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 22024201 22024201 + Splice_Site SNP G G A TCGA-GU-AATO-01A-11D-A391-08 TCGA-GU-AATO-10A-01D-A394-08 g.chr22:22024201G>A c.e2-1 BLCA 22 22040818 22040818 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr22:22040818C>T c.761C>T c.(760-762)gCg>gTg p.A254V BLCA 22 22049238 22049238 + IGR SNP C C T TCGA-FD-A5C1-01A-11D-A289-08 TCGA-FD-A5C1-10A-01D-A289-08 g.chr22:22049238C>T BRCA 22 22036753 22036753 + Frame_Shift_Del DEL A A - TCGA-E2-A56Z-01A-12D-A29N-09 TCGA-E2-A56Z-10A-01D-A29N-09 g.chr22:22036753delA c.415delA c.(415-417)aagfs p.K139fs BRCA 22 22041956 22041956 + Missense_Mutation SNP A A T TCGA-C8-A274-01A-11D-A16D-09 TCGA-C8-A274-10A-01D-A16D-09 g.chr22:22041956A>T c.922A>T c.(922-924)Atc>Ttc p.I308F BRCA 22 22042019 22042020 + In_Frame_Ins INS - - GCA TCGA-AO-A0JB-01A-11W-A071-09 TCGA-AO-A0JB-10A-01W-A071-09 g.chr22:22042019_22042020insGCA c.985_986insGCA c.(985-987)gtg>gGCAtg p.329_329V>GM BRCA 22 22049730 22049730 + IGR SNP T T C TCGA-AO-A126-01A-11D-A10M-09 TCGA-AO-A126-10A-01D-A10M-09 g.chr22:22049730T>C CESC 22 22035640 22035640 + Missense_Mutation SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr22:22035640C>G c.348C>G c.(346-348)atC>atG p.I116M COAD 22 22020409 22020409 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:22020409A>G c.21A>G c.(19-21)caA>caG p.Q7Q COAD 22 22035646 22035646 + Silent SNP T T C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr22:22035646T>C c.354T>C c.(352-354)gcT>gcC p.A118A COAD 22 22036780 22036780 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr22:22036780G>A c.442G>A c.(442-444)Gag>Aag p.E148K COAD 22 22039090 22039090 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:22039090A>G c.602A>G c.(601-603)aAt>aGt p.N201S COAD 22 22039199 22039199 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:22039199C>T c.711C>T c.(709-711)aaC>aaT p.N237N COAD 22 22041233 22041233 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr22:22041233C>T c.843C>T c.(841-843)taC>taT p.Y281Y COAD 22 22042383 22042383 + Missense_Mutation SNP G G T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr22:22042383G>T c.1009G>T c.(1009-1011)Ggc>Tgc p.G337C COADREAD 22 22020409 22020409 + Silent SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:22020409A>G c.21A>G c.(19-21)caA>caG p.Q7Q COADREAD 22 22035646 22035646 + Silent SNP T T C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr22:22035646T>C c.354T>C c.(352-354)gcT>gcC p.A118A COADREAD 22 22036780 22036780 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr22:22036780G>A c.442G>A c.(442-444)Gag>Aag p.E148K COADREAD 22 22039090 22039090 + Missense_Mutation SNP A A G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:22039090A>G c.602A>G c.(601-603)aAt>aGt p.N201S COADREAD 22 22039199 22039199 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr22:22039199C>T c.711C>T c.(709-711)aaC>aaT p.N237N COADREAD 22 22041233 22041233 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr22:22041233C>T c.843C>T c.(841-843)taC>taT p.Y281Y COADREAD 22 22042383 22042383 + Missense_Mutation SNP G G T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr22:22042383G>T c.1009G>T c.(1009-1011)Ggc>Tgc p.G337C ESCA 22 22043027 22043027 + Missense_Mutation SNP A A T TCGA-LN-A4A4-01A-11D-A27G-09 TCGA-LN-A4A4-10A-01D-A27G-09 g.chr22:22043027A>T c.1028A>T c.(1027-1029)gAg>gTg p.E343V GBM 22 22042378 22042378 + Missense_Mutation SNP C C A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr22:22042378C>A c.1004C>A c.(1003-1005)cCc>cAc p.P335H GBMLGG 22 22024879 22024879 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 g.chr22:22024879G>A c.107G>A c.(106-108)cGt>cAt p.R36H GBMLGG 22 22039067 22039067 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:22039067G>A c.579G>A c.(577-579)ccG>ccA p.P193P GBMLGG 22 22042378 22042378 + Missense_Mutation SNP C C A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr22:22042378C>A c.1004C>A c.(1003-1005)cCc>cAc p.P335H GBMLGG 22 22048118 22048118 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr22:22048118C>T c.1153C>T c.(1153-1155)Cgc>Tgc p.R385C HNSC 22 22035601 22035601 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 g.chr22:22035601C>T c.309C>T c.(307-309)tgC>tgT p.C103C HNSC 22 22035640 22035640 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 g.chr22:22035640C>T c.348C>T c.(346-348)atC>atT p.I116I HNSC 22 22049338 22049338 + IGR SNP A A T TCGA-CR-6480-01A-11D-1870-08 TCGA-CR-6480-10A-01D-1870-08 g.chr22:22049338A>T KIPAN 22 22024222 22024222 + Missense_Mutation SNP A A T TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr22:22024222A>T c.53A>T c.(52-54)tAc>tTc p.Y18F KIPAN 22 22024222 22024222 + Missense_Mutation SNP A A T TCGA-P4-AAVM-01A-11D-A42J-10 TCGA-P4-AAVM-11A-11D-A42M-10 g.chr22:22024222A>T c.53A>T c.(52-54)tAc>tTc p.Y18F KIPAN 22 22024876 22024876 + Missense_Mutation SNP G G A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr22:22024876G>A c.104G>A c.(103-105)cGt>cAt p.R35H KIRC 22 22024876 22024876 + Missense_Mutation SNP G G A TCGA-CZ-5468-01A-01D-1501-10 TCGA-CZ-5468-11A-01D-1501-10 g.chr22:22024876G>A c.104G>A c.(103-105)cGt>cAt p.R35H KIRP 22 22024222 22024222 + Missense_Mutation SNP A A T TCGA-5P-A9KE-01A-11D-A42J-10 TCGA-5P-A9KE-10A-01D-A42M-10 g.chr22:22024222A>T c.53A>T c.(52-54)tAc>tTc p.Y18F KIRP 22 22024222 22024222 + Missense_Mutation SNP A A T TCGA-P4-AAVM-01A-11D-A42J-10 TCGA-P4-AAVM-11A-11D-A42M-10 g.chr22:22024222A>T c.53A>T c.(52-54)tAc>tTc p.Y18F LGG 22 22024879 22024879 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 g.chr22:22024879G>A c.107G>A c.(106-108)cGt>cAt p.R36H LGG 22 22039067 22039067 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:22039067G>A c.579G>A c.(577-579)ccG>ccA p.P193P LGG 22 22048118 22048118 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr22:22048118C>T c.1153C>T c.(1153-1155)Cgc>Tgc p.R385C LIHC 22 22025284 22025309 + Splice_Site DEL TGTCCTTTTTCAGTCTCTCTCTGCAG TGTCCTTTTTCAGTCTCTCTCTGCAG - TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr22:22025284_22025309delTGTCCTTTTTCAGTCTCTCTCTGCAG c.128_152delTGTCCTTTTTCAGTCTCTCTCTGCAG c.(127-153)atgtcctttttcagtctctctctgcag>ag p.MSFFSLSLQ43fs LIHC 22 22025285 22025298 + Splice_Site DEL GTCTCTCTCTGCAG GTCTCTCTCTGCAG - TCGA-RC-A6M6-01A-11D-A32G-10 TCGA-RC-A6M6-10A-01D-A32G-10 g.chr22:22025285_22025298delGTCTCTCTCTGCAG c.128_141delGTCTCTCTCTGCAG c.(127-141)agtctctctctgcag>a p.SLSLQ43fs LIHC 22 22043036 22043036 + Frame_Shift_Del DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr22:22043036delG c.1037delG c.(1036-1038)tggfs p.W346fs LUAD 22 22026636 22026636 + Missense_Mutation SNP T T C TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr22:22026636T>C c.209T>C c.(208-210)cTt>cCt p.L70P LUAD 22 22035675 22035675 + Missense_Mutation SNP A A G TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr22:22035675A>G c.383A>G c.(382-384)tAt>tGt p.Y128C LUAD 22 22036746 22036746 + Missense_Mutation SNP C C G TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr22:22036746C>G c.408C>G c.(406-408)atC>atG p.I136M LUAD 22 22036746 22036746 + Silent SNP C C T TCGA-86-A4P7-01A-11D-A24P-08 TCGA-86-A4P7-10A-01D-A24P-08 g.chr22:22036746C>T c.408C>T c.(406-408)atC>atT p.I136I LUAD 22 22036798 22036798 + Missense_Mutation SNP G G A TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr22:22036798G>A c.460G>A c.(460-462)Gac>Aac p.D154N LUAD 22 22039174 22039176 + In_Frame_Del DEL AGA AGA - TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr22:22039174_22039176delAGA c.686_688delAGA c.(685-690)gagaag>gag p.K232del LUAD 22 22041185 22041185 + Silent SNP C C T TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr22:22041185C>T c.795C>T c.(793-795)gcC>gcT p.A265A LUSC 22 22039088 22039088 + Silent SNP A A T TCGA-66-2788-01A-01D-0983-08 TCGA-66-2788-11A-01D-0983-08 g.chr22:22039088A>T c.600A>T c.(598-600)acA>acT p.T200T OV 22 22036752 22036752 + Silent SNP C C T TCGA-10-0927-01A-02W-0419-10 TCGA-10-0927-11A-01W-0419-10 g.chr22:22036752C>T c.414C>T c.(412-414)gcC>gcT p.A138A OV 22 22039067 22039067 + Silent SNP G G A TCGA-61-2097-01A-02W-0722-08 TCGA-61-2097-11A-01W-0723-08 g.chr22:22039067G>A c.579G>A c.(577-579)ccG>ccA p.P193P PAAD 22 22039067 22039067 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:22039067G>A c.579G>A c.(577-579)ccG>ccA p.P193P PAAD 22 22049265 22049265 + IGR SNP G G T TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 g.chr22:22049265G>T PRAD 22 22039094 22039094 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:22039094C>T c.606C>T c.(604-606)gcC>gcT p.A202A SKCM 22 22024875 22024875 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr22:22024875C>T c.103C>T c.(103-105)Cgt>Tgt p.R35C SKCM 22 22024875 22024875 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:22024875C>T c.103C>T c.(103-105)Cgt>Tgt p.R35C SKCM 22 22024875 22024875 + Missense_Mutation SNP C C T TCGA-FR-A69P-06A-21D-A30X-08 TCGA-FR-A69P-10A-01D-A30X-08 g.chr22:22024875C>T c.103C>T c.(103-105)Cgt>Tgt p.R35C SKCM 22 22035615 22035615 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr22:22035615C>T c.323C>T c.(322-324)aCc>aTc p.T108I SKCM 22 22036790 22036790 + Missense_Mutation SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr22:22036790C>T c.452C>T c.(451-453)tCc>tTc p.S151F SKCM 22 22036806 22036806 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr22:22036806C>T c.468C>T c.(466-468)atC>atT p.I156I SKCM 22 22039122 22039122 + Missense_Mutation SNP T T A TCGA-D3-A51E-06A-11D-A25O-08 TCGA-D3-A51E-10A-01D-A25O-08 g.chr22:22039122T>A c.634T>A c.(634-636)Tac>Aac p.Y212N SKCM 22 22039149 22039149 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:22039149C>T c.661C>T c.(661-663)Ctg>Ttg p.L221L SKCM 22 22040799 22040799 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 g.chr22:22040799G>A c.742G>A c.(742-744)Gct>Act p.A248T SKCM 22 22040809 22040809 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr22:22040809C>T c.752C>T c.(751-753)aCc>aTc p.T251I SKCM 22 22040810 22040810 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr22:22040810C>T c.753C>T c.(751-753)acC>acT p.T251T SKCM 22 22040815 22040815 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr22:22040815C>T c.758C>T c.(757-759)aCc>aTc p.T253I SKCM 22 22043086 22043086 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr22:22043086C>T c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C SKCM 22 22049076 22049076 + IGR SNP C C T TCGA-ER-A2NF-06A-11D-A19A-08 TCGA-ER-A2NF-10A-01D-A19A-08 g.chr22:22049076C>T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 22 22043077 22043077 single base substitution C T 3_prime_UTR_variant BLCA-CN 22 22043077 22043077 single base substitution C T downstream_gene_variant BLCA-CN 22 22043077 22043077 single base substitution C T exon_variant BLCA-CN 22 22043077 22043077 single base substitution C T missense_variant H339Y 1015C>T BLCA-CN 22 22043077 22043077 single base substitution C T missense_variant H360Y 1078C>T BOCA-FR 22 22006135 22006135 single base substitution G T upstream_gene_variant BRCA-EU 22 22001964 22001964 single base substitution C A upstream_gene_variant BRCA-EU 22 22006185 22006185 single base substitution G A upstream_gene_variant BRCA-EU 22 22006303 22006303 single base substitution C A upstream_gene_variant BRCA-EU 22 22007238 22007238 single base substitution G T intron_variant BRCA-EU 22 22008139 22008139 single base substitution C G intron_variant BRCA-EU 22 22008269 22008269 single base substitution G A intron_variant BRCA-EU 22 22009311 22009311 single base substitution C G intron_variant BRCA-EU 22 22009374 22009374 single base substitution G C intron_variant BRCA-EU 22 22010081 22010081 single base substitution G A intron_variant BRCA-EU 22 22012271 22012271 single base substitution G T intron_variant BRCA-EU 22 22014649 22014649 single base substitution G C intron_variant BRCA-EU 22 22014721 22014721 single base substitution C G intron_variant BRCA-EU 22 22017128 22017128 single base substitution A C intron_variant BRCA-EU 22 22017128 22017128 single base substitution A C upstream_gene_variant BRCA-EU 22 22017526 22017526 single base substitution C T intron_variant BRCA-EU 22 22017526 22017526 single base substitution C T upstream_gene_variant BRCA-EU 22 22019722 22019722 single base substitution G A intron_variant BRCA-EU 22 22019722 22019722 single base substitution G A upstream_gene_variant BRCA-EU 22 22020668 22020668 single base substitution G C intron_variant BRCA-EU 22 22020698 22020698 single base substitution C G intron_variant BRCA-EU 22 22021402 22021404 deletion of <=200bp CTT - intron_variant BRCA-EU 22 22022276 22022276 single base substitution G T intron_variant BRCA-EU 22 22022276 22022276 single base substitution G T upstream_gene_variant BRCA-EU 22 22023339 22023339 single base substitution C G intron_variant BRCA-EU 22 22023339 22023339 single base substitution C G upstream_gene_variant BRCA-EU 22 22024454 22024454 single base substitution A G exon_variant BRCA-EU 22 22024454 22024454 single base substitution A G intron_variant BRCA-EU 22 22024454 22024454 single base substitution A G upstream_gene_variant BRCA-EU 22 22025926 22025926 single base substitution C T downstream_gene_variant BRCA-EU 22 22025926 22025926 single base substitution C T intron_variant BRCA-EU 22 22025926 22025926 single base substitution C T upstream_gene_variant BRCA-EU 22 22025957 22025957 single base substitution G C downstream_gene_variant BRCA-EU 22 22025957 22025957 single base substitution G C intron_variant BRCA-EU 22 22025957 22025957 single base substitution G C upstream_gene_variant BRCA-EU 22 22026001 22026001 single base substitution G A downstream_gene_variant BRCA-EU 22 22026001 22026001 single base substitution G A intron_variant BRCA-EU 22 22026001 22026001 single base substitution G A upstream_gene_variant BRCA-EU 22 22027300 22027300 single base substitution G T downstream_gene_variant BRCA-EU 22 22027300 22027300 single base substitution G T intron_variant BRCA-EU 22 22028168 22028168 single base substitution C T downstream_gene_variant BRCA-EU 22 22028168 22028168 single base substitution C T intron_variant BRCA-EU 22 22029297 22029297 single base substitution C G downstream_gene_variant BRCA-EU 22 22029297 22029297 single base substitution C G intron_variant BRCA-EU 22 22032172 22032172 single base substitution G T downstream_gene_variant BRCA-EU 22 22032172 22032172 single base substitution G T intron_variant BRCA-EU 22 22032179 22032179 single base substitution G A downstream_gene_variant BRCA-EU 22 22032179 22032179 single base substitution G A intron_variant BRCA-EU 22 22033442 22033442 single base substitution C T intron_variant BRCA-EU 22 22033722 22033722 single base substitution C G intron_variant BRCA-EU 22 22034092 22034092 single base substitution C T intron_variant BRCA-EU 22 22038075 22038075 single base substitution G A downstream_gene_variant BRCA-EU 22 22038075 22038075 single base substitution G A intron_variant BRCA-EU 22 22038075 22038075 single base substitution G A upstream_gene_variant BRCA-EU 22 22038994 22038994 single base substitution G A downstream_gene_variant BRCA-EU 22 22038994 22038994 single base substitution G A intron_variant BRCA-EU 22 22038994 22038994 single base substitution G A upstream_gene_variant BRCA-EU 22 22041297 22041297 single base substitution G C downstream_gene_variant BRCA-EU 22 22041297 22041297 single base substitution G C intron_variant BRCA-EU 22 22042323 22042323 single base substitution C G downstream_gene_variant BRCA-EU 22 22042323 22042323 single base substitution C G intron_variant BRCA-EU 22 22043989 22043989 single base substitution G A downstream_gene_variant BRCA-EU 22 22043989 22043989 single base substitution G A intron_variant BRCA-EU 22 22043989 22043989 single base substitution G A upstream_gene_variant BRCA-EU 22 22044674 22044674 single base substitution A G intron_variant BRCA-EU 22 22044674 22044674 single base substitution A G upstream_gene_variant BRCA-EU 22 22044815 22044815 single base substitution C T intron_variant BRCA-EU 22 22044815 22044815 single base substitution C T upstream_gene_variant BRCA-EU 22 22045835 22045835 single base substitution G A intron_variant BRCA-EU 22 22045835 22045835 single base substitution G A upstream_gene_variant BRCA-EU 22 22045862 22045862 single base substitution A G intron_variant BRCA-EU 22 22045862 22045862 single base substitution A G upstream_gene_variant BRCA-EU 22 22045901 22045901 single base substitution A G intron_variant BRCA-EU 22 22045901 22045901 single base substitution A G upstream_gene_variant BRCA-EU 22 22048982 22048982 single base substitution C T exon_variant BRCA-EU 22 22048982 22048982 single base substitution C T intron_variant BRCA-EU 22 22050723 22050723 single base substitution A G 3_prime_UTR_variant BRCA-EU 22 22050723 22050723 single base substitution A G downstream_gene_variant BRCA-EU 22 22050723 22050723 single base substitution A G intron_variant BRCA-EU 22 22054186 22054186 single base substitution C G 3_prime_UTR_variant BRCA-EU 22 22054186 22054186 single base substitution C G downstream_gene_variant BRCA-EU 22 22054222 22054222 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 22054222 22054222 single base substitution G A downstream_gene_variant BRCA-EU 22 22054418 22054418 single base substitution C G downstream_gene_variant BRCA-EU 22 22055435 22055435 single base substitution C G downstream_gene_variant BRCA-EU 22 22055511 22055511 single base substitution G C downstream_gene_variant BRCA-EU 22 22056447 22056447 single base substitution G C downstream_gene_variant BRCA-EU 22 22057492 22057492 single base substitution G T downstream_gene_variant BRCA-EU 22 22057704 22057704 single base substitution G A downstream_gene_variant BRCA-EU 22 22057711 22057711 single base substitution G A downstream_gene_variant BRCA-FR 22 22010081 22010081 single base substitution G A intron_variant BRCA-FR 22 22019056 22019056 single base substitution G A intron_variant BRCA-FR 22 22019056 22019056 single base substitution G A upstream_gene_variant BRCA-FR 22 22019722 22019722 single base substitution G A intron_variant BRCA-FR 22 22019722 22019722 single base substitution G A upstream_gene_variant BRCA-FR 22 22020698 22020698 single base substitution C G intron_variant BRCA-FR 22 22026001 22026001 single base substitution G A downstream_gene_variant BRCA-FR 22 22026001 22026001 single base substitution G A intron_variant BRCA-FR 22 22026001 22026001 single base substitution G A upstream_gene_variant BRCA-FR 22 22027300 22027300 single base substitution G T downstream_gene_variant BRCA-FR 22 22027300 22027300 single base substitution G T intron_variant BRCA-FR 22 22036908 22036908 single base substitution C T downstream_gene_variant BRCA-FR 22 22036908 22036908 single base substitution C T intron_variant BRCA-FR 22 22036908 22036908 single base substitution C T upstream_gene_variant BRCA-FR 22 22043989 22043989 single base substitution G A downstream_gene_variant BRCA-FR 22 22043989 22043989 single base substitution G A intron_variant BRCA-FR 22 22043989 22043989 single base substitution G A upstream_gene_variant BRCA-KR 22 22024362 22024362 single base substitution A G exon_variant BRCA-KR 22 22024362 22024362 single base substitution A G intron_variant BRCA-KR 22 22024362 22024362 single base substitution A G upstream_gene_variant BRCA-US 22 22024612 22024612 single base substitution T G downstream_gene_variant BRCA-US 22 22024612 22024612 single base substitution T G exon_variant BRCA-US 22 22024612 22024612 single base substitution T G intron_variant BRCA-US 22 22024612 22024612 single base substitution T G upstream_gene_variant BRCA-US 22 22036753 22036753 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 22 22036753 22036753 deletion of <=200bp A - downstream_gene_variant BRCA-US 22 22036753 22036753 deletion of <=200bp A - exon_variant BRCA-US 22 22036753 22036753 deletion of <=200bp A - frameshift_variant K118 BRCA-US 22 22036753 22036753 deletion of <=200bp A - frameshift_variant K139 BRCA-US 22 22036753 22036753 deletion of <=200bp A - upstream_gene_variant BRCA-US 22 22041956 22041956 single base substitution A T 3_prime_UTR_variant BRCA-US 22 22041956 22041956 single base substitution A T downstream_gene_variant BRCA-US 22 22041956 22041956 single base substitution A T exon_variant BRCA-US 22 22041956 22041956 single base substitution A T missense_variant I287F 859A>T BRCA-US 22 22041956 22041956 single base substitution A T missense_variant I308F 922A>T BRCA-US 22 22042019 22042019 insertion of <=200bp - GCA downstream_gene_variant BRCA-US 22 22042019 22042019 insertion of <=200bp - GCA splice_region_variant BRCA-US 22 22049730 22049730 single base substitution T C 3_prime_UTR_variant BRCA-US 22 22049730 22049730 single base substitution T C exon_variant BRCA-US 22 22049730 22049730 single base substitution T C missense_variant C504R 1510T>C BRCA-US 22 22049730 22049730 single base substitution T C missense_variant M505T 1514T>C BRCA-US 22 22049730 22049730 single base substitution T C synonymous_variant H449H 1347T>C BTCA-JP 22 22007735 22007735 single base substitution G A exon_variant BTCA-JP 22 22039142 22039142 single base substitution C T 3_prime_UTR_variant BTCA-JP 22 22039142 22039142 single base substitution C T downstream_gene_variant BTCA-JP 22 22039142 22039142 single base substitution C T exon_variant BTCA-JP 22 22039142 22039142 single base substitution C T synonymous_variant D197D 591C>T BTCA-JP 22 22039142 22039142 single base substitution C T synonymous_variant D218D 654C>T BTCA-JP 22 22039142 22039142 single base substitution C T upstream_gene_variant BTCA-JP 22 22040727 22040727 single base substitution G A downstream_gene_variant BTCA-JP 22 22040727 22040727 single base substitution G A intron_variant BTCA-JP 22 22041218 22041220 deletion of <=200bp GAA - 3_prime_UTR_variant BTCA-JP 22 22041218 22041220 deletion of <=200bp GAA - downstream_gene_variant BTCA-JP 22 22041218 22041220 deletion of <=200bp GAA - exon_variant BTCA-JP 22 22041218 22041220 deletion of <=200bp GAA - inframe_deletion VK255V BTCA-JP 22 22041218 22041220 deletion of <=200bp GAA - inframe_deletion VK276V BTCA-JP 22 22042376 22042376 deletion of <=200bp C - 3_prime_UTR_variant BTCA-JP 22 22042376 22042376 deletion of <=200bp C - downstream_gene_variant BTCA-JP 22 22042376 22042376 deletion of <=200bp C - exon_variant BTCA-JP 22 22042376 22042376 deletion of <=200bp C - frameshift_variant D313 BTCA-JP 22 22042376 22042376 deletion of <=200bp C - frameshift_variant D334 BTCA-JP 22 22048968 22048968 single base substitution G T exon_variant BTCA-JP 22 22048968 22048968 single base substitution G T intron_variant BTCA-JP 22 22055555 22055555 single base substitution C T downstream_gene_variant BTCA-JP 22 22057723 22057723 single base substitution G A downstream_gene_variant BTCA-JP 22 22058592 22058592 single base substitution C T downstream_gene_variant CESC-US 22 22035640 22035640 single base substitution C G 3_prime_UTR_variant CESC-US 22 22035640 22035640 single base substitution C G exon_variant CESC-US 22 22035640 22035640 single base substitution C G missense_variant I116M 348C>G CESC-US 22 22035640 22035640 single base substitution C G missense_variant I147M 441C>G CESC-US 22 22035640 22035640 single base substitution C G missense_variant I95M 285C>G CESC-US 22 22035640 22035640 single base substitution C G upstream_gene_variant CESC-US 22 22055456 22055456 single base substitution C G downstream_gene_variant CLLE-ES 22 22007976 22007976 single base substitution G A intron_variant CLLE-ES 22 22024536 22024536 deletion of <=200bp G - downstream_gene_variant CLLE-ES 22 22024536 22024536 deletion of <=200bp G - exon_variant CLLE-ES 22 22024536 22024536 deletion of <=200bp G - intron_variant CLLE-ES 22 22024536 22024536 deletion of <=200bp G - upstream_gene_variant COAD-US 22 22039199 22039199 single base substitution C T 3_prime_UTR_variant COAD-US 22 22039199 22039199 single base substitution C T downstream_gene_variant COAD-US 22 22039199 22039199 single base substitution C T synonymous_variant N216N 648C>T COAD-US 22 22039199 22039199 single base substitution C T synonymous_variant N237N 711C>T COAD-US 22 22039199 22039199 single base substitution C T upstream_gene_variant COAD-US 22 22042383 22042383 single base substitution G T 3_prime_UTR_variant COAD-US 22 22042383 22042383 single base substitution G T downstream_gene_variant COAD-US 22 22042383 22042383 single base substitution G T exon_variant COAD-US 22 22042383 22042383 single base substitution G T missense_variant G316C 946G>T COAD-US 22 22042383 22042383 single base substitution G T missense_variant G337C 1009G>T COAD-US 22 22049783 22049783 single base substitution C T 3_prime_UTR_variant COAD-US 22 22049783 22049783 single base substitution C T missense_variant A467V 1400C>T COAD-US 22 22049783 22049783 single base substitution C T splice_region_variant COCA-CN 22 22007426 22007426 single base substitution C T intron_variant COCA-CN 22 22041443 22041443 single base substitution C T downstream_gene_variant COCA-CN 22 22041443 22041443 single base substitution C T intron_variant COCA-CN 22 22041869 22041869 single base substitution T G downstream_gene_variant COCA-CN 22 22041869 22041869 single base substitution T G intron_variant COCA-CN 22 22042394 22042394 single base substitution G A downstream_gene_variant COCA-CN 22 22042394 22042394 single base substitution G A splice_region_variant COCA-CN 22 22049552 22049552 single base substitution A G exon_variant COCA-CN 22 22049552 22049552 single base substitution A G intron_variant COCA-CN 22 22057752 22057752 single base substitution G A downstream_gene_variant COCA-CN 22 22058000 22058000 single base substitution C G downstream_gene_variant COCA-CN 22 22058106 22058106 single base substitution C T downstream_gene_variant EOPC-DE 22 22005873 22005873 single base substitution A T upstream_gene_variant ESAD-UK 22 22002110 22002110 single base substitution G A upstream_gene_variant ESAD-UK 22 22012349 22012349 single base substitution T C intron_variant ESAD-UK 22 22013244 22013244 single base substitution T A intron_variant ESAD-UK 22 22014856 22014856 single base substitution G T intron_variant ESAD-UK 22 22015455 22015455 single base substitution G A intron_variant ESAD-UK 22 22015455 22015455 single base substitution G A upstream_gene_variant ESAD-UK 22 22016070 22016070 single base substitution G A intron_variant ESAD-UK 22 22016070 22016070 single base substitution G A upstream_gene_variant ESAD-UK 22 22018824 22018824 single base substitution A G intron_variant ESAD-UK 22 22018824 22018824 single base substitution A G upstream_gene_variant ESAD-UK 22 22025386 22025386 single base substitution G C downstream_gene_variant ESAD-UK 22 22025386 22025386 single base substitution G C intron_variant ESAD-UK 22 22025386 22025386 single base substitution G C upstream_gene_variant ESAD-UK 22 22029130 22029130 single base substitution C T downstream_gene_variant ESAD-UK 22 22029130 22029130 single base substitution C T intron_variant ESAD-UK 22 22029527 22029527 single base substitution C T downstream_gene_variant ESAD-UK 22 22029527 22029527 single base substitution C T intron_variant ESAD-UK 22 22032280 22032280 single base substitution C T downstream_gene_variant ESAD-UK 22 22032280 22032280 single base substitution C T intron_variant ESAD-UK 22 22034188 22034188 single base substitution A G intron_variant ESAD-UK 22 22035154 22035154 deletion of <=200bp A - intron_variant ESAD-UK 22 22035154 22035154 deletion of <=200bp A - upstream_gene_variant ESAD-UK 22 22035727 22035727 single base substitution C T downstream_gene_variant ESAD-UK 22 22035727 22035727 single base substitution C T intron_variant ESAD-UK 22 22035727 22035727 single base substitution C T upstream_gene_variant ESAD-UK 22 22035950 22035950 single base substitution C T downstream_gene_variant ESAD-UK 22 22035950 22035950 single base substitution C T intron_variant ESAD-UK 22 22035950 22035950 single base substitution C T upstream_gene_variant ESAD-UK 22 22043086 22043086 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 22043086 22043086 single base substitution C T downstream_gene_variant ESAD-UK 22 22043086 22043086 single base substitution C T exon_variant ESAD-UK 22 22043086 22043086 single base substitution C T missense_variant R342C 1024C>T ESAD-UK 22 22043086 22043086 single base substitution C T missense_variant R363C 1087C>T ESAD-UK 22 22043782 22043782 single base substitution T C downstream_gene_variant ESAD-UK 22 22043782 22043782 single base substitution T C intron_variant ESAD-UK 22 22044542 22044542 single base substitution G A intron_variant ESAD-UK 22 22044542 22044542 single base substitution G A upstream_gene_variant ESAD-UK 22 22046021 22046021 single base substitution G A intron_variant ESAD-UK 22 22046021 22046021 single base substitution G A upstream_gene_variant ESAD-UK 22 22047240 22047240 single base substitution T G intron_variant ESAD-UK 22 22047240 22047240 single base substitution T G upstream_gene_variant ESAD-UK 22 22047619 22047619 single base substitution G A intron_variant ESAD-UK 22 22047619 22047619 single base substitution G A upstream_gene_variant ESAD-UK 22 22053412 22053412 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 22053412 22053412 single base substitution G A downstream_gene_variant ESAD-UK 22 22055580 22055580 single base substitution A C downstream_gene_variant ESAD-UK 22 22057038 22057038 single base substitution A G downstream_gene_variant ESAD-UK 22 22057674 22057674 single base substitution C T downstream_gene_variant ESAD-UK 22 22058299 22058299 single base substitution C G downstream_gene_variant ESCA-CN 22 22040818 22040818 single base substitution C T 3_prime_UTR_variant ESCA-CN 22 22040818 22040818 single base substitution C T downstream_gene_variant ESCA-CN 22 22040818 22040818 single base substitution C T exon_variant ESCA-CN 22 22040818 22040818 single base substitution C T missense_variant A233V 698C>T ESCA-CN 22 22040818 22040818 single base substitution C T missense_variant A254V 761C>T ESCA-CN 22 22058129 22058129 single base substitution C T downstream_gene_variant GBM-US 22 22042378 22042378 single base substitution C A 3_prime_UTR_variant GBM-US 22 22042378 22042378 single base substitution C A downstream_gene_variant GBM-US 22 22042378 22042378 single base substitution C A exon_variant GBM-US 22 22042378 22042378 single base substitution C A missense_variant P314H 941C>A GBM-US 22 22042378 22042378 single base substitution C A missense_variant P335H 1004C>A KIRC-US 22 22024876 22024876 single base substitution G A 3_prime_UTR_variant KIRC-US 22 22024876 22024876 single base substitution G A downstream_gene_variant KIRC-US 22 22024876 22024876 single base substitution G A exon_variant KIRC-US 22 22024876 22024876 single base substitution G A missense_variant R35H 104G>A KIRC-US 22 22024876 22024876 single base substitution G A missense_variant R66H 197G>A KIRC-US 22 22024876 22024876 single base substitution G A upstream_gene_variant LAML-KR 22 22010741 22010741 single base substitution A G intron_variant LAML-KR 22 22041300 22041300 single base substitution G C downstream_gene_variant LAML-KR 22 22041300 22041300 single base substitution G C intron_variant LAML-KR 22 22045315 22045315 single base substitution G A intron_variant LAML-KR 22 22045315 22045315 single base substitution G A upstream_gene_variant LAML-KR 22 22058355 22058355 single base substitution A G downstream_gene_variant LAML-KR 22 22058586 22058586 single base substitution T C downstream_gene_variant LGG-US 22 22048118 22048118 single base substitution C T 3_prime_UTR_variant LGG-US 22 22048118 22048118 single base substitution C T exon_variant LGG-US 22 22048118 22048118 single base substitution C T missense_variant R364C 1090C>T LGG-US 22 22048118 22048118 single base substitution C T missense_variant R385C 1153C>T LGG-US 22 22048118 22048118 single base substitution C T upstream_gene_variant LICA-FR 22 22008921 22008921 insertion of <=200bp - T intron_variant LICA-FR 22 22019422 22019422 single base substitution A G intron_variant LICA-FR 22 22019422 22019422 single base substitution A G upstream_gene_variant LICA-FR 22 22033128 22033128 single base substitution A C intron_variant LICA-FR 22 22033183 22033183 deletion of <=200bp T - intron_variant LICA-FR 22 22047750 22047750 single base substitution T A intron_variant LICA-FR 22 22047750 22047750 single base substitution T A upstream_gene_variant LICA-FR 22 22049754 22049754 single base substitution G T 3_prime_UTR_variant LICA-FR 22 22049754 22049754 single base substitution G T exon_variant LICA-FR 22 22049754 22049754 single base substitution G T missense_variant G513V 1538G>T LICA-FR 22 22049754 22049754 single base substitution G T missense_variant V512F 1534G>T LICA-FR 22 22049754 22049754 single base substitution G T synonymous_variant G457G 1371G>T LIHC-US 22 22049306 22049306 single base substitution G A 3_prime_UTR_variant LIHC-US 22 22049306 22049306 single base substitution G A exon_variant LIHC-US 22 22049306 22049306 single base substitution G A intron_variant LIHC-US 22 22049306 22049306 single base substitution G A synonymous_variant Q471Q 1413G>A LINC-JP 22 22012661 22012661 single base substitution T G exon_variant LINC-JP 22 22020459 22020459 single base substitution C A intron_variant LINC-JP 22 22024027 22024027 single base substitution G T intron_variant LINC-JP 22 22024027 22024027 single base substitution G T upstream_gene_variant LINC-JP 22 22031526 22031526 single base substitution C T downstream_gene_variant LINC-JP 22 22031526 22031526 single base substitution C T intron_variant LINC-JP 22 22031531 22031531 single base substitution A C downstream_gene_variant LINC-JP 22 22031531 22031531 single base substitution A C intron_variant LINC-JP 22 22034790 22034790 single base substitution A G intron_variant LINC-JP 22 22041992 22041992 single base substitution A G 3_prime_UTR_variant LINC-JP 22 22041992 22041992 single base substitution A G downstream_gene_variant LINC-JP 22 22041992 22041992 single base substitution A G exon_variant LINC-JP 22 22041992 22041992 single base substitution A G missense_variant I299V 895A>G LINC-JP 22 22041992 22041992 single base substitution A G missense_variant I320V 958A>G LINC-JP 22 22055618 22055618 single base substitution T C downstream_gene_variant LIRI-JP 22 22008315 22008315 single base substitution G T exon_variant LIRI-JP 22 22014449 22014449 single base substitution T C intron_variant LIRI-JP 22 22014453 22014453 single base substitution T G intron_variant LIRI-JP 22 22017001 22017001 single base substitution C T intron_variant LIRI-JP 22 22017001 22017001 single base substitution C T upstream_gene_variant LIRI-JP 22 22020087 22020087 single base substitution G A intron_variant LIRI-JP 22 22020087 22020087 single base substitution G A upstream_gene_variant LIRI-JP 22 22021778 22021778 single base substitution A G intron_variant LIRI-JP 22 22021778 22021778 single base substitution A G upstream_gene_variant LIRI-JP 22 22025844 22025844 single base substitution T C downstream_gene_variant LIRI-JP 22 22025844 22025844 single base substitution T C intron_variant LIRI-JP 22 22025844 22025844 single base substitution T C upstream_gene_variant LIRI-JP 22 22027116 22027116 single base substitution G A downstream_gene_variant LIRI-JP 22 22027116 22027116 single base substitution G A intron_variant LIRI-JP 22 22028044 22028044 single base substitution G A downstream_gene_variant LIRI-JP 22 22028044 22028044 single base substitution G A intron_variant LIRI-JP 22 22028929 22028929 single base substitution G T downstream_gene_variant LIRI-JP 22 22028929 22028929 single base substitution G T intron_variant LIRI-JP 22 22030479 22030479 single base substitution C A downstream_gene_variant LIRI-JP 22 22030479 22030479 single base substitution C A intron_variant LIRI-JP 22 22034088 22034088 single base substitution C A intron_variant LIRI-JP 22 22036297 22036297 single base substitution G A downstream_gene_variant LIRI-JP 22 22036297 22036297 single base substitution G A intron_variant LIRI-JP 22 22036297 22036297 single base substitution G A upstream_gene_variant LIRI-JP 22 22037829 22037829 single base substitution C T downstream_gene_variant LIRI-JP 22 22037829 22037829 single base substitution C T intron_variant LIRI-JP 22 22037829 22037829 single base substitution C T upstream_gene_variant LIRI-JP 22 22042046 22042046 single base substitution C G downstream_gene_variant LIRI-JP 22 22042046 22042046 single base substitution C G intron_variant LIRI-JP 22 22045184 22045184 single base substitution T G intron_variant LIRI-JP 22 22045184 22045184 single base substitution T G upstream_gene_variant LIRI-JP 22 22050719 22050719 single base substitution T C 3_prime_UTR_variant LIRI-JP 22 22050719 22050719 single base substitution T C downstream_gene_variant LIRI-JP 22 22050719 22050719 single base substitution T C intron_variant LIRI-JP 22 22052915 22052915 single base substitution A C 3_prime_UTR_variant LIRI-JP 22 22052915 22052915 single base substitution A C downstream_gene_variant LIRI-JP 22 22052943 22052943 single base substitution G A 3_prime_UTR_variant LIRI-JP 22 22052943 22052943 single base substitution G A downstream_gene_variant LIRI-JP 22 22055934 22055934 single base substitution G T downstream_gene_variant LIRI-JP 22 22058300 22058300 single base substitution C A downstream_gene_variant LUSC-KR 22 22007426 22007426 single base substitution C T intron_variant LUSC-KR 22 22010741 22010741 single base substitution A G intron_variant LUSC-KR 22 22013369 22013369 single base substitution A G intron_variant LUSC-KR 22 22013535 22013535 single base substitution C A intron_variant LUSC-KR 22 22016949 22016949 single base substitution T G intron_variant LUSC-KR 22 22016949 22016949 single base substitution T G upstream_gene_variant LUSC-KR 22 22021735 22021735 single base substitution G C intron_variant LUSC-KR 22 22021735 22021735 single base substitution G C upstream_gene_variant LUSC-KR 22 22023050 22023050 single base substitution G C intron_variant LUSC-KR 22 22023050 22023050 single base substitution G C upstream_gene_variant LUSC-KR 22 22024150 22024150 single base substitution C T intron_variant LUSC-KR 22 22024150 22024150 single base substitution C T upstream_gene_variant LUSC-KR 22 22025249 22025249 single base substitution G T downstream_gene_variant LUSC-KR 22 22025249 22025249 single base substitution G T exon_variant LUSC-KR 22 22025249 22025249 single base substitution G T intron_variant LUSC-KR 22 22025249 22025249 single base substitution G T upstream_gene_variant LUSC-KR 22 22025476 22025476 single base substitution A G downstream_gene_variant LUSC-KR 22 22025476 22025476 single base substitution A G intron_variant LUSC-KR 22 22025476 22025476 single base substitution A G upstream_gene_variant LUSC-KR 22 22028537 22028537 single base substitution C G downstream_gene_variant LUSC-KR 22 22028537 22028537 single base substitution C G intron_variant LUSC-KR 22 22029554 22029554 single base substitution C T downstream_gene_variant LUSC-KR 22 22029554 22029554 single base substitution C T intron_variant LUSC-KR 22 22031252 22031252 single base substitution G T downstream_gene_variant LUSC-KR 22 22031252 22031252 single base substitution G T intron_variant LUSC-KR 22 22034080 22034080 single base substitution A G intron_variant LUSC-KR 22 22036653 22036653 single base substitution G T downstream_gene_variant LUSC-KR 22 22036653 22036653 single base substitution G T intron_variant LUSC-KR 22 22036653 22036653 single base substitution G T upstream_gene_variant LUSC-KR 22 22039228 22039228 single base substitution A T downstream_gene_variant LUSC-KR 22 22039228 22039228 single base substitution A T intron_variant LUSC-KR 22 22039228 22039228 single base substitution A T upstream_gene_variant LUSC-KR 22 22044372 22044372 single base substitution G A intron_variant LUSC-KR 22 22044372 22044372 single base substitution G A upstream_gene_variant LUSC-KR 22 22048862 22048862 single base substitution C T intron_variant LUSC-KR 22 22048862 22048862 single base substitution C T upstream_gene_variant LUSC-KR 22 22049783 22049783 single base substitution C T 3_prime_UTR_variant LUSC-KR 22 22049783 22049783 single base substitution C T missense_variant A467V 1400C>T LUSC-KR 22 22049783 22049783 single base substitution C T splice_region_variant LUSC-KR 22 22050212 22050212 single base substitution G T 3_prime_UTR_variant LUSC-KR 22 22050212 22050212 single base substitution G T intron_variant LUSC-KR 22 22050650 22050650 single base substitution C A 3_prime_UTR_variant LUSC-KR 22 22050650 22050650 single base substitution C A downstream_gene_variant LUSC-KR 22 22050650 22050650 single base substitution C A intron_variant LUSC-KR 22 22054753 22054753 single base substitution A C downstream_gene_variant LUSC-KR 22 22054781 22054781 single base substitution G T downstream_gene_variant LUSC-KR 22 22055251 22055251 single base substitution G A downstream_gene_variant LUSC-KR 22 22055280 22055280 single base substitution A G downstream_gene_variant LUSC-KR 22 22055394 22055394 single base substitution A G downstream_gene_variant LUSC-KR 22 22056093 22056093 single base substitution C T downstream_gene_variant LUSC-KR 22 22056857 22056857 single base substitution G A downstream_gene_variant LUSC-KR 22 22058323 22058323 single base substitution A T downstream_gene_variant LUSC-US 22 22039088 22039088 single base substitution A T 3_prime_UTR_variant LUSC-US 22 22039088 22039088 single base substitution A T downstream_gene_variant LUSC-US 22 22039088 22039088 single base substitution A T exon_variant LUSC-US 22 22039088 22039088 single base substitution A T synonymous_variant T179T 537A>T LUSC-US 22 22039088 22039088 single base substitution A T synonymous_variant T200T 600A>T LUSC-US 22 22039088 22039088 single base substitution A T upstream_gene_variant MALY-DE 22 22013994 22013994 single base substitution A G intron_variant MALY-DE 22 22030350 22030350 single base substitution T G downstream_gene_variant MALY-DE 22 22030350 22030350 single base substitution T G intron_variant MALY-DE 22 22040090 22040090 single base substitution T A downstream_gene_variant MALY-DE 22 22040090 22040090 single base substitution T A intron_variant MALY-DE 22 22046690 22046690 single base substitution A G intron_variant MALY-DE 22 22046690 22046690 single base substitution A G upstream_gene_variant MALY-DE 22 22046694 22046694 single base substitution T C intron_variant MALY-DE 22 22046694 22046694 single base substitution T C upstream_gene_variant MALY-DE 22 22052575 22052575 single base substitution C T 3_prime_UTR_variant MALY-DE 22 22052575 22052575 single base substitution C T downstream_gene_variant MELA-AU 22 22002527 22002527 single base substitution C T upstream_gene_variant MELA-AU 22 22002551 22002551 single base substitution C T upstream_gene_variant MELA-AU 22 22003467 22003467 single base substitution C T upstream_gene_variant MELA-AU 22 22004410 22004410 single base substitution C T upstream_gene_variant MELA-AU 22 22004458 22004458 single base substitution C T upstream_gene_variant MELA-AU 22 22004549 22004549 single base substitution A G upstream_gene_variant MELA-AU 22 22005216 22005216 single base substitution C T upstream_gene_variant MELA-AU 22 22006140 22006140 single base substitution C T upstream_gene_variant MELA-AU 22 22006772 22006772 single base substitution C T intron_variant MELA-AU 22 22007165 22007165 single base substitution C T intron_variant MELA-AU 22 22007632 22007632 single base substitution C T splice_region_variant MELA-AU 22 22008039 22008039 single base substitution C T intron_variant MELA-AU 22 22008130 22008130 single base substitution G T intron_variant MELA-AU 22 22008431 22008431 single base substitution C T exon_variant MELA-AU 22 22009006 22009006 single base substitution C T intron_variant MELA-AU 22 22009410 22009410 single base substitution T C intron_variant MELA-AU 22 22010859 22010859 single base substitution C T intron_variant MELA-AU 22 22011541 22011541 single base substitution G A intron_variant MELA-AU 22 22012373 22012373 single base substitution C T intron_variant MELA-AU 22 22013336 22013336 single base substitution G A intron_variant MELA-AU 22 22014662 22014662 single base substitution G A intron_variant MELA-AU 22 22015033 22015033 single base substitution G A intron_variant MELA-AU 22 22015246 22015246 single base substitution C T exon_variant MELA-AU 22 22015318 22015318 single base substitution G A splice_region_variant MELA-AU 22 22015318 22015318 single base substitution G A upstream_gene_variant MELA-AU 22 22016587 22016587 single base substitution C T intron_variant MELA-AU 22 22016587 22016587 single base substitution C T upstream_gene_variant MELA-AU 22 22016726 22016726 single base substitution C T intron_variant MELA-AU 22 22016726 22016726 single base substitution C T upstream_gene_variant MELA-AU 22 22017100 22017100 single base substitution A G intron_variant MELA-AU 22 22017100 22017100 single base substitution A G upstream_gene_variant MELA-AU 22 22017327 22017327 single base substitution G A intron_variant MELA-AU 22 22017327 22017327 single base substitution G A upstream_gene_variant MELA-AU 22 22017956 22017956 single base substitution C T intron_variant MELA-AU 22 22017956 22017956 single base substitution C T upstream_gene_variant MELA-AU 22 22017968 22017968 single base substitution C T intron_variant MELA-AU 22 22017968 22017968 single base substitution C T upstream_gene_variant MELA-AU 22 22018177 22018177 single base substitution C T intron_variant MELA-AU 22 22018177 22018177 single base substitution C T upstream_gene_variant MELA-AU 22 22018389 22018389 single base substitution C T intron_variant MELA-AU 22 22018389 22018389 single base substitution C T upstream_gene_variant MELA-AU 22 22018630 22018631 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 22 22018630 22018631 multiple base substitution (>=2bp and <=200bp) GG AT upstream_gene_variant MELA-AU 22 22018824 22018824 single base substitution A G intron_variant MELA-AU 22 22018824 22018824 single base substitution A G upstream_gene_variant MELA-AU 22 22018987 22018987 single base substitution G A intron_variant MELA-AU 22 22018987 22018987 single base substitution G A upstream_gene_variant MELA-AU 22 22019452 22019452 single base substitution G A intron_variant MELA-AU 22 22019452 22019452 single base substitution G A upstream_gene_variant MELA-AU 22 22019682 22019682 single base substitution G A intron_variant MELA-AU 22 22019682 22019682 single base substitution G A upstream_gene_variant MELA-AU 22 22019756 22019756 single base substitution G A intron_variant MELA-AU 22 22019756 22019756 single base substitution G A upstream_gene_variant MELA-AU 22 22019977 22019977 single base substitution G A intron_variant MELA-AU 22 22019977 22019977 single base substitution G A upstream_gene_variant MELA-AU 22 22020028 22020031 deletion of <=200bp AAAT - intron_variant MELA-AU 22 22020028 22020031 deletion of <=200bp AAAT - upstream_gene_variant MELA-AU 22 22020291 22020291 single base substitution G A 5_prime_UTR_variant MELA-AU 22 22020291 22020291 single base substitution G A intron_variant MELA-AU 22 22020291 22020291 single base substitution G A upstream_gene_variant MELA-AU 22 22020299 22020299 single base substitution G A 5_prime_UTR_variant MELA-AU 22 22020299 22020299 single base substitution G A exon_variant MELA-AU 22 22020299 22020299 single base substitution G A intron_variant MELA-AU 22 22020299 22020299 single base substitution G A upstream_gene_variant MELA-AU 22 22020515 22020515 single base substitution C T intron_variant MELA-AU 22 22020761 22020761 single base substitution G A intron_variant MELA-AU 22 22021860 22021860 single base substitution G A intron_variant MELA-AU 22 22021860 22021860 single base substitution G A upstream_gene_variant MELA-AU 22 22021889 22021889 single base substitution C T intron_variant MELA-AU 22 22021889 22021889 single base substitution C T upstream_gene_variant MELA-AU 22 22022374 22022374 single base substitution C T intron_variant MELA-AU 22 22022374 22022374 single base substitution C T upstream_gene_variant MELA-AU 22 22022387 22022387 single base substitution C T intron_variant MELA-AU 22 22022387 22022387 single base substitution C T upstream_gene_variant MELA-AU 22 22022430 22022430 single base substitution C T intron_variant MELA-AU 22 22022430 22022430 single base substitution C T upstream_gene_variant MELA-AU 22 22022711 22022711 single base substitution C T intron_variant MELA-AU 22 22022711 22022711 single base substitution C T upstream_gene_variant MELA-AU 22 22023331 22023331 single base substitution G A intron_variant MELA-AU 22 22023331 22023331 single base substitution G A upstream_gene_variant MELA-AU 22 22023630 22023630 single base substitution T G intron_variant MELA-AU 22 22023630 22023630 single base substitution T G missense_variant F14V 40T>G MELA-AU 22 22023630 22023630 single base substitution T G upstream_gene_variant MELA-AU 22 22024135 22024135 single base substitution C T intron_variant MELA-AU 22 22024135 22024135 single base substitution C T upstream_gene_variant MELA-AU 22 22024942 22024942 single base substitution C T downstream_gene_variant MELA-AU 22 22024942 22024942 single base substitution C T exon_variant MELA-AU 22 22024942 22024942 single base substitution C T intron_variant MELA-AU 22 22024942 22024942 single base substitution C T upstream_gene_variant MELA-AU 22 22024969 22024969 single base substitution C T downstream_gene_variant MELA-AU 22 22024969 22024969 single base substitution C T exon_variant MELA-AU 22 22024969 22024969 single base substitution C T intron_variant MELA-AU 22 22024969 22024969 single base substitution C T upstream_gene_variant MELA-AU 22 22024970 22024970 single base substitution C G downstream_gene_variant MELA-AU 22 22024970 22024970 single base substitution C G exon_variant MELA-AU 22 22024970 22024970 single base substitution C G intron_variant MELA-AU 22 22024970 22024970 single base substitution C G upstream_gene_variant MELA-AU 22 22025017 22025017 single base substitution C T downstream_gene_variant MELA-AU 22 22025017 22025017 single base substitution C T exon_variant MELA-AU 22 22025017 22025017 single base substitution C T intron_variant MELA-AU 22 22025017 22025017 single base substitution C T upstream_gene_variant MELA-AU 22 22025568 22025568 single base substitution C T downstream_gene_variant MELA-AU 22 22025568 22025568 single base substitution C T intron_variant MELA-AU 22 22025568 22025568 single base substitution C T upstream_gene_variant MELA-AU 22 22025640 22025640 single base substitution G A downstream_gene_variant MELA-AU 22 22025640 22025640 single base substitution G A intron_variant MELA-AU 22 22025640 22025640 single base substitution G A upstream_gene_variant MELA-AU 22 22026466 22026466 single base substitution C T downstream_gene_variant MELA-AU 22 22026466 22026466 single base substitution C T intron_variant MELA-AU 22 22026466 22026466 single base substitution C T upstream_gene_variant MELA-AU 22 22027164 22027164 single base substitution C T downstream_gene_variant MELA-AU 22 22027164 22027164 single base substitution C T intron_variant MELA-AU 22 22027467 22027467 single base substitution G A downstream_gene_variant MELA-AU 22 22027467 22027467 single base substitution G A intron_variant MELA-AU 22 22027567 22027567 single base substitution C T downstream_gene_variant MELA-AU 22 22027567 22027567 single base substitution C T intron_variant MELA-AU 22 22027594 22027594 single base substitution C T downstream_gene_variant MELA-AU 22 22027594 22027594 single base substitution C T intron_variant MELA-AU 22 22027617 22027617 single base substitution C T downstream_gene_variant MELA-AU 22 22027617 22027617 single base substitution C T intron_variant MELA-AU 22 22027972 22027972 single base substitution C T downstream_gene_variant MELA-AU 22 22027972 22027972 single base substitution C T intron_variant MELA-AU 22 22028085 22028085 single base substitution C T downstream_gene_variant MELA-AU 22 22028085 22028085 single base substitution C T intron_variant MELA-AU 22 22029082 22029082 single base substitution A G downstream_gene_variant MELA-AU 22 22029082 22029082 single base substitution A G intron_variant MELA-AU 22 22029441 22029441 single base substitution C T downstream_gene_variant MELA-AU 22 22029441 22029441 single base substitution C T intron_variant MELA-AU 22 22029502 22029502 single base substitution C T downstream_gene_variant MELA-AU 22 22029502 22029502 single base substitution C T intron_variant MELA-AU 22 22029631 22029631 single base substitution C T downstream_gene_variant MELA-AU 22 22029631 22029631 single base substitution C T intron_variant MELA-AU 22 22029652 22029652 single base substitution C T downstream_gene_variant MELA-AU 22 22029652 22029652 single base substitution C T intron_variant MELA-AU 22 22030125 22030125 single base substitution C T downstream_gene_variant MELA-AU 22 22030125 22030125 single base substitution C T intron_variant MELA-AU 22 22030381 22030381 single base substitution C G downstream_gene_variant MELA-AU 22 22030381 22030381 single base substitution C G intron_variant MELA-AU 22 22030595 22030595 single base substitution A T downstream_gene_variant MELA-AU 22 22030595 22030595 single base substitution A T intron_variant MELA-AU 22 22030708 22030708 single base substitution T C downstream_gene_variant MELA-AU 22 22030708 22030708 single base substitution T C intron_variant MELA-AU 22 22030916 22030916 single base substitution C T downstream_gene_variant MELA-AU 22 22030916 22030916 single base substitution C T intron_variant MELA-AU 22 22031050 22031050 single base substitution C T downstream_gene_variant MELA-AU 22 22031050 22031050 single base substitution C T intron_variant MELA-AU 22 22031741 22031741 single base substitution C T downstream_gene_variant MELA-AU 22 22031741 22031741 single base substitution C T intron_variant MELA-AU 22 22031748 22031748 single base substitution C T downstream_gene_variant MELA-AU 22 22031748 22031748 single base substitution C T intron_variant MELA-AU 22 22031754 22031754 single base substitution C T downstream_gene_variant MELA-AU 22 22031754 22031754 single base substitution C T intron_variant MELA-AU 22 22031765 22031765 single base substitution C T downstream_gene_variant MELA-AU 22 22031765 22031765 single base substitution C T intron_variant MELA-AU 22 22032844 22032844 single base substitution C T downstream_gene_variant MELA-AU 22 22032844 22032844 single base substitution C T intron_variant MELA-AU 22 22033170 22033170 single base substitution C T intron_variant MELA-AU 22 22033822 22033822 single base substitution T C intron_variant MELA-AU 22 22034202 22034202 single base substitution C T intron_variant MELA-AU 22 22034440 22034440 single base substitution C T intron_variant MELA-AU 22 22035092 22035092 single base substitution C T intron_variant MELA-AU 22 22035092 22035092 single base substitution C T upstream_gene_variant MELA-AU 22 22035287 22035287 single base substitution C T intron_variant MELA-AU 22 22035287 22035287 single base substitution C T upstream_gene_variant MELA-AU 22 22035756 22035756 single base substitution C T downstream_gene_variant MELA-AU 22 22035756 22035756 single base substitution C T intron_variant MELA-AU 22 22035756 22035756 single base substitution C T upstream_gene_variant MELA-AU 22 22035946 22035946 single base substitution C T downstream_gene_variant MELA-AU 22 22035946 22035946 single base substitution C T intron_variant MELA-AU 22 22035946 22035946 single base substitution C T upstream_gene_variant MELA-AU 22 22036170 22036170 single base substitution C T downstream_gene_variant MELA-AU 22 22036170 22036170 single base substitution C T intron_variant MELA-AU 22 22036170 22036170 single base substitution C T upstream_gene_variant MELA-AU 22 22036200 22036200 single base substitution G A downstream_gene_variant MELA-AU 22 22036200 22036200 single base substitution G A intron_variant MELA-AU 22 22036200 22036200 single base substitution G A upstream_gene_variant MELA-AU 22 22036831 22036831 single base substitution C T downstream_gene_variant MELA-AU 22 22036831 22036831 single base substitution C T intron_variant MELA-AU 22 22036831 22036831 single base substitution C T upstream_gene_variant MELA-AU 22 22036925 22036925 single base substitution C T downstream_gene_variant MELA-AU 22 22036925 22036925 single base substitution C T intron_variant MELA-AU 22 22036925 22036925 single base substitution C T upstream_gene_variant MELA-AU 22 22037033 22037033 single base substitution C T downstream_gene_variant MELA-AU 22 22037033 22037033 single base substitution C T intron_variant MELA-AU 22 22037033 22037033 single base substitution C T upstream_gene_variant MELA-AU 22 22037051 22037051 single base substitution C T downstream_gene_variant MELA-AU 22 22037051 22037051 single base substitution C T intron_variant MELA-AU 22 22037051 22037051 single base substitution C T upstream_gene_variant MELA-AU 22 22037326 22037326 single base substitution C T downstream_gene_variant MELA-AU 22 22037326 22037326 single base substitution C T intron_variant MELA-AU 22 22037326 22037326 single base substitution C T upstream_gene_variant MELA-AU 22 22037609 22037610 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 22037609 22037610 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 22037609 22037610 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 22037863 22037863 single base substitution C T downstream_gene_variant MELA-AU 22 22037863 22037863 single base substitution C T intron_variant MELA-AU 22 22037863 22037863 single base substitution C T upstream_gene_variant MELA-AU 22 22038375 22038375 insertion of <=200bp - A downstream_gene_variant MELA-AU 22 22038375 22038375 insertion of <=200bp - A intron_variant MELA-AU 22 22038375 22038375 insertion of <=200bp - A upstream_gene_variant MELA-AU 22 22038832 22038832 single base substitution C T downstream_gene_variant MELA-AU 22 22038832 22038832 single base substitution C T intron_variant MELA-AU 22 22038832 22038832 single base substitution C T upstream_gene_variant MELA-AU 22 22039360 22039360 single base substitution T C downstream_gene_variant MELA-AU 22 22039360 22039360 single base substitution T C intron_variant MELA-AU 22 22039360 22039360 single base substitution T C upstream_gene_variant MELA-AU 22 22040068 22040068 single base substitution T C downstream_gene_variant MELA-AU 22 22040068 22040068 single base substitution T C intron_variant MELA-AU 22 22040303 22040303 single base substitution C T downstream_gene_variant MELA-AU 22 22040303 22040303 single base substitution C T intron_variant MELA-AU 22 22040782 22040782 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22040782 22040782 single base substitution C T downstream_gene_variant MELA-AU 22 22040782 22040782 single base substitution C T exon_variant MELA-AU 22 22040782 22040782 single base substitution C T missense_variant S221F 662C>T MELA-AU 22 22040782 22040782 single base substitution C T missense_variant S242F 725C>T MELA-AU 22 22041526 22041526 single base substitution C T downstream_gene_variant MELA-AU 22 22041526 22041526 single base substitution C T intron_variant MELA-AU 22 22042009 22042010 multiple base substitution (>=2bp and <=200bp) CC GT 3_prime_UTR_variant MELA-AU 22 22042009 22042010 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 22 22042009 22042010 multiple base substitution (>=2bp and <=200bp) CC GT exon_variant MELA-AU 22 22042009 22042010 multiple base substitution (>=2bp and <=200bp) CC GT missense_variant IR304MW MELA-AU 22 22042009 22042010 multiple base substitution (>=2bp and <=200bp) CC GT missense_variant IR325MW MELA-AU 22 22042216 22042216 single base substitution G A downstream_gene_variant MELA-AU 22 22042216 22042216 single base substitution G A intron_variant MELA-AU 22 22042571 22042571 single base substitution C T downstream_gene_variant MELA-AU 22 22042571 22042571 single base substitution C T intron_variant MELA-AU 22 22043004 22043004 single base substitution G A downstream_gene_variant MELA-AU 22 22043004 22043004 single base substitution G A intron_variant MELA-AU 22 22043008 22043008 single base substitution C T downstream_gene_variant MELA-AU 22 22043008 22043008 single base substitution C T intron_variant MELA-AU 22 22043061 22043061 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22043061 22043061 single base substitution C T downstream_gene_variant MELA-AU 22 22043061 22043061 single base substitution C T exon_variant MELA-AU 22 22043061 22043061 single base substitution C T synonymous_variant F333F 999C>T MELA-AU 22 22043061 22043061 single base substitution C T synonymous_variant F354F 1062C>T MELA-AU 22 22043086 22043086 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22043086 22043086 single base substitution C T downstream_gene_variant MELA-AU 22 22043086 22043086 single base substitution C T exon_variant MELA-AU 22 22043086 22043086 single base substitution C T missense_variant R342C 1024C>T MELA-AU 22 22043086 22043086 single base substitution C T missense_variant R363C 1087C>T MELA-AU 22 22043782 22043782 single base substitution T C downstream_gene_variant MELA-AU 22 22043782 22043782 single base substitution T C intron_variant MELA-AU 22 22043934 22043934 single base substitution C T downstream_gene_variant MELA-AU 22 22043934 22043934 single base substitution C T intron_variant MELA-AU 22 22045070 22045070 single base substitution C T intron_variant MELA-AU 22 22045070 22045070 single base substitution C T upstream_gene_variant MELA-AU 22 22045241 22045241 single base substitution C T intron_variant MELA-AU 22 22045241 22045241 single base substitution C T upstream_gene_variant MELA-AU 22 22045264 22045264 single base substitution T C intron_variant MELA-AU 22 22045264 22045264 single base substitution T C upstream_gene_variant MELA-AU 22 22045355 22045355 single base substitution G A intron_variant MELA-AU 22 22045355 22045355 single base substitution G A upstream_gene_variant MELA-AU 22 22045616 22045616 single base substitution C T intron_variant MELA-AU 22 22045616 22045616 single base substitution C T upstream_gene_variant MELA-AU 22 22046208 22046208 single base substitution C T intron_variant MELA-AU 22 22046208 22046208 single base substitution C T upstream_gene_variant MELA-AU 22 22047114 22047114 single base substitution C T intron_variant MELA-AU 22 22047114 22047114 single base substitution C T upstream_gene_variant MELA-AU 22 22047845 22047846 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 22047845 22047846 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 22048271 22048271 single base substitution C T intron_variant MELA-AU 22 22048271 22048271 single base substitution C T upstream_gene_variant MELA-AU 22 22048440 22048440 single base substitution C T intron_variant MELA-AU 22 22048440 22048440 single base substitution C T upstream_gene_variant MELA-AU 22 22048565 22048565 single base substitution G A intron_variant MELA-AU 22 22048565 22048565 single base substitution G A upstream_gene_variant MELA-AU 22 22048872 22048873 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 22048872 22048873 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 22 22049538 22049538 single base substitution G A exon_variant MELA-AU 22 22049538 22049538 single base substitution G A intron_variant MELA-AU 22 22049974 22049974 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22049974 22049974 single base substitution C T intron_variant MELA-AU 22 22050297 22050297 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22050297 22050297 single base substitution C T intron_variant MELA-AU 22 22050563 22050563 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22050563 22050563 single base substitution C T downstream_gene_variant MELA-AU 22 22050563 22050563 single base substitution C T intron_variant MELA-AU 22 22051124 22051124 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22051124 22051124 single base substitution C T downstream_gene_variant MELA-AU 22 22051124 22051124 single base substitution C T intron_variant MELA-AU 22 22051712 22051712 single base substitution C T 3_prime_UTR_variant MELA-AU 22 22051712 22051712 single base substitution C T downstream_gene_variant MELA-AU 22 22051712 22051712 single base substitution C T exon_variant MELA-AU 22 22052041 22052042 multiple base substitution (>=2bp and <=200bp) GG AC 3_prime_UTR_variant MELA-AU 22 22052041 22052042 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 22 22052041 22052042 multiple base substitution (>=2bp and <=200bp) GG AC exon_variant MELA-AU 22 22052072 22052072 single base substitution G A 3_prime_UTR_variant MELA-AU 22 22052072 22052072 single base substitution G A downstream_gene_variant MELA-AU 22 22052072 22052072 single base substitution G A exon_variant MELA-AU 22 22053649 22053649 single base substitution G A 3_prime_UTR_variant MELA-AU 22 22053649 22053649 single base substitution G A downstream_gene_variant MELA-AU 22 22053893 22053893 single base substitution G A 3_prime_UTR_variant MELA-AU 22 22053893 22053893 single base substitution G A downstream_gene_variant MELA-AU 22 22054735 22054736 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 22054802 22054802 single base substitution C T downstream_gene_variant MELA-AU 22 22055517 22055517 single base substitution G A downstream_gene_variant MELA-AU 22 22056107 22056107 single base substitution G T downstream_gene_variant MELA-AU 22 22056757 22056757 single base substitution C T downstream_gene_variant MELA-AU 22 22056969 22056969 single base substitution C T downstream_gene_variant MELA-AU 22 22059031 22059031 single base substitution G A downstream_gene_variant ORCA-IN 22 22030565 22030565 single base substitution G C downstream_gene_variant ORCA-IN 22 22030565 22030565 single base substitution G C intron_variant ORCA-IN 22 22031987 22031987 single base substitution C A downstream_gene_variant ORCA-IN 22 22031987 22031987 single base substitution C A intron_variant OV-AU 22 22002582 22002582 single base substitution G A upstream_gene_variant OV-AU 22 22007388 22007388 single base substitution C T intron_variant OV-AU 22 22011517 22011517 single base substitution G A intron_variant OV-AU 22 22018325 22018325 single base substitution G A intron_variant OV-AU 22 22018325 22018325 single base substitution G A upstream_gene_variant OV-AU 22 22021964 22021964 single base substitution T A intron_variant OV-AU 22 22021964 22021964 single base substitution T A upstream_gene_variant OV-AU 22 22028139 22028139 single base substitution G A downstream_gene_variant OV-AU 22 22028139 22028139 single base substitution G A intron_variant OV-AU 22 22032227 22032227 single base substitution G T downstream_gene_variant OV-AU 22 22032227 22032227 single base substitution G T intron_variant OV-AU 22 22042184 22042184 single base substitution G C downstream_gene_variant OV-AU 22 22042184 22042184 single base substitution G C intron_variant PACA-AU 22 22010994 22010994 single base substitution A C intron_variant PACA-AU 22 22015786 22015786 single base substitution A T intron_variant PACA-AU 22 22015786 22015786 single base substitution A T upstream_gene_variant PACA-AU 22 22016144 22016144 single base substitution C T intron_variant PACA-AU 22 22016144 22016144 single base substitution C T upstream_gene_variant PACA-AU 22 22019808 22019808 single base substitution G A intron_variant PACA-AU 22 22019808 22019808 single base substitution G A upstream_gene_variant PACA-AU 22 22031359 22031359 single base substitution G A downstream_gene_variant PACA-AU 22 22031359 22031359 single base substitution G A intron_variant PACA-AU 22 22039239 22039239 single base substitution C T downstream_gene_variant PACA-AU 22 22039239 22039239 single base substitution C T intron_variant PACA-AU 22 22039239 22039239 single base substitution C T upstream_gene_variant PACA-AU 22 22042959 22043000 deletion of <=200bp TTTCTAGTTCTGCCTCGGCTGGGGCCCAGGCTTTCCTGCTCC - downstream_gene_variant PACA-AU 22 22042959 22043000 deletion of <=200bp TTTCTAGTTCTGCCTCGGCTGGGGCCCAGGCTTTCCTGCTCC - intron_variant PACA-AU 22 22043770 22043770 single base substitution G A downstream_gene_variant PACA-AU 22 22043770 22043770 single base substitution G A intron_variant PACA-AU 22 22046354 22046358 deletion of <=200bp TTTTC - intron_variant PACA-AU 22 22046354 22046358 deletion of <=200bp TTTTC - upstream_gene_variant PACA-AU 22 22051371 22051371 single base substitution C A 3_prime_UTR_variant PACA-AU 22 22051371 22051371 single base substitution C A downstream_gene_variant PACA-AU 22 22051371 22051371 single base substitution C A exon_variant PACA-AU 22 22055569 22055570 deletion of <=200bp TT - downstream_gene_variant PACA-AU 22 22055986 22055986 single base substitution C G downstream_gene_variant PACA-CA 22 22002043 22002043 single base substitution C G upstream_gene_variant PACA-CA 22 22003095 22003095 single base substitution G T upstream_gene_variant PACA-CA 22 22003855 22003855 single base substitution T G upstream_gene_variant PACA-CA 22 22006688 22006688 single base substitution G A intron_variant PACA-CA 22 22007160 22007160 single base substitution G A intron_variant PACA-CA 22 22009439 22009439 single base substitution A T intron_variant PACA-CA 22 22017205 22017205 single base substitution G C intron_variant PACA-CA 22 22017205 22017205 single base substitution G C upstream_gene_variant PACA-CA 22 22019233 22019233 single base substitution C T intron_variant PACA-CA 22 22019233 22019233 single base substitution C T upstream_gene_variant PACA-CA 22 22019405 22019405 single base substitution G T intron_variant PACA-CA 22 22019405 22019405 single base substitution G T upstream_gene_variant PACA-CA 22 22021631 22021631 single base substitution G C intron_variant PACA-CA 22 22021631 22021631 single base substitution G C upstream_gene_variant PACA-CA 22 22026062 22026062 single base substitution C T downstream_gene_variant PACA-CA 22 22026062 22026062 single base substitution C T intron_variant PACA-CA 22 22026062 22026062 single base substitution C T upstream_gene_variant PACA-CA 22 22028669 22028669 insertion of <=200bp - A downstream_gene_variant PACA-CA 22 22028669 22028669 insertion of <=200bp - A intron_variant PACA-CA 22 22032589 22032589 single base substitution C T downstream_gene_variant PACA-CA 22 22032589 22032589 single base substitution C T intron_variant PACA-CA 22 22036036 22036036 single base substitution G A downstream_gene_variant PACA-CA 22 22036036 22036036 single base substitution G A intron_variant PACA-CA 22 22036036 22036036 single base substitution G A upstream_gene_variant PACA-CA 22 22036197 22036197 single base substitution G A downstream_gene_variant PACA-CA 22 22036197 22036197 single base substitution G A intron_variant PACA-CA 22 22036197 22036197 single base substitution G A upstream_gene_variant PACA-CA 22 22043782 22043782 single base substitution T C downstream_gene_variant PACA-CA 22 22043782 22043782 single base substitution T C intron_variant PACA-CA 22 22048901 22048901 single base substitution G A 3_prime_UTR_variant PACA-CA 22 22048901 22048901 single base substitution G A exon_variant PACA-CA 22 22048901 22048901 single base substitution G A missense_variant V385I 1153G>A PACA-CA 22 22048901 22048901 single base substitution G A missense_variant V406I 1216G>A PACA-CA 22 22048901 22048901 single base substitution G A upstream_gene_variant PACA-CA 22 22050556 22050556 single base substitution G A 3_prime_UTR_variant PACA-CA 22 22050556 22050556 single base substitution G A downstream_gene_variant PACA-CA 22 22050556 22050556 single base substitution G A intron_variant PACA-CA 22 22050945 22050945 deletion of <=200bp C - 3_prime_UTR_variant PACA-CA 22 22050945 22050945 deletion of <=200bp C - downstream_gene_variant PACA-CA 22 22050945 22050945 deletion of <=200bp C - intron_variant PACA-CA 22 22051299 22051299 single base substitution C A 3_prime_UTR_variant PACA-CA 22 22051299 22051299 single base substitution C A downstream_gene_variant PACA-CA 22 22051299 22051299 single base substitution C A exon_variant PACA-CA 22 22053965 22053965 single base substitution G T 3_prime_UTR_variant PACA-CA 22 22053965 22053965 single base substitution G T downstream_gene_variant PACA-CA 22 22055279 22055279 single base substitution G A downstream_gene_variant PACA-CA 22 22057635 22057635 single base substitution C T downstream_gene_variant PAEN-IT 22 22014236 22014236 single base substitution G A intron_variant PAEN-IT 22 22015856 22015856 single base substitution G C intron_variant PAEN-IT 22 22015856 22015856 single base substitution G C upstream_gene_variant PAEN-IT 22 22017463 22017463 single base substitution C A intron_variant PAEN-IT 22 22017463 22017463 single base substitution C A upstream_gene_variant PBCA-DE 22 22018452 22018452 single base substitution G A intron_variant PBCA-DE 22 22018452 22018452 single base substitution G A upstream_gene_variant PBCA-DE 22 22029750 22029750 deletion of <=200bp A - downstream_gene_variant PBCA-DE 22 22029750 22029750 deletion of <=200bp A - intron_variant PBCA-DE 22 22030533 22030534 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 22 22030533 22030534 deletion of <=200bp GT - intron_variant PBCA-DE 22 22035654 22035654 single base substitution C T 3_prime_UTR_variant PBCA-DE 22 22035654 22035654 single base substitution C T exon_variant PBCA-DE 22 22035654 22035654 single base substitution C T missense_variant T100M 299C>T PBCA-DE 22 22035654 22035654 single base substitution C T missense_variant T121M 362C>T PBCA-DE 22 22035654 22035654 single base substitution C T missense_variant T152M 455C>T PBCA-DE 22 22035654 22035654 single base substitution C T upstream_gene_variant PBCA-DE 22 22046430 22046430 single base substitution T C intron_variant PBCA-DE 22 22046430 22046430 single base substitution T C upstream_gene_variant PBCA-DE 22 22048040 22048040 single base substitution G A intron_variant PBCA-DE 22 22048040 22048040 single base substitution G A upstream_gene_variant PBCA-DE 22 22054282 22054282 single base substitution T C 3_prime_UTR_variant PBCA-DE 22 22054282 22054282 single base substitution T C downstream_gene_variant PRAD-CA 22 22018826 22018826 single base substitution G A intron_variant PRAD-CA 22 22018826 22018826 single base substitution G A upstream_gene_variant PRAD-CA 22 22025691 22025691 single base substitution A G downstream_gene_variant PRAD-CA 22 22025691 22025691 single base substitution A G intron_variant PRAD-CA 22 22025691 22025691 single base substitution A G upstream_gene_variant PRAD-UK 22 22004228 22004228 single base substitution G A upstream_gene_variant PRAD-UK 22 22027283 22027283 single base substitution G A downstream_gene_variant PRAD-UK 22 22027283 22027283 single base substitution G A intron_variant PRAD-UK 22 22034196 22034196 single base substitution G A intron_variant READ-US 22 22042373 22042373 single base substitution C A 3_prime_UTR_variant READ-US 22 22042373 22042373 single base substitution C A downstream_gene_variant READ-US 22 22042373 22042373 single base substitution C A exon_variant READ-US 22 22042373 22042373 single base substitution C A synonymous_variant G312G 936C>A READ-US 22 22042373 22042373 single base substitution C A synonymous_variant G333G 999C>A RECA-EU 22 22008202 22008202 single base substitution G A intron_variant RECA-EU 22 22010705 22010705 single base substitution G A intron_variant RECA-EU 22 22010741 22010741 single base substitution A G intron_variant RECA-EU 22 22020815 22020815 single base substitution C T intron_variant RECA-EU 22 22026420 22026420 single base substitution C G downstream_gene_variant RECA-EU 22 22026420 22026420 single base substitution C G intron_variant RECA-EU 22 22026420 22026420 single base substitution C G upstream_gene_variant SKCA-BR 22 22006112 22006112 single base substitution T G upstream_gene_variant SKCA-BR 22 22010412 22010412 single base substitution C T intron_variant SKCA-BR 22 22010692 22010698 deletion of <=200bp GGAGGGA - intron_variant SKCA-BR 22 22010692 22010706 deletion of <=200bp GGAGGGAGAGAGAGA - intron_variant SKCA-BR 22 22010699 22010699 single base substitution G A intron_variant SKCA-BR 22 22010717 22010717 single base substitution G A intron_variant SKCA-BR 22 22010723 22010723 single base substitution G A intron_variant SKCA-BR 22 22010741 22010741 single base substitution A G intron_variant SKCA-BR 22 22010747 22010747 single base substitution G A intron_variant SKCA-BR 22 22010749 22010749 single base substitution A G intron_variant SKCA-BR 22 22011933 22011933 single base substitution A G intron_variant SKCA-BR 22 22012408 22012408 single base substitution T G intron_variant SKCA-BR 22 22014377 22014377 single base substitution C T intron_variant SKCA-BR 22 22014716 22014716 single base substitution C T intron_variant SKCA-BR 22 22015080 22015080 single base substitution C T intron_variant SKCA-BR 22 22017478 22017490 deletion of <=200bp GTAATAATAATAA - intron_variant SKCA-BR 22 22017478 22017490 deletion of <=200bp GTAATAATAATAA - upstream_gene_variant SKCA-BR 22 22019695 22019695 single base substitution T G intron_variant SKCA-BR 22 22019695 22019695 single base substitution T G upstream_gene_variant SKCA-BR 22 22020005 22020005 single base substitution G A intron_variant SKCA-BR 22 22020005 22020005 single base substitution G A upstream_gene_variant SKCA-BR 22 22020298 22020298 single base substitution G A 5_prime_UTR_variant SKCA-BR 22 22020298 22020298 single base substitution G A exon_variant SKCA-BR 22 22020298 22020298 single base substitution G A intron_variant SKCA-BR 22 22020298 22020298 single base substitution G A upstream_gene_variant SKCA-BR 22 22022800 22022800 single base substitution A C intron_variant SKCA-BR 22 22022800 22022800 single base substitution A C upstream_gene_variant SKCA-BR 22 22024278 22024278 single base substitution C T exon_variant SKCA-BR 22 22024278 22024278 single base substitution C T intron_variant SKCA-BR 22 22024278 22024278 single base substitution C T upstream_gene_variant SKCA-BR 22 22024687 22024687 single base substitution C T downstream_gene_variant SKCA-BR 22 22024687 22024687 single base substitution C T intron_variant SKCA-BR 22 22024687 22024687 single base substitution C T upstream_gene_variant SKCA-BR 22 22025476 22025476 single base substitution A G downstream_gene_variant SKCA-BR 22 22025476 22025476 single base substitution A G intron_variant SKCA-BR 22 22025476 22025476 single base substitution A G upstream_gene_variant SKCA-BR 22 22028734 22028734 single base substitution A G downstream_gene_variant SKCA-BR 22 22028734 22028734 single base substitution A G intron_variant SKCA-BR 22 22032482 22032482 single base substitution T G downstream_gene_variant SKCA-BR 22 22032482 22032482 single base substitution T G intron_variant SKCA-BR 22 22033182 22033183 deletion of <=200bp AT - intron_variant SKCA-BR 22 22035187 22035187 single base substitution C T intron_variant SKCA-BR 22 22035187 22035187 single base substitution C T upstream_gene_variant SKCA-BR 22 22035736 22035736 single base substitution C T downstream_gene_variant SKCA-BR 22 22035736 22035736 single base substitution C T intron_variant SKCA-BR 22 22035736 22035736 single base substitution C T upstream_gene_variant SKCA-BR 22 22036467 22036467 single base substitution T A downstream_gene_variant SKCA-BR 22 22036467 22036467 single base substitution T A intron_variant SKCA-BR 22 22036467 22036467 single base substitution T A upstream_gene_variant SKCA-BR 22 22037143 22037143 single base substitution A C downstream_gene_variant SKCA-BR 22 22037143 22037143 single base substitution A C intron_variant SKCA-BR 22 22037143 22037143 single base substitution A C upstream_gene_variant SKCA-BR 22 22045315 22045315 single base substitution G A intron_variant SKCA-BR 22 22045315 22045315 single base substitution G A upstream_gene_variant SKCA-BR 22 22045977 22045977 insertion of <=200bp - CA intron_variant SKCA-BR 22 22045977 22045977 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 22 22048931 22048931 single base substitution G T 3_prime_UTR_variant SKCA-BR 22 22048931 22048931 single base substitution G T exon_variant SKCA-BR 22 22048931 22048931 single base substitution G T missense_variant D395Y 1183G>T SKCA-BR 22 22048931 22048931 single base substitution G T missense_variant D416Y 1246G>T SKCA-BR 22 22048931 22048931 single base substitution G T upstream_gene_variant SKCA-BR 22 22051709 22051709 single base substitution A G 3_prime_UTR_variant SKCA-BR 22 22051709 22051709 single base substitution A G downstream_gene_variant SKCA-BR 22 22051709 22051709 single base substitution A G exon_variant SKCA-BR 22 22054106 22054106 single base substitution A C 3_prime_UTR_variant SKCA-BR 22 22054106 22054106 single base substitution A C downstream_gene_variant SKCA-BR 22 22054164 22054164 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 22054164 22054164 single base substitution C T downstream_gene_variant SKCA-BR 22 22054804 22054804 single base substitution C T downstream_gene_variant SKCA-BR 22 22058000 22058000 single base substitution C G downstream_gene_variant SKCM-US 22 22024875 22024875 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22024875 22024875 single base substitution C T downstream_gene_variant SKCM-US 22 22024875 22024875 single base substitution C T exon_variant SKCM-US 22 22024875 22024875 single base substitution C T missense_variant R35C 103C>T SKCM-US 22 22024875 22024875 single base substitution C T missense_variant R66C 196C>T SKCM-US 22 22024875 22024875 single base substitution C T upstream_gene_variant SKCM-US 22 22025287 22025287 single base substitution C G downstream_gene_variant SKCM-US 22 22025287 22025287 single base substitution C G exon_variant SKCM-US 22 22025287 22025287 single base substitution C G intron_variant SKCM-US 22 22025287 22025287 single base substitution C G missense_variant L44V 130C>G SKCM-US 22 22025287 22025287 single base substitution C G missense_variant L75V 223C>G SKCM-US 22 22025287 22025287 single base substitution C G splice_region_variant SKCM-US 22 22025287 22025287 single base substitution C G upstream_gene_variant SKCM-US 22 22035615 22035615 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22035615 22035615 single base substitution C T exon_variant SKCM-US 22 22035615 22035615 single base substitution C T missense_variant T108I 323C>T SKCM-US 22 22035615 22035615 single base substitution C T missense_variant T139I 416C>T SKCM-US 22 22035615 22035615 single base substitution C T missense_variant T87I 260C>T SKCM-US 22 22035615 22035615 single base substitution C T upstream_gene_variant SKCM-US 22 22036790 22036790 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22036790 22036790 single base substitution C T downstream_gene_variant SKCM-US 22 22036790 22036790 single base substitution C T exon_variant SKCM-US 22 22036790 22036790 single base substitution C T missense_variant S130F 389C>T SKCM-US 22 22036790 22036790 single base substitution C T missense_variant S151F 452C>T SKCM-US 22 22036790 22036790 single base substitution C T upstream_gene_variant SKCM-US 22 22036806 22036806 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22036806 22036806 single base substitution C T downstream_gene_variant SKCM-US 22 22036806 22036806 single base substitution C T exon_variant SKCM-US 22 22036806 22036806 single base substitution C T synonymous_variant I135I 405C>T SKCM-US 22 22036806 22036806 single base substitution C T synonymous_variant I156I 468C>T SKCM-US 22 22036806 22036806 single base substitution C T upstream_gene_variant SKCM-US 22 22039122 22039122 single base substitution T A 3_prime_UTR_variant SKCM-US 22 22039122 22039122 single base substitution T A downstream_gene_variant SKCM-US 22 22039122 22039122 single base substitution T A exon_variant SKCM-US 22 22039122 22039122 single base substitution T A missense_variant Y191N 571T>A SKCM-US 22 22039122 22039122 single base substitution T A missense_variant Y212N 634T>A SKCM-US 22 22039122 22039122 single base substitution T A upstream_gene_variant SKCM-US 22 22039149 22039149 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22039149 22039149 single base substitution C T downstream_gene_variant SKCM-US 22 22039149 22039149 single base substitution C T exon_variant SKCM-US 22 22039149 22039149 single base substitution C T synonymous_variant L200L 598C>T SKCM-US 22 22039149 22039149 single base substitution C T synonymous_variant L221L 661C>T SKCM-US 22 22039149 22039149 single base substitution C T upstream_gene_variant SKCM-US 22 22040799 22040799 single base substitution G A 3_prime_UTR_variant SKCM-US 22 22040799 22040799 single base substitution G A downstream_gene_variant SKCM-US 22 22040799 22040799 single base substitution G A exon_variant SKCM-US 22 22040799 22040799 single base substitution G A missense_variant A227T 679G>A SKCM-US 22 22040799 22040799 single base substitution G A missense_variant A248T 742G>A SKCM-US 22 22040815 22040815 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22040815 22040815 single base substitution C T downstream_gene_variant SKCM-US 22 22040815 22040815 single base substitution C T exon_variant SKCM-US 22 22040815 22040815 single base substitution C T missense_variant T232I 695C>T SKCM-US 22 22040815 22040815 single base substitution C T missense_variant T253I 758C>T SKCM-US 22 22043086 22043086 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22043086 22043086 single base substitution C T downstream_gene_variant SKCM-US 22 22043086 22043086 single base substitution C T exon_variant SKCM-US 22 22043086 22043086 single base substitution C T missense_variant R342C 1024C>T SKCM-US 22 22043086 22043086 single base substitution C T missense_variant R363C 1087C>T SKCM-US 22 22049076 22049076 single base substitution C T 3_prime_UTR_variant SKCM-US 22 22049076 22049076 single base substitution C T exon_variant SKCM-US 22 22049076 22049076 single base substitution C T synonymous_variant F413F 1239C>T SKCM-US 22 22049076 22049076 single base substitution C T synonymous_variant F434F 1302C>T STAD-US 22 22024875 22024875 single base substitution C T 3_prime_UTR_variant STAD-US 22 22024875 22024875 single base substitution C T downstream_gene_variant STAD-US 22 22024875 22024875 single base substitution C T exon_variant STAD-US 22 22024875 22024875 single base substitution C T missense_variant R35C 103C>T STAD-US 22 22024875 22024875 single base substitution C T missense_variant R66C 196C>T STAD-US 22 22024875 22024875 single base substitution C T upstream_gene_variant STAD-US 22 22025326 22025326 single base substitution G A 3_prime_UTR_variant STAD-US 22 22025326 22025326 single base substitution G A downstream_gene_variant STAD-US 22 22025326 22025326 single base substitution G A exon_variant STAD-US 22 22025326 22025326 single base substitution G A intron_variant STAD-US 22 22025326 22025326 single base substitution G A missense_variant D57N 169G>A STAD-US 22 22025326 22025326 single base substitution G A missense_variant D88N 262G>A STAD-US 22 22025326 22025326 single base substitution G A upstream_gene_variant STAD-US 22 22035655 22035655 single base substitution G A 3_prime_UTR_variant STAD-US 22 22035655 22035655 single base substitution G A exon_variant STAD-US 22 22035655 22035655 single base substitution G A synonymous_variant T100T 300G>A STAD-US 22 22035655 22035655 single base substitution G A synonymous_variant T121T 363G>A STAD-US 22 22035655 22035655 single base substitution G A synonymous_variant T152T 456G>A STAD-US 22 22035655 22035655 single base substitution G A upstream_gene_variant STAD-US 22 22042393 22042393 single base substitution C T downstream_gene_variant STAD-US 22 22042393 22042393 single base substitution C T missense_variant T319M 956C>T STAD-US 22 22042393 22042393 single base substitution C T missense_variant T340M 1019C>T STAD-US 22 22042393 22042393 single base substitution C T splice_region_variant STAD-US 22 22057675 22057675 single base substitution G A downstream_gene_variant STAD-US 22 22057704 22057704 single base substitution G A downstream_gene_variant THCA-SA 22 22052913 22052913 single base substitution T C 3_prime_UTR_variant THCA-SA 22 22052913 22052913 single base substitution T C downstream_gene_variant THCA-US 22 22055423 22055423 single base substitution C T downstream_gene_variant UCEC-US 22 22036729 22036729 single base substitution G T 3_prime_UTR_variant UCEC-US 22 22036729 22036729 single base substitution G T downstream_gene_variant UCEC-US 22 22036729 22036729 single base substitution G T exon_variant UCEC-US 22 22036729 22036729 single base substitution G T missense_variant V110L 328G>T UCEC-US 22 22036729 22036729 single base substitution G T missense_variant V131L 391G>T UCEC-US 22 22036729 22036729 single base substitution G T upstream_gene_variant UCEC-US 22 22037492 22037492 single base substitution T C 3_prime_UTR_variant UCEC-US 22 22037492 22037492 single base substitution T C downstream_gene_variant UCEC-US 22 22037492 22037492 single base substitution T C exon_variant UCEC-US 22 22037492 22037492 single base substitution T C missense_variant F146L 436T>C UCEC-US 22 22037492 22037492 single base substitution T C missense_variant F167L 499T>C UCEC-US 22 22037492 22037492 single base substitution T C upstream_gene_variant UCEC-US 22 22037540 22037540 single base substitution G T 3_prime_UTR_variant UCEC-US 22 22037540 22037540 single base substitution G T downstream_gene_variant UCEC-US 22 22037540 22037540 single base substitution G T exon_variant UCEC-US 22 22037540 22037540 single base substitution G T missense_variant D162Y 484G>T UCEC-US 22 22037540 22037540 single base substitution G T missense_variant D183Y 547G>T UCEC-US 22 22037540 22037540 single base substitution G T upstream_gene_variant UCEC-US 22 22040799 22040799 single base substitution G A 3_prime_UTR_variant UCEC-US 22 22040799 22040799 single base substitution G A downstream_gene_variant UCEC-US 22 22040799 22040799 single base substitution G A exon_variant UCEC-US 22 22040799 22040799 single base substitution G A missense_variant A227T 679G>A UCEC-US 22 22040799 22040799 single base substitution G A missense_variant A248T 742G>A UCEC-US 22 22041947 22041947 single base substitution G A 3_prime_UTR_variant UCEC-US 22 22041947 22041947 single base substitution G A downstream_gene_variant UCEC-US 22 22041947 22041947 single base substitution G A exon_variant UCEC-US 22 22041947 22041947 single base substitution G A missense_variant E284K 850G>A UCEC-US 22 22041947 22041947 single base substitution G A missense_variant E305K 913G>A UCEC-US 22 22043055 22043055 single base substitution C T 3_prime_UTR_variant UCEC-US 22 22043055 22043055 single base substitution C T downstream_gene_variant UCEC-US 22 22043055 22043055 single base substitution C T exon_variant UCEC-US 22 22043055 22043055 single base substitution C T synonymous_variant D331D 993C>T UCEC-US 22 22043055 22043055 single base substitution C T synonymous_variant D352D 1056C>T UCEC-US 22 22048119 22048119 single base substitution G A 3_prime_UTR_variant UCEC-US 22 22048119 22048119 single base substitution G A exon_variant UCEC-US 22 22048119 22048119 single base substitution G A missense_variant R364H 1091G>A UCEC-US 22 22048119 22048119 single base substitution G A missense_variant R385H 1154G>A UCEC-US 22 22048119 22048119 single base substitution G A upstream_gene_variant UCEC-US 22 22049097 22049097 single base substitution C T 3_prime_UTR_variant UCEC-US 22 22049097 22049097 single base substitution C T exon_variant UCEC-US 22 22049097 22049097 single base substitution C T synonymous_variant A420A 1260C>T UCEC-US 22 22049097 22049097 single base substitution C T synonymous_variant A441A 1323C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand Pat_11_B COSM5858997 c.1474G>A p.A492T Substitution - Missense 22:21695401-21695401 + cSCCP1 COSM143437 c.995_996GG>AA p.G332E Substitution - Missense 22:21688080-21688081 + TCGA-ER-A194-01 COSM3552420 c.130C>G p.L44V Substitution - Missense 22:21670998-21670998 + CHC197T COSM3766687 c.1466+10G>T p.? Unknown 22:21695080-21695080 + TCGA-EE-A2MD-06 COSM3552424 c.1087C>T p.R363C Substitution - Missense 22:21688797-21688797 + TCGA-66-2788-01 COSM726224 c.600A>T p.T200T Substitution - coding silent 22:21684799-21684799 + SC_9001 COSM5559526 c.1221G>T p.L407L Substitution - coding silent 22:21694617-21694617 + ICGC_PA117 COSM3670257 c.362C>T p.T121M Substitution - Missense 22:21681365-21681365 + TCGA-BR-8081-01 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + S00501 COSM5658418 c.1436G>A p.G479D Substitution - Missense 22:21695040-21695040 + 2492720 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + TCGA-10-0927-01 COSM82305 c.414C>T p.A138A Substitution - coding silent 22:21682463-21682463 + TCGA-D9-A6EA-06 COSM4398641 c.452C>T p.S151F Substitution - Missense 22:21682501-21682501 + Pat_14_B COSM5858988 c.88C>T p.P30S Substitution - Missense 22:21670571-21670571 + T3724 COSM4716946 c.884T>C p.L295P Substitution - Missense 22:21686985-21686985 + STC252 COSM5057704 c.1090G>A p.G364S Substitution - Missense 22:21688800-21688800 + EV005-R3 COSM4410756 c.828_830delGAA p.K279delK Deletion - In frame 22:21686929-21686931 + TCGA-B5-A11H-01 COSM1032477 c.1323C>T p.A441A Substitution - coding silent 22:21694808-21694808 + T3454 COSM3308969 c.1280G>A p.R427H Substitution - Missense 22:21694765-21694765 + BCB301T COSM4790530 c.1538G>T p.G513V Substitution - Missense 22:21695465-21695465 + HCT116 COSM3308945 c.352G>A p.A118T Substitution - Missense 22:21681355-21681355 + pfg009T COSM1641510 c.296-1G>A p.? Unknown 22:21681298-21681298 + TCGA-CI-6621-01 COSM3424057 c.999C>A p.G333G Substitution - coding silent 22:21688084-21688084 + IGROV-1 COSM1682133 c.1082C>T p.T361M Substitution - Missense 22:21688792-21688792 + TCGA-G9-6351-01 COSM3673229 c.253G>T p.G85W Substitution - Missense 22:21675073-21675073 + 66 COSM4102894 c.169G>A p.D57N Substitution - Missense 22:21671037-21671037 + YUKAT COSM5393212 c.1233G>A p.E411E Substitution - coding silent 22:21694629-21694629 + SC_9103 COSM5555779 c.173G>A p.G58D Substitution - Missense 22:21671041-21671041 + NCHP_DIPG103 COSM4746251 c.655G>A p.E219K Substitution - Missense 22:21684854-21684854 + CLL049 COSM1291219 c.1334T>G p.I445S Substitution - Missense 22:21694938-21694938 + TCGA-EE-A2MR-06 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + TCGA-AP-A0LM-01 COSM1032475 c.1154G>A p.R385H Substitution - Missense 22:21693830-21693830 + YUSMI COSM5393209 c.847C>T p.R283W Substitution - Missense 22:21686948-21686948 + pfg129T COSM4410756 c.828_830delGAA p.K279delK Deletion - In frame 22:21686929-21686931 + BCB301T COSM4790530 c.1538G>T p.G513V Substitution - Missense 22:21695465-21695465 + YULAN COSM1714174 c.167C>T p.P56L Substitution - Missense 22:21671035-21671035 + LOVO COSM3308944 c.324C>T p.T108T Substitution - coding silent 22:21681327-21681327 + cSCCP7 COSM140295 c.988-1G>A p.? Unknown 22:21688072-21688072 + TCGA-ER-A19H-06 COSM1032472 c.742G>A p.A248T Substitution - Missense 22:21686510-21686510 + S00947 COSM5664676 c.1279C>T p.R427C Substitution - Missense 22:21694764-21694764 + TCGA-61-2097-01 COSM80377 c.579G>A p.P193P Substitution - coding silent 22:21684778-21684778 + TCGA-A6-2672-01 COSM291065 c.354T>C p.A118A Substitution - coding silent 22:21681357-21681357 + TCGA-BR-7703-01 COSM4102896 c.363G>A p.T121T Substitution - coding silent 22:21681366-21681366 + TCGA-AZ-6601-01 COSM1415086 c.711C>T p.N237N Substitution - coding silent 22:21684910-21684910 + TCGA-AO-A126-01 COSM444748 c.1514T>C p.M505T Substitution - Missense 22:21695441-21695441 + TCGA-B0-5706-01 COSM478770 c.972C>T p.S324S Substitution - coding silent 22:21687717-21687717 + 2492723 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + TCGA-FR-A69P-06 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + TCGA-AP-A059-01 COSM1032469 c.391G>T p.V131L Substitution - Missense 22:21682440-21682440 + TCGA-CG-4442-01 COSM4102894 c.169G>A p.D57N Substitution - Missense 22:21671037-21671037 + TCGA-D1-A17D-01 COSM1032478 c.1395G>A p.Q465Q Substitution - coding silent 22:21694999-21694999 + CSCC-29-T COSM4489531 c.348C>T p.I116I Substitution - coding silent 22:21681351-21681351 + CSCC-32-T COSM4519110 c.971_972CC>TT p.S324F Substitution - Missense 22:21687716-21687717 + TCGA-E2-A56Z-01 COSM5834086 c.415delA p.K139fs*7 Deletion - Frameshift 22:21682464-21682464 + CHC205T COSM3766687 c.1466+10G>T p.? Unknown 22:21695080-21695080 + Pat_44_B COSM5858991 c.295G>A p.G99R Substitution - Missense 22:21675115-21675115 + EV005-R6 COSM4410756 c.828_830delGAA p.K279delK Deletion - In frame 22:21686929-21686931 + TCGA-AA-A010-01 COSM284173 c.21A>G p.Q7Q Substitution - coding silent 22:21666120-21666120 + TCGA-ER-A2NF-06 COSM3552425 c.1302C>T p.F434F Substitution - coding silent 22:21694787-21694787 + TCGA-ER-A19W-06 COSM4398863 c.323C>T p.T108I Substitution - Missense 22:21681326-21681326 + BD236T COSM5519786 c.1002delC p.T336fs*72 Deletion - Frameshift 22:21688087-21688087 + TCGA-D3-A1Q6-06 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + TCGA-FS-A4F5-06 COSM3552423 c.758C>T p.T253I Substitution - Missense 22:21686526-21686526 + LUAD-CHTN-3090346 COSM356966 c.1005C>T p.P335P Substitution - coding silent 22:21688090-21688090 + S15_post COSM5574892 c.937A>C p.K313Q Substitution - Missense 22:21687682-21687682 + SC_9009 COSM5551621 c.441C>G p.D147E Substitution - Missense 22:21682490-21682490 + SJOS010_D COSM3308970 c.1337C>T p.A446V Substitution - Missense 22:21694941-21694941 + HCC102T COSM1616271 c.958A>G p.I320V Substitution - Missense 22:21687703-21687703 + S00022 COSM314374 c.1084G>T p.G362C Substitution - Missense 22:21688794-21688794 + CCK81 COSM3308969 c.1280G>A p.R427H Substitution - Missense 22:21694765-21694765 + TCGA-ER-A2NF-01 COSM3552425 c.1302C>T p.F434F Substitution - coding silent 22:21694787-21694787 + 2492722 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + Z138 COSM1741041 c.1467-8_1467-7delCT p.? Unknown 22:21695386-21695387 + HT115 COSM3308939 c.97A>C p.N33H Substitution - Missense 22:21670580-21670580 + LUAD-NYU259 COSM371869 c.325G>T p.V109L Substitution - Missense 22:21681328-21681328 + 1N45-VS-1T45 COSM4975864 c.520C>A p.H174N Substitution - Missense 22:21683224-21683224 + TCGA-AO-A0JB-01 COSM5834089 c.985_986insGCA p.V329>GM Complex - insertion inframe 22:21687730-21687731 + 1002 COSM5730560 c.1534C>T p.R512W Substitution - Missense 22:21695461-21695461 + B55-Tumor COSM4004859 c.1078C>T p.H360Y Substitution - Missense 22:21688788-21688788 + TCGA-FS-A1ZZ-06 COSM3552421 c.468C>T p.I156I Substitution - coding silent 22:21682517-21682517 + BD236T COSM5202701 c.654C>T p.D218D Substitution - coding silent 22:21684853-21684853 + TCGA-B5-A11E-01 COSM1032472 c.742G>A p.A248T Substitution - Missense 22:21686510-21686510 + 18 COSM5745481 c.1531A>G p.S511G Substitution - Missense 22:21695458-21695458 + pfg043T COSM4751114 c.158T>G p.V53G Substitution - Missense 22:21671026-21671026 + LUAD-RT-S01777 COSM382261 c.85C>T p.L29F Substitution - Missense 22:21670568-21670568 + TCGA-HT-8564-01 COSM3972873 c.1153C>T p.R385C Substitution - Missense 22:21693829-21693829 + CSCC-56-T COSM4502450 c.613C>G p.R205G Substitution - Missense 22:21684812-21684812 + TCGA-FW-A3R5-06 COSM3912442 c.661C>T p.L221L Substitution - coding silent 22:21684860-21684860 + TCGA-C8-A274-01 COSM1484096 c.922A>T p.I308F Substitution - Missense 22:21687667-21687667 + TCGA-CZ-5468-01 COSM478769 c.104G>A p.R35H Substitution - Missense 22:21670587-21670587 + 385 COSM4426954 c.310C>G p.P104A Substitution - Missense 22:21681313-21681313 + TCGA-BS-A0UV-01 COSM1032473 c.913G>A p.E305K Substitution - Missense 22:21687658-21687658 + PT28 COSM5906458 c.789A>T p.A263A Substitution - coding silent 22:21686557-21686557 + TCGA-D1-A0ZQ-01 COSM1032474 c.1056C>T p.D352D Substitution - coding silent 22:21688766-21688766 + HCC102 COSM1616271 c.958A>G p.I320V Substitution - Missense 22:21687703-21687703 + TCGA-B5-A11O-01 COSM1032468 c.128G>T p.S43I Substitution - Missense 22:21670611-21670611 + T3021 COSM3308967 c.1215C>T p.D405D Substitution - coding silent 22:21694611-21694611 + TCGA-G3-A7M7-01 COSM4929961 c.1413G>A p.Q471Q Substitution - coding silent 22:21695017-21695017 + TCGA-HU-A4H8-01 COSM4102898 c.1019C>T p.T340M Substitution - Missense 22:21688104-21688104 + TCGA-AA-3715-01 COSM269932 c.442G>A p.E148K Substitution - Missense 22:21682491-21682491 + TCGA-D1-A103-01 COSM1032470 c.499T>C p.F167L Substitution - Missense 22:21683203-21683203 + sysucc-1370T COSM5471444 c.1020G>A p.T340T Substitution - coding silent 22:21688105-21688105 + TCGA-AX-A0J0-01 COSM1032471 c.547G>T p.D183Y Substitution - Missense 22:21683251-21683251 + 12924 COSM5614856 c.509C>T p.S170F Substitution - Missense 22:21683213-21683213 + TCGA-AD-5900-01 COSM1415087 c.1009G>T p.G337C Substitution - Missense 22:21688094-21688094 + S00945 COSM3308969 c.1280G>A p.R427H Substitution - Missense 22:21694765-21694765 + TCGA-D3-A51E-06 COSM3552422 c.634T>A p.Y212N Substitution - Missense 22:21684833-21684833 + S00022 COSM314374 c.1084G>T p.G362C Substitution - Missense 22:21688794-21688794 + EV005-R2 COSM4410756 c.828_830delGAA p.K279delK Deletion - In frame 22:21686929-21686931 + TCGA-06-5856-01 COSM3405535 c.1004C>A p.P335H Substitution - Missense 22:21688089-21688089 + BD72T COSM4410756 c.828_830delGAA p.K279delK Deletion - In frame 22:21686929-21686931 + ESCC_BICR_071T COSM5433501 c.761C>T p.A254V Substitution - Missense 22:21686529-21686529 + TCGA-JW-A5VL-01 COSM4847808 c.348C>G p.I116M Substitution - Missense 22:21681351-21681351 + Pat_60_B COSM5858994 c.1088G>A p.R363H Substitution - Missense 22:21688798-21688798 + 2492721 COSM3552419 c.103C>T p.R35C Substitution - Missense 22:21670586-21670586 + TCGA-BK-A0C9-01 COSM1032476 c.1285G>A p.D429N Substitution - Missense 22:21694770-21694770 + EV005-R4 COSM4410756 c.828_830delGAA p.K279delK Deletion - In frame 22:21686929-21686931 + MO_1316 COSM5563735 c.1331A>C p.Q444P Substitution - Missense 22:21694816-21694816 + B64 COSM1751752 c.791-1G>T p.? Unknown 22:21686891-21686891 + WT026 COSM5351911 c.1482G>A p.E494E Substitution - coding silent 22:21695409-21695409 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.438587 22q11.21 607588 2475930|CGAP|BC000022|A/G|non-coding||2178|Validated; 2475930|CGAP|BC028385|A/G|non-coding||3018|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGA - InFrameDeletion p.K232delK c.693_695delGAA 22 22039174 LUAD A G Missense p.Y128C c.383A>G 22 22035675 LUAD A T Missense p.I308F c.922A>T 22 22041956 BRCA A T Missense p.K482M c.1445A>T 22 22049338 HNSC A T Synonymous p.T200T c.600A>T 22 22039088 LUSC C A Missense p.P335H c.1004C>A 22 22042378 GBM C A Synonymous p.R205R c.613C>A 22 22039101 CM C G Missense p.L44V c.130C>G 22 22025287 CM C T Missense p.R35C c.103C>T 22 22024875 CM C T Missense p.R363C c.1087C>T 22 22043086 CM C T Missense p.S170F c.509C>T 22 22037502 NSCLC C T Missense p.T121M c.362C>T 22 22035654 PIA C T Synonymous p.A138A c.414C>T 22 22036752 OV C T Synonymous p.A441A c.1323C>T 22 22049097 UCEC C T Synonymous p.D352D c.1056C>T 22 22043055 UCEC C T Synonymous p.F434F c.1302C>T 22 22049076 CM C T Synonymous p.I156I c.468C>T 22 22036806 CM G A IntronicSNV . c.128+76G>A 22 22024976 CM G A IntronicSNV . c.129-110G>A 22 22025176 CM G A Missense p.A248T c.742G>A 22 22040799 CM G A Missense p.R35H c.104G>A 22 22024876 RCCC G A SpliceAcceptorSNV . c.296-1G>A 22 22035587 STAD G A Synonymous p.P193P c.579G>A 22 22039067 OV G T Missense p.G362C c.1084G>T 22 22043083 SCLC T C Missense p.C504R c.1510T>C 22 22049730 BRCA TG - IntronicDeletion . c.82+285_82+286delGT 22 22024535 CLL T G Missense p.I445S c.1334T>G 22 22049227 CLL