)Ctc>Ttc p.L565F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 1 93995308 93995308 single base substitution G A missense_variant E14K 40G>A ALL-US 1 93995308 93995308 single base substitution G A missense_variant E169K 505G>A BRCA-EU 1 93909589 93909589 single base substitution G A upstream_gene_variant BRCA-EU 1 93912037 93912037 single base substitution A G upstream_gene_variant BRCA-EU 1 93912053 93912053 single base substitution G A upstream_gene_variant BRCA-EU 1 93912244 93912244 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 93912657 93912657 single base substitution A T upstream_gene_variant BRCA-EU 1 93913702 93913702 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 93913702 93913702 single base substitution G A upstream_gene_variant BRCA-EU 1 93916310 93916310 single base substitution G C intron_variant BRCA-EU 1 93917382 93917387 multiple base substitution (>=2bp and <=200bp) TATTTT TA intron_variant BRCA-EU 1 93917388 93917388 single base substitution T A intron_variant BRCA-EU 1 93919452 93919452 single base substitution G C intron_variant BRCA-EU 1 93919767 93919767 single base substitution G C intron_variant BRCA-EU 1 93921408 93921408 single base substitution C T intron_variant BRCA-EU 1 93921421 93921421 single base substitution T G intron_variant BRCA-EU 1 93923661 93923661 single base substitution C G intron_variant BRCA-EU 1 93926086 93926086 single base substitution T C intron_variant BRCA-EU 1 93926293 93926293 single base substitution C T intron_variant BRCA-EU 1 93927137 93927137 single base substitution A G intron_variant BRCA-EU 1 93927337 93927337 single base substitution T A intron_variant BRCA-EU 1 93927351 93927352 deletion of <=200bp AT - intron_variant BRCA-EU 1 93927835 93927835 deletion of <=200bp T - intron_variant BRCA-EU 1 93929253 93929253 single base substitution T G intron_variant BRCA-EU 1 93930342 93930342 single base substitution T G intron_variant BRCA-EU 1 93931043 93931043 single base substitution G C intron_variant BRCA-EU 1 93932610 93932610 single base substitution C T intron_variant BRCA-EU 1 93932950 93932950 single base substitution G A intron_variant BRCA-EU 1 93934541 93934541 single base substitution A T intron_variant BRCA-EU 1 93935208 93935208 single base substitution T C intron_variant BRCA-EU 1 93936251 93936251 single base substitution G A intron_variant BRCA-EU 1 93937469 93937469 deletion of <=200bp G - intron_variant BRCA-EU 1 93938452 93938452 single base substitution G A intron_variant BRCA-EU 1 93939515 93939515 single base substitution G C intron_variant BRCA-EU 1 93939658 93939658 single base substitution G A intron_variant BRCA-EU 1 93941176 93941176 single base substitution C G intron_variant BRCA-EU 1 93942395 93942395 single base substitution G A intron_variant BRCA-EU 1 93943951 93943951 single base substitution A T intron_variant BRCA-EU 1 93944552 93944552 single base substitution C T intron_variant BRCA-EU 1 93945608 93945608 single base substitution A G intron_variant BRCA-EU 1 93946801 93946801 deletion of <=200bp T - intron_variant BRCA-EU 1 93947211 93947211 single base substitution G A intron_variant BRCA-EU 1 93947917 93947917 single base substitution C G intron_variant BRCA-EU 1 93948075 93948075 single base substitution C G intron_variant BRCA-EU 1 93948647 93948647 single base substitution G T intron_variant BRCA-EU 1 93949001 93949001 single base substitution A G intron_variant BRCA-EU 1 93951118 93951118 single base substitution T C intron_variant BRCA-EU 1 93951441 93951441 single base substitution G T intron_variant BRCA-EU 1 93952516 93952516 single base substitution C A intron_variant BRCA-EU 1 93953068 93953068 single base substitution G A intron_variant BRCA-EU 1 93953972 93953972 single base substitution C G intron_variant BRCA-EU 1 93955104 93955104 single base substitution C G intron_variant BRCA-EU 1 93955707 93955707 single base substitution A C intron_variant BRCA-EU 1 93956386 93956386 single base substitution C T intron_variant BRCA-EU 1 93958137 93958137 single base substitution G C intron_variant BRCA-EU 1 93959269 93959269 single base substitution G A intron_variant BRCA-EU 1 93961702 93961702 single base substitution C T intron_variant BRCA-EU 1 93963333 93963333 single base substitution C T intron_variant BRCA-EU 1 93967051 93967051 single base substitution C G intron_variant BRCA-EU 1 93967662 93967662 single base substitution A G intron_variant BRCA-EU 1 93968835 93968835 single base substitution C T intron_variant BRCA-EU 1 93968909 93968909 single base substitution C T intron_variant BRCA-EU 1 93970542 93970542 single base substitution G C intron_variant BRCA-EU 1 93971145 93971145 single base substitution A G intron_variant BRCA-EU 1 93971798 93971798 single base substitution T G intron_variant BRCA-EU 1 93971892 93971892 single base substitution C T intron_variant BRCA-EU 1 93972186 93972186 insertion of <=200bp - C intron_variant BRCA-EU 1 93972584 93972584 single base substitution A T intron_variant BRCA-EU 1 93975181 93975181 single base substitution G C intron_variant BRCA-EU 1 93975863 93975863 single base substitution C A intron_variant BRCA-EU 1 93976813 93976813 single base substitution C T intron_variant BRCA-EU 1 93981116 93981116 single base substitution T C intron_variant BRCA-EU 1 93981845 93981845 single base substitution G A intron_variant BRCA-EU 1 93981921 93981921 deletion of <=200bp G - intron_variant BRCA-EU 1 93982460 93982460 single base substitution C A intron_variant BRCA-EU 1 93983317 93983317 single base substitution T A intron_variant BRCA-EU 1 93984617 93984617 deletion of <=200bp A - intron_variant BRCA-EU 1 93984641 93984641 single base substitution T A intron_variant BRCA-EU 1 93985690 93985690 single base substitution A T intron_variant BRCA-EU 1 93985708 93985708 single base substitution A C intron_variant BRCA-EU 1 93986957 93986957 insertion of <=200bp - A intron_variant BRCA-EU 1 93988874 93988874 single base substitution C G intron_variant BRCA-EU 1 93990111 93990111 single base substitution C G intron_variant BRCA-EU 1 93991266 93991266 single base substitution G C intron_variant BRCA-EU 1 93991266 93991266 single base substitution G C upstream_gene_variant BRCA-EU 1 93992442 93992442 single base substitution A C intron_variant BRCA-EU 1 93992442 93992442 single base substitution A C upstream_gene_variant BRCA-EU 1 93992821 93992821 single base substitution A G intron_variant BRCA-EU 1 93992821 93992821 single base substitution A G upstream_gene_variant BRCA-EU 1 93993251 93993251 single base substitution T A intron_variant BRCA-EU 1 93993251 93993251 single base substitution T A upstream_gene_variant BRCA-EU 1 93994910 93994910 single base substitution T G intron_variant BRCA-EU 1 93994910 93994910 single base substitution T G upstream_gene_variant BRCA-EU 1 93996568 93996568 single base substitution T C intron_variant BRCA-EU 1 93999949 93999949 single base substitution T C intron_variant BRCA-EU 1 94000388 94000388 single base substitution G C missense_variant E150Q 448G>C BRCA-EU 1 94000388 94000388 single base substitution G C missense_variant E305Q 913G>C BRCA-EU 1 94000399 94000399 single base substitution G A synonymous_variant K153K 459G>A BRCA-EU 1 94000399 94000399 single base substitution G A synonymous_variant K308K 924G>A BRCA-EU 1 94000452 94000452 single base substitution G A missense_variant G171E 512G>A BRCA-EU 1 94000452 94000452 single base substitution G A missense_variant G326E 977G>A BRCA-EU 1 94000787 94000787 single base substitution A T intron_variant BRCA-EU 1 94000807 94000810 deletion of <=200bp GAAT - intron_variant BRCA-EU 1 94003013 94003013 single base substitution G A intron_variant BRCA-EU 1 94004221 94004221 single base substitution G C intron_variant BRCA-EU 1 94005545 94005545 single base substitution A G intron_variant BRCA-EU 1 94005545 94005545 single base substitution A G upstream_gene_variant BRCA-EU 1 94006001 94006001 single base substitution G C intron_variant BRCA-EU 1 94006001 94006001 single base substitution G C upstream_gene_variant BRCA-EU 1 94007302 94007302 single base substitution G T intron_variant BRCA-EU 1 94007302 94007302 single base substitution G T upstream_gene_variant BRCA-EU 1 94009255 94009255 single base substitution A G intron_variant BRCA-EU 1 94009255 94009255 single base substitution A G upstream_gene_variant BRCA-EU 1 94011710 94011710 single base substitution G T intron_variant BRCA-EU 1 94011762 94011762 single base substitution G T intron_variant BRCA-EU 1 94012828 94012828 single base substitution A G intron_variant BRCA-EU 1 94013366 94013366 insertion of <=200bp - A intron_variant BRCA-EU 1 94017572 94017572 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 94017572 94017572 single base substitution T C downstream_gene_variant BRCA-EU 1 94017572 94017572 single base substitution T C intron_variant BRCA-EU 1 94018372 94018372 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 94018372 94018372 single base substitution C T downstream_gene_variant BRCA-EU 1 94019008 94019008 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 94019008 94019008 single base substitution A T downstream_gene_variant BRCA-EU 1 94019794 94019796 deletion of <=200bp GAG - 3_prime_UTR_variant BRCA-EU 1 94019794 94019796 deletion of <=200bp GAG - downstream_gene_variant BRCA-EU 1 94019873 94019873 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 94019873 94019873 single base substitution G C downstream_gene_variant BRCA-EU 1 94020337 94020337 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 94021922 94021922 single base substitution C G downstream_gene_variant BRCA-EU 1 94021924 94021924 single base substitution A G downstream_gene_variant BRCA-EU 1 94023675 94023675 single base substitution C G downstream_gene_variant BRCA-EU 1 94023776 94023776 single base substitution A G downstream_gene_variant BRCA-EU 1 94025019 94025019 single base substitution A C downstream_gene_variant BRCA-EU 1 94025034 94025034 single base substitution C T downstream_gene_variant BRCA-FR 1 93909589 93909589 single base substitution G A upstream_gene_variant BRCA-FR 1 93912164 93912164 single base substitution T C upstream_gene_variant BRCA-FR 1 93919452 93919452 single base substitution G C intron_variant BRCA-FR 1 93921706 93921706 single base substitution T G intron_variant BRCA-FR 1 93927137 93927137 single base substitution A G intron_variant BRCA-FR 1 93932610 93932610 single base substitution C T intron_variant BRCA-FR 1 93949910 93949910 single base substitution G T intron_variant BRCA-FR 1 93953068 93953068 single base substitution G A intron_variant BRCA-FR 1 93962272 93962272 single base substitution G A intron_variant BRCA-FR 1 93965129 93965129 single base substitution G A synonymous_variant A43A 129G>A BRCA-FR 1 93975181 93975181 single base substitution G C intron_variant BRCA-FR 1 93991266 93991266 single base substitution G C intron_variant BRCA-FR 1 93991266 93991266 single base substitution G C upstream_gene_variant BRCA-FR 1 93993251 93993251 single base substitution T A intron_variant BRCA-FR 1 93993251 93993251 single base substitution T A upstream_gene_variant BRCA-FR 1 93993297 93993297 single base substitution G A intron_variant BRCA-FR 1 93993297 93993297 single base substitution G A upstream_gene_variant BRCA-FR 1 93996568 93996568 single base substitution T C intron_variant BRCA-FR 1 94024929 94024929 single base substitution G A downstream_gene_variant BRCA-UK 1 93912037 93912037 single base substitution A G upstream_gene_variant BRCA-UK 1 93912053 93912053 single base substitution G A upstream_gene_variant BRCA-UK 1 93912541 93912541 single base substitution G A upstream_gene_variant BRCA-UK 1 93919767 93919767 single base substitution G C intron_variant BRCA-UK 1 93971976 93971976 single base substitution G C intron_variant BRCA-UK 1 93981083 93981083 single base substitution T C intron_variant BRCA-UK 1 93981116 93981116 single base substitution T C intron_variant BRCA-UK 1 93982460 93982460 single base substitution C A intron_variant BRCA-UK 1 93990851 93990851 single base substitution C A intron_variant BRCA-UK 1 93990851 93990851 single base substitution C A upstream_gene_variant BRCA-US 1 93989865 93989865 single base substitution G C missense_variant W130C 390G>C BRCA-US 1 93998592 93998592 single base substitution G C missense_variant M251I 753G>C BRCA-US 1 93998592 93998592 single base substitution G C missense_variant M96I 288G>C BRCA-US 1 94009670 94009670 single base substitution G A exon_variant BRCA-US 1 94009670 94009670 single base substitution G A missense_variant A236T 706G>A BRCA-US 1 94009670 94009670 single base substitution G A missense_variant A333T 997G>A BRCA-US 1 94009670 94009670 single base substitution G A missense_variant A386T 1156G>A BRCA-US 1 94009670 94009670 single base substitution G A missense_variant A391T 1171G>A BRCA-US 1 94016635 94016635 single base substitution G A downstream_gene_variant BRCA-US 1 94016635 94016635 single base substitution G A missense_variant D440N 1318G>A BRCA-US 1 94016635 94016635 single base substitution G A missense_variant D537N 1609G>A BRCA-US 1 94016635 94016635 single base substitution G A missense_variant D590N 1768G>A BRCA-US 1 94016635 94016635 single base substitution G A missense_variant D595N 1783G>A BTCA-JP 1 93964968 93964968 single base substitution A T intron_variant BTCA-JP 1 93965008 93965008 single base substitution T G intron_variant BTCA-JP 1 93998501 93998501 single base substitution G A missense_variant R221Q 662G>A BTCA-JP 1 93998501 93998501 single base substitution G A missense_variant R66Q 197G>A BTCA-JP 1 94001888 94001888 single base substitution G A intron_variant BTCA-JP 1 94001888 94001888 single base substitution G A splice_acceptor_variant BTCA-JP 1 94009525 94009525 deletion of <=200bp T - exon_variant BTCA-JP 1 94009525 94009525 deletion of <=200bp T - intron_variant BTCA-JP 1 94012890 94012890 insertion of <=200bp - T intron_variant CESC-US 1 93988993 93988993 single base substitution G T missense_variant R96I 287G>T CLLE-ES 1 93939340 93939340 single base substitution A C intron_variant CLLE-ES 1 93952991 93952991 single base substitution A C intron_variant CLLE-ES 1 93989396 93989396 single base substitution T G intron_variant CLLE-ES 1 94017970 94017970 single base substitution C T 3_prime_UTR_variant CLLE-ES 1 94017970 94017970 single base substitution C T downstream_gene_variant CLLE-ES 1 94017970 94017970 single base substitution C T synonymous_variant S450S 1350C>T CLLE-ES 1 94017970 94017970 single base substitution C T synonymous_variant S547S 1641C>T CLLE-ES 1 94017970 94017970 single base substitution C T synonymous_variant S600S 1800C>T CLLE-ES 1 94017970 94017970 single base substitution C T synonymous_variant S605S 1815C>T COAD-US 1 94000299 94000299 single base substitution T G missense_variant F120C 359T>G COAD-US 1 94000299 94000299 single base substitution T G missense_variant F275C 824T>G COAD-US 1 94012505 94012505 single base substitution C A exon_variant COAD-US 1 94012505 94012505 single base substitution C A missense_variant L306I 916C>A COAD-US 1 94012505 94012505 single base substitution C A missense_variant L403I 1207C>A COAD-US 1 94012505 94012505 single base substitution C A missense_variant L456I 1366C>A COAD-US 1 94012505 94012505 single base substitution C A missense_variant L461I 1381C>A COCA-CN 1 93965033 93965033 single base substitution C T synonymous_variant F11F 33C>T COCA-CN 1 93975832 93975832 single base substitution T A intron_variant EOPC-DE 1 93914692 93914692 single base substitution C T intron_variant EOPC-DE 1 93935699 93935699 single base substitution A C intron_variant EOPC-DE 1 93957719 93957719 single base substitution T A intron_variant ESAD-UK 1 93909880 93909880 single base substitution A T upstream_gene_variant ESAD-UK 1 93914206 93914206 single base substitution G T intron_variant ESAD-UK 1 93914908 93914908 single base substitution G T intron_variant ESAD-UK 1 93916824 93916824 deletion of <=200bp T - intron_variant ESAD-UK 1 93916824 93916824 insertion of <=200bp - T intron_variant ESAD-UK 1 93917323 93917323 single base substitution C G intron_variant ESAD-UK 1 93918271 93918271 single base substitution C A intron_variant ESAD-UK 1 93920251 93920251 single base substitution C T intron_variant ESAD-UK 1 93922771 93922771 single base substitution T C intron_variant ESAD-UK 1 93926267 93926267 single base substitution C A intron_variant ESAD-UK 1 93926421 93926421 single base substitution G A intron_variant ESAD-UK 1 93926592 93926592 single base substitution G A intron_variant ESAD-UK 1 93929673 93929673 single base substitution C T intron_variant ESAD-UK 1 93930546 93930546 single base substitution A C intron_variant ESAD-UK 1 93936393 93936393 single base substitution G T intron_variant ESAD-UK 1 93938214 93938214 insertion of <=200bp - A intron_variant ESAD-UK 1 93939017 93939017 single base substitution C G intron_variant ESAD-UK 1 93939427 93939427 single base substitution C G intron_variant ESAD-UK 1 93941901 93941901 single base substitution A C intron_variant ESAD-UK 1 93942085 93942085 single base substitution G A intron_variant ESAD-UK 1 93942955 93942955 single base substitution C T intron_variant ESAD-UK 1 93943318 93943318 single base substitution A G intron_variant ESAD-UK 1 93944375 93944375 single base substitution T G intron_variant ESAD-UK 1 93946605 93946605 insertion of <=200bp - A intron_variant ESAD-UK 1 93946801 93946801 deletion of <=200bp T - intron_variant ESAD-UK 1 93947363 93947363 single base substitution A G intron_variant ESAD-UK 1 93947393 93947393 single base substitution G A intron_variant ESAD-UK 1 93952533 93952533 single base substitution G A intron_variant ESAD-UK 1 93952881 93952881 single base substitution C A intron_variant ESAD-UK 1 93952926 93952926 single base substitution A T intron_variant ESAD-UK 1 93954531 93954531 single base substitution G A intron_variant ESAD-UK 1 93954531 93954531 single base substitution G T intron_variant ESAD-UK 1 93955998 93955998 single base substitution T G intron_variant ESAD-UK 1 93957672 93957672 single base substitution T G intron_variant ESAD-UK 1 93959566 93959566 single base substitution G A intron_variant ESAD-UK 1 93961921 93961921 single base substitution C T intron_variant ESAD-UK 1 93962577 93962577 single base substitution G A intron_variant ESAD-UK 1 93967111 93967111 single base substitution A G intron_variant ESAD-UK 1 93969420 93969420 single base substitution T C intron_variant ESAD-UK 1 93969707 93969707 single base substitution G T intron_variant ESAD-UK 1 93970031 93970031 single base substitution G T intron_variant ESAD-UK 1 93970542 93970542 single base substitution G A intron_variant ESAD-UK 1 93971359 93971359 single base substitution C T intron_variant ESAD-UK 1 93971788 93971788 single base substitution G A intron_variant ESAD-UK 1 93972189 93972189 single base substitution C T intron_variant ESAD-UK 1 93973663 93973663 single base substitution G T intron_variant ESAD-UK 1 93973987 93973987 single base substitution G A intron_variant ESAD-UK 1 93976442 93976442 single base substitution C T intron_variant ESAD-UK 1 93981378 93981378 single base substitution G T intron_variant ESAD-UK 1 93983280 93983280 single base substitution G A intron_variant ESAD-UK 1 93987540 93987540 single base substitution C T intron_variant ESAD-UK 1 93989144 93989144 single base substitution G T intron_variant ESAD-UK 1 93991511 93991511 single base substitution C G intron_variant ESAD-UK 1 93991511 93991511 single base substitution C G upstream_gene_variant ESAD-UK 1 93996275 93996275 single base substitution T A intron_variant ESAD-UK 1 93999500 93999500 single base substitution G T intron_variant ESAD-UK 1 94000228 94000228 single base substitution G C intron_variant ESAD-UK 1 94005077 94005077 single base substitution C G intron_variant ESAD-UK 1 94005077 94005077 single base substitution C G upstream_gene_variant ESAD-UK 1 94007286 94007286 single base substitution T C intron_variant ESAD-UK 1 94007286 94007286 single base substitution T C upstream_gene_variant ESAD-UK 1 94007572 94007572 single base substitution C A intron_variant ESAD-UK 1 94007572 94007572 single base substitution C A upstream_gene_variant ESAD-UK 1 94008488 94008488 single base substitution G A intron_variant ESAD-UK 1 94008488 94008488 single base substitution G A upstream_gene_variant ESAD-UK 1 94009016 94009016 single base substitution A T intron_variant ESAD-UK 1 94009016 94009016 single base substitution A T upstream_gene_variant ESAD-UK 1 94012734 94012734 insertion of <=200bp - T intron_variant ESAD-UK 1 94014882 94014882 single base substitution C T downstream_gene_variant ESAD-UK 1 94014882 94014882 single base substitution C T missense_variant P362L 1085C>T ESAD-UK 1 94014882 94014882 single base substitution C T missense_variant P459L 1376C>T ESAD-UK 1 94014882 94014882 single base substitution C T missense_variant P512L 1535C>T ESAD-UK 1 94014882 94014882 single base substitution C T missense_variant P517L 1550C>T ESAD-UK 1 94017805 94017805 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 94017805 94017805 single base substitution G T downstream_gene_variant ESAD-UK 1 94017805 94017805 single base substitution G T intron_variant ESAD-UK 1 94019225 94019225 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 94019225 94019225 single base substitution A G downstream_gene_variant ESAD-UK 1 94021040 94021040 single base substitution A C downstream_gene_variant ESAD-UK 1 94021486 94021486 single base substitution A C downstream_gene_variant ESCA-CN 1 93965119 93965119 single base substitution A T missense_variant Q40L 119A>T ESCA-CN 1 94014938 94014938 single base substitution C A downstream_gene_variant ESCA-CN 1 94014938 94014938 single base substitution C A missense_variant P381T 1141C>A ESCA-CN 1 94014938 94014938 single base substitution C A missense_variant P478T 1432C>A ESCA-CN 1 94014938 94014938 single base substitution C A missense_variant P531T 1591C>A ESCA-CN 1 94014938 94014938 single base substitution C A missense_variant P536T 1606C>A ESCA-CN 1 94019968 94019968 single base substitution A G 3_prime_UTR_variant ESCA-CN 1 94019968 94019968 single base substitution A G downstream_gene_variant KIRC-US 1 93987691 93987691 single base substitution C T missense_variant R65W 193C>T KIRP-US 1 93965136 93965136 single base substitution T A missense_variant L46M 136T>A KIRP-US 1 93996339 93996339 single base substitution C T missense_variant H180Y 538C>T KIRP-US 1 93996339 93996339 single base substitution C T missense_variant H25Y 73C>T KIRP-US 1 94009756 94009756 single base substitution G A exon_variant KIRP-US 1 94009756 94009756 single base substitution G A synonymous_variant Q264Q 792G>A KIRP-US 1 94009756 94009756 single base substitution G A synonymous_variant Q361Q 1083G>A KIRP-US 1 94009756 94009756 single base substitution G A synonymous_variant Q414Q 1242G>A KIRP-US 1 94009756 94009756 single base substitution G A synonymous_variant Q419Q 1257G>A LICA-FR 1 93922383 93922383 single base substitution C A intron_variant LICA-FR 1 93925486 93925486 single base substitution T G intron_variant LICA-FR 1 93934393 93934393 single base substitution A G intron_variant LICA-FR 1 93948598 93948598 single base substitution C A intron_variant LICA-FR 1 93950318 93950318 single base substitution A G intron_variant LICA-FR 1 93968682 93968682 single base substitution A G intron_variant LICA-FR 1 93975893 93975893 single base substitution C A intron_variant LICA-FR 1 93977591 93977591 single base substitution G A intron_variant LICA-FR 1 93979730 93979730 single base substitution C G intron_variant LICA-FR 1 94009525 94009525 insertion of <=200bp - T exon_variant LICA-FR 1 94009525 94009525 insertion of <=200bp - T intron_variant LICA-FR 1 94021317 94021317 deletion of <=200bp A - downstream_gene_variant LICA-FR 1 94021317 94021318 deletion of <=200bp AA - downstream_gene_variant LINC-JP 1 93911636 93911636 single base substitution G A upstream_gene_variant LINC-JP 1 93925536 93925536 single base substitution T G intron_variant LINC-JP 1 93965008 93965008 single base substitution T G intron_variant LINC-JP 1 93966125 93966125 single base substitution G T intron_variant LINC-JP 1 93991761 93991761 single base substitution A T intron_variant LINC-JP 1 93991761 93991761 single base substitution A T upstream_gene_variant LINC-JP 1 94002023 94002023 single base substitution T G intron_variant LINC-JP 1 94002023 94002023 single base substitution T G synonymous_variant P220P 660T>G LINC-JP 1 94002023 94002023 single base substitution T G synonymous_variant P375P 1125T>G LINC-JP 1 94012288 94012288 single base substitution T C intron_variant LINC-JP 1 94014657 94014657 single base substitution A G intron_variant LINC-JP 1 94019666 94019666 single base substitution A G 3_prime_UTR_variant LINC-JP 1 94019666 94019666 single base substitution A G downstream_gene_variant LIRI-JP 1 93912186 93912186 single base substitution T C upstream_gene_variant LIRI-JP 1 93912670 93912670 single base substitution T C upstream_gene_variant LIRI-JP 1 93915844 93915844 single base substitution G A intron_variant LIRI-JP 1 93916739 93916739 single base substitution C A intron_variant LIRI-JP 1 93918665 93918665 single base substitution T C intron_variant LIRI-JP 1 93919817 93919824 deletion of <=200bp GGAACCAG - intron_variant LIRI-JP 1 93923666 93923666 single base substitution A G intron_variant LIRI-JP 1 93924496 93924496 single base substitution G A intron_variant LIRI-JP 1 93929544 93929544 single base substitution C A intron_variant LIRI-JP 1 93929746 93929746 single base substitution A C intron_variant LIRI-JP 1 93929847 93929847 single base substitution T G intron_variant LIRI-JP 1 93932169 93932169 single base substitution G A intron_variant LIRI-JP 1 93933370 93933370 single base substitution G A intron_variant LIRI-JP 1 93934237 93934237 single base substitution C T intron_variant LIRI-JP 1 93934735 93934735 single base substitution T A intron_variant LIRI-JP 1 93937699 93937699 single base substitution T C intron_variant LIRI-JP 1 93939890 93939890 single base substitution A G intron_variant LIRI-JP 1 93942876 93942876 single base substitution A G intron_variant LIRI-JP 1 93943740 93943740 single base substitution A C intron_variant LIRI-JP 1 93944773 93944773 single base substitution A G intron_variant LIRI-JP 1 93946943 93946943 single base substitution A G intron_variant LIRI-JP 1 93949202 93949202 single base substitution A G intron_variant LIRI-JP 1 93949829 93949829 single base substitution T C intron_variant LIRI-JP 1 93951938 93951938 single base substitution T C intron_variant LIRI-JP 1 93952740 93952740 single base substitution C T intron_variant LIRI-JP 1 93953645 93953645 single base substitution T G intron_variant LIRI-JP 1 93954366 93954366 single base substitution A C intron_variant LIRI-JP 1 93956277 93956279 deletion of <=200bp TTC - intron_variant LIRI-JP 1 93960398 93960398 single base substitution A G intron_variant LIRI-JP 1 93962148 93962148 single base substitution A G intron_variant LIRI-JP 1 93964306 93964313 deletion of <=200bp GTAGGACA - intron_variant LIRI-JP 1 93967377 93967377 single base substitution A G intron_variant LIRI-JP 1 93969046 93969046 single base substitution A G intron_variant LIRI-JP 1 93969656 93969656 single base substitution A G intron_variant LIRI-JP 1 93970094 93970094 single base substitution A G intron_variant LIRI-JP 1 93971010 93971010 single base substitution G A intron_variant LIRI-JP 1 93971012 93971012 single base substitution C T intron_variant LIRI-JP 1 93972798 93972798 single base substitution G A intron_variant LIRI-JP 1 93973168 93973168 single base substitution C T intron_variant LIRI-JP 1 93973227 93973227 single base substitution A G intron_variant LIRI-JP 1 93974944 93974944 single base substitution G A intron_variant LIRI-JP 1 93974954 93974954 single base substitution C T intron_variant LIRI-JP 1 93979686 93979686 single base substitution G A intron_variant LIRI-JP 1 93980251 93980251 single base substitution C T intron_variant LIRI-JP 1 93983400 93983400 deletion of <=200bp G - intron_variant LIRI-JP 1 93986338 93986338 single base substitution G T intron_variant LIRI-JP 1 93987019 93987019 single base substitution G A intron_variant LIRI-JP 1 93988058 93988058 single base substitution A G intron_variant LIRI-JP 1 93988316 93988316 single base substitution A G intron_variant LIRI-JP 1 93988731 93988731 single base substitution A G intron_variant LIRI-JP 1 93991017 93991017 single base substitution T C intron_variant LIRI-JP 1 93991017 93991017 single base substitution T C upstream_gene_variant LIRI-JP 1 93991398 93991398 single base substitution A T intron_variant LIRI-JP 1 93991398 93991398 single base substitution A T upstream_gene_variant LIRI-JP 1 93991911 93991911 single base substitution A G intron_variant LIRI-JP 1 93991911 93991911 single base substitution A G upstream_gene_variant LIRI-JP 1 93992576 93992576 single base substitution A G intron_variant LIRI-JP 1 93992576 93992576 single base substitution A G upstream_gene_variant LIRI-JP 1 93996852 93996852 single base substitution T G intron_variant LIRI-JP 1 93998126 93998127 deletion of <=200bp TT - intron_variant LIRI-JP 1 94001252 94001252 insertion of <=200bp - AA intron_variant LIRI-JP 1 94004105 94004105 single base substitution A T intron_variant LIRI-JP 1 94005019 94005019 single base substitution C G intron_variant LIRI-JP 1 94005019 94005019 single base substitution C G upstream_gene_variant LIRI-JP 1 94008890 94008890 single base substitution A G intron_variant LIRI-JP 1 94008890 94008890 single base substitution A G upstream_gene_variant LIRI-JP 1 94009423 94009423 single base substitution C G exon_variant LIRI-JP 1 94009423 94009423 single base substitution C G intron_variant LIRI-JP 1 94010250 94010250 single base substitution A G intron_variant LIRI-JP 1 94011482 94011482 single base substitution A G intron_variant LIRI-JP 1 94011602 94011602 single base substitution T A intron_variant LIRI-JP 1 94013390 94013390 single base substitution G T intron_variant LIRI-JP 1 94015632 94015632 single base substitution T A downstream_gene_variant LIRI-JP 1 94015632 94015632 single base substitution T A intron_variant LIRI-JP 1 94016415 94016415 single base substitution G A downstream_gene_variant LIRI-JP 1 94016415 94016415 single base substitution G A intron_variant LIRI-JP 1 94017077 94017077 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 94017077 94017077 single base substitution A G downstream_gene_variant LIRI-JP 1 94017077 94017077 single base substitution A G intron_variant LIRI-JP 1 94018385 94018385 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 94018385 94018385 single base substitution T A downstream_gene_variant LIRI-JP 1 94018435 94018435 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 1 94018435 94018435 deletion of <=200bp G - downstream_gene_variant LIRI-JP 1 94022473 94022473 single base substitution A T downstream_gene_variant LIRI-JP 1 94022517 94022517 single base substitution T G downstream_gene_variant LIRI-JP 1 94023720 94023720 single base substitution A G downstream_gene_variant LIRI-JP 1 94024582 94024582 single base substitution G A downstream_gene_variant LIRI-JP 1 94024671 94024671 single base substitution T G downstream_gene_variant LIRI-JP 1 94024830 94024830 single base substitution A G downstream_gene_variant LIRI-JP 1 94024899 94024899 single base substitution T C downstream_gene_variant LUSC-KR 1 93911866 93911866 single base substitution C T upstream_gene_variant LUSC-KR 1 93913374 93913374 single base substitution C T upstream_gene_variant LUSC-KR 1 93920805 93920805 single base substitution A G intron_variant LUSC-KR 1 93923870 93923870 single base substitution A G intron_variant LUSC-KR 1 93927000 93927000 single base substitution C T intron_variant LUSC-KR 1 93934953 93934953 single base substitution C G intron_variant LUSC-KR 1 93935647 93935647 single base substitution A T intron_variant LUSC-KR 1 93939888 93939888 single base substitution C T intron_variant LUSC-KR 1 93951260 93951260 single base substitution G T intron_variant LUSC-KR 1 93958619 93958619 single base substitution G A intron_variant LUSC-KR 1 93959234 93959234 single base substitution T C intron_variant LUSC-KR 1 93970594 93970594 single base substitution C G intron_variant LUSC-KR 1 93975893 93975893 single base substitution C A intron_variant LUSC-KR 1 93976074 93976074 single base substitution G A intron_variant LUSC-KR 1 93977623 93977623 single base substitution G C intron_variant LUSC-KR 1 93980001 93980001 single base substitution G T intron_variant LUSC-KR 1 93980047 93980047 single base substitution A G intron_variant LUSC-KR 1 93980061 93980061 single base substitution C T intron_variant LUSC-KR 1 93980312 93980312 single base substitution A G intron_variant LUSC-KR 1 93980698 93980698 single base substitution G C intron_variant LUSC-KR 1 93981950 93981950 single base substitution A G intron_variant LUSC-KR 1 93985860 93985860 single base substitution G T intron_variant LUSC-KR 1 93988635 93988635 single base substitution A G intron_variant LUSC-KR 1 93989098 93989098 single base substitution A T intron_variant LUSC-KR 1 93990706 93990706 single base substitution A T intron_variant LUSC-KR 1 93990706 93990706 single base substitution A T upstream_gene_variant LUSC-KR 1 93991605 93991605 single base substitution A G intron_variant LUSC-KR 1 93991605 93991605 single base substitution A G upstream_gene_variant LUSC-KR 1 94015416 94015416 single base substitution C T downstream_gene_variant LUSC-KR 1 94015416 94015416 single base substitution C T intron_variant LUSC-KR 1 94024076 94024076 single base substitution A T downstream_gene_variant MALY-DE 1 93912207 93912207 single base substitution G A upstream_gene_variant MALY-DE 1 93915945 93915945 single base substitution A G intron_variant MALY-DE 1 93918755 93918755 single base substitution T C intron_variant MALY-DE 1 93919894 93919895 deletion of <=200bp TG - intron_variant MALY-DE 1 93922537 93922537 single base substitution C G intron_variant MALY-DE 1 93923052 93923052 single base substitution T A intron_variant MALY-DE 1 93940785 93940785 single base substitution T C intron_variant MALY-DE 1 93963665 93963665 single base substitution G A intron_variant MALY-DE 1 93965401 93965401 single base substitution A G intron_variant MALY-DE 1 93966553 93966553 single base substitution T C intron_variant MALY-DE 1 93972971 93972971 single base substitution G T intron_variant MALY-DE 1 93988925 93988925 single base substitution T A missense_variant F73L 219T>A MALY-DE 1 93990128 93990128 single base substitution T A intron_variant MALY-DE 1 93990129 93990129 single base substitution A T intron_variant MALY-DE 1 93991982 93991982 single base substitution G A intron_variant MALY-DE 1 93991982 93991982 single base substitution G A upstream_gene_variant MALY-DE 1 94002510 94002510 deletion of <=200bp A - intron_variant MALY-DE 1 94012434 94012434 single base substitution A T exon_variant MALY-DE 1 94012434 94012434 single base substitution A T missense_variant K282M 845A>T MALY-DE 1 94012434 94012434 single base substitution A T missense_variant K379M 1136A>T MALY-DE 1 94012434 94012434 single base substitution A T missense_variant K432M 1295A>T MALY-DE 1 94012434 94012434 single base substitution A T missense_variant K437M 1310A>T MALY-DE 1 94021346 94021346 single base substitution A C downstream_gene_variant MALY-DE 1 94021358 94021358 single base substitution A G downstream_gene_variant MELA-AU 1 93909130 93909130 single base substitution C A upstream_gene_variant MELA-AU 1 93909250 93909250 single base substitution G A upstream_gene_variant MELA-AU 1 93909835 93909835 single base substitution C T upstream_gene_variant MELA-AU 1 93909945 93909945 single base substitution G A upstream_gene_variant MELA-AU 1 93910375 93910375 single base substitution A T upstream_gene_variant MELA-AU 1 93911936 93911936 single base substitution G C upstream_gene_variant MELA-AU 1 93912511 93912511 single base substitution G A upstream_gene_variant MELA-AU 1 93912516 93912516 single base substitution G A upstream_gene_variant MELA-AU 1 93912539 93912539 single base substitution C T upstream_gene_variant MELA-AU 1 93913317 93913317 single base substitution C T upstream_gene_variant MELA-AU 1 93913586 93913586 single base substitution C T upstream_gene_variant MELA-AU 1 93913854 93913854 single base substitution G A missense_variant E6K 16G>A MELA-AU 1 93914862 93914862 single base substitution G A intron_variant MELA-AU 1 93915471 93915471 single base substitution C T intron_variant MELA-AU 1 93915686 93915686 single base substitution G A intron_variant MELA-AU 1 93915896 93915896 single base substitution G A intron_variant MELA-AU 1 93915901 93915901 single base substitution T C intron_variant MELA-AU 1 93916113 93916113 single base substitution C T intron_variant MELA-AU 1 93917769 93917769 single base substitution T G intron_variant MELA-AU 1 93918710 93918710 single base substitution G C intron_variant MELA-AU 1 93919618 93919618 single base substitution C T intron_variant MELA-AU 1 93919893 93919893 single base substitution C G intron_variant MELA-AU 1 93920363 93920363 single base substitution C T intron_variant MELA-AU 1 93921426 93921426 single base substitution C T intron_variant MELA-AU 1 93921460 93921460 single base substitution T G intron_variant MELA-AU 1 93922221 93922221 single base substitution C T intron_variant MELA-AU 1 93922232 93922232 single base substitution G T intron_variant MELA-AU 1 93922279 93922279 single base substitution T C intron_variant MELA-AU 1 93922973 93922974 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 93923023 93923023 single base substitution C T intron_variant MELA-AU 1 93923474 93923474 single base substitution G A intron_variant MELA-AU 1 93923604 93923604 single base substitution C T intron_variant MELA-AU 1 93923641 93923641 single base substitution C T intron_variant MELA-AU 1 93925096 93925096 single base substitution C T intron_variant MELA-AU 1 93925156 93925156 single base substitution C G intron_variant MELA-AU 1 93925670 93925670 single base substitution C T intron_variant MELA-AU 1 93926788 93926788 single base substitution C T intron_variant MELA-AU 1 93927085 93927085 single base substitution C T intron_variant MELA-AU 1 93927712 93927712 single base substitution G A intron_variant MELA-AU 1 93928124 93928124 single base substitution C T intron_variant MELA-AU 1 93928382 93928382 single base substitution C T intron_variant MELA-AU 1 93928463 93928463 single base substitution C T intron_variant MELA-AU 1 93928830 93928830 single base substitution C T intron_variant MELA-AU 1 93928912 93928912 single base substitution C T intron_variant MELA-AU 1 93929056 93929056 single base substitution C T intron_variant MELA-AU 1 93929582 93929582 single base substitution C T intron_variant MELA-AU 1 93929843 93929843 single base substitution G A intron_variant MELA-AU 1 93930083 93930083 single base substitution C T intron_variant MELA-AU 1 93930435 93930435 single base substitution C T intron_variant MELA-AU 1 93930494 93930494 single base substitution C T intron_variant MELA-AU 1 93930908 93930908 single base substitution C T intron_variant MELA-AU 1 93930932 93930932 single base substitution C T intron_variant MELA-AU 1 93931188 93931188 single base substitution C T intron_variant MELA-AU 1 93931260 93931260 single base substitution C T intron_variant MELA-AU 1 93931561 93931561 single base substitution T G intron_variant MELA-AU 1 93931611 93931611 single base substitution T C intron_variant MELA-AU 1 93931868 93931868 single base substitution C T intron_variant MELA-AU 1 93931924 93931924 single base substitution T A intron_variant MELA-AU 1 93932093 93932093 single base substitution C T intron_variant MELA-AU 1 93932280 93932280 single base substitution T C intron_variant MELA-AU 1 93932785 93932786 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 93933549 93933549 single base substitution C T intron_variant MELA-AU 1 93933814 93933814 single base substitution C T intron_variant MELA-AU 1 93933869 93933869 single base substitution C T intron_variant MELA-AU 1 93934351 93934351 single base substitution T C intron_variant MELA-AU 1 93935879 93935879 single base substitution C T intron_variant MELA-AU 1 93936586 93936586 single base substitution C T intron_variant MELA-AU 1 93937014 93937014 single base substitution C T intron_variant MELA-AU 1 93937133 93937133 single base substitution C T intron_variant MELA-AU 1 93937281 93937281 single base substitution C T intron_variant MELA-AU 1 93938407 93938407 single base substitution C T intron_variant MELA-AU 1 93938407 93938408 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 93939793 93939793 single base substitution C T intron_variant MELA-AU 1 93940167 93940167 single base substitution G A intron_variant MELA-AU 1 93940274 93940274 single base substitution A C intron_variant MELA-AU 1 93940767 93940767 single base substitution A G intron_variant MELA-AU 1 93941133 93941133 single base substitution C T intron_variant MELA-AU 1 93941315 93941315 single base substitution T C intron_variant MELA-AU 1 93942064 93942064 single base substitution C T intron_variant MELA-AU 1 93942313 93942313 single base substitution G A intron_variant MELA-AU 1 93942737 93942737 single base substitution T C intron_variant MELA-AU 1 93942924 93942924 single base substitution A G intron_variant MELA-AU 1 93943320 93943320 single base substitution C T intron_variant MELA-AU 1 93943628 93943628 single base substitution A G intron_variant MELA-AU 1 93943668 93943668 single base substitution C T intron_variant MELA-AU 1 93943711 93943711 single base substitution C T intron_variant MELA-AU 1 93945157 93945157 single base substitution C T intron_variant MELA-AU 1 93945179 93945179 single base substitution C T intron_variant MELA-AU 1 93945776 93945776 single base substitution G T intron_variant MELA-AU 1 93945851 93945851 single base substitution C T intron_variant MELA-AU 1 93945891 93945891 single base substitution C T intron_variant MELA-AU 1 93946271 93946271 single base substitution C T intron_variant MELA-AU 1 93946335 93946335 single base substitution G A intron_variant MELA-AU 1 93946354 93946354 single base substitution C T intron_variant MELA-AU 1 93946561 93946561 single base substitution C T intron_variant MELA-AU 1 93946853 93946853 single base substitution C T intron_variant MELA-AU 1 93947452 93947452 single base substitution C T intron_variant MELA-AU 1 93947829 93947829 single base substitution C T intron_variant MELA-AU 1 93948441 93948441 single base substitution C T intron_variant MELA-AU 1 93949154 93949154 single base substitution G A intron_variant MELA-AU 1 93950510 93950510 single base substitution G A intron_variant MELA-AU 1 93950748 93950748 single base substitution C T intron_variant MELA-AU 1 93950753 93950753 single base substitution A G intron_variant MELA-AU 1 93950899 93950899 single base substitution C T intron_variant MELA-AU 1 93951259 93951259 single base substitution C T intron_variant MELA-AU 1 93951363 93951363 single base substitution C T intron_variant MELA-AU 1 93951510 93951510 single base substitution C T intron_variant MELA-AU 1 93952001 93952001 single base substitution A G intron_variant MELA-AU 1 93952425 93952425 single base substitution C T intron_variant MELA-AU 1 93952603 93952603 single base substitution C T intron_variant MELA-AU 1 93952868 93952868 single base substitution C T intron_variant MELA-AU 1 93954049 93954049 single base substitution C T intron_variant MELA-AU 1 93954913 93954914 multiple base substitution (>=2bp and <=200bp) TG AA intron_variant MELA-AU 1 93956209 93956209 single base substitution C T intron_variant MELA-AU 1 93957870 93957870 single base substitution C T intron_variant MELA-AU 1 93958525 93958525 single base substitution G A intron_variant MELA-AU 1 93958714 93958714 single base substitution G T intron_variant MELA-AU 1 93959611 93959611 single base substitution C T intron_variant MELA-AU 1 93960543 93960543 single base substitution C T intron_variant MELA-AU 1 93960546 93960546 deletion of <=200bp G - intron_variant MELA-AU 1 93960559 93960559 single base substitution C T intron_variant MELA-AU 1 93960755 93960755 single base substitution C T intron_variant MELA-AU 1 93962074 93962074 single base substitution C T intron_variant MELA-AU 1 93962621 93962621 single base substitution C T intron_variant MELA-AU 1 93963327 93963327 single base substitution C T intron_variant MELA-AU 1 93965396 93965396 single base substitution C T intron_variant MELA-AU 1 93965662 93965662 single base substitution C T intron_variant MELA-AU 1 93966434 93966434 single base substitution C T intron_variant MELA-AU 1 93967338 93967338 single base substitution C T intron_variant MELA-AU 1 93967354 93967354 single base substitution T A intron_variant MELA-AU 1 93968666 93968666 single base substitution C T intron_variant MELA-AU 1 93968996 93968996 single base substitution C T intron_variant MELA-AU 1 93970024 93970024 single base substitution C T intron_variant MELA-AU 1 93971196 93971196 single base substitution C T intron_variant MELA-AU 1 93971279 93971279 single base substitution C T intron_variant MELA-AU 1 93971598 93971598 single base substitution C T intron_variant MELA-AU 1 93972536 93972536 single base substitution C T intron_variant MELA-AU 1 93973459 93973459 single base substitution G A intron_variant MELA-AU 1 93973499 93973499 single base substitution C T intron_variant MELA-AU 1 93973512 93973512 single base substitution T G intron_variant MELA-AU 1 93973642 93973642 single base substitution C G intron_variant MELA-AU 1 93974368 93974368 single base substitution G T intron_variant MELA-AU 1 93974492 93974492 single base substitution C T intron_variant MELA-AU 1 93975179 93975179 single base substitution T A intron_variant MELA-AU 1 93975322 93975322 single base substitution G A intron_variant MELA-AU 1 93975456 93975456 single base substitution C T intron_variant MELA-AU 1 93975763 93975763 single base substitution C T intron_variant MELA-AU 1 93976240 93976241 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 1 93976513 93976513 single base substitution G A intron_variant MELA-AU 1 93977048 93977048 single base substitution C T intron_variant MELA-AU 1 93978742 93978742 single base substitution C T intron_variant MELA-AU 1 93979780 93979780 single base substitution C T intron_variant MELA-AU 1 93981248 93981248 single base substitution C T intron_variant MELA-AU 1 93981418 93981418 single base substitution A T intron_variant MELA-AU 1 93981928 93981928 single base substitution C T intron_variant MELA-AU 1 93982213 93982213 single base substitution A T intron_variant MELA-AU 1 93982245 93982245 single base substitution C T intron_variant MELA-AU 1 93982462 93982462 single base substitution G A intron_variant MELA-AU 1 93982477 93982477 single base substitution C T intron_variant MELA-AU 1 93982932 93982932 single base substitution G A intron_variant MELA-AU 1 93982950 93982950 single base substitution C T intron_variant MELA-AU 1 93982990 93982990 single base substitution C T intron_variant MELA-AU 1 93983304 93983304 single base substitution T C intron_variant MELA-AU 1 93983983 93983983 single base substitution C T intron_variant MELA-AU 1 93984586 93984586 single base substitution C T intron_variant MELA-AU 1 93984753 93984753 single base substitution C T intron_variant MELA-AU 1 93985097 93985097 single base substitution C T intron_variant MELA-AU 1 93985232 93985232 single base substitution G A intron_variant MELA-AU 1 93985722 93985722 single base substitution C T intron_variant MELA-AU 1 93985969 93985969 single base substitution C T intron_variant MELA-AU 1 93986156 93986156 single base substitution G A intron_variant MELA-AU 1 93986494 93986494 single base substitution G A intron_variant MELA-AU 1 93986694 93986694 single base substitution C T intron_variant MELA-AU 1 93986997 93986997 single base substitution C T intron_variant MELA-AU 1 93987090 93987090 single base substitution C T intron_variant MELA-AU 1 93988213 93988213 single base substitution C T intron_variant MELA-AU 1 93988475 93988475 single base substitution C T intron_variant MELA-AU 1 93988826 93988826 single base substitution G A intron_variant MELA-AU 1 93989494 93989494 single base substitution A T intron_variant MELA-AU 1 93990684 93990684 single base substitution C T intron_variant MELA-AU 1 93990684 93990684 single base substitution C T upstream_gene_variant MELA-AU 1 93990851 93990851 single base substitution C T intron_variant MELA-AU 1 93990851 93990851 single base substitution C T upstream_gene_variant MELA-AU 1 93990877 93990877 single base substitution C T intron_variant MELA-AU 1 93990877 93990877 single base substitution C T upstream_gene_variant MELA-AU 1 93991036 93991036 single base substitution C T intron_variant MELA-AU 1 93991036 93991036 single base substitution C T upstream_gene_variant MELA-AU 1 93991360 93991360 single base substitution G C intron_variant MELA-AU 1 93991360 93991360 single base substitution G C upstream_gene_variant MELA-AU 1 93991807 93991807 single base substitution A G intron_variant MELA-AU 1 93991807 93991807 single base substitution A G upstream_gene_variant MELA-AU 1 93991946 93991946 single base substitution C T intron_variant MELA-AU 1 93991946 93991946 single base substitution C T upstream_gene_variant MELA-AU 1 93992079 93992079 single base substitution C T intron_variant MELA-AU 1 93992079 93992079 single base substitution C T upstream_gene_variant MELA-AU 1 93993223 93993224 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 93993223 93993224 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 93993525 93993525 single base substitution C G intron_variant MELA-AU 1 93993525 93993525 single base substitution C G upstream_gene_variant MELA-AU 1 93993874 93993874 single base substitution C T intron_variant MELA-AU 1 93993874 93993874 single base substitution C T upstream_gene_variant MELA-AU 1 93994840 93994840 single base substitution C T intron_variant MELA-AU 1 93994840 93994840 single base substitution C T upstream_gene_variant MELA-AU 1 93994843 93994843 single base substitution C T intron_variant MELA-AU 1 93994843 93994843 single base substitution C T upstream_gene_variant MELA-AU 1 93994881 93994881 single base substitution G A intron_variant MELA-AU 1 93994881 93994881 single base substitution G A upstream_gene_variant MELA-AU 1 93994912 93994912 single base substitution A C intron_variant MELA-AU 1 93994912 93994912 single base substitution A C upstream_gene_variant MELA-AU 1 93995337 93995337 single base substitution T C intron_variant MELA-AU 1 93995578 93995578 single base substitution C T intron_variant MELA-AU 1 93996396 93996396 single base substitution G A missense_variant E199K 595G>A MELA-AU 1 93996396 93996396 single base substitution G A missense_variant E44K 130G>A MELA-AU 1 93997606 93997606 single base substitution C T intron_variant MELA-AU 1 93997752 93997752 single base substitution G A intron_variant MELA-AU 1 93998403 93998404 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 93998422 93998422 single base substitution C T intron_variant MELA-AU 1 93998937 93998937 single base substitution G A intron_variant MELA-AU 1 93999552 93999552 deletion of <=200bp T - intron_variant MELA-AU 1 94000155 94000155 single base substitution T A intron_variant MELA-AU 1 94000325 94000325 single base substitution G A missense_variant E129K 385G>A MELA-AU 1 94000325 94000325 single base substitution G A missense_variant E284K 850G>A MELA-AU 1 94000357 94000357 single base substitution T A synonymous_variant I139I 417T>A MELA-AU 1 94000357 94000357 single base substitution T A synonymous_variant I294I 882T>A MELA-AU 1 94000671 94000671 single base substitution G A intron_variant MELA-AU 1 94002056 94002056 single base substitution A G intron_variant MELA-AU 1 94002987 94002987 single base substitution C T intron_variant MELA-AU 1 94003535 94003535 single base substitution C T intron_variant MELA-AU 1 94003968 94003968 single base substitution G A intron_variant MELA-AU 1 94004106 94004106 single base substitution G A intron_variant MELA-AU 1 94004122 94004122 single base substitution G A intron_variant MELA-AU 1 94004393 94004393 single base substitution C T intron_variant MELA-AU 1 94004393 94004393 single base substitution C T upstream_gene_variant MELA-AU 1 94004838 94004838 single base substitution C T intron_variant MELA-AU 1 94004838 94004838 single base substitution C T upstream_gene_variant MELA-AU 1 94005110 94005110 single base substitution T G intron_variant MELA-AU 1 94005110 94005110 single base substitution T G upstream_gene_variant MELA-AU 1 94005128 94005128 single base substitution A T intron_variant MELA-AU 1 94005128 94005128 single base substitution A T upstream_gene_variant MELA-AU 1 94005276 94005276 single base substitution C T intron_variant MELA-AU 1 94005276 94005276 single base substitution C T upstream_gene_variant MELA-AU 1 94006015 94006015 single base substitution C T intron_variant MELA-AU 1 94006015 94006015 single base substitution C T upstream_gene_variant MELA-AU 1 94006580 94006580 single base substitution T A intron_variant MELA-AU 1 94006580 94006580 single base substitution T A upstream_gene_variant MELA-AU 1 94007044 94007044 single base substitution C T intron_variant MELA-AU 1 94007044 94007044 single base substitution C T upstream_gene_variant MELA-AU 1 94007786 94007786 single base substitution G A intron_variant MELA-AU 1 94007786 94007786 single base substitution G A upstream_gene_variant MELA-AU 1 94007993 94007993 single base substitution G A intron_variant MELA-AU 1 94007993 94007993 single base substitution G A upstream_gene_variant MELA-AU 1 94008171 94008171 single base substitution C T intron_variant MELA-AU 1 94008171 94008171 single base substitution C T upstream_gene_variant MELA-AU 1 94009143 94009143 single base substitution C T intron_variant MELA-AU 1 94009143 94009143 single base substitution C T upstream_gene_variant MELA-AU 1 94009877 94009877 single base substitution T C intron_variant MELA-AU 1 94009962 94009962 single base substitution T G intron_variant MELA-AU 1 94010714 94010714 single base substitution G A intron_variant MELA-AU 1 94010858 94010858 single base substitution C A intron_variant MELA-AU 1 94012898 94012898 single base substitution C T splice_region_variant MELA-AU 1 94013074 94013074 single base substitution C T intron_variant MELA-AU 1 94013885 94013885 single base substitution C T intron_variant MELA-AU 1 94014185 94014185 single base substitution C T intron_variant MELA-AU 1 94014186 94014186 single base substitution C T intron_variant MELA-AU 1 94014319 94014319 single base substitution C T intron_variant MELA-AU 1 94014886 94014886 single base substitution C T downstream_gene_variant MELA-AU 1 94014886 94014886 single base substitution C T synonymous_variant P363P 1089C>T MELA-AU 1 94014886 94014886 single base substitution C T synonymous_variant P460P 1380C>T MELA-AU 1 94014886 94014886 single base substitution C T synonymous_variant P513P 1539C>T MELA-AU 1 94014886 94014886 single base substitution C T synonymous_variant P518P 1554C>T MELA-AU 1 94015725 94015725 single base substitution C T downstream_gene_variant MELA-AU 1 94015725 94015725 single base substitution C T intron_variant MELA-AU 1 94015736 94015736 single base substitution A C downstream_gene_variant MELA-AU 1 94015736 94015736 single base substitution A C intron_variant MELA-AU 1 94017182 94017182 single base substitution C T 3_prime_UTR_variant MELA-AU 1 94017182 94017182 single base substitution C T downstream_gene_variant MELA-AU 1 94017182 94017182 single base substitution C T intron_variant MELA-AU 1 94017794 94017794 single base substitution G C 3_prime_UTR_variant MELA-AU 1 94017794 94017794 single base substitution G C downstream_gene_variant MELA-AU 1 94017794 94017794 single base substitution G C intron_variant MELA-AU 1 94020099 94020099 single base substitution G A 3_prime_UTR_variant MELA-AU 1 94020099 94020099 single base substitution G A downstream_gene_variant MELA-AU 1 94021112 94021112 single base substitution C T downstream_gene_variant MELA-AU 1 94021507 94021507 single base substitution A G downstream_gene_variant MELA-AU 1 94022637 94022637 single base substitution C T downstream_gene_variant MELA-AU 1 94022940 94022940 single base substitution T C downstream_gene_variant MELA-AU 1 94024618 94024618 single base substitution C T downstream_gene_variant MELA-AU 1 94024917 94024917 single base substitution C T downstream_gene_variant ORCA-IN 1 93914975 93914975 single base substitution C G intron_variant ORCA-IN 1 93926982 93926982 single base substitution G A intron_variant ORCA-IN 1 93939635 93939635 single base substitution C G intron_variant ORCA-IN 1 93970312 93970312 single base substitution C G intron_variant ORCA-IN 1 93987354 93987354 single base substitution C T intron_variant ORCA-IN 1 93988999 93988999 single base substitution A G missense_variant Y98C 293A>G ORCA-IN 1 93996372 93996372 single base substitution G T missense_variant A191S 571G>T ORCA-IN 1 93996372 93996372 single base substitution G T missense_variant A36S 106G>T ORCA-IN 1 93998478 93998478 single base substitution G T splice_acceptor_variant ORCA-IN 1 94008642 94008642 single base substitution C T intron_variant ORCA-IN 1 94008642 94008642 single base substitution C T upstream_gene_variant OV-AU 1 93919061 93919061 single base substitution C G intron_variant OV-AU 1 93920178 93920178 single base substitution C T intron_variant OV-AU 1 93926261 93926261 single base substitution C T intron_variant OV-AU 1 93928010 93928010 single base substitution G C intron_variant OV-AU 1 93928757 93928757 single base substitution T C intron_variant OV-AU 1 93929297 93929297 single base substitution T C intron_variant OV-AU 1 93929589 93929589 single base substitution G C intron_variant OV-AU 1 93932449 93932449 single base substitution C G intron_variant OV-AU 1 93940320 93940320 single base substitution G T intron_variant OV-AU 1 93940950 93940950 single base substitution A T intron_variant OV-AU 1 93957316 93957316 single base substitution A G intron_variant OV-AU 1 93965926 93965926 single base substitution G C intron_variant OV-AU 1 93971766 93971766 single base substitution T G intron_variant OV-AU 1 93972691 93972691 single base substitution C T intron_variant OV-AU 1 94006892 94006892 single base substitution A G intron_variant OV-AU 1 94006892 94006892 single base substitution A G upstream_gene_variant OV-AU 1 94008051 94008051 single base substitution C G intron_variant OV-AU 1 94008051 94008051 single base substitution C G upstream_gene_variant OV-AU 1 94020824 94020824 single base substitution C T downstream_gene_variant OV-AU 1 94023697 94023697 single base substitution G C downstream_gene_variant PACA-AU 1 93912857 93912857 single base substitution G A upstream_gene_variant PACA-AU 1 93912858 93912858 single base substitution A G upstream_gene_variant PACA-AU 1 93913675 93913675 single base substitution A G upstream_gene_variant PACA-AU 1 93932776 93932776 single base substitution C T intron_variant PACA-AU 1 93934035 93934035 single base substitution T G intron_variant PACA-AU 1 93959521 93959521 single base substitution C G intron_variant PACA-AU 1 93971789 93971789 single base substitution C T intron_variant PACA-AU 1 93979972 93979976 deletion of <=200bp TACTT - intron_variant PACA-AU 1 93986302 93986302 single base substitution G A intron_variant PACA-AU 1 93988081 93988082 deletion of <=200bp GA - intron_variant PACA-AU 1 93989803 93989803 single base substitution G A intron_variant PACA-AU 1 93993049 93993049 insertion of <=200bp - C intron_variant PACA-AU 1 93993049 93993049 insertion of <=200bp - C upstream_gene_variant PACA-AU 1 93994730 93994730 single base substitution A C intron_variant PACA-AU 1 93994730 93994730 single base substitution A C upstream_gene_variant PACA-AU 1 93998611 93998611 single base substitution G T missense_variant V103F 307G>T PACA-AU 1 93998611 93998611 single base substitution G T missense_variant V258F 772G>T PACA-AU 1 94000673 94000673 single base substitution A G intron_variant PACA-AU 1 94019957 94019957 single base substitution C G 3_prime_UTR_variant PACA-AU 1 94019957 94019957 single base substitution C G downstream_gene_variant PACA-AU 1 94020302 94020303 deletion of <=200bp AC - downstream_gene_variant PACA-CA 1 93914310 93914310 single base substitution C G intron_variant PACA-CA 1 93919321 93919321 single base substitution C G intron_variant PACA-CA 1 93920437 93920437 single base substitution G A intron_variant PACA-CA 1 93922477 93922477 single base substitution C G intron_variant PACA-CA 1 93925115 93925115 deletion of <=200bp A - intron_variant PACA-CA 1 93925610 93925610 single base substitution G A intron_variant PACA-CA 1 93925842 93925842 single base substitution C T intron_variant PACA-CA 1 93927275 93927275 single base substitution A T intron_variant PACA-CA 1 93932837 93932837 single base substitution T C intron_variant PACA-CA 1 93933532 93933532 single base substitution C A intron_variant PACA-CA 1 93934104 93934104 single base substitution C T intron_variant PACA-CA 1 93936713 93936713 single base substitution T A intron_variant PACA-CA 1 93939368 93939368 single base substitution T C intron_variant PACA-CA 1 93947562 93947562 insertion of <=200bp - A intron_variant PACA-CA 1 93957926 93957926 single base substitution A T intron_variant PACA-CA 1 93964037 93964037 insertion of <=200bp - T intron_variant PACA-CA 1 93964318 93964318 single base substitution T C intron_variant PACA-CA 1 93965500 93965500 insertion of <=200bp - T intron_variant PACA-CA 1 93967858 93967858 single base substitution G A intron_variant PACA-CA 1 93972047 93972047 single base substitution G C intron_variant PACA-CA 1 93975763 93975763 single base substitution C T intron_variant PACA-CA 1 93978620 93978620 single base substitution G A intron_variant PACA-CA 1 93980481 93980481 single base substitution G A intron_variant PACA-CA 1 93980630 93980630 deletion of <=200bp A - intron_variant PACA-CA 1 93996186 93996186 single base substitution G A intron_variant PACA-CA 1 94012001 94012001 single base substitution A G intron_variant PACA-CA 1 94012007 94012007 single base substitution T C intron_variant PACA-CA 1 94012889 94012889 insertion of <=200bp - T intron_variant PACA-CA 1 94017594 94017594 single base substitution A G 3_prime_UTR_variant PACA-CA 1 94017594 94017594 single base substitution A G downstream_gene_variant PACA-CA 1 94017594 94017594 single base substitution A G intron_variant PACA-CA 1 94018946 94018962 deletion of <=200bp CTGCAGCACCGCTGCAG - 3_prime_UTR_variant PACA-CA 1 94018946 94018962 deletion of <=200bp CTGCAGCACCGCTGCAG - downstream_gene_variant PACA-CA 1 94019909 94019909 single base substitution T A 3_prime_UTR_variant PACA-CA 1 94019909 94019909 single base substitution T A downstream_gene_variant PAEN-AU 1 93911882 93911882 single base substitution G T upstream_gene_variant PAEN-AU 1 93960025 93960025 single base substitution C T intron_variant PAEN-AU 1 93961793 93961793 single base substitution A C intron_variant PAEN-AU 1 93983576 93983576 single base substitution A G intron_variant PAEN-AU 1 93985978 93985978 single base substitution T C intron_variant PAEN-IT 1 93924808 93924808 single base substitution G C intron_variant PAEN-IT 1 93925722 93925722 single base substitution C A intron_variant PAEN-IT 1 93932367 93932367 single base substitution G A intron_variant PAEN-IT 1 93945262 93945262 single base substitution C A intron_variant PAEN-IT 1 94016409 94016409 single base substitution C G downstream_gene_variant PAEN-IT 1 94016409 94016409 single base substitution C G intron_variant PBCA-DE 1 93910540 93910540 single base substitution G T upstream_gene_variant PBCA-DE 1 93912206 93912206 single base substitution C A upstream_gene_variant PBCA-DE 1 93913379 93913379 single base substitution C T upstream_gene_variant PBCA-DE 1 93921214 93921214 single base substitution C T intron_variant PBCA-DE 1 93927108 93927108 deletion of <=200bp A - intron_variant PBCA-DE 1 93927835 93927835 insertion of <=200bp - T intron_variant PBCA-DE 1 93940599 93940599 deletion of <=200bp T - intron_variant PBCA-DE 1 93942932 93942935 deletion of <=200bp TGAA - intron_variant PBCA-DE 1 93943864 93943865 deletion of <=200bp AG - intron_variant PBCA-DE 1 93956680 93956680 deletion of <=200bp T - intron_variant PBCA-DE 1 93970723 93970723 single base substitution C T intron_variant PBCA-DE 1 93974625 93974625 single base substitution C G intron_variant PBCA-DE 1 93983500 93983500 single base substitution A G intron_variant PBCA-DE 1 93986638 93986638 single base substitution C A intron_variant PBCA-DE 1 93994678 93994678 single base substitution T C intron_variant PBCA-DE 1 93994678 93994678 single base substitution T C upstream_gene_variant PBCA-DE 1 94001379 94001379 insertion of <=200bp - A intron_variant PBCA-DE 1 94003272 94003272 single base substitution G T intron_variant PRAD-CA 1 93932563 93932563 single base substitution G A intron_variant PRAD-CA 1 93972666 93972666 single base substitution T A intron_variant PRAD-CA 1 93972668 93972668 single base substitution T A intron_variant PRAD-CA 1 93973990 93973990 single base substitution G A intron_variant PRAD-CA 1 93998500 93998500 single base substitution C T stop_gained R221* 661C>T PRAD-CA 1 93998500 93998500 single base substitution C T stop_gained R66* 196C>T PRAD-UK 1 93913057 93913057 deletion of <=200bp A - upstream_gene_variant PRAD-UK 1 93954661 93954661 single base substitution T G intron_variant PRAD-UK 1 93966739 93966739 single base substitution G A intron_variant PRAD-UK 1 93977249 93977249 single base substitution T C intron_variant PRAD-UK 1 93977269 93977269 single base substitution A G intron_variant PRAD-UK 1 93988037 93988037 deletion of <=200bp A - intron_variant PRAD-UK 1 93998696 93998696 single base substitution G A intron_variant PRAD-UK 1 94019959 94019959 single base substitution T G 3_prime_UTR_variant PRAD-UK 1 94019959 94019959 single base substitution T G downstream_gene_variant RECA-EU 1 93922491 93922491 single base substitution G C intron_variant RECA-EU 1 93924350 93924350 single base substitution A G intron_variant RECA-EU 1 93925436 93925436 single base substitution T A intron_variant RECA-EU 1 93929057 93929057 single base substitution C T intron_variant RECA-EU 1 93933686 93933686 single base substitution C A intron_variant RECA-EU 1 93933950 93933950 single base substitution A T intron_variant RECA-EU 1 93957246 93957246 single base substitution T C intron_variant RECA-EU 1 93960415 93960415 single base substitution G A intron_variant RECA-EU 1 93960914 93960914 single base substitution A C intron_variant RECA-EU 1 93966279 93966279 single base substitution T G intron_variant RECA-EU 1 93971140 93971140 single base substitution A T intron_variant RECA-EU 1 93972866 93972866 single base substitution A T intron_variant RECA-EU 1 93981666 93981666 single base substitution G A intron_variant RECA-EU 1 93981667 93981667 single base substitution T A intron_variant RECA-EU 1 94008840 94008840 single base substitution A C intron_variant RECA-EU 1 94008840 94008840 single base substitution A C upstream_gene_variant RECA-EU 1 94009663 94009663 single base substitution G T exon_variant RECA-EU 1 94009663 94009663 single base substitution G T splice_acceptor_variant RECA-EU 1 94015663 94015663 single base substitution G A downstream_gene_variant RECA-EU 1 94015663 94015663 single base substitution G A intron_variant RECA-EU 1 94016654 94016654 single base substitution A G downstream_gene_variant RECA-EU 1 94016654 94016654 single base substitution A G missense_variant N446S 1337A>G RECA-EU 1 94016654 94016654 single base substitution A G missense_variant N543S 1628A>G RECA-EU 1 94016654 94016654 single base substitution A G missense_variant N596S 1787A>G RECA-EU 1 94016654 94016654 single base substitution A G missense_variant N601S 1802A>G RECA-EU 1 94019249 94019249 single base substitution G C 3_prime_UTR_variant RECA-EU 1 94019249 94019249 single base substitution G C downstream_gene_variant SKCA-BR 1 93911792 93911792 single base substitution C T upstream_gene_variant SKCA-BR 1 93912207 93912207 single base substitution G A upstream_gene_variant SKCA-BR 1 93913367 93913367 single base substitution T G upstream_gene_variant SKCA-BR 1 93914045 93914045 single base substitution A G intron_variant SKCA-BR 1 93918743 93918743 single base substitution T A intron_variant SKCA-BR 1 93919893 93919893 insertion of <=200bp - CTG intron_variant SKCA-BR 1 93920164 93920164 single base substitution T A intron_variant SKCA-BR 1 93920840 93920840 single base substitution C T intron_variant SKCA-BR 1 93924934 93924934 single base substitution C T intron_variant SKCA-BR 1 93932406 93932406 single base substitution C T intron_variant SKCA-BR 1 93934800 93934800 single base substitution A C intron_variant SKCA-BR 1 93934817 93934817 single base substitution A C intron_variant SKCA-BR 1 93936429 93936429 insertion of <=200bp - CA intron_variant SKCA-BR 1 93939652 93939652 single base substitution A G intron_variant SKCA-BR 1 93941303 93941303 single base substitution G C intron_variant SKCA-BR 1 93942773 93942773 single base substitution T A intron_variant SKCA-BR 1 93958753 93958753 single base substitution C T intron_variant SKCA-BR 1 93960540 93960540 single base substitution C T intron_variant SKCA-BR 1 93961819 93961819 single base substitution C T intron_variant SKCA-BR 1 93963396 93963396 single base substitution C T intron_variant SKCA-BR 1 93964152 93964152 single base substitution G A intron_variant SKCA-BR 1 93964346 93964346 single base substitution C T intron_variant SKCA-BR 1 93964582 93964582 single base substitution T C intron_variant SKCA-BR 1 93964591 93964591 single base substitution G A intron_variant SKCA-BR 1 93967976 93967976 single base substitution C T intron_variant SKCA-BR 1 93967985 93967985 single base substitution G A intron_variant SKCA-BR 1 93968150 93968150 single base substitution G A intron_variant SKCA-BR 1 93969957 93969957 single base substitution A C intron_variant SKCA-BR 1 93970018 93970018 single base substitution C T intron_variant SKCA-BR 1 93972652 93972676 deletion of <=200bp ACACACACACACACTCTCTCTCTCT - intron_variant SKCA-BR 1 93972656 93972666 deletion of <=200bp ACACACACACT - intron_variant SKCA-BR 1 93972656 93972670 deletion of <=200bp ACACACACACTCTCT - intron_variant SKCA-BR 1 93972706 93972706 insertion of <=200bp - TCTCTCT intron_variant SKCA-BR 1 93973808 93973808 single base substitution G A intron_variant SKCA-BR 1 93974864 93974864 single base substitution C T intron_variant SKCA-BR 1 93975592 93975592 single base substitution A G intron_variant SKCA-BR 1 93976418 93976418 single base substitution G A intron_variant SKCA-BR 1 93977776 93977776 single base substitution T C intron_variant SKCA-BR 1 93979458 93979458 single base substitution T A intron_variant SKCA-BR 1 93982828 93982828 single base substitution C T intron_variant SKCA-BR 1 93983075 93983075 single base substitution C T intron_variant SKCA-BR 1 93984084 93984084 single base substitution C T intron_variant SKCA-BR 1 93985320 93985320 single base substitution A T intron_variant SKCA-BR 1 93986618 93986618 single base substitution C G intron_variant SKCA-BR 1 93988253 93988254 deletion of <=200bp GT - intron_variant SKCA-BR 1 93991569 93991569 single base substitution C T intron_variant SKCA-BR 1 93991569 93991569 single base substitution C T upstream_gene_variant SKCA-BR 1 93992680 93992680 single base substitution C T intron_variant SKCA-BR 1 93992680 93992680 single base substitution C T upstream_gene_variant SKCA-BR 1 93993683 93993683 single base substitution G A intron_variant SKCA-BR 1 93993683 93993683 single base substitution G A upstream_gene_variant SKCA-BR 1 94001697 94001697 single base substitution T A intron_variant SKCA-BR 1 94001897 94001897 single base substitution C T intron_variant SKCA-BR 1 94001897 94001897 single base substitution C T synonymous_variant S178S 534C>T SKCA-BR 1 94001897 94001897 single base substitution C T synonymous_variant S333S 999C>T SKCA-BR 1 94004290 94004290 single base substitution A G intron_variant SKCA-BR 1 94005670 94005670 single base substitution C T intron_variant SKCA-BR 1 94005670 94005670 single base substitution C T upstream_gene_variant SKCA-BR 1 94007147 94007147 single base substitution T G intron_variant SKCA-BR 1 94007147 94007147 single base substitution T G upstream_gene_variant SKCA-BR 1 94013884 94013884 single base substitution C T intron_variant SKCA-BR 1 94014272 94014272 single base substitution C T intron_variant SKCM-US 1 93987662 93987662 single base substitution C T missense_variant P55L 164C>T SKCM-US 1 93988993 93988993 single base substitution G A missense_variant R96K 287G>A SKCM-US 1 93996314 93996314 single base substitution C T splice_region_variant SKCM-US 1 94012481 94012481 single base substitution G A exon_variant SKCM-US 1 94012481 94012481 single base substitution G A missense_variant E298K 892G>A SKCM-US 1 94012481 94012481 single base substitution G A missense_variant E395K 1183G>A SKCM-US 1 94012481 94012481 single base substitution G A missense_variant E448K 1342G>A SKCM-US 1 94012481 94012481 single base substitution G A missense_variant E453K 1357G>A SKCM-US 1 94014865 94014865 single base substitution C T exon_variant SKCM-US 1 94014865 94014865 single base substitution C T synonymous_variant N356N 1068C>T SKCM-US 1 94014865 94014865 single base substitution C T synonymous_variant N453N 1359C>T SKCM-US 1 94014865 94014865 single base substitution C T synonymous_variant N506N 1518C>T SKCM-US 1 94014865 94014865 single base substitution C T synonymous_variant N511N 1533C>T SKCM-US 1 94016545 94016545 single base substitution C T downstream_gene_variant SKCM-US 1 94016545 94016545 single base substitution C T missense_variant L410F 1228C>T SKCM-US 1 94016545 94016545 single base substitution C T missense_variant L507F 1519C>T SKCM-US 1 94016545 94016545 single base substitution C T missense_variant L560F 1678C>T SKCM-US 1 94016545 94016545 single base substitution C T missense_variant L565F 1693C>T STAD-US 1 93987691 93987691 single base substitution C T missense_variant R65W 193C>T STAD-US 1 93995246 93995246 deletion of <=200bp A - frameshift_variant E148 STAD-US 1 93995246 93995246 deletion of <=200bp A - upstream_gene_variant STAD-US 1 93996334 93996334 single base substitution G A missense_variant R178H 533G>A STAD-US 1 93996334 93996334 single base substitution G A missense_variant R23H 68G>A STAD-US 1 94001888 94001888 single base substitution G A intron_variant STAD-US 1 94001888 94001888 single base substitution G A splice_acceptor_variant STAD-US 1 94012462 94012462 single base substitution T C exon_variant STAD-US 1 94012462 94012462 single base substitution T C synonymous_variant S291S 873T>C STAD-US 1 94012462 94012462 single base substitution T C synonymous_variant S388S 1164T>C STAD-US 1 94012462 94012462 single base substitution T C synonymous_variant S441S 1323T>C STAD-US 1 94012462 94012462 single base substitution T C synonymous_variant S446S 1338T>C STAD-US 1 94016562 94016562 single base substitution G T downstream_gene_variant STAD-US 1 94016562 94016562 single base substitution G T missense_variant E415D 1245G>T STAD-US 1 94016562 94016562 single base substitution G T missense_variant E512D 1536G>T STAD-US 1 94016562 94016562 single base substitution G T missense_variant E565D 1695G>T STAD-US 1 94016562 94016562 single base substitution G T missense_variant E570D 1710G>T THCA-SA 1 93965046 93965046 insertion of <=200bp - T frameshift_variant K16*? THCA-US 1 93965084 93965084 single base substitution T C synonymous_variant Y28Y 84T>C UCEC-US 1 93965033 93965033 single base substitution C T synonymous_variant F11F 33C>T UCEC-US 1 93965072 93965072 single base substitution C A missense_variant F24L 72C>A UCEC-US 1 93988988 93988988 single base substitution G A synonymous_variant A94A 282G>A UCEC-US 1 94000411 94000411 single base substitution A C missense_variant K157N 471A>C UCEC-US 1 94000411 94000411 single base substitution A C missense_variant K312N 936A>C UCEC-US 1 94001976 94001976 single base substitution G A intron_variant UCEC-US 1 94001976 94001976 single base substitution G A missense_variant V205M 613G>A UCEC-US 1 94001976 94001976 single base substitution G A missense_variant V360M 1078G>A UCEC-US 1 94009668 94009668 single base substitution C T exon_variant UCEC-US 1 94009668 94009668 single base substitution C T missense_variant P235L 704C>T UCEC-US 1 94009668 94009668 single base substitution C T missense_variant P332L 995C>T UCEC-US 1 94009668 94009668 single base substitution C T missense_variant P385L 1154C>T UCEC-US 1 94009668 94009668 single base substitution C T missense_variant P390L 1169C>T UCEC-US 1 94012403 94012403 single base substitution G A exon_variant UCEC-US 1 94012403 94012403 single base substitution G A missense_variant A272T 814G>A UCEC-US 1 94012403 94012403 single base substitution G A missense_variant A369T 1105G>A UCEC-US 1 94012403 94012403 single base substitution G A missense_variant A422T 1264G>A UCEC-US 1 94012403 94012403 single base substitution G A missense_variant A427T 1279G>A UCEC-US 1 94012494 94012494 single base substitution A G exon_variant UCEC-US 1 94012494 94012494 single base substitution A G missense_variant N302S 905A>G UCEC-US 1 94012494 94012494 single base substitution A G missense_variant N399S 1196A>G UCEC-US 1 94012494 94012494 single base substitution A G missense_variant N452S 1355A>G UCEC-US 1 94012494 94012494 single base substitution A G missense_variant N457S 1370A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand YUFERY COSM5381738 c.590A>T p.N197I Substitution - Missense 1:93530834-93530834 + 587316 COSM1207349 c.1370G>A p.R457H Substitution - Missense 1:93549319-93549319 + TCGA-AG-3881-01 COSM288388 c.972C>T p.L324L Substitution - coding silent 1:93534890-93534890 + TCGA-FE-A3PC-01 COSM3369875 c.84T>C p.Y28Y Substitution - coding silent 1:93499527-93499527 + Pat_41_B COSM5847499 c.281C>T p.A94V Substitution - Missense 1:93523430-93523430 + SC_9081 COSM5565927 c.1205G>A p.R402H Substitution - Missense 1:93546946-93546946 + PD9597a COSM5789529 c.977G>A p.G326E Substitution - Missense 1:93534895-93534895 + 360_T COSM3977985 c.57A>T p.Q19H Substitution - Missense 1:93499500-93499500 + TCGA-CA-6718-01 COSM1344964 c.824T>G p.F275C Substitution - Missense 1:93534742-93534742 + TCGA-A8-A09Z-01 COSM3806133 c.997G>A p.A333T Substitution - Missense 1:93544113-93544113 + PTC_221 COSM5960227 c.46_47insT p.K16fs*8 Insertion - Frameshift 1:93499489-93499490 + PASLZM COSM5006181 c.505G>A p.E169K Substitution - Missense 1:93529751-93529751 + ESCC-010T COSM3934862 c.119A>T p.Q40L Substitution - Missense 1:93499562-93499562 + S02273 COSM5681476 c.1153G>T p.D385Y Substitution - Missense 1:93546894-93546894 + TCGA-EE-A29V-06 COSM3493411 c.1183G>A p.E395K Substitution - Missense 1:93546924-93546924 + 855_PT COSM5754531 c.219T>A p.F73L Substitution - Missense 1:93523368-93523368 + DN12171 COSM5963002 c.129G>A p.A43A Substitution - coding silent 1:93499572-93499572 + TCGA-AP-A0LM-01 COSM913403 c.1105G>A p.A369T Substitution - Missense 1:93546846-93546846 + TCGA-BR-8591-01 COSM4010665 c.1164T>C p.S388S Substitution - coding silent 1:93546905-93546905 + CSCC-60-T COSM4551725 c.537G>A p.T179T Substitution - coding silent 1:93530781-93530781 + OSCC-GB_00580111 COSM4886641 c.571G>T p.A191S Substitution - Missense 1:93530815-93530815 + TCGA-DW-7840-01 COSM3985309 c.538C>T p.H180Y Substitution - Missense 1:93530782-93530782 + TCGA-AN-A046-01 COSM3806135 c.1609G>A p.D537N Substitution - Missense 1:93551078-93551078 + 855_CLM COSM5754531 c.219T>A p.F73L Substitution - Missense 1:93523368-93523368 + C0021T COSM4165338 c.991-1G>T p.? Unknown 1:93544106-93544106 + TCGA-EE-A29E-06 COSM3493405 c.164C>T p.P55L Substitution - Missense 1:93522105-93522105 + OSCC-GB_01000111 COSM4884257 c.293A>G p.Y98C Substitution - Missense 1:93523442-93523442 + LP6005334-DNA_G01 COSM5034928 c.1376C>T p.P459L Substitution - Missense 1:93549325-93549325 + 8035555 COSM3386397 c.772G>T p.V258F Substitution - Missense 1:93533054-93533054 + CPCG0098-F1 COSM4880251 c.661C>T p.R221* Substitution - Nonsense 1:93532943-93532943 + HCT116 COSM2260420 c.170G>T p.R57L Substitution - Missense 1:93522111-93522111 + TCGA-MH-A561-01 COSM3985307 c.136T>A p.L46M Substitution - Missense 1:93499579-93499579 + S01023 COSM5666341 c.1097A>G p.Q366R Substitution - Missense 1:93544213-93544213 + TCGA-D1-A17Q-01 COSM913398 c.72C>A p.F24L Substitution - Missense 1:93499515-93499515 + TCGA-BR-4201-01 COSM465104 c.193C>T p.R65W Substitution - Missense 1:93522134-93522134 + 6948_PT COSM5754533 c.272A>G p.E91G Substitution - Missense 1:93523421-93523421 + SC_9076 COSM5552882 c.465A>G p.E155E Substitution - coding silent 1:93529711-93529711 + TCGA-FS-A1ZZ-06 COSM3493409 c.513C>T p.A171A Substitution - coding silent 1:93530757-93530757 + CHEWS024 COSM4577656 c.1226A>G p.K409R Substitution - Missense 1:93546967-93546967 + TCGA-BS-A0UV-01 COSM913399 c.282G>A p.A94A Substitution - coding silent 1:93523431-93523431 + TCGA-C5-A3HE-01 COSM4827869 c.287G>T p.R96I Substitution - Missense 1:93523436-93523436 + TCGA-BS-A0UF-01 COSM275201 c.33C>T p.F11F Substitution - coding silent 1:93499476-93499476 + SA236 COSM212804 c.1132G>C p.E378Q Substitution - Missense 1:93546873-93546873 + C0002T COSM4165340 c.1628A>G p.N543S Substitution - Missense 1:93551097-93551097 + LUAD-YINHD COSM350138 c.778G>A p.E260K Substitution - Missense 1:93533060-93533060 + TCGA-FS-A1ZW-06 COSM3493415 c.1519C>T p.L507F Substitution - Missense 1:93550988-93550988 + TCGA-BT-A20W-01 COSM414729 c.1533G>T p.E511D Substitution - Missense 1:93551002-93551002 + TCGA-AA-A00N-01 COSM275201 c.33C>T p.F11F Substitution - coding silent 1:93499476-93499476 + TCGA-D1-A17Q-01 COSM913404 c.1196A>G p.N399S Substitution - Missense 1:93546937-93546937 + TCGA-D3-A51T-06 COSM3493413 c.1359C>T p.N453N Substitution - coding silent 1:93549308-93549308 + 011T COSM1727635 c.1393C>T p.H465Y Substitution - Missense 1:93549342-93549342 + YUQUEST COSM5381736 c.225C>T p.I75I Substitution - coding silent 1:93523374-93523374 + BD121T COSM2260424 c.662G>A p.R221Q Substitution - Missense 1:93532944-93532944 + PD24209a COSM5799804 c.913G>C p.E305Q Substitution - Missense 1:93534831-93534831 + CSCC-56-T COSM4446002 c.343-3C>T p.? Unknown 1:93524258-93524258 + SNU-C2B COSM4615289 c.907delA p.K303fs*13 Deletion - Frameshift 1:93534825-93534825 + 587376 COSM1207351 c.467G>T p.R156I Substitution - Missense 1:93529713-93529713 + 227_T COSM3977987 c.850G>T p.E284* Substitution - Nonsense 1:93534768-93534768 + TCGA-A2-A0YK-01 COSM426849 c.390G>C p.W130C Substitution - Missense 1:93524308-93524308 + TCGA-BP-4161-01 COSM465104 c.193C>T p.R65W Substitution - Missense 1:93522134-93522134 + TCGA-J7-8537-01 COSM3985311 c.1083G>A p.Q361Q Substitution - coding silent 1:93544199-93544199 + TCGA-HJ-7597-01 COSM4010662 c.533G>A p.R178H Substitution - Missense 1:93530777-93530777 + TCGA-B0-5096-01 COSM465104 c.193C>T p.R65W Substitution - Missense 1:93522134-93522134 + 145T COSM1725675 c.1484A>G p.N495S Substitution - Missense 1:93550953-93550953 + YUOMEGA COSM5381734 c.97A>T p.K33* Substitution - Nonsense 1:93499540-93499540 + sysucc-311T COSM275201 c.33C>T p.F11F Substitution - coding silent 1:93499476-93499476 + TCGA-CK-5916-01 COSM1344966 c.1207C>A p.L403I Substitution - Missense 1:93546948-93546948 + TCGA-C8-A26Y-01 COSM3806131 c.753G>C p.M251I Substitution - Missense 1:93533035-93533035 + TCGA-EE-A29S-06 COSM3493407 c.287G>A p.R96K Substitution - Missense 1:93523436-93523436 + ESCC-190T COSM3934864 c.1432C>A p.P478T Substitution - Missense 1:93549381-93549381 + TCGA-AA-A010-01 COSM281206 c.1185G>A p.E395E Substitution - coding silent 1:93546926-93546926 + TCGA-AX-A05Z-01 COSM913400 c.936A>C p.K312N Substitution - Missense 1:93534854-93534854 + TCGA-A5-A0GI-01 COSM913402 c.995C>T p.P332L Substitution - Missense 1:93544111-93544111 + TCGA-AG-3906-01 COSM5069955 c.563A>C p.E188A Substitution - Missense 1:93530807-93530807 + TCGA-HU-8602-01 COSM4010667 c.1536G>T p.E512D Substitution - Missense 1:93551005-93551005 + T578 COSM4010662 c.533G>A p.R178H Substitution - Missense 1:93530777-93530777 + TARGET-30-PASWAU COSM1285023 c.934delA p.T313fs*3 Deletion - Frameshift 1:93534852-93534852 + OSCC-GB_01060111 COSM4882871 c.640-1G>T p.? Unknown 1:93532921-93532921 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743249 1p22.1 608848

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.D533A c.1598A>C 1 94014930 LUAD C T Missense p.L565F c.1693C>T 1 94016545 CM C T Missense p.P390L c.1169C>T 1 94009668 UCEC C T Missense p.R65W c.193C>T 1 93987691 RCCC C T Missense p.R65W c.193C>T 1 93987691 STAD C T Missense p.S605F c.1814C>T 1 94017969 CM C T Synonymous p.A171A c.513C>T 1 93996314 CM C T Synonymous p.L324L c.972C>T 1 94000447 COREAD G A Missense p.E453K c.1357G>A 1 94012481 CM G A Missense p.R96K c.287G>A 1 93988993 CM G A Missense p.V360M c.1078G>A 1 94001976 UCEC G C Missense p.E436Q c.1306G>C 1 94012430 BRCA G C Missense p.S227T c.680G>C 1 93998519 LUAD G C Missense p.W130C c.390G>C 1 93989865 BRCA T A 3-UTRSNV . c.1815+415T>A 1 94018385 HC T - Frameshift p.V315Efs*22 c.944delT 1 94000419 PRAD