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 22 37261076 37261080 + Frame_Shift_Del DEL AGAGC AGAGC - TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr22:37261076_37261080delAGAGC c.233_237delAGAGC c.(232-237)aagagcfs p.KS78fs BLCA 22 37266564 37266564 + Silent SNP C C G TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr22:37266564C>G c.450C>G c.(448-450)ctC>ctG p.L150L BLCA 22 37268449 37268449 + Missense_Mutation SNP C C G TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr22:37268449C>G c.609C>G c.(607-609)atC>atG p.I203M BLCA 22 37272086 37272086 + Missense_Mutation SNP G G C TCGA-DK-AA6P-01A-11D-A391-08 TCGA-DK-AA6P-10A-01D-A394-08 g.chr22:37272086G>C c.774G>C c.(772-774)gaG>gaC p.E258D BRCA 22 37260160 37260160 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 g.chr22:37260160A>C c.106A>C c.(106-108)Acc>Ccc p.T36P BRCA 22 37263476 37263476 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr22:37263476G>A c.314G>A c.(313-315)cGg>cAg p.R105Q BRCA 22 37266473 37266473 + Missense_Mutation SNP C C G TCGA-AR-A24U-01A-11D-A167-09 TCGA-AR-A24U-10A-01D-A167-09 g.chr22:37266473C>G c.359C>G c.(358-360)cCg>cGg p.P120R BRCA 22 37272009 37272009 + Intron SNP C C A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr22:37272009C>A CESC 22 37260991 37260991 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr22:37260991G>C c.148G>C c.(148-150)Gga>Cga p.G50R CESC 22 37273686 37273686 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr22:37273686G>C c.841G>C c.(841-843)Gag>Cag p.E281Q COAD 22 37260141 37260141 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:37260141C>T c.87C>T c.(85-87)atC>atT p.I29I COAD 22 37260972 37260972 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:37260972C>T c.129C>T c.(127-129)atC>atT p.I43I COAD 22 37263442 37263442 + Missense_Mutation SNP T T G TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:37263442T>G c.280T>G c.(280-282)Tac>Gac p.Y94D COAD 22 37263468 37263468 + Silent SNP C C T TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr22:37263468C>T c.306C>T c.(304-306)gcC>gcT p.A102A COAD 22 37267715 37267715 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:37267715C>T c.492C>T c.(490-492)ggC>ggT p.G164G COAD 22 37272040 37272040 + Intron SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr22:37272040G>A COAD 22 37273718 37273718 + Frame_Shift_Del DEL G G - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr22:37273718delG c.873delG c.(871-873)gagfs p.E291fs COAD 22 37273855 37273855 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr22:37273855C>T c.1010C>T c.(1009-1011)aCg>aTg p.T337M COADREAD 22 37260141 37260141 + Silent SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr22:37260141C>T c.87C>T c.(85-87)atC>atT p.I29I COADREAD 22 37260972 37260972 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:37260972C>T c.129C>T c.(127-129)atC>atT p.I43I COADREAD 22 37263442 37263442 + Missense_Mutation SNP T T G TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr22:37263442T>G c.280T>G c.(280-282)Tac>Gac p.Y94D COADREAD 22 37263468 37263468 + Silent SNP C C T TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr22:37263468C>T c.306C>T c.(304-306)gcC>gcT p.A102A COADREAD 22 37267715 37267715 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:37267715C>T c.492C>T c.(490-492)ggC>ggT p.G164G COADREAD 22 37272040 37272040 + Intron SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr22:37272040G>A COADREAD 22 37273718 37273718 + Frame_Shift_Del DEL G G - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr22:37273718delG c.873delG c.(871-873)gagfs p.E291fs COADREAD 22 37273855 37273855 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr22:37273855C>T c.1010C>T c.(1009-1011)aCg>aTg p.T337M COADREAD 22 37273855 37273855 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr22:37273855C>T c.1010C>T c.(1009-1011)aCg>aTg p.T337M ESCA 22 37271717 37271717 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr22:37271717G>A c.650G>A c.(649-651)gGc>gAc p.G217D ESCA 22 37273671 37273671 + Splice_Site SNP C C T TCGA-2H-A9GL-01A-12D-A37C-09 TCGA-2H-A9GL-11A-11D-A37F-09 g.chr22:37273671C>T c.826C>T c.(826-828)Cgg>Tgg p.R276W GBMLGG 22 37266498 37266498 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr22:37266498C>T c.384C>T c.(382-384)gaC>gaT p.D128D GBMLGG 22 37268425 37268425 + Missense_Mutation SNP T T A TCGA-DH-A7UT-01A-12D-A34A-08 TCGA-DH-A7UT-10A-01D-A34A-08 g.chr22:37268425T>A c.585T>A c.(583-585)gaT>gaA p.D195E HNSC 22 37266473 37266473 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr22:37266473C>G c.359C>G c.(358-360)cCg>cGg p.P120R HNSC 22 37271924 37271924 + Intron SNP A A C TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr22:37271924A>C HNSC 22 37272079 37272079 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 g.chr22:37272079C>T c.767C>T c.(766-768)gCg>gTg p.A256V HNSC 22 37273817 37273817 + Silent SNP G G C TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr22:37273817G>C c.972G>C c.(970-972)ctG>ctC p.L324L KIPAN 22 37266586 37266587 + Splice_Site DEL TA TA - TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr22:37266586_37266587delTA c.e5+2 KIRP 22 37266586 37266587 + Splice_Site DEL TA TA - TCGA-Y8-A896-01A-11D-A35Z-10 TCGA-Y8-A896-10A-01D-A35Z-10 g.chr22:37266586_37266587delTA c.e5+2 LGG 22 37266498 37266498 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr22:37266498C>T c.384C>T c.(382-384)gaC>gaT p.D128D LGG 22 37268425 37268425 + Missense_Mutation SNP T T A TCGA-DH-A7UT-01A-12D-A34A-08 TCGA-DH-A7UT-10A-01D-A34A-08 g.chr22:37268425T>A c.585T>A c.(583-585)gaT>gaA p.D195E LIHC 22 37271708 37271708 + Missense_Mutation SNP G G C TCGA-DD-A4NE-01A-11D-A27I-10 TCGA-DD-A4NE-11A-11D-A27I-10 g.chr22:37271708G>C c.641G>C c.(640-642)gGa>gCa p.G214A LIHC 22 37271978 37271978 + Intron SNP C C T TCGA-DD-AAE9-01A-11D-A40R-10 TCGA-DD-AAE9-10A-01D-A40U-10 g.chr22:37271978C>T LIHC 22 37272032 37272032 + Intron SNP A A T TCGA-DD-AADM-01A-11D-A40R-10 TCGA-DD-AADM-10A-01D-A40U-10 g.chr22:37272032A>T LIHC 22 37272068 37272068 + Intron SNP T T A TCGA-DD-AAVU-01A-11D-A40R-10 TCGA-DD-AAVU-10A-01D-A40U-10 g.chr22:37272068T>A LIHC 22 37273743 37273743 + Missense_Mutation SNP G G T TCGA-DD-AADA-01A-11D-A40R-10 TCGA-DD-AADA-10A-01D-A40U-10 g.chr22:37273743G>T c.898G>T c.(898-900)Gat>Tat p.D300Y LUAD 22 37266471 37266471 + Silent SNP G G T TCGA-55-7725-01A-11D-2167-08 TCGA-55-7725-10A-01D-2167-08 g.chr22:37266471G>T c.357G>T c.(355-357)ctG>ctT p.L119L LUAD 22 37266571 37266571 + Missense_Mutation SNP C C T TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr22:37266571C>T c.457C>T c.(457-459)Cgc>Tgc p.R153C LUAD 22 37268425 37268425 + Silent SNP T T C TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chr22:37268425T>C c.585T>C c.(583-585)gaT>gaC p.D195D LUAD 22 37271902 37271902 + Intron SNP C C T TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr22:37271902C>T LUAD 22 37272127 37272127 + Missense_Mutation SNP A A T TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chr22:37272127A>T c.815A>T c.(814-816)gAg>gTg p.E272V LUAD 22 37273714 37273714 + Missense_Mutation SNP C C T TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr22:37273714C>T c.869C>T c.(868-870)gCt>gTt p.A290V LUSC 22 37260122 37260122 + Nonsense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr22:37260122C>A c.68C>A c.(67-69)tCg>tAg p.S23* OV 22 37263466 37263466 + Missense_Mutation SNP G G A TCGA-36-1578-01A-01W-0615-10 TCGA-36-1578-10A-01W-0615-10 g.chr22:37263466G>A c.304G>A c.(304-306)Gcc>Acc p.A102T PAAD 22 37273798 37273798 + Missense_Mutation SNP G G A TCGA-FB-AAQ6-01A-11D-A40W-08 TCGA-FB-AAQ6-11A-11D-A40W-08 g.chr22:37273798G>A c.953G>A c.(952-954)cGc>cAc p.R318H PRAD 22 37260173 37260173 + Splice_Site SNP T T C TCGA-XK-AAJ3-01A-11D-A41K-08 TCGA-XK-AAJ3-10A-01D-A41N-08 g.chr22:37260173T>C c.e2+2 PRAD 22 37261022 37261022 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:37261022G>A c.179G>A c.(178-180)cGc>cAc p.R60H PRAD 22 37263465 37263465 + Silent SNP C C T TCGA-QU-A6IN-01A-11D-A31L-08 TCGA-QU-A6IN-10A-01D-A31J-08 g.chr22:37263465C>T c.303C>T c.(301-303)atC>atT p.I101I PRAD 22 37263492 37263492 + Silent SNP C C T TCGA-G9-6343-01A-21D-1961-08 TCGA-G9-6343-10A-01D-1961-08 g.chr22:37263492C>T c.330C>T c.(328-330)aaC>aaT p.N110N PRAD 22 37266570 37266570 + Silent SNP G G A TCGA-KK-A7AU-01A-11D-A32B-08 TCGA-KK-A7AU-11A-11D-A329-08 g.chr22:37266570G>A c.456G>A c.(454-456)ccG>ccA p.P152P PRAD 22 37271705 37271705 + Missense_Mutation SNP G G A TCGA-HC-7749-01A-11D-2114-08 TCGA-HC-7749-10A-01D-2115-08 g.chr22:37271705G>A c.638G>A c.(637-639)cGg>cAg p.R213Q READ 22 37273855 37273855 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr22:37273855C>T c.1010C>T c.(1009-1011)aCg>aTg p.T337M SARC 22 37266539 37266539 + Missense_Mutation SNP A A T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 g.chr22:37266539A>T c.425A>T c.(424-426)cAg>cTg p.Q142L SARC 22 37273721 37273721 + Silent SNP G G A TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr22:37273721G>A c.876G>A c.(874-876)ggG>ggA p.G292G SKCM 22 37268389 37268389 + Silent SNP A A G TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr22:37268389A>G c.549A>G c.(547-549)ggA>ggG p.G183G SKCM 22 37268428 37268428 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:37268428G>A c.588G>A c.(586-588)gtG>gtA p.V196V SKCM 22 37271732 37271732 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr22:37271732C>T c.665C>T c.(664-666)tCc>tTc p.S222F SKCM 22 37271770 37271770 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr22:37271770G>A c.703G>A c.(703-705)Gac>Aac p.D235N SKCM 22 37271803 37271803 + Missense_Mutation SNP G G A TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr22:37271803G>A c.736G>A c.(736-738)Gaa>Aaa p.E246K SKCM 22 37271913 37271913 + Intron SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr22:37271913C>T SKCM 22 37271915 37271915 + Intron SNP C C T TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr22:37271915C>T SKCM 22 37271916 37271916 + Intron SNP C C T TCGA-D3-A3MU-06A-11D-A21A-08 TCGA-D3-A3MU-10A-01D-A21A-08 g.chr22:37271916C>T SKCM 22 37271929 37271929 + Intron SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr22:37271929C>T SKCM 22 37272064 37272064 + Intron SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:37272064C>T SKCM 22 37272105 37272105 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr22:37272105C>T c.793C>T c.(793-795)Ccc>Tcc p.P265S SKCM 22 37273673 37273673 + Silent SNP G G A TCGA-DA-A1I0-06A-11D-A20D-08 TCGA-DA-A1I0-10B-01D-A20D-08 g.chr22:37273673G>A c.828G>A c.(826-828)cgG>cgA p.R276R SKCM 22 37273719 37273719 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr22:37273719G>A c.874G>A c.(874-876)Ggg>Agg p.G292R SKCM 22 37273838 37273838 + Silent SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr22:37273838C>T c.993C>T c.(991-993)aaC>aaT p.N331N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 22 37261076 37261080 deletion of <=200bp AGAGC - 5_prime_UTR_variant BLCA-US 22 37261076 37261080 deletion of <=200bp AGAGC - frameshift_variant KS78 BLCA-US 22 37266564 37266564 single base substitution C G synonymous_variant L150L 450C>G BLCA-US 22 37266564 37266564 single base substitution C G synonymous_variant L47L 141C>G BLCA-US 22 37266564 37266564 single base substitution C G upstream_gene_variant BLCA-US 22 37268449 37268449 single base substitution C G missense_variant I100M 300C>G BLCA-US 22 37268449 37268449 single base substitution C G missense_variant I203M 609C>G BLCA-US 22 37268449 37268449 single base substitution C G missense_variant I66M 198C>G BOCA-FR 22 37273917 37273917 single base substitution C T 3_prime_UTR_variant BOCA-FR 22 37273917 37273917 single base substitution C T downstream_gene_variant BRCA-EU 22 37252547 37252547 single base substitution C T upstream_gene_variant BRCA-EU 22 37252618 37252618 single base substitution C T upstream_gene_variant BRCA-EU 22 37254089 37254089 single base substitution C T upstream_gene_variant BRCA-EU 22 37254115 37254115 single base substitution C A upstream_gene_variant BRCA-EU 22 37254775 37254775 single base substitution T G upstream_gene_variant BRCA-EU 22 37255265 37255265 single base substitution G T upstream_gene_variant BRCA-EU 22 37255577 37255577 single base substitution T G upstream_gene_variant BRCA-EU 22 37255637 37255637 single base substitution G C upstream_gene_variant BRCA-EU 22 37255716 37255716 single base substitution T C upstream_gene_variant BRCA-EU 22 37258778 37258778 single base substitution G C intron_variant BRCA-EU 22 37260243 37260243 single base substitution T G intron_variant BRCA-EU 22 37261309 37261309 single base substitution C A intron_variant BRCA-EU 22 37261374 37261374 single base substitution C A intron_variant BRCA-EU 22 37261378 37261378 single base substitution T A intron_variant BRCA-EU 22 37262201 37262201 single base substitution C A intron_variant BRCA-EU 22 37262421 37262421 single base substitution G A intron_variant BRCA-EU 22 37263276 37263276 single base substitution G A intron_variant BRCA-EU 22 37263276 37263276 single base substitution G A upstream_gene_variant BRCA-EU 22 37263468 37263468 single base substitution C A 5_prime_UTR_variant BRCA-EU 22 37263468 37263468 single base substitution C A synonymous_variant A102A 306C>A BRCA-EU 22 37263468 37263468 single base substitution C A upstream_gene_variant BRCA-EU 22 37264908 37264908 single base substitution C T intron_variant BRCA-EU 22 37264908 37264908 single base substitution C T upstream_gene_variant BRCA-EU 22 37265664 37265664 single base substitution C A intron_variant BRCA-EU 22 37265664 37265664 single base substitution C A upstream_gene_variant BRCA-EU 22 37266102 37266102 single base substitution G C intron_variant BRCA-EU 22 37266102 37266102 single base substitution G C upstream_gene_variant BRCA-EU 22 37266479 37266479 single base substitution G C missense_variant W122S 365G>C BRCA-EU 22 37266479 37266479 single base substitution G C missense_variant W19S 56G>C BRCA-EU 22 37266479 37266479 single base substitution G C upstream_gene_variant BRCA-EU 22 37266944 37266944 single base substitution C T intron_variant BRCA-EU 22 37266944 37266944 single base substitution C T upstream_gene_variant BRCA-EU 22 37267742 37267742 single base substitution G T synonymous_variant P173P 519G>T BRCA-EU 22 37267742 37267742 single base substitution G T synonymous_variant P70P 210G>T BRCA-EU 22 37267742 37267742 single base substitution G T upstream_gene_variant BRCA-EU 22 37272447 37272447 deletion of <=200bp C - downstream_gene_variant BRCA-EU 22 37272447 37272447 deletion of <=200bp C - intron_variant BRCA-EU 22 37272683 37272683 single base substitution G C downstream_gene_variant BRCA-EU 22 37272683 37272683 single base substitution G C intron_variant BRCA-EU 22 37273853 37273853 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 37273853 37273853 single base substitution C G downstream_gene_variant BRCA-EU 22 37273853 37273853 single base substitution C G missense_variant N336K 1008C>G BRCA-EU 22 37274764 37274764 deletion of <=200bp C - downstream_gene_variant BRCA-EU 22 37276756 37276756 single base substitution C T downstream_gene_variant BRCA-EU 22 37276800 37276800 single base substitution C T downstream_gene_variant BRCA-EU 22 37277875 37277875 single base substitution G A downstream_gene_variant BRCA-EU 22 37278006 37278006 single base substitution G A downstream_gene_variant BRCA-EU 22 37278963 37278963 single base substitution T A downstream_gene_variant BRCA-EU 22 37279052 37279052 single base substitution G C downstream_gene_variant BRCA-FR 22 37254115 37254115 single base substitution C A upstream_gene_variant BRCA-FR 22 37266944 37266944 single base substitution C T intron_variant BRCA-FR 22 37266944 37266944 single base substitution C T upstream_gene_variant BRCA-FR 22 37273035 37273035 single base substitution C G downstream_gene_variant BRCA-FR 22 37273035 37273035 single base substitution C G intron_variant BRCA-FR 22 37277072 37277072 single base substitution G A downstream_gene_variant BRCA-UK 22 37268124 37268124 single base substitution C T intron_variant BRCA-UK 22 37268124 37268124 single base substitution C T upstream_gene_variant BRCA-UK 22 37273682 37273682 single base substitution G A 3_prime_UTR_variant BRCA-UK 22 37273682 37273682 single base substitution G A downstream_gene_variant BRCA-UK 22 37273682 37273682 single base substitution G A synonymous_variant Q279Q 837G>A BRCA-UK 22 37278006 37278006 single base substitution G A downstream_gene_variant BRCA-US 22 37260160 37260160 single base substitution A C intron_variant BRCA-US 22 37260160 37260160 single base substitution A C missense_variant T36P 106A>C BRCA-US 22 37263476 37263476 single base substitution G A missense_variant R105Q 314G>A BRCA-US 22 37263476 37263476 single base substitution G A missense_variant R2Q 5G>A BRCA-US 22 37263476 37263476 single base substitution G A upstream_gene_variant BRCA-US 22 37266473 37266473 single base substitution C G missense_variant P120R 359C>G BRCA-US 22 37266473 37266473 single base substitution C G missense_variant P17R 50C>G BRCA-US 22 37266473 37266473 single base substitution C G upstream_gene_variant BRCA-US 22 37272009 37272009 single base substitution C A downstream_gene_variant BRCA-US 22 37272009 37272009 single base substitution C A intron_variant BRCA-US 22 37272009 37272009 single base substitution C A missense_variant F177L 531C>A BRCA-US 22 37272009 37272009 single base substitution C A missense_variant F314L 942C>A BTCA-JP 22 37260223 37260243 deletion of <=200bp CTGACCTCTGAACCTTGCCCT - intron_variant BTCA-JP 22 37263475 37263475 single base substitution C T missense_variant R105W 313C>T BTCA-JP 22 37263475 37263475 single base substitution C T missense_variant R2W 4C>T BTCA-JP 22 37263475 37263475 single base substitution C T upstream_gene_variant BTCA-JP 22 37266516 37266516 single base substitution C A stop_gained Y134* 402C>A BTCA-JP 22 37266516 37266516 single base substitution C A stop_gained Y31* 93C>A BTCA-JP 22 37266516 37266516 single base substitution C A upstream_gene_variant CESC-US 22 37260991 37260991 single base substitution G C 5_prime_UTR_variant CESC-US 22 37260991 37260991 single base substitution G C missense_variant G50R 148G>C CESC-US 22 37273686 37273686 single base substitution G C 3_prime_UTR_variant CESC-US 22 37273686 37273686 single base substitution G C downstream_gene_variant CESC-US 22 37273686 37273686 single base substitution G C missense_variant E281Q 841G>C CLLE-ES 22 37261678 37261678 single base substitution G A intron_variant CLLE-ES 22 37275761 37275761 single base substitution A G downstream_gene_variant CLLE-ES 22 37276004 37276004 single base substitution C G downstream_gene_variant COAD-US 22 37260141 37260141 single base substitution C T intron_variant COAD-US 22 37260141 37260141 single base substitution C T synonymous_variant I29I 87C>T COAD-US 22 37267715 37267715 single base substitution C T synonymous_variant G164G 492C>T COAD-US 22 37267715 37267715 single base substitution C T synonymous_variant G61G 183C>T COAD-US 22 37267715 37267715 single base substitution C T upstream_gene_variant COAD-US 22 37273718 37273718 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 22 37273718 37273718 deletion of <=200bp G - downstream_gene_variant COAD-US 22 37273718 37273718 deletion of <=200bp G - frameshift_variant E291 COAD-US 22 37273855 37273855 single base substitution C T 3_prime_UTR_variant COAD-US 22 37273855 37273855 single base substitution C T downstream_gene_variant COAD-US 22 37273855 37273855 single base substitution C T missense_variant T337M 1010C>T COCA-CN 22 37266473 37266473 single base substitution C T missense_variant P120L 359C>T COCA-CN 22 37266473 37266473 single base substitution C T missense_variant P17L 50C>T COCA-CN 22 37266473 37266473 single base substitution C T upstream_gene_variant COCA-CN 22 37267545 37267545 single base substitution G A intron_variant COCA-CN 22 37267545 37267545 single base substitution G A upstream_gene_variant COCA-CN 22 37267747 37267747 single base substitution C A missense_variant A175E 524C>A COCA-CN 22 37267747 37267747 single base substitution C A missense_variant A72E 215C>A COCA-CN 22 37267747 37267747 single base substitution C A upstream_gene_variant COCA-CN 22 37268986 37268986 single base substitution G A intron_variant COCA-CN 22 37269157 37269157 single base substitution C G intron_variant COCA-CN 22 37269407 37269407 single base substitution T G intron_variant COCA-CN 22 37271934 37271934 single base substitution T G downstream_gene_variant COCA-CN 22 37271934 37271934 single base substitution T G intron_variant COCA-CN 22 37271934 37271934 single base substitution T G missense_variant S152R 456T>G COCA-CN 22 37271934 37271934 single base substitution T G missense_variant S289R 867T>G COCA-CN 22 37273699 37273699 single base substitution T C 3_prime_UTR_variant COCA-CN 22 37273699 37273699 single base substitution T C downstream_gene_variant COCA-CN 22 37273699 37273699 single base substitution T C missense_variant L285P 854T>C EOPC-DE 22 37267674 37267674 single base substitution C A intron_variant EOPC-DE 22 37267674 37267674 single base substitution C A upstream_gene_variant ESAD-UK 22 37252552 37252552 single base substitution T G upstream_gene_variant ESAD-UK 22 37254544 37254544 single base substitution G T upstream_gene_variant ESAD-UK 22 37256644 37256644 single base substitution G A upstream_gene_variant ESAD-UK 22 37257668 37257668 single base substitution A C intron_variant ESAD-UK 22 37257818 37257818 single base substitution G T intron_variant ESAD-UK 22 37258505 37258505 single base substitution T G intron_variant ESAD-UK 22 37258826 37258826 single base substitution G A intron_variant ESAD-UK 22 37259193 37259193 single base substitution C T intron_variant ESAD-UK 22 37259251 37259251 single base substitution G A intron_variant ESAD-UK 22 37260634 37260634 single base substitution C T intron_variant ESAD-UK 22 37262220 37262220 single base substitution C T intron_variant ESAD-UK 22 37264615 37264615 deletion of <=200bp G - intron_variant ESAD-UK 22 37264615 37264615 deletion of <=200bp G - upstream_gene_variant ESAD-UK 22 37265623 37265623 single base substitution T C intron_variant ESAD-UK 22 37265623 37265623 single base substitution T C upstream_gene_variant ESAD-UK 22 37266728 37266728 single base substitution G A intron_variant ESAD-UK 22 37266728 37266728 single base substitution G A upstream_gene_variant ESAD-UK 22 37267640 37267640 single base substitution A G intron_variant ESAD-UK 22 37267640 37267640 single base substitution A G upstream_gene_variant ESAD-UK 22 37269868 37269868 single base substitution G T intron_variant ESAD-UK 22 37269961 37269961 single base substitution C A intron_variant ESAD-UK 22 37272630 37272630 single base substitution T C downstream_gene_variant ESAD-UK 22 37272630 37272630 single base substitution T C intron_variant ESAD-UK 22 37273077 37273077 single base substitution G T downstream_gene_variant ESAD-UK 22 37273077 37273077 single base substitution G T intron_variant ESAD-UK 22 37273459 37273459 single base substitution G A downstream_gene_variant ESAD-UK 22 37273459 37273459 single base substitution G A intron_variant ESAD-UK 22 37273498 37273498 single base substitution C T downstream_gene_variant ESAD-UK 22 37273498 37273498 single base substitution C T intron_variant ESAD-UK 22 37274018 37274018 single base substitution T A 3_prime_UTR_variant ESAD-UK 22 37274018 37274018 single base substitution T A downstream_gene_variant ESAD-UK 22 37275027 37275027 single base substitution G T downstream_gene_variant ESAD-UK 22 37275058 37275058 single base substitution C T downstream_gene_variant ESAD-UK 22 37276738 37276738 single base substitution C T downstream_gene_variant ESAD-UK 22 37277014 37277015 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 22 37277450 37277450 single base substitution A T downstream_gene_variant ESAD-UK 22 37278701 37278701 single base substitution T G downstream_gene_variant LAML-KR 22 37254511 37254511 single base substitution G A upstream_gene_variant LICA-CN 22 37271883 37271883 single base substitution G T downstream_gene_variant LICA-CN 22 37271883 37271883 single base substitution G T intron_variant LICA-CN 22 37271883 37271883 single base substitution G T synonymous_variant L135L 405G>T LICA-CN 22 37271883 37271883 single base substitution G T synonymous_variant L272L 816G>T LICA-FR 22 37263153 37263153 insertion of <=200bp - GTGTGTGTGT intron_variant LICA-FR 22 37265259 37265259 single base substitution A G intron_variant LICA-FR 22 37265259 37265259 single base substitution A G upstream_gene_variant LICA-FR 22 37271836 37271836 single base substitution T C intron_variant LICA-FR 22 37271836 37271836 single base substitution T C missense_variant W120R 358T>C LICA-FR 22 37271836 37271836 single base substitution T C missense_variant W154R 460T>C LICA-FR 22 37271836 37271836 single base substitution T C missense_variant W257R 769T>C LICA-FR 22 37271874 37271874 single base substitution A G intron_variant LICA-FR 22 37271874 37271874 single base substitution A G synonymous_variant L132L 396A>G LICA-FR 22 37271874 37271874 single base substitution A G synonymous_variant L166L 498A>G LICA-FR 22 37271874 37271874 single base substitution A G synonymous_variant L269L 807A>G LICA-FR 22 37277769 37277769 single base substitution G C downstream_gene_variant LIHC-US 22 37271708 37271708 single base substitution G C missense_variant G111A 332G>C LIHC-US 22 37271708 37271708 single base substitution G C missense_variant G214A 641G>C LIHC-US 22 37271708 37271708 single base substitution G C missense_variant G77A 230G>C LINC-JP 22 37260888 37260888 single base substitution C T intron_variant LINC-JP 22 37271843 37271843 single base substitution G T intron_variant LINC-JP 22 37271843 37271843 single base substitution G T missense_variant G122V 365G>T LINC-JP 22 37271843 37271843 single base substitution G T missense_variant G156V 467G>T LINC-JP 22 37271843 37271843 single base substitution G T missense_variant G259V 776G>T LIRI-JP 22 37258637 37258637 single base substitution C T intron_variant LIRI-JP 22 37260410 37260410 single base substitution C T intron_variant LIRI-JP 22 37262084 37262084 single base substitution C T intron_variant LIRI-JP 22 37262251 37262251 single base substitution T C intron_variant LIRI-JP 22 37264070 37264070 single base substitution A G intron_variant LIRI-JP 22 37264070 37264070 single base substitution A G upstream_gene_variant LIRI-JP 22 37265518 37265518 single base substitution T C intron_variant LIRI-JP 22 37265518 37265518 single base substitution T C upstream_gene_variant LIRI-JP 22 37266321 37266321 single base substitution C G intron_variant LIRI-JP 22 37266321 37266321 single base substitution C G upstream_gene_variant LIRI-JP 22 37268017 37268017 single base substitution C T intron_variant LIRI-JP 22 37268017 37268017 single base substitution C T upstream_gene_variant LIRI-JP 22 37270702 37270702 single base substitution G A intron_variant LIRI-JP 22 37272221 37272221 single base substitution G T downstream_gene_variant LIRI-JP 22 37272221 37272221 single base substitution G T intron_variant LIRI-JP 22 37272313 37272313 single base substitution G C downstream_gene_variant LIRI-JP 22 37272313 37272313 single base substitution G C intron_variant LIRI-JP 22 37273975 37273975 single base substitution G A 3_prime_UTR_variant LIRI-JP 22 37273975 37273975 single base substitution G A downstream_gene_variant LIRI-JP 22 37275131 37275131 single base substitution G A downstream_gene_variant LIRI-JP 22 37278750 37278750 single base substitution T G downstream_gene_variant LUSC-CN 22 37271891 37271891 single base substitution C T downstream_gene_variant LUSC-CN 22 37271891 37271891 single base substitution C T intron_variant LUSC-CN 22 37271891 37271891 single base substitution C T missense_variant T138I 413C>T LUSC-CN 22 37271891 37271891 single base substitution C T missense_variant T275I 824C>T LUSC-KR 22 37252687 37252687 single base substitution A G upstream_gene_variant LUSC-KR 22 37255451 37255451 single base substitution C A upstream_gene_variant LUSC-KR 22 37260267 37260267 single base substitution C T intron_variant LUSC-KR 22 37261964 37261964 single base substitution C G intron_variant LUSC-KR 22 37262038 37262038 single base substitution C G intron_variant LUSC-KR 22 37264095 37264095 single base substitution C A intron_variant LUSC-KR 22 37264095 37264095 single base substitution C A upstream_gene_variant LUSC-KR 22 37264419 37264419 single base substitution C T intron_variant LUSC-KR 22 37264419 37264419 single base substitution C T upstream_gene_variant LUSC-KR 22 37267065 37267065 single base substitution C A intron_variant LUSC-KR 22 37267065 37267065 single base substitution C A upstream_gene_variant LUSC-KR 22 37267774 37267774 single base substitution C A intron_variant LUSC-KR 22 37267774 37267774 single base substitution C A upstream_gene_variant LUSC-KR 22 37268812 37268812 single base substitution G T intron_variant LUSC-KR 22 37269917 37269917 single base substitution A T intron_variant LUSC-KR 22 37271196 37271196 single base substitution C T intron_variant LUSC-KR 22 37275474 37275474 single base substitution C T downstream_gene_variant LUSC-KR 22 37276388 37276388 single base substitution T A downstream_gene_variant LUSC-KR 22 37276397 37276397 single base substitution A G downstream_gene_variant LUSC-KR 22 37277465 37277465 single base substitution G C downstream_gene_variant LUSC-US 22 37260122 37260122 single base substitution C A intron_variant LUSC-US 22 37260122 37260122 single base substitution C A stop_gained S23* 68C>A MALY-DE 22 37252503 37252503 single base substitution G A upstream_gene_variant MALY-DE 22 37256268 37256268 single base substitution G A upstream_gene_variant MALY-DE 22 37267999 37267999 single base substitution A G intron_variant MALY-DE 22 37267999 37267999 single base substitution A G upstream_gene_variant MELA-AU 22 37252123 37252124 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 37252410 37252410 single base substitution C T upstream_gene_variant MELA-AU 22 37252563 37252563 single base substitution G A upstream_gene_variant MELA-AU 22 37252573 37252573 single base substitution G A upstream_gene_variant MELA-AU 22 37252576 37252576 single base substitution G A upstream_gene_variant MELA-AU 22 37252577 37252577 single base substitution G A upstream_gene_variant MELA-AU 22 37252588 37252588 single base substitution C T upstream_gene_variant MELA-AU 22 37252593 37252593 single base substitution C T upstream_gene_variant MELA-AU 22 37252601 37252601 single base substitution C T upstream_gene_variant MELA-AU 22 37252617 37252617 single base substitution C T upstream_gene_variant MELA-AU 22 37253129 37253129 single base substitution G A upstream_gene_variant MELA-AU 22 37253261 37253261 single base substitution G A upstream_gene_variant MELA-AU 22 37253395 37253395 single base substitution G A upstream_gene_variant MELA-AU 22 37253830 37253830 single base substitution C T upstream_gene_variant MELA-AU 22 37253910 37253910 single base substitution T C upstream_gene_variant MELA-AU 22 37254165 37254165 single base substitution C G upstream_gene_variant MELA-AU 22 37254454 37254454 single base substitution G A upstream_gene_variant MELA-AU 22 37254506 37254507 multiple base substitution (>=2bp and <=200bp) CC TA upstream_gene_variant MELA-AU 22 37254593 37254593 single base substitution T C upstream_gene_variant MELA-AU 22 37254644 37254644 single base substitution G A upstream_gene_variant MELA-AU 22 37254659 37254659 single base substitution G A upstream_gene_variant MELA-AU 22 37254770 37254770 single base substitution C T upstream_gene_variant MELA-AU 22 37254782 37254782 single base substitution C T upstream_gene_variant MELA-AU 22 37254788 37254788 single base substitution G A upstream_gene_variant MELA-AU 22 37254824 37254824 single base substitution T C upstream_gene_variant MELA-AU 22 37254974 37254974 single base substitution G A upstream_gene_variant MELA-AU 22 37255162 37255162 single base substitution C T upstream_gene_variant MELA-AU 22 37255253 37255253 single base substitution C T upstream_gene_variant MELA-AU 22 37255287 37255287 single base substitution C T upstream_gene_variant MELA-AU 22 37255960 37255960 single base substitution G A upstream_gene_variant MELA-AU 22 37256256 37256256 single base substitution G A upstream_gene_variant MELA-AU 22 37256348 37256348 single base substitution G A upstream_gene_variant MELA-AU 22 37256593 37256593 single base substitution G A upstream_gene_variant MELA-AU 22 37256709 37256709 single base substitution G C upstream_gene_variant MELA-AU 22 37257140 37257140 single base substitution G A 5_prime_UTR_variant MELA-AU 22 37257328 37257328 single base substitution C T intron_variant MELA-AU 22 37257405 37257405 single base substitution G A intron_variant MELA-AU 22 37257629 37257629 single base substitution C T intron_variant MELA-AU 22 37257722 37257722 single base substitution C T intron_variant MELA-AU 22 37257749 37257749 single base substitution G A intron_variant MELA-AU 22 37257912 37257912 single base substitution G A intron_variant MELA-AU 22 37257916 37257916 single base substitution G A intron_variant MELA-AU 22 37257941 37257941 single base substitution G A intron_variant MELA-AU 22 37258007 37258007 single base substitution C T intron_variant MELA-AU 22 37258131 37258131 single base substitution C T intron_variant MELA-AU 22 37258176 37258176 single base substitution C T intron_variant MELA-AU 22 37258298 37258298 single base substitution G A intron_variant MELA-AU 22 37258717 37258717 single base substitution G A intron_variant MELA-AU 22 37258834 37258834 single base substitution C T intron_variant MELA-AU 22 37258841 37258841 single base substitution G A intron_variant MELA-AU 22 37258844 37258844 single base substitution G A intron_variant MELA-AU 22 37258964 37258964 single base substitution C T intron_variant MELA-AU 22 37259080 37259080 single base substitution G A intron_variant MELA-AU 22 37259402 37259402 single base substitution G A intron_variant MELA-AU 22 37259923 37259923 single base substitution C T intron_variant MELA-AU 22 37260066 37260066 single base substitution C T intron_variant MELA-AU 22 37260383 37260383 single base substitution G A intron_variant MELA-AU 22 37260397 37260397 single base substitution T G intron_variant MELA-AU 22 37260490 37260490 single base substitution C T intron_variant MELA-AU 22 37260536 37260536 single base substitution G A intron_variant MELA-AU 22 37260696 37260696 single base substitution C G intron_variant MELA-AU 22 37260742 37260742 single base substitution C T intron_variant MELA-AU 22 37260853 37260853 single base substitution C T intron_variant MELA-AU 22 37260858 37260858 single base substitution C T intron_variant MELA-AU 22 37260893 37260893 single base substitution C T intron_variant MELA-AU 22 37260902 37260902 single base substitution C T intron_variant MELA-AU 22 37260992 37260992 single base substitution G A 5_prime_UTR_variant MELA-AU 22 37260992 37260992 single base substitution G A missense_variant G50E 149G>A MELA-AU 22 37261306 37261306 single base substitution C G intron_variant MELA-AU 22 37261442 37261442 single base substitution C T intron_variant MELA-AU 22 37261638 37261638 single base substitution C T intron_variant MELA-AU 22 37261719 37261719 single base substitution A G intron_variant MELA-AU 22 37261849 37261849 single base substitution C T intron_variant MELA-AU 22 37261930 37261930 single base substitution G A intron_variant MELA-AU 22 37261950 37261950 single base substitution G A intron_variant MELA-AU 22 37261993 37261993 single base substitution C T intron_variant MELA-AU 22 37262042 37262042 single base substitution C T intron_variant MELA-AU 22 37262148 37262148 single base substitution C T intron_variant MELA-AU 22 37262192 37262192 single base substitution C T intron_variant MELA-AU 22 37262207 37262207 single base substitution C T intron_variant MELA-AU 22 37262213 37262213 single base substitution C T intron_variant MELA-AU 22 37262277 37262277 single base substitution C T intron_variant MELA-AU 22 37262318 37262318 single base substitution G A intron_variant MELA-AU 22 37262463 37262463 single base substitution C T intron_variant MELA-AU 22 37262504 37262504 single base substitution C T intron_variant MELA-AU 22 37262728 37262728 single base substitution C T intron_variant MELA-AU 22 37262830 37262830 single base substitution T A intron_variant MELA-AU 22 37262852 37262852 single base substitution T G intron_variant MELA-AU 22 37263262 37263262 single base substitution G A intron_variant MELA-AU 22 37263262 37263262 single base substitution G A upstream_gene_variant MELA-AU 22 37263375 37263375 single base substitution C T intron_variant MELA-AU 22 37263375 37263375 single base substitution C T upstream_gene_variant MELA-AU 22 37263517 37263517 single base substitution C T intron_variant MELA-AU 22 37263517 37263517 single base substitution C T upstream_gene_variant MELA-AU 22 37263535 37263535 single base substitution G A intron_variant MELA-AU 22 37263535 37263535 single base substitution G A upstream_gene_variant MELA-AU 22 37263593 37263593 single base substitution G A intron_variant MELA-AU 22 37263593 37263593 single base substitution G A upstream_gene_variant MELA-AU 22 37263812 37263812 single base substitution C T intron_variant MELA-AU 22 37263812 37263812 single base substitution C T upstream_gene_variant MELA-AU 22 37263882 37263882 single base substitution G A intron_variant MELA-AU 22 37263882 37263882 single base substitution G A upstream_gene_variant MELA-AU 22 37263915 37263915 single base substitution G A intron_variant MELA-AU 22 37263915 37263915 single base substitution G A upstream_gene_variant MELA-AU 22 37263989 37263989 single base substitution T A intron_variant MELA-AU 22 37263989 37263989 single base substitution T A upstream_gene_variant MELA-AU 22 37263991 37263991 single base substitution C T intron_variant MELA-AU 22 37263991 37263991 single base substitution C T upstream_gene_variant MELA-AU 22 37263992 37263992 single base substitution C T intron_variant MELA-AU 22 37263992 37263992 single base substitution C T upstream_gene_variant MELA-AU 22 37264057 37264057 single base substitution C T intron_variant MELA-AU 22 37264057 37264057 single base substitution C T upstream_gene_variant MELA-AU 22 37264102 37264102 single base substitution G A intron_variant MELA-AU 22 37264102 37264102 single base substitution G A upstream_gene_variant MELA-AU 22 37264138 37264138 single base substitution G A intron_variant MELA-AU 22 37264138 37264138 single base substitution G A upstream_gene_variant MELA-AU 22 37264143 37264143 single base substitution G A intron_variant MELA-AU 22 37264143 37264143 single base substitution G A upstream_gene_variant MELA-AU 22 37264306 37264306 single base substitution G A intron_variant MELA-AU 22 37264306 37264306 single base substitution G A upstream_gene_variant MELA-AU 22 37264558 37264558 single base substitution G A intron_variant MELA-AU 22 37264558 37264558 single base substitution G A upstream_gene_variant MELA-AU 22 37264589 37264589 single base substitution G A intron_variant MELA-AU 22 37264589 37264589 single base substitution G A upstream_gene_variant MELA-AU 22 37264817 37264817 single base substitution C T intron_variant MELA-AU 22 37264817 37264817 single base substitution C T upstream_gene_variant MELA-AU 22 37264827 37264827 single base substitution C T intron_variant MELA-AU 22 37264827 37264827 single base substitution C T upstream_gene_variant MELA-AU 22 37264854 37264854 single base substitution C T intron_variant MELA-AU 22 37264854 37264854 single base substitution C T upstream_gene_variant MELA-AU 22 37265131 37265131 single base substitution A G intron_variant MELA-AU 22 37265131 37265131 single base substitution A G upstream_gene_variant MELA-AU 22 37265331 37265331 single base substitution G A intron_variant MELA-AU 22 37265331 37265331 single base substitution G A upstream_gene_variant MELA-AU 22 37265407 37265407 single base substitution A T intron_variant MELA-AU 22 37265407 37265407 single base substitution A T upstream_gene_variant MELA-AU 22 37265546 37265546 single base substitution C T intron_variant MELA-AU 22 37265546 37265546 single base substitution C T upstream_gene_variant MELA-AU 22 37265605 37265605 single base substitution C T intron_variant MELA-AU 22 37265605 37265605 single base substitution C T upstream_gene_variant MELA-AU 22 37265652 37265652 single base substitution A G intron_variant MELA-AU 22 37265652 37265652 single base substitution A G upstream_gene_variant MELA-AU 22 37265774 37265774 single base substitution G A intron_variant MELA-AU 22 37265774 37265774 single base substitution G A upstream_gene_variant MELA-AU 22 37266051 37266051 single base substitution G A intron_variant MELA-AU 22 37266051 37266051 single base substitution G A upstream_gene_variant MELA-AU 22 37266065 37266065 single base substitution C T intron_variant MELA-AU 22 37266065 37266065 single base substitution C T upstream_gene_variant MELA-AU 22 37266093 37266093 single base substitution G A intron_variant MELA-AU 22 37266093 37266093 single base substitution G A upstream_gene_variant MELA-AU 22 37266153 37266153 single base substitution G A intron_variant MELA-AU 22 37266153 37266153 single base substitution G A upstream_gene_variant MELA-AU 22 37266237 37266237 single base substitution C T intron_variant MELA-AU 22 37266237 37266237 single base substitution C T upstream_gene_variant MELA-AU 22 37266839 37266839 single base substitution C G intron_variant MELA-AU 22 37266839 37266839 single base substitution C G upstream_gene_variant MELA-AU 22 37266885 37266885 single base substitution G A intron_variant MELA-AU 22 37266885 37266885 single base substitution G A upstream_gene_variant MELA-AU 22 37266905 37266905 single base substitution G A intron_variant MELA-AU 22 37266905 37266905 single base substitution G A upstream_gene_variant MELA-AU 22 37266978 37266978 single base substitution C T intron_variant MELA-AU 22 37266978 37266978 single base substitution C T upstream_gene_variant MELA-AU 22 37267315 37267315 single base substitution A G intron_variant MELA-AU 22 37267315 37267315 single base substitution A G upstream_gene_variant MELA-AU 22 37267326 37267326 single base substitution C T intron_variant MELA-AU 22 37267326 37267326 single base substitution C T upstream_gene_variant MELA-AU 22 37267508 37267509 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 22 37267508 37267509 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 22 37267657 37267657 single base substitution A G intron_variant MELA-AU 22 37267657 37267657 single base substitution A G upstream_gene_variant MELA-AU 22 37267825 37267825 single base substitution G C intron_variant MELA-AU 22 37267825 37267825 single base substitution G C upstream_gene_variant MELA-AU 22 37267882 37267882 single base substitution G A intron_variant MELA-AU 22 37267882 37267882 single base substitution G A upstream_gene_variant MELA-AU 22 37267919 37267919 single base substitution C T intron_variant MELA-AU 22 37267919 37267919 single base substitution C T upstream_gene_variant MELA-AU 22 37268342 37268342 single base substitution C T intron_variant MELA-AU 22 37268346 37268346 single base substitution C T intron_variant MELA-AU 22 37268462 37268462 single base substitution C T synonymous_variant L105L 313C>T MELA-AU 22 37268462 37268462 single base substitution C T synonymous_variant L208L 622C>T MELA-AU 22 37268462 37268462 single base substitution C T synonymous_variant L71L 211C>T MELA-AU 22 37268981 37268981 single base substitution G A intron_variant MELA-AU 22 37269028 37269028 single base substitution G A intron_variant MELA-AU 22 37269049 37269049 single base substitution G A intron_variant MELA-AU 22 37269220 37269220 single base substitution G A intron_variant MELA-AU 22 37269253 37269253 single base substitution G A intron_variant MELA-AU 22 37269397 37269397 single base substitution G A intron_variant MELA-AU 22 37269577 37269578 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 37270415 37270415 single base substitution G A intron_variant MELA-AU 22 37270447 37270447 single base substitution C T intron_variant MELA-AU 22 37270561 37270561 single base substitution G A intron_variant MELA-AU 22 37270591 37270591 single base substitution C T intron_variant MELA-AU 22 37270619 37270619 single base substitution C T intron_variant MELA-AU 22 37270716 37270716 single base substitution C T intron_variant MELA-AU 22 37270914 37270914 single base substitution C T intron_variant MELA-AU 22 37271040 37271040 single base substitution C T intron_variant MELA-AU 22 37271052 37271052 single base substitution G A intron_variant MELA-AU 22 37271053 37271053 single base substitution G A intron_variant MELA-AU 22 37271843 37271843 single base substitution G A intron_variant MELA-AU 22 37271843 37271843 single base substitution G A missense_variant G122E 365G>A MELA-AU 22 37271843 37271843 single base substitution G A missense_variant G156E 467G>A MELA-AU 22 37271843 37271843 single base substitution G A missense_variant G259E 776G>A MELA-AU 22 37272016 37272016 single base substitution C T downstream_gene_variant MELA-AU 22 37272016 37272016 single base substitution C T intron_variant MELA-AU 22 37272016 37272016 single base substitution C T missense_variant P180S 538C>T MELA-AU 22 37272016 37272016 single base substitution C T missense_variant P317S 949C>T MELA-AU 22 37272113 37272113 single base substitution G A downstream_gene_variant MELA-AU 22 37272113 37272113 single base substitution G A stop_retained_variant *212* 635G>A MELA-AU 22 37272113 37272113 single base substitution G A stop_retained_variant *349* 1046G>A MELA-AU 22 37272113 37272113 single base substitution G A synonymous_variant L267L 801G>A MELA-AU 22 37272567 37272567 single base substitution C T downstream_gene_variant MELA-AU 22 37272567 37272567 single base substitution C T intron_variant MELA-AU 22 37272574 37272574 single base substitution G A downstream_gene_variant MELA-AU 22 37272574 37272574 single base substitution G A intron_variant MELA-AU 22 37272848 37272848 single base substitution G A downstream_gene_variant MELA-AU 22 37272848 37272848 single base substitution G A intron_variant MELA-AU 22 37272979 37272979 single base substitution C T downstream_gene_variant MELA-AU 22 37272979 37272979 single base substitution C T intron_variant MELA-AU 22 37273009 37273009 single base substitution C T downstream_gene_variant MELA-AU 22 37273009 37273009 single base substitution C T intron_variant MELA-AU 22 37273050 37273050 single base substitution C T downstream_gene_variant MELA-AU 22 37273050 37273050 single base substitution C T intron_variant MELA-AU 22 37273162 37273162 single base substitution C T downstream_gene_variant MELA-AU 22 37273162 37273162 single base substitution C T intron_variant MELA-AU 22 37273178 37273178 single base substitution C T downstream_gene_variant MELA-AU 22 37273178 37273178 single base substitution C T intron_variant MELA-AU 22 37273536 37273536 single base substitution G A downstream_gene_variant MELA-AU 22 37273536 37273536 single base substitution G A intron_variant MELA-AU 22 37273615 37273615 single base substitution C T downstream_gene_variant MELA-AU 22 37273615 37273615 single base substitution C T intron_variant MELA-AU 22 37273878 37273878 single base substitution C T 3_prime_UTR_variant MELA-AU 22 37273878 37273878 single base substitution C T downstream_gene_variant MELA-AU 22 37274179 37274179 single base substitution C T downstream_gene_variant MELA-AU 22 37274204 37274204 single base substitution G A downstream_gene_variant MELA-AU 22 37274238 37274238 single base substitution C T downstream_gene_variant MELA-AU 22 37274242 37274242 single base substitution C T downstream_gene_variant MELA-AU 22 37274411 37274411 single base substitution G A downstream_gene_variant MELA-AU 22 37274414 37274414 single base substitution T C downstream_gene_variant MELA-AU 22 37274445 37274445 single base substitution G A downstream_gene_variant MELA-AU 22 37274466 37274466 single base substitution G A downstream_gene_variant MELA-AU 22 37274516 37274516 single base substitution C T downstream_gene_variant MELA-AU 22 37274594 37274594 single base substitution C T downstream_gene_variant MELA-AU 22 37274599 37274599 single base substitution G A downstream_gene_variant MELA-AU 22 37274621 37274621 single base substitution G A downstream_gene_variant MELA-AU 22 37274629 37274629 single base substitution T G downstream_gene_variant MELA-AU 22 37274633 37274633 single base substitution A T downstream_gene_variant MELA-AU 22 37274706 37274706 single base substitution C T downstream_gene_variant MELA-AU 22 37274786 37274786 single base substitution G A downstream_gene_variant MELA-AU 22 37274842 37274842 single base substitution C T downstream_gene_variant MELA-AU 22 37274919 37274919 single base substitution A C downstream_gene_variant MELA-AU 22 37274950 37274950 single base substitution C T downstream_gene_variant MELA-AU 22 37275248 37275248 single base substitution C A downstream_gene_variant MELA-AU 22 37275427 37275428 multiple base substitution (>=2bp and <=200bp) CT TG downstream_gene_variant MELA-AU 22 37275709 37275709 single base substitution C T downstream_gene_variant MELA-AU 22 37275732 37275732 single base substitution G A downstream_gene_variant MELA-AU 22 37275975 37275976 multiple base substitution (>=2bp and <=200bp) TG CT downstream_gene_variant MELA-AU 22 37276090 37276090 single base substitution G A downstream_gene_variant MELA-AU 22 37276091 37276091 single base substitution G A downstream_gene_variant MELA-AU 22 37276092 37276092 single base substitution G A downstream_gene_variant MELA-AU 22 37276101 37276101 single base substitution G A downstream_gene_variant MELA-AU 22 37276171 37276171 single base substitution G A downstream_gene_variant MELA-AU 22 37276178 37276178 single base substitution C T downstream_gene_variant MELA-AU 22 37276303 37276303 single base substitution C T downstream_gene_variant MELA-AU 22 37276378 37276378 single base substitution G A downstream_gene_variant MELA-AU 22 37276386 37276386 single base substitution G A downstream_gene_variant MELA-AU 22 37276622 37276622 single base substitution G A downstream_gene_variant MELA-AU 22 37276662 37276662 single base substitution C T downstream_gene_variant MELA-AU 22 37276717 37276717 single base substitution C T downstream_gene_variant MELA-AU 22 37276799 37276799 single base substitution C T downstream_gene_variant MELA-AU 22 37276817 37276817 single base substitution C T downstream_gene_variant MELA-AU 22 37276819 37276819 single base substitution C T downstream_gene_variant MELA-AU 22 37276863 37276863 single base substitution C T downstream_gene_variant MELA-AU 22 37276882 37276882 single base substitution C T downstream_gene_variant MELA-AU 22 37276915 37276915 single base substitution C T downstream_gene_variant MELA-AU 22 37277087 37277087 single base substitution G A downstream_gene_variant MELA-AU 22 37277178 37277178 single base substitution C T downstream_gene_variant MELA-AU 22 37277350 37277350 single base substitution C T downstream_gene_variant MELA-AU 22 37277628 37277628 single base substitution G A downstream_gene_variant MELA-AU 22 37277654 37277654 single base substitution G A downstream_gene_variant MELA-AU 22 37277675 37277675 single base substitution G A downstream_gene_variant MELA-AU 22 37277677 37277677 single base substitution A G downstream_gene_variant MELA-AU 22 37277797 37277797 single base substitution G A downstream_gene_variant MELA-AU 22 37277916 37277916 single base substitution G A downstream_gene_variant MELA-AU 22 37278385 37278385 single base substitution G A downstream_gene_variant MELA-AU 22 37278576 37278576 single base substitution C T downstream_gene_variant MELA-AU 22 37278704 37278704 single base substitution G A downstream_gene_variant MELA-AU 22 37278738 37278738 single base substitution G A downstream_gene_variant MELA-AU 22 37278746 37278746 single base substitution C T downstream_gene_variant MELA-AU 22 37278795 37278795 single base substitution C T downstream_gene_variant MELA-AU 22 37278939 37278939 single base substitution C T downstream_gene_variant MELA-AU 22 37278943 37278943 single base substitution C T downstream_gene_variant ORCA-IN 22 37267205 37267205 single base substitution G A intron_variant ORCA-IN 22 37267205 37267205 single base substitution G A upstream_gene_variant ORCA-IN 22 37270315 37270315 single base substitution C G intron_variant OV-AU 22 37257014 37257014 single base substitution T C upstream_gene_variant OV-AU 22 37258047 37258047 single base substitution G A intron_variant OV-AU 22 37262992 37262992 single base substitution G T intron_variant OV-AU 22 37263513 37263513 single base substitution G A intron_variant OV-AU 22 37263513 37263513 single base substitution G A upstream_gene_variant OV-AU 22 37263806 37263806 single base substitution G A intron_variant OV-AU 22 37263806 37263806 single base substitution G A upstream_gene_variant OV-AU 22 37264870 37264870 single base substitution C G intron_variant OV-AU 22 37264870 37264870 single base substitution C G upstream_gene_variant OV-AU 22 37273472 37273472 single base substitution C G downstream_gene_variant OV-AU 22 37273472 37273472 single base substitution C G intron_variant OV-AU 22 37273728 37273728 single base substitution G T 3_prime_UTR_variant OV-AU 22 37273728 37273728 single base substitution G T downstream_gene_variant OV-AU 22 37273728 37273728 single base substitution G T missense_variant V295F 883G>T OV-AU 22 37273889 37273889 single base substitution G T 3_prime_UTR_variant OV-AU 22 37273889 37273889 single base substitution G T downstream_gene_variant OV-AU 22 37278448 37278448 single base substitution G T downstream_gene_variant PACA-AU 22 37252510 37252510 single base substitution G T upstream_gene_variant PACA-AU 22 37256826 37256826 single base substitution G A upstream_gene_variant PACA-AU 22 37263469 37263469 single base substitution G A 5_prime_UTR_variant PACA-AU 22 37263469 37263469 single base substitution G A missense_variant E103K 307G>A PACA-AU 22 37263469 37263469 single base substitution G A upstream_gene_variant PACA-AU 22 37263876 37263876 single base substitution T A intron_variant PACA-AU 22 37263876 37263876 single base substitution T A upstream_gene_variant PACA-AU 22 37264096 37264096 single base substitution G A intron_variant PACA-AU 22 37264096 37264096 single base substitution G A upstream_gene_variant PACA-AU 22 37269920 37269920 single base substitution T C intron_variant PACA-AU 22 37270550 37270550 single base substitution G A intron_variant PACA-AU 22 37270584 37270584 single base substitution C A intron_variant PACA-AU 22 37272089 37272089 single base substitution A T downstream_gene_variant PACA-AU 22 37272089 37272089 single base substitution A T missense_variant E259D 777A>T PACA-AU 22 37272089 37272089 single base substitution A T missense_variant K204M 611A>T PACA-AU 22 37272089 37272089 single base substitution A T missense_variant K341M 1022A>T PACA-AU 22 37277009 37277009 single base substitution T G downstream_gene_variant PACA-AU 22 37277242 37277242 single base substitution G A downstream_gene_variant PACA-CA 22 37254374 37254374 single base substitution T C upstream_gene_variant PACA-CA 22 37261016 37261016 single base substitution G A 5_prime_UTR_variant PACA-CA 22 37261016 37261016 single base substitution G A missense_variant R58H 173G>A PACA-CA 22 37261644 37261644 single base substitution C A intron_variant PACA-CA 22 37262044 37262044 single base substitution T A intron_variant PACA-CA 22 37262238 37262238 single base substitution T C intron_variant PACA-CA 22 37264211 37264211 single base substitution G T intron_variant PACA-CA 22 37264211 37264211 single base substitution G T upstream_gene_variant PACA-CA 22 37265696 37265696 single base substitution G A intron_variant PACA-CA 22 37265696 37265696 single base substitution G A upstream_gene_variant PACA-CA 22 37265750 37265750 single base substitution G A intron_variant PACA-CA 22 37265750 37265750 single base substitution G A upstream_gene_variant PACA-CA 22 37266710 37266710 single base substitution G T intron_variant PACA-CA 22 37266710 37266710 single base substitution G T upstream_gene_variant PACA-CA 22 37268302 37268302 single base substitution T A intron_variant PACA-CA 22 37269022 37269022 single base substitution A G intron_variant PACA-CA 22 37270456 37270456 single base substitution C G intron_variant PACA-CA 22 37272078 37272078 single base substitution G A downstream_gene_variant PACA-CA 22 37272078 37272078 single base substitution G A missense_variant A256T 766G>A PACA-CA 22 37272078 37272078 single base substitution G A synonymous_variant S200S 600G>A PACA-CA 22 37272078 37272078 single base substitution G A synonymous_variant S337S 1011G>A PACA-CA 22 37273798 37273798 single base substitution G A 3_prime_UTR_variant PACA-CA 22 37273798 37273798 single base substitution G A downstream_gene_variant PACA-CA 22 37273798 37273798 single base substitution G A missense_variant R318H 953G>A PACA-CA 22 37274815 37274815 single base substitution C G downstream_gene_variant PACA-CA 22 37275613 37275613 single base substitution A T downstream_gene_variant PACA-CA 22 37277014 37277015 deletion of <=200bp TG - downstream_gene_variant PACA-CA 22 37277151 37277151 single base substitution G A downstream_gene_variant PACA-CA 22 37278092 37278092 single base substitution G A downstream_gene_variant PAEN-AU 22 37266029 37266029 single base substitution T G intron_variant PAEN-AU 22 37266029 37266029 single base substitution T G upstream_gene_variant PBCA-DE 22 37266101 37266101 single base substitution T A intron_variant PBCA-DE 22 37266101 37266101 single base substitution T A upstream_gene_variant PBCA-DE 22 37268712 37268712 single base substitution G A intron_variant PBCA-DE 22 37271013 37271013 single base substitution G C intron_variant PBCA-DE 22 37273487 37273487 single base substitution C A downstream_gene_variant PBCA-DE 22 37273487 37273487 single base substitution C A intron_variant PBCA-DE 22 37274394 37274394 single base substitution G C downstream_gene_variant PBCA-DE 22 37276428 37276428 single base substitution T A downstream_gene_variant PRAD-CA 22 37254507 37254507 single base substitution C T upstream_gene_variant PRAD-CA 22 37262008 37262008 single base substitution C G intron_variant PRAD-CA 22 37275883 37275883 single base substitution G T downstream_gene_variant PRAD-UK 22 37252251 37252251 single base substitution C T upstream_gene_variant PRAD-UK 22 37252823 37252823 insertion of <=200bp - T upstream_gene_variant PRAD-UK 22 37258796 37258796 single base substitution C T intron_variant PRAD-UK 22 37265537 37265537 single base substitution C A intron_variant PRAD-UK 22 37265537 37265537 single base substitution C A upstream_gene_variant PRAD-UK 22 37268436 37268436 single base substitution T C missense_variant L199P 596T>C PRAD-UK 22 37268436 37268436 single base substitution T C missense_variant L62P 185T>C PRAD-UK 22 37268436 37268436 single base substitution T C missense_variant L96P 287T>C PRAD-UK 22 37269924 37269924 single base substitution A T intron_variant PRAD-US 22 37263465 37263465 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 22 37263465 37263465 single base substitution C T synonymous_variant I101I 303C>T PRAD-US 22 37263465 37263465 single base substitution C T upstream_gene_variant PRAD-US 22 37263492 37263492 single base substitution C T synonymous_variant N110N 330C>T PRAD-US 22 37263492 37263492 single base substitution C T synonymous_variant N7N 21C>T PRAD-US 22 37263492 37263492 single base substitution C T upstream_gene_variant PRAD-US 22 37271705 37271705 single base substitution G A missense_variant R110Q 329G>A PRAD-US 22 37271705 37271705 single base substitution G A missense_variant R213Q 638G>A PRAD-US 22 37271705 37271705 single base substitution G A missense_variant R76Q 227G>A RECA-EU 22 37254261 37254261 single base substitution C A upstream_gene_variant RECA-EU 22 37261022 37261022 single base substitution G T 5_prime_UTR_variant RECA-EU 22 37261022 37261022 single base substitution G T missense_variant R60L 179G>T RECA-EU 22 37265082 37265082 single base substitution T G intron_variant RECA-EU 22 37265082 37265082 single base substitution T G upstream_gene_variant RECA-EU 22 37278821 37278821 single base substitution C G downstream_gene_variant SKCA-BR 22 37252043 37252043 single base substitution G A upstream_gene_variant SKCA-BR 22 37253203 37253203 single base substitution G A upstream_gene_variant SKCA-BR 22 37253847 37253847 single base substitution T A upstream_gene_variant SKCA-BR 22 37254610 37254610 single base substitution C G upstream_gene_variant SKCA-BR 22 37254764 37254764 single base substitution T A upstream_gene_variant SKCA-BR 22 37254822 37254822 single base substitution G A upstream_gene_variant SKCA-BR 22 37255606 37255606 single base substitution G A upstream_gene_variant SKCA-BR 22 37256497 37256497 single base substitution T G upstream_gene_variant SKCA-BR 22 37256919 37256919 single base substitution G A upstream_gene_variant SKCA-BR 22 37258875 37258875 single base substitution C T intron_variant SKCA-BR 22 37259605 37259605 single base substitution T C intron_variant SKCA-BR 22 37260080 37260080 single base substitution C T intron_variant SKCA-BR 22 37260080 37260080 single base substitution C T splice_region_variant SKCA-BR 22 37260160 37260160 single base substitution A C intron_variant SKCA-BR 22 37260160 37260160 single base substitution A C missense_variant T36P 106A>C SKCA-BR 22 37260265 37260265 single base substitution C T intron_variant SKCA-BR 22 37260694 37260694 single base substitution T A intron_variant SKCA-BR 22 37260893 37260893 single base substitution C T intron_variant SKCA-BR 22 37261806 37261806 single base substitution C T intron_variant SKCA-BR 22 37262522 37262522 single base substitution C T intron_variant SKCA-BR 22 37264085 37264085 single base substitution G A intron_variant SKCA-BR 22 37264085 37264085 single base substitution G A upstream_gene_variant SKCA-BR 22 37265803 37265803 single base substitution G A intron_variant SKCA-BR 22 37265803 37265803 single base substitution G A upstream_gene_variant SKCA-BR 22 37268656 37268656 single base substitution A G intron_variant SKCA-BR 22 37268665 37268713 deletion of <=200bp TTGGAGGTGAGGGTGGAGGTAAGAGTGGAGATGAGATTGGAGGTGAGGA - intron_variant SKCA-BR 22 37268677 37268677 single base substitution G T intron_variant SKCA-BR 22 37268779 37268779 single base substitution A G intron_variant SKCA-BR 22 37268824 37268824 single base substitution A G intron_variant SKCA-BR 22 37269022 37269022 single base substitution A G intron_variant SKCA-BR 22 37269033 37269033 single base substitution C T intron_variant SKCA-BR 22 37270147 37270147 single base substitution G A intron_variant SKCA-BR 22 37270235 37270235 single base substitution C T intron_variant SKCA-BR 22 37270828 37270828 single base substitution G A intron_variant SKCA-BR 22 37271207 37271207 single base substitution G A intron_variant SKCA-BR 22 37271342 37271342 single base substitution G A intron_variant SKCA-BR 22 37271839 37271839 single base substitution G A intron_variant SKCA-BR 22 37271839 37271839 single base substitution G A missense_variant E121K 361G>A SKCA-BR 22 37271839 37271839 single base substitution G A missense_variant E155K 463G>A SKCA-BR 22 37271839 37271839 single base substitution G A missense_variant E258K 772G>A SKCA-BR 22 37273983 37273983 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 37273983 37273983 single base substitution G A downstream_gene_variant SKCA-BR 22 37274733 37274733 single base substitution C T downstream_gene_variant SKCA-BR 22 37274889 37274889 single base substitution G A downstream_gene_variant SKCA-BR 22 37275760 37275760 single base substitution T G downstream_gene_variant SKCA-BR 22 37275865 37275865 single base substitution G A downstream_gene_variant SKCA-BR 22 37275904 37275904 single base substitution C T downstream_gene_variant SKCA-BR 22 37276101 37276101 single base substitution G A downstream_gene_variant SKCA-BR 22 37276701 37276701 single base substitution C T downstream_gene_variant SKCA-BR 22 37277536 37277536 single base substitution G A downstream_gene_variant SKCA-BR 22 37278147 37278147 single base substitution C T downstream_gene_variant SKCA-BR 22 37278380 37278380 single base substitution G A downstream_gene_variant SKCA-BR 22 37278552 37278552 single base substitution C T downstream_gene_variant SKCM-US 22 37268389 37268389 single base substitution A G synonymous_variant G183G 549A>G SKCM-US 22 37268389 37268389 single base substitution A G synonymous_variant G46G 138A>G SKCM-US 22 37268389 37268389 single base substitution A G synonymous_variant G80G 240A>G SKCM-US 22 37268428 37268428 single base substitution G A synonymous_variant V196V 588G>A SKCM-US 22 37268428 37268428 single base substitution G A synonymous_variant V59V 177G>A SKCM-US 22 37268428 37268428 single base substitution G A synonymous_variant V93V 279G>A SKCM-US 22 37271732 37271732 single base substitution C T missense_variant S119F 356C>T SKCM-US 22 37271732 37271732 single base substitution C T missense_variant S222F 665C>T SKCM-US 22 37271732 37271732 single base substitution C T missense_variant S85F 254C>T SKCM-US 22 37271770 37271770 single base substitution G A missense_variant D132N 394G>A SKCM-US 22 37271770 37271770 single base substitution G A missense_variant D235N 703G>A SKCM-US 22 37271770 37271770 single base substitution G A missense_variant D98N 292G>A SKCM-US 22 37271803 37271803 single base substitution G A missense_variant E109K 325G>A SKCM-US 22 37271803 37271803 single base substitution G A missense_variant E143K 427G>A SKCM-US 22 37271803 37271803 single base substitution G A missense_variant E246K 736G>A SKCM-US 22 37272105 37272105 single base substitution C T downstream_gene_variant SKCM-US 22 37272105 37272105 single base substitution C T missense_variant P265S 793C>T SKCM-US 22 37272105 37272105 single base substitution C T synonymous_variant L209L 627C>T SKCM-US 22 37272105 37272105 single base substitution C T synonymous_variant L346L 1038C>T SKCM-US 22 37273673 37273673 single base substitution G A 3_prime_UTR_variant SKCM-US 22 37273673 37273673 single base substitution G A downstream_gene_variant SKCM-US 22 37273673 37273673 single base substitution G A synonymous_variant R276R 828G>A SKCM-US 22 37273719 37273719 single base substitution G A 3_prime_UTR_variant SKCM-US 22 37273719 37273719 single base substitution G A downstream_gene_variant SKCM-US 22 37273719 37273719 single base substitution G A missense_variant G292R 874G>A SKCM-US 22 37273838 37273838 single base substitution C T 3_prime_UTR_variant SKCM-US 22 37273838 37273838 single base substitution C T downstream_gene_variant SKCM-US 22 37273838 37273838 single base substitution C T synonymous_variant N331N 993C>T STAD-US 22 37260993 37260993 single base substitution A G 5_prime_UTR_variant STAD-US 22 37260993 37260993 single base substitution A G synonymous_variant G50G 150A>G STAD-US 22 37266489 37266489 single base substitution G T missense_variant M125I 375G>T STAD-US 22 37266489 37266489 single base substitution G T missense_variant M22I 66G>T STAD-US 22 37266489 37266489 single base substitution G T upstream_gene_variant UCEC-US 22 37260147 37260147 single base substitution G C intron_variant UCEC-US 22 37260147 37260147 single base substitution G C missense_variant E31D 93G>C UCEC-US 22 37261016 37261016 single base substitution G A 5_prime_UTR_variant UCEC-US 22 37261016 37261016 single base substitution G A missense_variant R58H 173G>A UCEC-US 22 37263465 37263465 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 22 37263465 37263465 single base substitution C T synonymous_variant I101I 303C>T UCEC-US 22 37263465 37263465 single base substitution C T upstream_gene_variant UCEC-US 22 37271769 37271769 single base substitution C T synonymous_variant D131D 393C>T UCEC-US 22 37271769 37271769 single base substitution C T synonymous_variant D234D 702C>T UCEC-US 22 37271769 37271769 single base substitution C T synonymous_variant D97D 291C>T UCEC-US 22 37271789 37271789 single base substitution G A missense_variant R104H 311G>A UCEC-US 22 37271789 37271789 single base substitution G A missense_variant R138H 413G>A UCEC-US 22 37271789 37271789 single base substitution G A missense_variant R241H 722G>A UCEC-US 22 37272100 37272100 single base substitution G A downstream_gene_variant UCEC-US 22 37272100 37272100 single base substitution G A missense_variant A208T 622G>A UCEC-US 22 37272100 37272100 single base substitution G A missense_variant A345T 1033G>A UCEC-US 22 37272100 37272100 single base substitution G A missense_variant S263N 788G>A UCEC-US 22 37273767 37273767 single base substitution C T 3_prime_UTR_variant UCEC-US 22 37273767 37273767 single base substitution C T downstream_gene_variant UCEC-US 22 37273767 37273767 single base substitution C T missense_variant R308W 922C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand P03-2345 COSM245956 c.552C>A p.N184K Substitution - Missense 22:36872350-36872350 + TCGA-AP-A0LM-01 COSM1033893 c.722G>A p.R241H Substitution - Missense 22:36875747-36875747 + BK0020 COSM4186259 c.1006delA p.N336fs*>4 Deletion - Frameshift 22:36877809-36877809 + TCGA-AN-A046-01 COSM137246 c.314G>A p.R105Q Substitution - Missense 22:36867434-36867434 + TCGA-FS-A1ZC-06 COSM3554008 c.665C>T p.S222F Substitution - Missense 22:36875690-36875690 + TCGA-FW-A3TV-06 COSM3554010 c.703G>A p.D235N Substitution - Missense 22:36875728-36875728 + PD6720a COSM5781792 c.519G>T p.P173P Substitution - coding silent 22:36871700-36871700 + Pat_76_B COSM5859295 c.170G>A p.R57H Substitution - Missense 22:36864971-36864971 + WM3211 COSM3726933 c.106A>C p.T36P Substitution - Missense 22:36864118-36864118 + C0094T COSM4164934 c.179G>T p.R60L Substitution - Missense 22:36864980-36864980 + Pat_76_A COSM5859295 c.170G>A p.R57H Substitution - Missense 22:36864971-36864971 + PD13164a COSM5770327 c.306C>A p.A102A Substitution - coding silent 22:36867426-36867426 + AOCS-092-3-3 COSM4137425 c.883G>T p.V295F Substitution - Missense 22:36877686-36877686 + TCGA-HC-7749-01 COSM1471508 c.638G>A p.R213Q Substitution - Missense 22:36875663-36875663 + sysucc-311T COSM5465474 c.359C>T p.P120L Substitution - Missense 22:36870431-36870431 + 2492721 COSM5723249 c.567G>A p.L189L Substitution - coding silent 22:36872365-36872365 + CRC-19T COSM5481725 c.854T>C p.L285P Substitution - Missense 22:36877657-36877657 + BK0090 COSM4189241 c.533_534insA p.F179fs*2 Insertion - Frameshift 22:36872331-36872332 + TCGA-AA-3821-01 COSM294602 c.280T>G p.Y94D Substitution - Missense 22:36867400-36867400 + T70 COSM4705867 c.458G>A p.R153H Substitution - Missense 22:36870530-36870530 + TCGA-DK-A1AC-01 COSM1308137 c.609C>G p.I203M Substitution - Missense 22:36872407-36872407 + Mel-2 COSM3726933 c.106A>C p.T36P Substitution - Missense 22:36864118-36864118 + PTC-28C COSM4156205 c.626A>G p.E209G Substitution - Missense 22:36872424-36872424 + YUMOBER COSM5393546 c.690C>T p.F230F Substitution - coding silent 22:36875715-36875715 + AOCS-092-1-6 COSM4137425 c.883G>T p.V295F Substitution - Missense 22:36877686-36877686 + TCGA-EE-A29D-06 COSM3554004 c.549A>G p.G183G Substitution - coding silent 22:36872347-36872347 + BD121T COSM5515792 c.313C>T p.R105W Substitution - Missense 22:36867433-36867433 + STC291 COSM5057803 c.980C>T p.T327M Substitution - Missense 22:36877783-36877783 + Pat_63_A COSM5859297 c.331G>A p.A111T Substitution - Missense 22:36867451-36867451 + CSCC-57-T COSM4513517 c.941C>T p.P314L Substitution - Missense 22:36877744-36877744 + TCGA-36-1578-01 COSM78149 c.304G>A p.A102T Substitution - Missense 22:36867424-36867424 + 1_PRE-TREATMENT COSM1719627 c.548G>A p.G183E Substitution - Missense 22:36872346-36872346 + PT44 COSM5927097 c.201C>G p.S67R Substitution - Missense 22:36865002-36865002 + TCGA-IR-A3LK-01 COSM4818250 c.841G>C p.E281Q Substitution - Missense 22:36877644-36877644 + CSCC-49-T COSM4519328 c.759-1G>T p.? Unknown 22:36876028-36876028 + TCGA-AM-5821-01 COSM5135043 c.163A>G p.I55V Substitution - Missense 22:36864964-36864964 + TCGA-BS-A0UV-01 COSM1033885 c.173G>A p.R58H Substitution - Missense 22:36864974-36864974 + DLD1 COSM4624670 c.774G>T p.E258D Substitution - Missense 22:36876044-36876044 + HT115 COSM3149934 c.886C>T p.R296W Substitution - Missense 22:36877689-36877689 + I2L-P19Ta-Tumor-Organoid COSM5366448 c.759-8C>T p.? Unknown 22:36876021-36876021 + TCGA-EE-A2MR-06 COSM3554006 c.588G>A p.V196V Substitution - coding silent 22:36872386-36872386 + TCGA-HU-A4GT-01 COSM4103851 c.150A>G p.G50G Substitution - coding silent 22:36864951-36864951 + TCGA-AA-3663-01 COSM5101277 c.809T>C p.L270P Substitution - Missense 22:36876079-36876079 + TCGA-EE-A2GT-06 COSM3554012 c.736G>A p.E246K Substitution - Missense 22:36875761-36875761 + TCGA-DD-A4NE-01 COSM4940884 c.641G>C p.G214A Substitution - Missense 22:36875666-36875666 + PCSI_0072_Pa_P_526 COSM3785535 c.953G>A p.R318H Substitution - Missense 22:36877756-36877756 + CSCC-62-T COSM4562245 c.918G>A p.M306I Substitution - Missense 22:36877721-36877721 + TCGA-E2-A15I-01 COSM3726933 c.106A>C p.T36P Substitution - Missense 22:36864118-36864118 + cSCCP6 COSM137246 c.314G>A p.R105Q Substitution - Missense 22:36867434-36867434 + TCGA-D1-A17R-01 COSM1033896 c.922C>T p.R308W Substitution - Missense 22:36877725-36877725 + TCGA-B5-A0JV-01 COSM1033891 c.702C>T p.D234D Substitution - coding silent 22:36875727-36875727 + TCGA-FJ-A3ZE-01 COSM3800184 c.450C>G p.L150L Substitution - coding silent 22:36870522-36870522 + ccRCC-93 COSM1665956 c.118-1G>T p.? Unknown 22:36864918-36864918 + Pat_04_A COSM5073911 c.931C>T p.R311C Substitution - Missense 22:36877734-36877734 + KM12 COSM3149915 c.409C>T p.P137S Substitution - Missense 22:36870481-36870481 + T1743 COSM4705869 c.624G>A p.L208L Substitution - coding silent 22:36872422-36872422 + 8057559 COSM3390207 c.777A>T p.E259D Substitution - Missense 22:36876047-36876047 + I2L-P19Ta-Tumor-Biopsy COSM5366448 c.759-8C>T p.? Unknown 22:36876021-36876021 + TCGA-AG-A023-01 COSM5073911 c.931C>T p.R311C Substitution - Missense 22:36877734-36877734 + Mel18 COSM3726933 c.106A>C p.T36P Substitution - Missense 22:36864118-36864118 + TCGA-DA-A1I0-06 COSM3149932 c.828G>A p.R276R Substitution - coding silent 22:36877631-36877631 + TCGA-BS-A0UV-01 COSM1033887 c.303C>T p.I101I Substitution - coding silent 22:36867423-36867423 + TCGA-Q1-A73O-01 COSM4836065 c.148G>C p.G50R Substitution - Missense 22:36864949-36864949 + YUTRAIN COSM5393550 c.890T>A p.L297Q Substitution - Missense 22:36877693-36877693 + BD149T COSM1294072 c.402C>A p.Y134* Substitution - Nonsense 22:36870474-36870474 + 8057543 COSM3390205 c.307G>A p.E103K Substitution - Missense 22:36867427-36867427 + PCSI_0330_Pa_P_526 COSM1033885 c.173G>A p.R58H Substitution - Missense 22:36864974-36864974 + LUAD-S01315 COSM345198 c.389G>A p.R130Q Substitution - Missense 22:36870461-36870461 + TCGA-AZ-6601-01 COSM1416093 c.492C>T p.G164G Substitution - coding silent 22:36871673-36871673 + 8043971 COSM3390205 c.307G>A p.E103K Substitution - Missense 22:36867427-36867427 + CAL33 COSM3726933 c.106A>C p.T36P Substitution - Missense 22:36864118-36864118 + 2492723 COSM5723249 c.567G>A p.L189L Substitution - coding silent 22:36872365-36872365 + TCGA-B5-A11E-01 COSM1033883 c.93G>C p.E31D Substitution - Missense 22:36864105-36864105 + 16461 COSM5614880 c.670G>A p.V224M Substitution - Missense 22:36875695-36875695 + 587256 COSM1216811 c.701A>G p.D234G Substitution - Missense 22:36875726-36875726 + TCGA-AR-A24U-01 COSM1484211 c.359C>G p.P120R Substitution - Missense 22:36870431-36870431 + 2492722 COSM5723249 c.567G>A p.L189L Substitution - coding silent 22:36872365-36872365 + TCGA-DS-A1OC-01 COSM1294072 c.402C>A p.Y134* Substitution - Nonsense 22:36870474-36870474 + TCGA-AG-3892-01 COSM257500 c.1010C>T p.T337M Substitution - Missense 22:36877813-36877813 + SNUH_G22_S1 COSM4002171 c.104T>C p.F35S Substitution - Missense 22:36864116-36864116 + TCGA-QU-A6IN-01 COSM1033887 c.303C>T p.I101I Substitution - coding silent 22:36867423-36867423 + TCGA-D5-6928-01 COSM257500 c.1010C>T p.T337M Substitution - Missense 22:36877813-36877813 + ESCC_31 COSM5627883 c.601_602insGTCG p.I203fs*31 Insertion - Frameshift 22:36872399-36872400 + TCGA-AA-3864-01 COSM5115075 c.271+8G>A p.? Unknown 22:36865080-36865080 + AOCS-163-1-4 COSM4137424 c.342+9G>A p.? Unknown 22:36867471-36867471 + CHEWS010 COSM4582364 c.1015C>T p.P339S Substitution - Missense 22:36877818-36877818 + YUSWI COSM1714345 c.91G>A p.E31K Substitution - Missense 22:36864103-36864103 + RMS66_ COSM4988091 c.911C>A p.A304E Substitution - Missense 22:36877714-36877714 + CoCM-1 COSM4621136 c.997A>G p.R333G Substitution - Missense 22:36877800-36877800 + PCSI_0066_Pa_X COSM3379334 c.766G>A p.A256T Substitution - Missense 22:36876036-36876036 + TCGA-A6-5665-01 COSM1416089 c.87C>T p.I29I Substitution - coding silent 22:36864099-36864099 + YUMAR COSM5393549 c.765C>T p.I255I Substitution - coding silent 22:36876035-36876035 + CRC-25T COSM5453171 c.524C>A p.A175E Substitution - Missense 22:36871705-36871705 + TCGA-FS-A4F5-06 COSM3554016 c.993C>T p.N331N Substitution - coding silent 22:36877796-36877796 + UM-SCC-2 COSM3726933 c.106A>C p.T36P Substitution - Missense 22:36864118-36864118 + 1_RESISTANT COSM1719627 c.548G>A p.G183E Substitution - Missense 22:36872346-36872346 + 0064_CRUK_PC_0064_T1_DNA COSM4421080 c.596T>C p.L199P Substitution - Missense 22:36872394-36872394 + Au1 COSM5597159 c.573C>T p.F191F Substitution - coding silent 22:36872371-36872371 + TCGA-GN-A266-06 COSM3554014 c.793C>T p.P265S Substitution - Missense 22:36876063-36876063 + TCGA-AD-6889-01 COSM5129676 c.868G>A p.A290T Substitution - Missense 22:36877671-36877671 + YUOMEGA COSM5393544 c.186C>T p.F62F Substitution - coding silent 22:36864987-36864987 + LUAD-RT-S01700 COSM378755 c.669C>G p.F223L Substitution - Missense 22:36875694-36875694 + TCGA-GN-A266-06 COSM3554015 c.874G>A p.G292R Substitution - Missense 22:36877677-36877677 + P122 COSM137246 c.314G>A p.R105Q Substitution - Missense 22:36867434-36867434 + 93VU147T COSM3726933 c.106A>C p.T36P Substitution - Missense 22:36864118-36864118 + TCGA-AA-A010-01 COSM283137 c.129C>T p.I43I Substitution - coding silent 22:36864930-36864930 + TCGA-85-6561-01 COSM726430 c.68C>A p.S23* Substitution - Nonsense 22:36864080-36864080 + TCGA-B5-A0JN-01 COSM1033889 c.491G>A p.G164D Substitution - Missense 22:36871672-36871672 + TCGA-G9-6343-01 COSM3149901 c.330C>T p.N110N Substitution - coding silent 22:36867450-36867450 + 2492720 COSM5723249 c.567G>A p.L189L Substitution - coding silent 22:36872365-36872365 + C086 COSM5535255 c.517C>T p.P173S Substitution - Missense 22:36871698-36871698 + ATL071 COSM5707645 c.68C>T p.S23L Substitution - Missense 22:36864080-36864080 + TCGA-AD-5900-01 COSM1416094 c.873delG p.D293fs*11 Deletion - Frameshift 22:36877676-36877676 + 587278 COSM137246 c.314G>A p.R105Q Substitution - Missense 22:36867434-36867434 + TCGA-B5-A0K2-01 COSM1033895 c.788G>A p.S263N Substitution - Missense 22:36876058-36876058 + TCGA-HU-A4GX-01 COSM4103853 c.375G>T p.M125I Substitution - Missense 22:36870447-36870447 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.474781 22q13.1 601488

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGAGC - Frameshift p.S79Cfs*47 c.235_239delAGCAG 22 37261076 BLCA A T 3-UTRSNV . c.1044+16A>T 22 37272127 LUAD C A Missense p.P267T c.799C>A 22 37271866 OV C A Nonsense p.S23* c.68C>A 22 37260122 LUSC CC TT Synonymous p.(=) c.795_796delinsTT 22 37271862 CM C G Missense p.P120R c.359C>G 22 37266473 BRCA C G Missense p.P120R c.359C>G 22 37266473 HNSC C T 3-UTRSNV . c.1044+1603C>T 22 37273714 LUAD C T 3-UTRSNV . c.1044+1656C>T 22 37273767 UCEC C T 3-UTRSNV . c.1044+1675C>T 22 37273786 CM C T Missense p.S140L c.419C>T 22 37266533 MM C T Missense p.S222F c.665C>T 22 37271732 CM C T Synonymous p.D234D c.702C>T 22 37271769 UCEC C T Synonymous p.F62F c.186C>T 22 37261029 CM C T Synonymous p.I101I c.303C>T 22 37263465 PRAD C T Synonymous p.N110N c.330C>T 22 37263492 PRAD C T Synonymous p.Y59Y c.177C>T 22 37261020 CM G A 3-UTRSNV . c.1044+1562G>A 22 37273673 CM G A 3-UTRSNV . c.1044+1635G>A 22 37273746 CM G A IntronicSNV . c.627+104G>A 22 37268571 CM G A Missense p.A102T c.304G>A 22 37263466 OV G A Missense p.A345T c.1033G>A 22 37272100 UCEC G A Missense p.E246K c.736G>A 22 37271803 CM G A Missense p.R213Q c.638G>A 22 37271705 PRAD G A Missense p.V224M c.670G>A 22 37271737 NSCLC G A Synonymous p.E70E c.210G>A 22 37261053 CM G C 3-UTRSNV . c.1044+1706G>C 22 37273817 HNSC - GTGTGT IntronicInsertion . c.272-281_272-280insGTGTGT 22 37263153 CM T C 3-UTRSNV . c.1044+1692T>C 22 37273803 CM