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 40343156 40343156 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr22:40343156G>A c.46G>A c.(46-48)Gaa>Aaa p.E16K BLCA 22 40343185 40343185 + Missense_Mutation SNP G G C TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr22:40343185G>C c.75G>C c.(73-75)ttG>ttC p.L25F BLCA 22 40364209 40364209 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr22:40364209C>T c.623C>T c.(622-624)gCc>gTc p.A208V BRCA 22 40351888 40351888 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr22:40351888G>C c.144G>C c.(142-144)aaG>aaC p.K48N BRCA 22 40364072 40364072 + Silent SNP G G C TCGA-OL-A5RW-01A-11D-A28B-09 TCGA-OL-A5RW-10A-01D-A28E-09 g.chr22:40364072G>C c.486G>C c.(484-486)cgG>cgC p.R162R BRCA 22 40366922 40366922 + Missense_Mutation SNP C C G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 g.chr22:40366922C>G c.827C>G c.(826-828)gCc>gGc p.A276G COAD 22 40356095 40356095 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr22:40356095G>T c.207G>T c.(205-207)gaG>gaT p.E69D COAD 22 40356095 40356095 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:40356095G>A c.207G>A c.(205-207)gaG>gaA p.E69E COAD 22 40364136 40364136 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr22:40364136C>T c.550C>T c.(550-552)Cgg>Tgg p.R184W COAD 22 40366958 40366958 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr22:40366958A>G c.863A>G c.(862-864)gAc>gGc p.D288G COADREAD 22 40351888 40351888 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:40351888G>T c.144G>T c.(142-144)aaG>aaT p.K48N COADREAD 22 40356095 40356095 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr22:40356095G>T c.207G>T c.(205-207)gaG>gaT p.E69D COADREAD 22 40356095 40356095 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:40356095G>T c.207G>T c.(205-207)gaG>gaT p.E69D COADREAD 22 40356095 40356095 + Silent SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:40356095G>A c.207G>A c.(205-207)gaG>gaA p.E69E COADREAD 22 40362101 40362101 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:40362101G>T c.398G>T c.(397-399)aGg>aTg p.R133M COADREAD 22 40364136 40364136 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr22:40364136C>T c.550C>T c.(550-552)Cgg>Tgg p.R184W COADREAD 22 40366958 40366958 + Missense_Mutation SNP A A G TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr22:40366958A>G c.863A>G c.(862-864)gAc>gGc p.D288G COADREAD 22 40367005 40367005 + Missense_Mutation SNP T T C TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr22:40367005T>C c.910T>C c.(910-912)Tcc>Ccc p.S304P DLBC 22 40366924 40366924 + Missense_Mutation SNP C C T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr22:40366924C>T c.829C>T c.(829-831)Cgg>Tgg p.R277W ESCA 22 40356069 40356069 + Nonsense_Mutation SNP G G T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr22:40356069G>T c.181G>T c.(181-183)Gaa>Taa p.E61* ESCA 22 40362100 40362100 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 g.chr22:40362100A>G c.397A>G c.(397-399)Agg>Ggg p.R133G ESCA 22 40365485 40365485 + Missense_Mutation SNP C C A TCGA-LN-A49M-01A-21D-A27G-09 TCGA-LN-A49M-10A-01D-A27G-09 g.chr22:40365485C>A c.761C>A c.(760-762)gCg>gAg p.A254E ESCA 22 40365485 40365485 + Missense_Mutation SNP C C T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 g.chr22:40365485C>T c.761C>T c.(760-762)gCg>gTg p.A254V GBM 22 40364194 40364194 + Missense_Mutation SNP A A C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr22:40364194A>C c.608A>C c.(607-609)cAg>cCg p.Q203P GBMLGG 22 40343126 40343126 + Missense_Mutation SNP A A G TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 g.chr22:40343126A>G c.16A>G c.(16-18)Aag>Gag p.K6E GBMLGG 22 40364194 40364194 + Missense_Mutation SNP A A C TCGA-41-2575-01A-01D-1495-08 TCGA-41-2575-10A-01D-1495-08 g.chr22:40364194A>C c.608A>C c.(607-609)cAg>cCg p.Q203P HNSC 22 40364132 40364132 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr22:40364132G>T c.546G>T c.(544-546)atG>atT p.M182I HNSC 22 40364245 40364245 + Missense_Mutation SNP A A T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 g.chr22:40364245A>T c.659A>T c.(658-660)cAg>cTg p.Q220L HNSC 22 40365485 40365485 + Missense_Mutation SNP C C T TCGA-QK-A8ZB-01A-11D-A391-08 TCGA-QK-A8ZB-10A-01D-A394-08 g.chr22:40365485C>T c.761C>T c.(760-762)gCg>gTg p.A254V KIPAN 22 40343157 40343157 + Missense_Mutation SNP A A T TCGA-B0-5085-01A-01D-1462-08 TCGA-B0-5085-11A-01D-1462-08 g.chr22:40343157A>T c.47A>T c.(46-48)gAa>gTa p.E16V KIRC 22 40343157 40343157 + Missense_Mutation SNP A A T TCGA-B0-5085-01A-01D-1462-08 TCGA-B0-5085-11A-01D-1462-08 g.chr22:40343157A>T c.47A>T c.(46-48)gAa>gTa p.E16V LGG 22 40343126 40343126 + Missense_Mutation SNP A A G TCGA-TM-A84S-01A-11D-A36O-08 TCGA-TM-A84S-10A-01D-A367-08 g.chr22:40343126A>G c.16A>G c.(16-18)Aag>Gag p.K6E LIHC 22 40343142 40343142 + Missense_Mutation SNP C C A TCGA-DD-A114-01A-11D-A12Z-10 TCGA-DD-A114-10A-01D-A12Z-10 g.chr22:40343142C>A c.32C>A c.(31-33)gCt>gAt p.A11D LIHC 22 40351828 40351828 + Missense_Mutation SNP A A T TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr22:40351828A>T c.84A>T c.(82-84)ttA>ttT p.L28F LIHC 22 40366916 40366916 + Missense_Mutation SNP G G A TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr22:40366916G>A c.821G>A c.(820-822)cGg>cAg p.R274Q LUAD 22 40351868 40351868 + Missense_Mutation SNP C C A TCGA-17-Z055-01A-01W-0747-08 TCGA-17-Z055-11A-01W-0747-08 g.chr22:40351868C>A c.124C>A c.(124-126)Cag>Aag p.Q42K LUAD 22 40356103 40356103 + Missense_Mutation SNP T T A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr22:40356103T>A c.215T>A c.(214-216)cTc>cAc p.L72H LUAD 22 40356136 40356136 + Missense_Mutation SNP G G T TCGA-55-6972-01A-11D-1945-08 TCGA-55-6972-11A-01D-1945-08 g.chr22:40356136G>T c.248G>T c.(247-249)cGg>cTg p.R83L LUAD 22 40362076 40362076 + Missense_Mutation SNP C C A TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr22:40362076C>A c.373C>A c.(373-375)Cta>Ata p.L125I LUAD 22 40362110 40362110 + Missense_Mutation SNP C C A TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr22:40362110C>A c.407C>A c.(406-408)tCc>tAc p.S136Y LUAD 22 40364053 40364053 + Missense_Mutation SNP G G T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr22:40364053G>T c.467G>T c.(466-468)cGg>cTg p.R156L LUAD 22 40364155 40364155 + Missense_Mutation SNP C C G TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr22:40364155C>G c.569C>G c.(568-570)cCc>cGc p.P190R LUAD 22 40364276 40364276 + Splice_Site SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr22:40364276G>C c.690G>C c.(688-690)caG>caC p.Q230H LUAD 22 40365424 40365424 + Nonsense_Mutation SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr22:40365424G>T c.700G>T c.(700-702)Gga>Tga p.G234* LUAD 22 40365465 40365465 + Silent SNP C C A TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr22:40365465C>A c.741C>A c.(739-741)ggC>ggA p.G247G LUAD 22 40366981 40366981 + Nonsense_Mutation SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr22:40366981G>T c.886G>T c.(886-888)Gag>Tag p.E296* LUAD 22 40367030 40367030 + Missense_Mutation SNP G G A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr22:40367030G>A c.935G>A c.(934-936)cGc>cAc p.R312H LUAD 22 40367050 40367050 + Missense_Mutation SNP C C T TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr22:40367050C>T c.955C>T c.(955-957)Ctc>Ttc p.L319F LUAD 22 40367056 40367056 + Missense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr22:40367056C>G c.961C>G c.(961-963)Cct>Gct p.P321A LUSC 22 40367029 40367029 + Missense_Mutation SNP C C A TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr22:40367029C>A c.934C>A c.(934-936)Cgc>Agc p.R312S PAAD 22 40367030 40367030 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:40367030G>A c.935G>A c.(934-936)cGc>cAc p.R312H PAAD 22 40367084 40367084 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:40367084G>A c.989G>A c.(988-990)cGa>cAa p.R330Q PRAD 22 40365471 40365471 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr22:40365471C>T c.747C>T c.(745-747)ggC>ggT p.G249G PRAD 22 40366977 40366977 + Silent SNP C C T TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 g.chr22:40366977C>T c.882C>T c.(880-882)agC>agT p.S294S READ 22 40351888 40351888 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:40351888G>T c.144G>T c.(142-144)aaG>aaT p.K48N READ 22 40356095 40356095 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:40356095G>T c.207G>T c.(205-207)gaG>gaT p.E69D READ 22 40362101 40362101 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:40362101G>T c.398G>T c.(397-399)aGg>aTg p.R133M READ 22 40367005 40367005 + Missense_Mutation SNP T T C TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr22:40367005T>C c.910T>C c.(910-912)Tcc>Ccc p.S304P SARC 22 40351885 40351885 + Silent SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 g.chr22:40351885C>T c.141C>T c.(139-141)ccC>ccT p.P47P SARC 22 40362092 40362092 + Missense_Mutation SNP A A T TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 g.chr22:40362092A>T c.389A>T c.(388-390)gAc>gTc p.D130V SARC 22 40364152 40364153 + Frame_Shift_Ins INS - - C TCGA-DX-A3UD-01A-11D-A307-09 TCGA-DX-A3UD-10A-01D-A307-09 g.chr22:40364152_40364153insC c.566_567insC c.(565-570)caccccfs p.HP189fs SKCM 22 40351840 40351840 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr22:40351840G>A c.96G>A c.(94-96)gaG>gaA p.E32E SKCM 22 40351847 40351847 + Missense_Mutation SNP T T C TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr22:40351847T>C c.103T>C c.(103-105)Ttt>Ctt p.F35L SKCM 22 40356158 40356158 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr22:40356158G>A c.270G>A c.(268-270)ggG>ggA p.G90G SKCM 22 40362043 40362043 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:40362043A>G c.340A>G c.(340-342)Aat>Gat p.N114D SKCM 22 40362074 40362074 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr22:40362074C>T c.371C>T c.(370-372)tCc>tTc p.S124F SKCM 22 40364204 40364204 + Missense_Mutation SNP A A C TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr22:40364204A>C c.618A>C c.(616-618)caA>caC p.Q206H SKCM 22 40365475 40365475 + Missense_Mutation SNP G G C TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr22:40365475G>C c.751G>C c.(751-753)Gaa>Caa p.E251Q SKCM 22 40366957 40366957 + Missense_Mutation SNP G G T TCGA-EB-A5SG-06A-11D-A30X-08 TCGA-EB-A5SG-10A-01D-A30X-08 g.chr22:40366957G>T c.862G>T c.(862-864)Gac>Tac p.D288Y SKCM 22 40367082 40367082 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr22:40367082C>T c.987C>T c.(985-987)acC>acT p.T329T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 22 40343156 40343156 single base substitution G A 5_prime_UTR_variant BLCA-US 22 40343156 40343156 single base substitution G A exon_variant BLCA-US 22 40343156 40343156 single base substitution G A intron_variant BLCA-US 22 40343156 40343156 single base substitution G A missense_variant E16K 46G>A BLCA-US 22 40343185 40343185 single base substitution G C 5_prime_UTR_variant BLCA-US 22 40343185 40343185 single base substitution G C exon_variant BLCA-US 22 40343185 40343185 single base substitution G C intron_variant BLCA-US 22 40343185 40343185 single base substitution G C missense_variant L25F 75G>C BOCA-FR 22 40297118 40297118 single base substitution A T 5_prime_UTR_variant BOCA-FR 22 40308805 40308805 single base substitution G T intron_variant BOCA-FR 22 40351710 40351710 single base substitution T C intron_variant BRCA-EU 22 40292240 40292240 single base substitution C A upstream_gene_variant BRCA-EU 22 40295647 40295647 single base substitution A G upstream_gene_variant BRCA-EU 22 40296399 40296399 single base substitution A T upstream_gene_variant BRCA-EU 22 40297941 40297941 single base substitution G C intron_variant BRCA-EU 22 40298799 40298799 single base substitution C G intron_variant BRCA-EU 22 40299665 40299665 single base substitution G A intron_variant BRCA-EU 22 40300156 40300156 single base substitution G A intron_variant BRCA-EU 22 40301195 40301195 single base substitution T A intron_variant BRCA-EU 22 40301898 40301898 single base substitution G A intron_variant BRCA-EU 22 40302924 40302924 single base substitution G A intron_variant BRCA-EU 22 40303617 40303617 single base substitution G A intron_variant BRCA-EU 22 40304139 40304139 single base substitution G C intron_variant BRCA-EU 22 40305397 40305397 single base substitution G A intron_variant BRCA-EU 22 40306983 40306983 single base substitution G A intron_variant BRCA-EU 22 40307718 40307718 single base substitution T A intron_variant BRCA-EU 22 40307858 40307858 single base substitution A T intron_variant BRCA-EU 22 40308899 40308899 single base substitution G C intron_variant BRCA-EU 22 40310050 40310050 single base substitution G A intron_variant BRCA-EU 22 40310394 40310407 deletion of <=200bp AATGGGATAGCTCT - intron_variant BRCA-EU 22 40311720 40311720 single base substitution T A intron_variant BRCA-EU 22 40312069 40312069 single base substitution C T intron_variant BRCA-EU 22 40312566 40312566 single base substitution G C intron_variant BRCA-EU 22 40312948 40312950 deletion of <=200bp ATT - intron_variant BRCA-EU 22 40313738 40313738 single base substitution G C intron_variant BRCA-EU 22 40313764 40313764 single base substitution C G intron_variant BRCA-EU 22 40317101 40317101 single base substitution G C intron_variant BRCA-EU 22 40318117 40318117 single base substitution A T intron_variant BRCA-EU 22 40318117 40318117 single base substitution A T upstream_gene_variant BRCA-EU 22 40318507 40318507 single base substitution G T intron_variant BRCA-EU 22 40318507 40318507 single base substitution G T upstream_gene_variant BRCA-EU 22 40320020 40320020 single base substitution G A intron_variant BRCA-EU 22 40320020 40320020 single base substitution G A upstream_gene_variant BRCA-EU 22 40322682 40322682 single base substitution T C 5_prime_UTR_variant BRCA-EU 22 40322682 40322682 single base substitution T C exon_variant BRCA-EU 22 40322682 40322682 single base substitution T C intron_variant BRCA-EU 22 40324702 40324702 single base substitution G A intron_variant BRCA-EU 22 40324821 40324821 single base substitution G T intron_variant BRCA-EU 22 40325380 40325380 single base substitution C T intron_variant BRCA-EU 22 40325381 40325381 single base substitution C T intron_variant BRCA-EU 22 40325599 40325599 single base substitution C T intron_variant BRCA-EU 22 40325916 40325916 single base substitution C A intron_variant BRCA-EU 22 40326338 40326338 single base substitution G C intron_variant BRCA-EU 22 40326347 40326347 single base substitution C A intron_variant BRCA-EU 22 40327046 40327046 single base substitution G A intron_variant BRCA-EU 22 40327113 40327113 single base substitution C G intron_variant BRCA-EU 22 40329688 40329688 single base substitution T C intron_variant BRCA-EU 22 40329772 40329772 single base substitution G T intron_variant BRCA-EU 22 40330163 40330163 single base substitution A C intron_variant BRCA-EU 22 40330818 40330818 single base substitution T C intron_variant BRCA-EU 22 40331699 40331699 single base substitution G C intron_variant BRCA-EU 22 40332333 40332333 single base substitution A T intron_variant BRCA-EU 22 40332924 40332924 single base substitution G C intron_variant BRCA-EU 22 40336549 40336549 single base substitution C A intron_variant BRCA-EU 22 40337369 40337369 single base substitution C T intron_variant BRCA-EU 22 40337620 40337620 single base substitution T A intron_variant BRCA-EU 22 40338834 40338834 single base substitution C A intron_variant BRCA-EU 22 40338834 40338834 single base substitution C A upstream_gene_variant BRCA-EU 22 40340099 40340099 single base substitution C G intron_variant BRCA-EU 22 40340099 40340099 single base substitution C G upstream_gene_variant BRCA-EU 22 40340486 40340486 single base substitution G C intron_variant BRCA-EU 22 40340486 40340486 single base substitution G C upstream_gene_variant BRCA-EU 22 40341115 40341115 single base substitution G A intron_variant BRCA-EU 22 40341115 40341115 single base substitution G A upstream_gene_variant BRCA-EU 22 40341190 40341190 single base substitution G C intron_variant BRCA-EU 22 40341190 40341190 single base substitution G C upstream_gene_variant BRCA-EU 22 40343075 40343075 single base substitution G A 5_prime_UTR_variant BRCA-EU 22 40343075 40343075 single base substitution G A intron_variant BRCA-EU 22 40344968 40344968 single base substitution G T downstream_gene_variant BRCA-EU 22 40344968 40344968 single base substitution G T intron_variant BRCA-EU 22 40345170 40345170 single base substitution C T downstream_gene_variant BRCA-EU 22 40345170 40345170 single base substitution C T intron_variant BRCA-EU 22 40345905 40345905 single base substitution C G downstream_gene_variant BRCA-EU 22 40345905 40345905 single base substitution C G intron_variant BRCA-EU 22 40347815 40347815 single base substitution T A downstream_gene_variant BRCA-EU 22 40347815 40347815 single base substitution T A intron_variant BRCA-EU 22 40349856 40349856 single base substitution G A intron_variant BRCA-EU 22 40349940 40349940 single base substitution C T intron_variant BRCA-EU 22 40350006 40350006 single base substitution T C intron_variant BRCA-EU 22 40350410 40350410 single base substitution T A intron_variant BRCA-EU 22 40350972 40350972 single base substitution C G intron_variant BRCA-EU 22 40354225 40354225 single base substitution C G intron_variant BRCA-EU 22 40354643 40354643 single base substitution A C intron_variant BRCA-EU 22 40355106 40355106 single base substitution T A intron_variant BRCA-EU 22 40359327 40359327 insertion of <=200bp - G downstream_gene_variant BRCA-EU 22 40359327 40359327 insertion of <=200bp - G intron_variant BRCA-EU 22 40359327 40359327 insertion of <=200bp - G upstream_gene_variant BRCA-EU 22 40361309 40361309 single base substitution G A intron_variant BRCA-EU 22 40361309 40361309 single base substitution G A upstream_gene_variant BRCA-EU 22 40361760 40361760 single base substitution G A intron_variant BRCA-EU 22 40361760 40361760 single base substitution G A upstream_gene_variant BRCA-EU 22 40361791 40361791 single base substitution G C intron_variant BRCA-EU 22 40361791 40361791 single base substitution G C upstream_gene_variant BRCA-EU 22 40361807 40361835 deletion of <=200bp AAGTGGTCCATCCTACAAAGTTCCTGCCG - intron_variant BRCA-EU 22 40361807 40361835 deletion of <=200bp AAGTGGTCCATCCTACAAAGTTCCTGCCG - upstream_gene_variant BRCA-EU 22 40362602 40362602 single base substitution G A downstream_gene_variant BRCA-EU 22 40362602 40362602 single base substitution G A intron_variant BRCA-EU 22 40362602 40362602 single base substitution G A upstream_gene_variant BRCA-EU 22 40362716 40362716 single base substitution T C downstream_gene_variant BRCA-EU 22 40362716 40362716 single base substitution T C intron_variant BRCA-EU 22 40362716 40362716 single base substitution T C upstream_gene_variant BRCA-EU 22 40363292 40363292 single base substitution A C downstream_gene_variant BRCA-EU 22 40363292 40363292 single base substitution A C intron_variant BRCA-EU 22 40363292 40363292 single base substitution A C upstream_gene_variant BRCA-EU 22 40363895 40363895 single base substitution A G downstream_gene_variant BRCA-EU 22 40363895 40363895 single base substitution A G intron_variant BRCA-EU 22 40363895 40363895 single base substitution A G upstream_gene_variant BRCA-EU 22 40364421 40364421 single base substitution C T downstream_gene_variant BRCA-EU 22 40364421 40364421 single base substitution C T exon_variant BRCA-EU 22 40364421 40364421 single base substitution C T intron_variant BRCA-EU 22 40364421 40364421 single base substitution C T upstream_gene_variant BRCA-EU 22 40364697 40364697 single base substitution G A downstream_gene_variant BRCA-EU 22 40364697 40364697 single base substitution G A exon_variant BRCA-EU 22 40364697 40364697 single base substitution G A intron_variant BRCA-EU 22 40364697 40364697 single base substitution G A upstream_gene_variant BRCA-EU 22 40365145 40365145 single base substitution T G downstream_gene_variant BRCA-EU 22 40365145 40365145 single base substitution T G intron_variant BRCA-EU 22 40365145 40365145 single base substitution T G upstream_gene_variant BRCA-EU 22 40365227 40365227 single base substitution C A downstream_gene_variant BRCA-EU 22 40365227 40365227 single base substitution C A intron_variant BRCA-EU 22 40365227 40365227 single base substitution C A upstream_gene_variant BRCA-EU 22 40366352 40366352 single base substitution T C downstream_gene_variant BRCA-EU 22 40366352 40366352 single base substitution T C intron_variant BRCA-EU 22 40368810 40368810 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 40368810 40368810 single base substitution G A downstream_gene_variant BRCA-EU 22 40369687 40369687 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 40369687 40369687 single base substitution G A downstream_gene_variant BRCA-EU 22 40369911 40369911 single base substitution G A downstream_gene_variant BRCA-EU 22 40371037 40371037 single base substitution C T downstream_gene_variant BRCA-EU 22 40371192 40371192 single base substitution G C downstream_gene_variant BRCA-EU 22 40371653 40371653 deletion of <=200bp G - downstream_gene_variant BRCA-EU 22 40371937 40371937 single base substitution G C downstream_gene_variant BRCA-EU 22 40373365 40373365 single base substitution C T downstream_gene_variant BRCA-EU 22 40373857 40373857 single base substitution G C downstream_gene_variant BRCA-EU 22 40374055 40374055 deletion of <=200bp G - downstream_gene_variant BRCA-EU 22 40374084 40374084 insertion of <=200bp - A downstream_gene_variant BRCA-EU 22 40374100 40374100 single base substitution A G downstream_gene_variant BRCA-FR 22 40302924 40302924 single base substitution G A intron_variant BRCA-FR 22 40306983 40306983 single base substitution G A intron_variant BRCA-FR 22 40308899 40308899 single base substitution G C intron_variant BRCA-FR 22 40310050 40310050 single base substitution G A intron_variant BRCA-FR 22 40311867 40311867 single base substitution G A intron_variant BRCA-FR 22 40312069 40312069 single base substitution C T intron_variant BRCA-FR 22 40323287 40323287 single base substitution G C intron_variant BRCA-FR 22 40338538 40338538 single base substitution C A intron_variant BRCA-FR 22 40338538 40338538 single base substitution C A upstream_gene_variant BRCA-FR 22 40345905 40345905 single base substitution C G downstream_gene_variant BRCA-FR 22 40345905 40345905 single base substitution C G intron_variant BRCA-FR 22 40354225 40354225 single base substitution C G intron_variant BRCA-FR 22 40356606 40356606 single base substitution G A downstream_gene_variant BRCA-FR 22 40356606 40356606 single base substitution G A intron_variant BRCA-FR 22 40361760 40361760 single base substitution G A intron_variant BRCA-FR 22 40361760 40361760 single base substitution G A upstream_gene_variant BRCA-FR 22 40362602 40362602 single base substitution G A downstream_gene_variant BRCA-FR 22 40362602 40362602 single base substitution G A intron_variant BRCA-FR 22 40362602 40362602 single base substitution G A upstream_gene_variant BRCA-FR 22 40363292 40363292 single base substitution A C downstream_gene_variant BRCA-FR 22 40363292 40363292 single base substitution A C intron_variant BRCA-FR 22 40363292 40363292 single base substitution A C upstream_gene_variant BRCA-FR 22 40373857 40373857 single base substitution G C downstream_gene_variant BRCA-UK 22 40292240 40292240 single base substitution C A upstream_gene_variant BRCA-UK 22 40365145 40365145 single base substitution T G downstream_gene_variant BRCA-UK 22 40365145 40365145 single base substitution T G intron_variant BRCA-UK 22 40365145 40365145 single base substitution T G upstream_gene_variant BRCA-UK 22 40371653 40371653 deletion of <=200bp G - downstream_gene_variant BRCA-US 22 40351888 40351888 single base substitution G C exon_variant BRCA-US 22 40351888 40351888 single base substitution G C intron_variant BRCA-US 22 40351888 40351888 single base substitution G C missense_variant K48N 144G>C BRCA-US 22 40364072 40364072 single base substitution G C downstream_gene_variant BRCA-US 22 40364072 40364072 single base substitution G C exon_variant BRCA-US 22 40364072 40364072 single base substitution G C synonymous_variant R122R 366G>C BRCA-US 22 40364072 40364072 single base substitution G C synonymous_variant R162R 486G>C BRCA-US 22 40364072 40364072 single base substitution G C synonymous_variant R49R 147G>C BRCA-US 22 40364072 40364072 single base substitution G C synonymous_variant R90R 270G>C BRCA-US 22 40364072 40364072 single base substitution G C synonymous_variant R96R 288G>C BRCA-US 22 40364072 40364072 single base substitution G C upstream_gene_variant BRCA-US 22 40366922 40366922 single base substitution C G downstream_gene_variant BRCA-US 22 40366922 40366922 single base substitution C G exon_variant BRCA-US 22 40366922 40366922 single base substitution C G missense_variant A163G 488C>G BRCA-US 22 40366922 40366922 single base substitution C G missense_variant A204G 611C>G BRCA-US 22 40366922 40366922 single base substitution C G missense_variant A210G 629C>G BRCA-US 22 40366922 40366922 single base substitution C G missense_variant A236G 707C>G BRCA-US 22 40366922 40366922 single base substitution C G missense_variant A276G 827C>G CLLE-ES 22 40314135 40314135 single base substitution G A intron_variant CLLE-ES 22 40317210 40317210 single base substitution C A intron_variant CLLE-ES 22 40364926 40364926 single base substitution C T downstream_gene_variant CLLE-ES 22 40364926 40364926 single base substitution C T intron_variant CLLE-ES 22 40364926 40364926 single base substitution C T upstream_gene_variant CLLE-ES 22 40367781 40367781 single base substitution G A 3_prime_UTR_variant CLLE-ES 22 40367781 40367781 single base substitution G A downstream_gene_variant COAD-US 22 40356095 40356095 single base substitution G A 5_prime_UTR_variant COAD-US 22 40356095 40356095 single base substitution G A exon_variant COAD-US 22 40356095 40356095 single base substitution G A intron_variant COAD-US 22 40356095 40356095 single base substitution G A missense_variant E13K 37G>A COAD-US 22 40356095 40356095 single base substitution G A synonymous_variant E69E 207G>A COCA-CN 22 40364211 40364211 single base substitution C A downstream_gene_variant COCA-CN 22 40364211 40364211 single base substitution C A exon_variant COCA-CN 22 40364211 40364211 single base substitution C A missense_variant P137T 409C>A COCA-CN 22 40364211 40364211 single base substitution C A missense_variant P143T 427C>A COCA-CN 22 40364211 40364211 single base substitution C A missense_variant P169T 505C>A COCA-CN 22 40364211 40364211 single base substitution C A missense_variant P209T 625C>A COCA-CN 22 40364211 40364211 single base substitution C A missense_variant P96T 286C>A COCA-CN 22 40364211 40364211 single base substitution C A upstream_gene_variant COCA-CN 22 40364394 40364394 single base substitution C G downstream_gene_variant COCA-CN 22 40364394 40364394 single base substitution C G exon_variant COCA-CN 22 40364394 40364394 single base substitution C G intron_variant COCA-CN 22 40364394 40364394 single base substitution C G upstream_gene_variant ESAD-UK 22 40294518 40294518 single base substitution C A upstream_gene_variant ESAD-UK 22 40294773 40294773 single base substitution C T upstream_gene_variant ESAD-UK 22 40294818 40294818 insertion of <=200bp - A upstream_gene_variant ESAD-UK 22 40300839 40300839 single base substitution G A intron_variant ESAD-UK 22 40300976 40300976 single base substitution G C intron_variant ESAD-UK 22 40302092 40302092 deletion of <=200bp A - intron_variant ESAD-UK 22 40302279 40302279 single base substitution G T intron_variant ESAD-UK 22 40305566 40305566 single base substitution G A intron_variant ESAD-UK 22 40307822 40307822 single base substitution G A intron_variant ESAD-UK 22 40307872 40307872 single base substitution A G intron_variant ESAD-UK 22 40310078 40310078 single base substitution C T intron_variant ESAD-UK 22 40310707 40310707 single base substitution G A intron_variant ESAD-UK 22 40310920 40310920 single base substitution C T intron_variant ESAD-UK 22 40312654 40312654 single base substitution T C intron_variant ESAD-UK 22 40313053 40313053 single base substitution G T intron_variant ESAD-UK 22 40313162 40313162 single base substitution G C intron_variant ESAD-UK 22 40314390 40314410 deletion of <=200bp ATTGGGCCCTAAATGATTGGA - intron_variant ESAD-UK 22 40316743 40316743 single base substitution G A intron_variant ESAD-UK 22 40317096 40317096 single base substitution T G intron_variant ESAD-UK 22 40318830 40318830 single base substitution T G intron_variant ESAD-UK 22 40318830 40318830 single base substitution T G upstream_gene_variant ESAD-UK 22 40322184 40322184 single base substitution C G intron_variant ESAD-UK 22 40322184 40322184 single base substitution C G upstream_gene_variant ESAD-UK 22 40323163 40323163 single base substitution G A intron_variant ESAD-UK 22 40324037 40324037 single base substitution G A intron_variant ESAD-UK 22 40329582 40329582 single base substitution C T intron_variant ESAD-UK 22 40330041 40330041 single base substitution G A intron_variant ESAD-UK 22 40330831 40330831 single base substitution C T intron_variant ESAD-UK 22 40332262 40332262 deletion of <=200bp G - intron_variant ESAD-UK 22 40333421 40333421 single base substitution T C intron_variant ESAD-UK 22 40334620 40334620 single base substitution G A intron_variant ESAD-UK 22 40336157 40336157 single base substitution G C intron_variant ESAD-UK 22 40342711 40342711 single base substitution T A intron_variant ESAD-UK 22 40342711 40342711 single base substitution T A upstream_gene_variant ESAD-UK 22 40347815 40347815 single base substitution T A downstream_gene_variant ESAD-UK 22 40347815 40347815 single base substitution T A intron_variant ESAD-UK 22 40349815 40349815 single base substitution G A intron_variant ESAD-UK 22 40350678 40350678 single base substitution C T intron_variant ESAD-UK 22 40353801 40353801 single base substitution G A intron_variant ESAD-UK 22 40354254 40354254 single base substitution C G intron_variant ESAD-UK 22 40354790 40354790 single base substitution C T intron_variant ESAD-UK 22 40358118 40358118 single base substitution G A downstream_gene_variant ESAD-UK 22 40358118 40358118 single base substitution G A intron_variant ESAD-UK 22 40358118 40358118 single base substitution G A upstream_gene_variant ESAD-UK 22 40358677 40358677 single base substitution T A downstream_gene_variant ESAD-UK 22 40358677 40358677 single base substitution T A intron_variant ESAD-UK 22 40358677 40358677 single base substitution T A upstream_gene_variant ESAD-UK 22 40358851 40358851 single base substitution T C downstream_gene_variant ESAD-UK 22 40358851 40358851 single base substitution T C intron_variant ESAD-UK 22 40358851 40358851 single base substitution T C upstream_gene_variant ESAD-UK 22 40359188 40359188 single base substitution T C downstream_gene_variant ESAD-UK 22 40359188 40359188 single base substitution T C intron_variant ESAD-UK 22 40359188 40359188 single base substitution T C upstream_gene_variant ESAD-UK 22 40360551 40360551 single base substitution T A downstream_gene_variant ESAD-UK 22 40360551 40360551 single base substitution T A intron_variant ESAD-UK 22 40360551 40360551 single base substitution T A upstream_gene_variant ESAD-UK 22 40361751 40361751 single base substitution A T intron_variant ESAD-UK 22 40361751 40361751 single base substitution A T upstream_gene_variant ESAD-UK 22 40362006 40362006 single base substitution C T exon_variant ESAD-UK 22 40362006 40362006 single base substitution C T intron_variant ESAD-UK 22 40362006 40362006 single base substitution C T synonymous_variant D101D 303C>T ESAD-UK 22 40362006 40362006 single base substitution C T synonymous_variant D29D 87C>T ESAD-UK 22 40362006 40362006 single base substitution C T synonymous_variant D35D 105C>T ESAD-UK 22 40362006 40362006 single base substitution C T synonymous_variant D61D 183C>T ESAD-UK 22 40362006 40362006 single base substitution C T upstream_gene_variant ESAD-UK 22 40363560 40363560 single base substitution C T downstream_gene_variant ESAD-UK 22 40363560 40363560 single base substitution C T intron_variant ESAD-UK 22 40363560 40363560 single base substitution C T upstream_gene_variant ESAD-UK 22 40370688 40370688 deletion of <=200bp A - downstream_gene_variant ESAD-UK 22 40370862 40370862 single base substitution C T downstream_gene_variant ESAD-UK 22 40371325 40371325 single base substitution T C downstream_gene_variant ESAD-UK 22 40371533 40371533 single base substitution G A downstream_gene_variant ESAD-UK 22 40372815 40372815 single base substitution T G downstream_gene_variant ESAD-UK 22 40373510 40373510 single base substitution T A downstream_gene_variant ESAD-UK 22 40373916 40373916 single base substitution C T downstream_gene_variant ESCA-CN 22 40356081 40356081 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 22 40356081 40356081 single base substitution C T exon_variant ESCA-CN 22 40356081 40356081 single base substitution C T intron_variant ESCA-CN 22 40356081 40356081 single base substitution C T missense_variant S8L 23C>T ESCA-CN 22 40356081 40356081 single base substitution C T stop_gained R65* 193C>T ESCA-CN 22 40364463 40364464 deletion of <=200bp AC - downstream_gene_variant ESCA-CN 22 40364463 40364464 deletion of <=200bp AC - exon_variant ESCA-CN 22 40364463 40364464 deletion of <=200bp AC - intron_variant ESCA-CN 22 40364463 40364464 deletion of <=200bp AC - upstream_gene_variant GBM-US 22 40364194 40364194 single base substitution A C downstream_gene_variant GBM-US 22 40364194 40364194 single base substitution A C exon_variant GBM-US 22 40364194 40364194 single base substitution A C missense_variant Q131P 392A>C GBM-US 22 40364194 40364194 single base substitution A C missense_variant Q137P 410A>C GBM-US 22 40364194 40364194 single base substitution A C missense_variant Q163P 488A>C GBM-US 22 40364194 40364194 single base substitution A C missense_variant Q203P 608A>C GBM-US 22 40364194 40364194 single base substitution A C missense_variant Q90P 269A>C GBM-US 22 40364194 40364194 single base substitution A C upstream_gene_variant KIRC-US 22 40343157 40343157 single base substitution A T 5_prime_UTR_variant KIRC-US 22 40343157 40343157 single base substitution A T exon_variant KIRC-US 22 40343157 40343157 single base substitution A T intron_variant KIRC-US 22 40343157 40343157 single base substitution A T missense_variant E16V 47A>T KIRP-US 22 40367067 40367067 single base substitution C T downstream_gene_variant KIRP-US 22 40367067 40367067 single base substitution C T exon_variant KIRP-US 22 40367067 40367067 single base substitution C T synonymous_variant Y211Y 633C>T KIRP-US 22 40367067 40367067 single base substitution C T synonymous_variant Y252Y 756C>T KIRP-US 22 40367067 40367067 single base substitution C T synonymous_variant Y258Y 774C>T KIRP-US 22 40367067 40367067 single base substitution C T synonymous_variant Y272Y 816C>T KIRP-US 22 40367067 40367067 single base substitution C T synonymous_variant Y324Y 972C>T LAML-KR 22 40364394 40364394 single base substitution C G downstream_gene_variant LAML-KR 22 40364394 40364394 single base substitution C G exon_variant LAML-KR 22 40364394 40364394 single base substitution C G intron_variant LAML-KR 22 40364394 40364394 single base substitution C G upstream_gene_variant LICA-FR 22 40294342 40294342 single base substitution G A upstream_gene_variant LICA-FR 22 40306473 40306473 single base substitution C T intron_variant LICA-FR 22 40329796 40329796 single base substitution G T intron_variant LICA-FR 22 40343662 40343662 single base substitution G T exon_variant LICA-FR 22 40343662 40343662 single base substitution G T intron_variant LICA-FR 22 40346613 40346613 single base substitution T C downstream_gene_variant LICA-FR 22 40346613 40346613 single base substitution T C intron_variant LICA-FR 22 40351591 40351591 single base substitution A G intron_variant LICA-FR 22 40362102 40362102 single base substitution G A exon_variant LICA-FR 22 40362102 40362102 single base substitution G A intron_variant LICA-FR 22 40362102 40362102 single base substitution G A synonymous_variant R133R 399G>A LICA-FR 22 40362102 40362102 single base substitution G A synonymous_variant R61R 183G>A LICA-FR 22 40362102 40362102 single base substitution G A synonymous_variant R67R 201G>A LICA-FR 22 40362102 40362102 single base substitution G A synonymous_variant R93R 279G>A LICA-FR 22 40362102 40362102 single base substitution G A upstream_gene_variant LICA-FR 22 40373230 40373230 single base substitution T C downstream_gene_variant LIHC-US 22 40343142 40343142 single base substitution C A 5_prime_UTR_variant LIHC-US 22 40343142 40343142 single base substitution C A exon_variant LIHC-US 22 40343142 40343142 single base substitution C A intron_variant LIHC-US 22 40343142 40343142 single base substitution C A missense_variant A11D 32C>A LIHC-US 22 40366916 40366916 single base substitution G A downstream_gene_variant LIHC-US 22 40366916 40366916 single base substitution G A exon_variant LIHC-US 22 40366916 40366916 single base substitution G A missense_variant R161Q 482G>A LIHC-US 22 40366916 40366916 single base substitution G A missense_variant R202Q 605G>A LIHC-US 22 40366916 40366916 single base substitution G A missense_variant R208Q 623G>A LIHC-US 22 40366916 40366916 single base substitution G A missense_variant R234Q 701G>A LIHC-US 22 40366916 40366916 single base substitution G A missense_variant R274Q 821G>A LINC-JP 22 40297499 40297499 single base substitution G A intron_variant LINC-JP 22 40307650 40307650 single base substitution T C intron_variant LINC-JP 22 40314922 40314922 single base substitution A C intron_variant LINC-JP 22 40340540 40340540 single base substitution T C intron_variant LINC-JP 22 40340540 40340540 single base substitution T C upstream_gene_variant LINC-JP 22 40344250 40344250 single base substitution A G exon_variant LINC-JP 22 40344250 40344250 single base substitution A G intron_variant LINC-JP 22 40353954 40353954 single base substitution T A intron_variant LINC-JP 22 40354909 40354909 single base substitution A T intron_variant LINC-JP 22 40365776 40365776 single base substitution G A downstream_gene_variant LINC-JP 22 40365776 40365776 single base substitution G A intron_variant LINC-JP 22 40372273 40372273 single base substitution A T downstream_gene_variant LIRI-JP 22 40293060 40293060 single base substitution C T upstream_gene_variant LIRI-JP 22 40293891 40293891 single base substitution C A upstream_gene_variant LIRI-JP 22 40294218 40294218 single base substitution G A upstream_gene_variant LIRI-JP 22 40294443 40294443 single base substitution C T upstream_gene_variant LIRI-JP 22 40294781 40294781 single base substitution T C upstream_gene_variant LIRI-JP 22 40294927 40294927 single base substitution A T upstream_gene_variant LIRI-JP 22 40296397 40296397 single base substitution A G upstream_gene_variant LIRI-JP 22 40301861 40301861 single base substitution A T intron_variant LIRI-JP 22 40302543 40302543 single base substitution A C intron_variant LIRI-JP 22 40305315 40305315 single base substitution C T intron_variant LIRI-JP 22 40306256 40306256 single base substitution G T intron_variant LIRI-JP 22 40307738 40307738 single base substitution T C intron_variant LIRI-JP 22 40310612 40310612 single base substitution T C intron_variant LIRI-JP 22 40311524 40311524 insertion of <=200bp - A intron_variant LIRI-JP 22 40315374 40315374 single base substitution A G intron_variant LIRI-JP 22 40318209 40318209 single base substitution C T intron_variant LIRI-JP 22 40318209 40318209 single base substitution C T upstream_gene_variant LIRI-JP 22 40318570 40318570 single base substitution A G intron_variant LIRI-JP 22 40318570 40318570 single base substitution A G upstream_gene_variant LIRI-JP 22 40321560 40321560 single base substitution C T intron_variant LIRI-JP 22 40321560 40321560 single base substitution C T upstream_gene_variant LIRI-JP 22 40322260 40322260 single base substitution G T intron_variant LIRI-JP 22 40322260 40322260 single base substitution G T upstream_gene_variant LIRI-JP 22 40322714 40322714 single base substitution T C 5_prime_UTR_variant LIRI-JP 22 40322714 40322714 single base substitution T C exon_variant LIRI-JP 22 40322714 40322714 single base substitution T C intron_variant LIRI-JP 22 40323063 40323063 single base substitution T C intron_variant LIRI-JP 22 40323203 40323203 single base substitution C T intron_variant LIRI-JP 22 40325418 40325418 deletion of <=200bp G - intron_variant LIRI-JP 22 40330548 40330548 single base substitution A T intron_variant LIRI-JP 22 40330825 40330825 single base substitution T C intron_variant LIRI-JP 22 40332400 40332400 single base substitution A T intron_variant LIRI-JP 22 40332431 40332431 single base substitution C A intron_variant LIRI-JP 22 40332935 40332935 single base substitution A T intron_variant LIRI-JP 22 40333950 40333950 single base substitution A G intron_variant LIRI-JP 22 40336774 40336774 single base substitution A C intron_variant LIRI-JP 22 40337326 40337326 single base substitution T A intron_variant LIRI-JP 22 40339201 40339201 single base substitution G A intron_variant LIRI-JP 22 40339201 40339201 single base substitution G A upstream_gene_variant LIRI-JP 22 40340809 40340809 single base substitution G A intron_variant LIRI-JP 22 40340809 40340809 single base substitution G A upstream_gene_variant LIRI-JP 22 40341093 40341093 single base substitution T A intron_variant LIRI-JP 22 40341093 40341093 single base substitution T A upstream_gene_variant LIRI-JP 22 40341474 40341474 single base substitution T C intron_variant LIRI-JP 22 40341474 40341474 single base substitution T C upstream_gene_variant LIRI-JP 22 40344606 40344606 single base substitution C T downstream_gene_variant LIRI-JP 22 40344606 40344606 single base substitution C T intron_variant LIRI-JP 22 40344800 40344800 single base substitution C T downstream_gene_variant LIRI-JP 22 40344800 40344800 single base substitution C T intron_variant LIRI-JP 22 40345558 40345558 single base substitution T G downstream_gene_variant LIRI-JP 22 40345558 40345558 single base substitution T G intron_variant LIRI-JP 22 40346202 40346202 single base substitution G T downstream_gene_variant LIRI-JP 22 40346202 40346202 single base substitution G T intron_variant LIRI-JP 22 40346584 40346584 single base substitution G A downstream_gene_variant LIRI-JP 22 40346584 40346584 single base substitution G A intron_variant LIRI-JP 22 40346783 40346783 single base substitution C A downstream_gene_variant LIRI-JP 22 40346783 40346783 single base substitution C A intron_variant LIRI-JP 22 40348883 40348883 single base substitution T A downstream_gene_variant LIRI-JP 22 40348883 40348883 single base substitution T A intron_variant LIRI-JP 22 40351534 40351534 single base substitution G T intron_variant LIRI-JP 22 40353474 40353474 single base substitution G T intron_variant LIRI-JP 22 40354574 40354574 single base substitution C T intron_variant LIRI-JP 22 40356624 40356624 single base substitution A T downstream_gene_variant LIRI-JP 22 40356624 40356624 single base substitution A T intron_variant LIRI-JP 22 40357783 40357783 single base substitution C A downstream_gene_variant LIRI-JP 22 40357783 40357783 single base substitution C A intron_variant LIRI-JP 22 40357783 40357783 single base substitution C A upstream_gene_variant LIRI-JP 22 40357784 40357784 single base substitution G A downstream_gene_variant LIRI-JP 22 40357784 40357784 single base substitution G A intron_variant LIRI-JP 22 40357784 40357784 single base substitution G A upstream_gene_variant LIRI-JP 22 40358503 40358503 single base substitution C T downstream_gene_variant LIRI-JP 22 40358503 40358503 single base substitution C T intron_variant LIRI-JP 22 40358503 40358503 single base substitution C T upstream_gene_variant LIRI-JP 22 40360861 40360861 single base substitution C G downstream_gene_variant LIRI-JP 22 40360861 40360861 single base substitution C G intron_variant LIRI-JP 22 40360861 40360861 single base substitution C G upstream_gene_variant LIRI-JP 22 40362528 40362528 single base substitution A G downstream_gene_variant LIRI-JP 22 40362528 40362528 single base substitution A G intron_variant LIRI-JP 22 40362528 40362528 single base substitution A G upstream_gene_variant LIRI-JP 22 40362635 40362635 single base substitution T C downstream_gene_variant LIRI-JP 22 40362635 40362635 single base substitution T C intron_variant LIRI-JP 22 40362635 40362635 single base substitution T C upstream_gene_variant LIRI-JP 22 40363770 40363770 single base substitution A T downstream_gene_variant LIRI-JP 22 40363770 40363770 single base substitution A T intron_variant LIRI-JP 22 40363770 40363770 single base substitution A T upstream_gene_variant LIRI-JP 22 40364417 40364418 deletion of <=200bp TG - downstream_gene_variant LIRI-JP 22 40364417 40364418 deletion of <=200bp TG - exon_variant LIRI-JP 22 40364417 40364418 deletion of <=200bp TG - intron_variant LIRI-JP 22 40364417 40364418 deletion of <=200bp TG - upstream_gene_variant LIRI-JP 22 40368190 40368190 single base substitution C T 3_prime_UTR_variant LIRI-JP 22 40368190 40368190 single base substitution C T downstream_gene_variant LIRI-JP 22 40370340 40370340 single base substitution T C downstream_gene_variant LIRI-JP 22 40372999 40372999 single base substitution A G downstream_gene_variant LUSC-KR 22 40293295 40293295 single base substitution C A upstream_gene_variant LUSC-KR 22 40295193 40295193 single base substitution C A upstream_gene_variant LUSC-KR 22 40297517 40297517 single base substitution T C intron_variant LUSC-KR 22 40301242 40301242 single base substitution C A intron_variant LUSC-KR 22 40311738 40311738 single base substitution G T intron_variant LUSC-KR 22 40313917 40313917 single base substitution T C intron_variant LUSC-KR 22 40318400 40318400 single base substitution G A intron_variant LUSC-KR 22 40318400 40318400 single base substitution G A upstream_gene_variant LUSC-KR 22 40318897 40318897 single base substitution T A intron_variant LUSC-KR 22 40318897 40318897 single base substitution T A upstream_gene_variant LUSC-KR 22 40324626 40324626 single base substitution T G intron_variant LUSC-KR 22 40325240 40325240 single base substitution T C intron_variant LUSC-KR 22 40327487 40327487 single base substitution G T intron_variant LUSC-KR 22 40331685 40331685 single base substitution C T intron_variant LUSC-KR 22 40333263 40333263 single base substitution C T intron_variant LUSC-KR 22 40337670 40337670 single base substitution T C intron_variant LUSC-KR 22 40337855 40337855 single base substitution A G intron_variant LUSC-KR 22 40337855 40337855 single base substitution A G upstream_gene_variant LUSC-KR 22 40339426 40339426 single base substitution G T intron_variant LUSC-KR 22 40339426 40339426 single base substitution G T upstream_gene_variant LUSC-KR 22 40339565 40339565 single base substitution G A intron_variant LUSC-KR 22 40339565 40339565 single base substitution G A upstream_gene_variant LUSC-KR 22 40339675 40339675 single base substitution C A intron_variant LUSC-KR 22 40339675 40339675 single base substitution C A upstream_gene_variant LUSC-KR 22 40339908 40339908 single base substitution G C intron_variant LUSC-KR 22 40339908 40339908 single base substitution G C upstream_gene_variant LUSC-KR 22 40341679 40341679 single base substitution T C intron_variant LUSC-KR 22 40341679 40341679 single base substitution T C upstream_gene_variant LUSC-KR 22 40342018 40342018 single base substitution C T intron_variant LUSC-KR 22 40342018 40342018 single base substitution C T upstream_gene_variant LUSC-KR 22 40349802 40349802 single base substitution G A intron_variant LUSC-KR 22 40349957 40349957 single base substitution G T intron_variant LUSC-KR 22 40353171 40353171 single base substitution C G intron_variant LUSC-KR 22 40363073 40363073 single base substitution C G downstream_gene_variant LUSC-KR 22 40363073 40363073 single base substitution C G intron_variant LUSC-KR 22 40363073 40363073 single base substitution C G upstream_gene_variant LUSC-KR 22 40369988 40369988 single base substitution C T downstream_gene_variant LUSC-KR 22 40372194 40372194 single base substitution G C downstream_gene_variant LUSC-KR 22 40372960 40372960 single base substitution T C downstream_gene_variant LUSC-US 22 40367029 40367029 single base substitution C A downstream_gene_variant LUSC-US 22 40367029 40367029 single base substitution C A exon_variant LUSC-US 22 40367029 40367029 single base substitution C A missense_variant R199S 595C>A LUSC-US 22 40367029 40367029 single base substitution C A missense_variant R240S 718C>A LUSC-US 22 40367029 40367029 single base substitution C A missense_variant R246S 736C>A LUSC-US 22 40367029 40367029 single base substitution C A missense_variant R260S 778C>A LUSC-US 22 40367029 40367029 single base substitution C A missense_variant R312S 934C>A MALY-DE 22 40292328 40292328 single base substitution C T upstream_gene_variant MALY-DE 22 40293185 40293185 single base substitution A C upstream_gene_variant MALY-DE 22 40295065 40295065 single base substitution G C upstream_gene_variant MALY-DE 22 40296845 40296845 single base substitution T C upstream_gene_variant MALY-DE 22 40300035 40300035 single base substitution G A intron_variant MALY-DE 22 40302554 40302554 deletion of <=200bp A - intron_variant MALY-DE 22 40305487 40305487 single base substitution C T intron_variant MALY-DE 22 40310891 40310891 insertion of <=200bp - A intron_variant MALY-DE 22 40311687 40311687 single base substitution A G intron_variant MALY-DE 22 40312329 40312329 single base substitution G C intron_variant MALY-DE 22 40313092 40313092 single base substitution G A intron_variant MALY-DE 22 40323175 40323175 insertion of <=200bp - C intron_variant MALY-DE 22 40325658 40325658 single base substitution A T intron_variant MALY-DE 22 40337449 40337449 single base substitution T A intron_variant MALY-DE 22 40342000 40342000 single base substitution G C intron_variant MALY-DE 22 40342000 40342000 single base substitution G C upstream_gene_variant MALY-DE 22 40346088 40346088 single base substitution G A downstream_gene_variant MALY-DE 22 40346088 40346088 single base substitution G A intron_variant MALY-DE 22 40347816 40347816 single base substitution A T downstream_gene_variant MALY-DE 22 40347816 40347816 single base substitution A T intron_variant MALY-DE 22 40353954 40353954 single base substitution T A intron_variant MALY-DE 22 40362057 40362057 single base substitution G C exon_variant MALY-DE 22 40362057 40362057 single base substitution G C intron_variant MALY-DE 22 40362057 40362057 single base substitution G C missense_variant W118C 354G>C MALY-DE 22 40362057 40362057 single base substitution G C missense_variant W46C 138G>C MALY-DE 22 40362057 40362057 single base substitution G C missense_variant W52C 156G>C MALY-DE 22 40362057 40362057 single base substitution G C missense_variant W78C 234G>C MALY-DE 22 40362057 40362057 single base substitution G C upstream_gene_variant MALY-DE 22 40363323 40363323 single base substitution G A downstream_gene_variant MALY-DE 22 40363323 40363323 single base substitution G A intron_variant MALY-DE 22 40363323 40363323 single base substitution G A upstream_gene_variant MALY-DE 22 40364187 40364187 single base substitution C A downstream_gene_variant MALY-DE 22 40364187 40364187 single base substitution C A exon_variant MALY-DE 22 40364187 40364187 single base substitution C A missense_variant Q129K 385C>A MALY-DE 22 40364187 40364187 single base substitution C A missense_variant Q135K 403C>A MALY-DE 22 40364187 40364187 single base substitution C A missense_variant Q161K 481C>A MALY-DE 22 40364187 40364187 single base substitution C A missense_variant Q201K 601C>A MALY-DE 22 40364187 40364187 single base substitution C A missense_variant Q88K 262C>A MALY-DE 22 40364187 40364187 single base substitution C A upstream_gene_variant MALY-DE 22 40365480 40365480 single base substitution G T downstream_gene_variant MALY-DE 22 40365480 40365480 single base substitution G T exon_variant MALY-DE 22 40365480 40365480 single base substitution G T missense_variant M139I 417G>T MALY-DE 22 40365480 40365480 single base substitution G T missense_variant M180I 540G>T MALY-DE 22 40365480 40365480 single base substitution G T missense_variant M186I 558G>T MALY-DE 22 40365480 40365480 single base substitution G T missense_variant M212I 636G>T MALY-DE 22 40365480 40365480 single base substitution G T missense_variant M252I 756G>T MALY-DE 22 40373877 40373877 single base substitution G A downstream_gene_variant MELA-AU 22 40292482 40292482 single base substitution G A upstream_gene_variant MELA-AU 22 40292565 40292565 single base substitution G A upstream_gene_variant MELA-AU 22 40292852 40292852 single base substitution A G upstream_gene_variant MELA-AU 22 40292979 40292979 single base substitution C T upstream_gene_variant MELA-AU 22 40293045 40293045 single base substitution C T upstream_gene_variant MELA-AU 22 40293086 40293086 single base substitution C T upstream_gene_variant MELA-AU 22 40293359 40293359 single base substitution G A upstream_gene_variant MELA-AU 22 40293592 40293592 single base substitution C T upstream_gene_variant MELA-AU 22 40293634 40293634 single base substitution C T upstream_gene_variant MELA-AU 22 40293643 40293643 single base substitution C T upstream_gene_variant MELA-AU 22 40293751 40293751 single base substitution G A upstream_gene_variant MELA-AU 22 40293765 40293765 single base substitution C T upstream_gene_variant MELA-AU 22 40293793 40293793 single base substitution G A upstream_gene_variant MELA-AU 22 40293883 40293883 single base substitution C T upstream_gene_variant MELA-AU 22 40293959 40293959 single base substitution C T upstream_gene_variant MELA-AU 22 40294167 40294167 single base substitution G A upstream_gene_variant MELA-AU 22 40294203 40294203 single base substitution C T upstream_gene_variant MELA-AU 22 40294638 40294638 single base substitution G A upstream_gene_variant MELA-AU 22 40294970 40294970 single base substitution C T upstream_gene_variant MELA-AU 22 40295387 40295387 single base substitution G A upstream_gene_variant MELA-AU 22 40295517 40295517 single base substitution G A upstream_gene_variant MELA-AU 22 40295623 40295623 single base substitution C T upstream_gene_variant MELA-AU 22 40296010 40296010 single base substitution G A upstream_gene_variant MELA-AU 22 40296047 40296047 single base substitution A T upstream_gene_variant MELA-AU 22 40296132 40296132 single base substitution G A upstream_gene_variant MELA-AU 22 40296321 40296321 single base substitution C T upstream_gene_variant MELA-AU 22 40296440 40296440 single base substitution G A upstream_gene_variant MELA-AU 22 40296516 40296516 single base substitution G A upstream_gene_variant MELA-AU 22 40296615 40296615 single base substitution G A upstream_gene_variant MELA-AU 22 40296789 40296789 single base substitution C T upstream_gene_variant MELA-AU 22 40296793 40296793 single base substitution C T upstream_gene_variant MELA-AU 22 40296823 40296823 single base substitution G A upstream_gene_variant MELA-AU 22 40297259 40297259 single base substitution C T 5_prime_UTR_variant MELA-AU 22 40297259 40297259 single base substitution C T missense_variant S6F 17C>T MELA-AU 22 40297803 40297803 single base substitution G A intron_variant MELA-AU 22 40298200 40298200 single base substitution C T intron_variant MELA-AU 22 40298494 40298494 single base substitution G A intron_variant MELA-AU 22 40298538 40298538 single base substitution G A intron_variant MELA-AU 22 40298586 40298586 single base substitution G A intron_variant MELA-AU 22 40298596 40298596 single base substitution C T intron_variant MELA-AU 22 40298673 40298673 single base substitution G A intron_variant MELA-AU 22 40299204 40299205 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 40299381 40299381 single base substitution C T intron_variant MELA-AU 22 40299701 40299701 single base substitution G A intron_variant MELA-AU 22 40299739 40299739 single base substitution C T intron_variant MELA-AU 22 40299858 40299858 single base substitution G A intron_variant MELA-AU 22 40300047 40300047 single base substitution G A intron_variant MELA-AU 22 40300286 40300286 single base substitution G A intron_variant MELA-AU 22 40300400 40300400 single base substitution G A intron_variant MELA-AU 22 40300710 40300710 single base substitution C T intron_variant MELA-AU 22 40300875 40300875 single base substitution C T intron_variant MELA-AU 22 40301372 40301372 single base substitution C T intron_variant MELA-AU 22 40301547 40301547 single base substitution G A intron_variant MELA-AU 22 40301892 40301892 single base substitution A T intron_variant MELA-AU 22 40302091 40302091 single base substitution G A intron_variant MELA-AU 22 40302363 40302364 multiple base substitution (>=2bp and <=200bp) AT GA intron_variant MELA-AU 22 40302752 40302752 single base substitution G A intron_variant MELA-AU 22 40302759 40302759 single base substitution G A intron_variant MELA-AU 22 40302961 40302961 single base substitution C T intron_variant MELA-AU 22 40303041 40303041 single base substitution C T intron_variant MELA-AU 22 40303357 40303357 single base substitution G A intron_variant MELA-AU 22 40303614 40303614 single base substitution C T intron_variant MELA-AU 22 40304865 40304865 single base substitution C T intron_variant MELA-AU 22 40304894 40304894 single base substitution G A intron_variant MELA-AU 22 40305051 40305051 single base substitution T C intron_variant MELA-AU 22 40305656 40305656 single base substitution C A intron_variant MELA-AU 22 40305865 40305865 single base substitution G A intron_variant MELA-AU 22 40305890 40305890 single base substitution C T intron_variant MELA-AU 22 40306348 40306348 single base substitution G C intron_variant MELA-AU 22 40306503 40306503 single base substitution C T intron_variant MELA-AU 22 40306603 40306603 single base substitution G A intron_variant MELA-AU 22 40306648 40306648 single base substitution T G intron_variant MELA-AU 22 40306958 40306958 single base substitution C T intron_variant MELA-AU 22 40306959 40306959 single base substitution C T intron_variant MELA-AU 22 40307061 40307061 single base substitution C T intron_variant MELA-AU 22 40307527 40307527 single base substitution C T intron_variant MELA-AU 22 40307615 40307615 single base substitution C T intron_variant MELA-AU 22 40307961 40307961 single base substitution G A intron_variant MELA-AU 22 40308054 40308054 single base substitution C T intron_variant MELA-AU 22 40308081 40308081 single base substitution T A intron_variant MELA-AU 22 40308246 40308246 single base substitution G A intron_variant MELA-AU 22 40308385 40308385 single base substitution G C intron_variant MELA-AU 22 40308493 40308493 single base substitution G C intron_variant MELA-AU 22 40308629 40308629 single base substitution C T intron_variant MELA-AU 22 40308670 40308670 single base substitution G A intron_variant MELA-AU 22 40308827 40308827 single base substitution C T intron_variant MELA-AU 22 40309724 40309724 single base substitution C T intron_variant MELA-AU 22 40309729 40309730 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 40309890 40309890 single base substitution C T intron_variant MELA-AU 22 40310484 40310484 single base substitution G A intron_variant MELA-AU 22 40310751 40310751 single base substitution C T intron_variant MELA-AU 22 40311101 40311101 single base substitution G A intron_variant MELA-AU 22 40311491 40311491 single base substitution C G intron_variant MELA-AU 22 40311530 40311530 single base substitution C T intron_variant MELA-AU 22 40312035 40312035 single base substitution C T intron_variant MELA-AU 22 40312075 40312075 single base substitution C T intron_variant MELA-AU 22 40312158 40312158 single base substitution T G intron_variant MELA-AU 22 40312207 40312207 single base substitution C T intron_variant MELA-AU 22 40312274 40312274 single base substitution G A intron_variant MELA-AU 22 40312368 40312368 single base substitution T C intron_variant MELA-AU 22 40312383 40312383 single base substitution G A intron_variant MELA-AU 22 40312725 40312725 single base substitution G A intron_variant MELA-AU 22 40313280 40313280 single base substitution C T intron_variant MELA-AU 22 40313317 40313317 single base substitution C T intron_variant MELA-AU 22 40313339 40313339 single base substitution A G intron_variant MELA-AU 22 40313415 40313415 single base substitution C T intron_variant MELA-AU 22 40313617 40313617 single base substitution T C intron_variant MELA-AU 22 40313637 40313637 single base substitution G A intron_variant MELA-AU 22 40314003 40314003 single base substitution T A intron_variant MELA-AU 22 40314012 40314012 single base substitution C T intron_variant MELA-AU 22 40314419 40314419 single base substitution G A intron_variant MELA-AU 22 40315197 40315197 single base substitution T C intron_variant MELA-AU 22 40315441 40315441 single base substitution C T intron_variant MELA-AU 22 40315514 40315514 single base substitution C T intron_variant MELA-AU 22 40315519 40315519 single base substitution C T intron_variant MELA-AU 22 40315801 40315801 single base substitution G A intron_variant MELA-AU 22 40315899 40315899 single base substitution C T intron_variant MELA-AU 22 40315984 40315984 single base substitution C T intron_variant MELA-AU 22 40316230 40316230 single base substitution G A intron_variant MELA-AU 22 40316340 40316340 single base substitution C T intron_variant MELA-AU 22 40316349 40316349 single base substitution C T intron_variant MELA-AU 22 40316441 40316441 single base substitution C T intron_variant MELA-AU 22 40316699 40316699 single base substitution G A intron_variant MELA-AU 22 40316843 40316843 single base substitution A G intron_variant MELA-AU 22 40316850 40316850 single base substitution T G intron_variant MELA-AU 22 40317548 40317548 single base substitution G A intron_variant MELA-AU 22 40317594 40317594 single base substitution A G intron_variant MELA-AU 22 40317745 40317745 single base substitution C T intron_variant MELA-AU 22 40317745 40317745 single base substitution C T upstream_gene_variant MELA-AU 22 40318225 40318225 single base substitution C T intron_variant MELA-AU 22 40318225 40318225 single base substitution C T upstream_gene_variant MELA-AU 22 40318448 40318449 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 40318448 40318449 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 40318697 40318697 single base substitution G A intron_variant MELA-AU 22 40318697 40318697 single base substitution G A upstream_gene_variant MELA-AU 22 40318705 40318705 single base substitution G A intron_variant MELA-AU 22 40318705 40318705 single base substitution G A upstream_gene_variant MELA-AU 22 40318910 40318910 single base substitution G A intron_variant MELA-AU 22 40318910 40318910 single base substitution G A upstream_gene_variant MELA-AU 22 40319063 40319063 single base substitution C T intron_variant MELA-AU 22 40319063 40319063 single base substitution C T upstream_gene_variant MELA-AU 22 40319154 40319154 single base substitution G A intron_variant MELA-AU 22 40319154 40319154 single base substitution G A upstream_gene_variant MELA-AU 22 40319161 40319161 single base substitution C T intron_variant MELA-AU 22 40319161 40319161 single base substitution C T upstream_gene_variant MELA-AU 22 40319522 40319522 single base substitution C T intron_variant MELA-AU 22 40319522 40319522 single base substitution C T upstream_gene_variant MELA-AU 22 40319697 40319697 single base substitution G A intron_variant MELA-AU 22 40319697 40319697 single base substitution G A upstream_gene_variant MELA-AU 22 40319786 40319786 single base substitution C T intron_variant MELA-AU 22 40319786 40319786 single base substitution C T upstream_gene_variant MELA-AU 22 40319842 40319842 single base substitution C T intron_variant MELA-AU 22 40319842 40319842 single base substitution C T upstream_gene_variant MELA-AU 22 40319920 40319920 single base substitution G A intron_variant MELA-AU 22 40319920 40319920 single base substitution G A upstream_gene_variant MELA-AU 22 40320190 40320190 single base substitution G A intron_variant MELA-AU 22 40320190 40320190 single base substitution G A upstream_gene_variant MELA-AU 22 40320312 40320312 single base substitution T A intron_variant MELA-AU 22 40320312 40320312 single base substitution T A upstream_gene_variant MELA-AU 22 40320326 40320326 single base substitution G A intron_variant MELA-AU 22 40320326 40320326 single base substitution G A upstream_gene_variant MELA-AU 22 40320471 40320471 single base substitution G A intron_variant MELA-AU 22 40320471 40320471 single base substitution G A upstream_gene_variant MELA-AU 22 40321001 40321001 single base substitution G A intron_variant MELA-AU 22 40321001 40321001 single base substitution G A upstream_gene_variant MELA-AU 22 40321266 40321266 single base substitution C T intron_variant MELA-AU 22 40321266 40321266 single base substitution C T upstream_gene_variant MELA-AU 22 40321341 40321341 single base substitution G A intron_variant MELA-AU 22 40321341 40321341 single base substitution G A upstream_gene_variant MELA-AU 22 40321423 40321423 single base substitution C A intron_variant MELA-AU 22 40321423 40321423 single base substitution C A upstream_gene_variant MELA-AU 22 40321705 40321705 single base substitution G A intron_variant MELA-AU 22 40321705 40321705 single base substitution G A upstream_gene_variant MELA-AU 22 40321871 40321871 single base substitution G A intron_variant MELA-AU 22 40321871 40321871 single base substitution G A upstream_gene_variant MELA-AU 22 40322027 40322027 single base substitution C T intron_variant MELA-AU 22 40322027 40322027 single base substitution C T upstream_gene_variant MELA-AU 22 40322086 40322086 single base substitution C T intron_variant MELA-AU 22 40322086 40322086 single base substitution C T upstream_gene_variant MELA-AU 22 40322199 40322199 single base substitution C T intron_variant MELA-AU 22 40322199 40322199 single base substitution C T upstream_gene_variant MELA-AU 22 40322506 40322506 single base substitution G A intron_variant MELA-AU 22 40322506 40322506 single base substitution G A upstream_gene_variant MELA-AU 22 40322621 40322621 single base substitution G T 5_prime_UTR_variant MELA-AU 22 40322621 40322621 single base substitution G T exon_variant MELA-AU 22 40322621 40322621 single base substitution G T intron_variant MELA-AU 22 40322621 40322621 single base substitution G T upstream_gene_variant MELA-AU 22 40322755 40322757 multiple base substitution (>=2bp and <=200bp) CCC TTT 5_prime_UTR_variant MELA-AU 22 40322755 40322757 multiple base substitution (>=2bp and <=200bp) CCC TTT exon_variant MELA-AU 22 40322755 40322757 multiple base substitution (>=2bp and <=200bp) CCC TTT intron_variant MELA-AU 22 40322791 40322791 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 22 40322791 40322791 single base substitution C T exon_variant MELA-AU 22 40322791 40322791 single base substitution C T intron_variant MELA-AU 22 40323753 40323753 single base substitution C T intron_variant MELA-AU 22 40323786 40323786 single base substitution G A intron_variant MELA-AU 22 40323813 40323813 single base substitution G A intron_variant MELA-AU 22 40324473 40324473 single base substitution C T intron_variant MELA-AU 22 40324589 40324589 single base substitution C T intron_variant MELA-AU 22 40324641 40324641 single base substitution C T intron_variant MELA-AU 22 40325116 40325116 single base substitution G A intron_variant MELA-AU 22 40325125 40325125 single base substitution G A intron_variant MELA-AU 22 40325169 40325169 single base substitution T C intron_variant MELA-AU 22 40325208 40325208 single base substitution G A intron_variant MELA-AU 22 40325217 40325217 single base substitution G A intron_variant MELA-AU 22 40325581 40325581 single base substitution G A intron_variant MELA-AU 22 40325584 40325584 single base substitution G A intron_variant MELA-AU 22 40325621 40325621 single base substitution A G intron_variant MELA-AU 22 40325695 40325695 single base substitution C T intron_variant MELA-AU 22 40325798 40325798 single base substitution C T intron_variant MELA-AU 22 40325873 40325873 single base substitution C T intron_variant MELA-AU 22 40325978 40325978 single base substitution C T intron_variant MELA-AU 22 40325984 40325984 single base substitution G A intron_variant MELA-AU 22 40326079 40326079 single base substitution C T intron_variant MELA-AU 22 40326160 40326160 single base substitution C T intron_variant MELA-AU 22 40326207 40326207 single base substitution C T intron_variant MELA-AU 22 40326320 40326320 single base substitution A G intron_variant MELA-AU 22 40326697 40326697 single base substitution C T intron_variant MELA-AU 22 40326713 40326713 single base substitution G A intron_variant MELA-AU 22 40326960 40326960 single base substitution C T intron_variant MELA-AU 22 40326961 40326961 single base substitution T C intron_variant MELA-AU 22 40327022 40327022 single base substitution C T intron_variant MELA-AU 22 40327031 40327031 single base substitution C T intron_variant MELA-AU 22 40327281 40327281 single base substitution C T intron_variant MELA-AU 22 40327350 40327350 single base substitution G A intron_variant MELA-AU 22 40327601 40327601 single base substitution C T intron_variant MELA-AU 22 40327609 40327609 single base substitution C T intron_variant MELA-AU 22 40327646 40327646 single base substitution G A intron_variant MELA-AU 22 40328107 40328107 single base substitution G A intron_variant MELA-AU 22 40328140 40328140 single base substitution G A intron_variant MELA-AU 22 40328160 40328160 single base substitution G A intron_variant MELA-AU 22 40328812 40328812 single base substitution G A intron_variant MELA-AU 22 40328854 40328854 single base substitution C A intron_variant MELA-AU 22 40328854 40328854 single base substitution C T intron_variant MELA-AU 22 40328861 40328861 single base substitution C T intron_variant MELA-AU 22 40329045 40329045 single base substitution C T intron_variant MELA-AU 22 40329901 40329901 single base substitution G A intron_variant MELA-AU 22 40330450 40330450 single base substitution C T intron_variant MELA-AU 22 40330549 40330549 single base substitution G A intron_variant MELA-AU 22 40330802 40330802 single base substitution G A intron_variant MELA-AU 22 40331069 40331069 single base substitution G A intron_variant MELA-AU 22 40331360 40331360 single base substitution G A intron_variant MELA-AU 22 40331449 40331449 single base substitution G A intron_variant MELA-AU 22 40331615 40331615 single base substitution G A intron_variant MELA-AU 22 40332020 40332020 single base substitution A G intron_variant MELA-AU 22 40332081 40332081 single base substitution C T intron_variant MELA-AU 22 40332415 40332415 single base substitution G A intron_variant MELA-AU 22 40332586 40332586 single base substitution G A intron_variant MELA-AU 22 40332708 40332708 single base substitution G A intron_variant MELA-AU 22 40332733 40332733 single base substitution G A intron_variant MELA-AU 22 40332942 40332942 single base substitution C T intron_variant MELA-AU 22 40332997 40332997 single base substitution G A intron_variant MELA-AU 22 40333022 40333022 single base substitution G A intron_variant MELA-AU 22 40333486 40333486 single base substitution G A intron_variant MELA-AU 22 40333495 40333495 single base substitution G A intron_variant MELA-AU 22 40334140 40334140 single base substitution C T intron_variant MELA-AU 22 40334218 40334218 single base substitution G A intron_variant MELA-AU 22 40335151 40335151 single base substitution C T intron_variant MELA-AU 22 40335201 40335201 single base substitution G A intron_variant MELA-AU 22 40335252 40335252 single base substitution C T intron_variant MELA-AU 22 40335485 40335485 single base substitution G A intron_variant MELA-AU 22 40335648 40335648 single base substitution A G intron_variant MELA-AU 22 40335734 40335734 single base substitution G A intron_variant MELA-AU 22 40335881 40335881 single base substitution C A intron_variant MELA-AU 22 40335918 40335918 single base substitution A T intron_variant MELA-AU 22 40335935 40335935 single base substitution C T intron_variant MELA-AU 22 40335997 40335997 single base substitution G A intron_variant MELA-AU 22 40336352 40336352 single base substitution T C intron_variant MELA-AU 22 40336495 40336496 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 40336695 40336695 single base substitution G A intron_variant MELA-AU 22 40336784 40336784 single base substitution G A intron_variant MELA-AU 22 40336906 40336906 single base substitution G A intron_variant MELA-AU 22 40337056 40337056 single base substitution G A intron_variant MELA-AU 22 40337921 40337921 single base substitution G A intron_variant MELA-AU 22 40337921 40337921 single base substitution G A upstream_gene_variant MELA-AU 22 40338059 40338059 single base substitution C T intron_variant MELA-AU 22 40338059 40338059 single base substitution C T upstream_gene_variant MELA-AU 22 40338538 40338538 single base substitution C T intron_variant MELA-AU 22 40338538 40338538 single base substitution C T upstream_gene_variant MELA-AU 22 40338738 40338738 single base substitution G A intron_variant MELA-AU 22 40338738 40338738 single base substitution G A upstream_gene_variant MELA-AU 22 40338877 40338877 single base substitution C T intron_variant MELA-AU 22 40338877 40338877 single base substitution C T upstream_gene_variant MELA-AU 22 40339112 40339112 single base substitution A G intron_variant MELA-AU 22 40339112 40339112 single base substitution A G upstream_gene_variant MELA-AU 22 40339271 40339271 single base substitution T G intron_variant MELA-AU 22 40339271 40339271 single base substitution T G upstream_gene_variant MELA-AU 22 40339465 40339466 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 40339465 40339466 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 40339552 40339552 single base substitution G A intron_variant MELA-AU 22 40339552 40339552 single base substitution G A upstream_gene_variant MELA-AU 22 40340048 40340048 single base substitution G A intron_variant MELA-AU 22 40340048 40340048 single base substitution G A upstream_gene_variant MELA-AU 22 40340159 40340159 single base substitution T C intron_variant MELA-AU 22 40340159 40340159 single base substitution T C upstream_gene_variant MELA-AU 22 40340219 40340219 single base substitution G A intron_variant MELA-AU 22 40340219 40340219 single base substitution G A upstream_gene_variant MELA-AU 22 40340240 40340240 single base substitution C T intron_variant MELA-AU 22 40340240 40340240 single base substitution C T upstream_gene_variant MELA-AU 22 40340463 40340463 single base substitution G A intron_variant MELA-AU 22 40340463 40340463 single base substitution G A upstream_gene_variant MELA-AU 22 40340629 40340629 single base substitution C T intron_variant MELA-AU 22 40340629 40340629 single base substitution C T upstream_gene_variant MELA-AU 22 40341266 40341266 single base substitution T G intron_variant MELA-AU 22 40341266 40341266 single base substitution T G upstream_gene_variant MELA-AU 22 40341521 40341521 single base substitution C T intron_variant MELA-AU 22 40341521 40341521 single base substitution C T upstream_gene_variant MELA-AU 22 40342692 40342692 single base substitution G A intron_variant MELA-AU 22 40342692 40342692 single base substitution G A upstream_gene_variant MELA-AU 22 40343480 40343480 single base substitution G T exon_variant MELA-AU 22 40343480 40343480 single base substitution G T intron_variant MELA-AU 22 40343511 40343511 single base substitution G A exon_variant MELA-AU 22 40343511 40343511 single base substitution G A intron_variant MELA-AU 22 40343901 40343901 single base substitution C T exon_variant MELA-AU 22 40343901 40343901 single base substitution C T intron_variant MELA-AU 22 40344245 40344245 single base substitution G A exon_variant MELA-AU 22 40344245 40344245 single base substitution G A intron_variant MELA-AU 22 40344393 40344393 single base substitution C T exon_variant MELA-AU 22 40344393 40344393 single base substitution C T intron_variant MELA-AU 22 40344395 40344395 single base substitution C T exon_variant MELA-AU 22 40344395 40344395 single base substitution C T intron_variant MELA-AU 22 40344455 40344455 single base substitution C T exon_variant MELA-AU 22 40344455 40344455 single base substitution C T intron_variant MELA-AU 22 40344642 40344642 single base substitution C T downstream_gene_variant MELA-AU 22 40344642 40344642 single base substitution C T intron_variant MELA-AU 22 40344692 40344692 single base substitution C T downstream_gene_variant MELA-AU 22 40344692 40344692 single base substitution C T intron_variant MELA-AU 22 40344865 40344866 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 40344865 40344866 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 40344950 40344950 single base substitution G A downstream_gene_variant MELA-AU 22 40344950 40344950 single base substitution G A intron_variant MELA-AU 22 40345101 40345101 single base substitution C T downstream_gene_variant MELA-AU 22 40345101 40345101 single base substitution C T intron_variant MELA-AU 22 40345421 40345421 single base substitution G A downstream_gene_variant MELA-AU 22 40345421 40345421 single base substitution G A intron_variant MELA-AU 22 40345570 40345570 single base substitution G A downstream_gene_variant MELA-AU 22 40345570 40345570 single base substitution G A intron_variant MELA-AU 22 40345878 40345879 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 40345878 40345879 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 40345905 40345905 single base substitution C T downstream_gene_variant MELA-AU 22 40345905 40345905 single base substitution C T intron_variant MELA-AU 22 40345951 40345951 single base substitution T G downstream_gene_variant MELA-AU 22 40345951 40345951 single base substitution T G intron_variant MELA-AU 22 40346156 40346156 single base substitution C T downstream_gene_variant MELA-AU 22 40346156 40346156 single base substitution C T intron_variant MELA-AU 22 40346295 40346295 single base substitution G A downstream_gene_variant MELA-AU 22 40346295 40346295 single base substitution G A intron_variant MELA-AU 22 40346592 40346592 single base substitution C T downstream_gene_variant MELA-AU 22 40346592 40346592 single base substitution C T intron_variant MELA-AU 22 40346633 40346633 single base substitution A G downstream_gene_variant MELA-AU 22 40346633 40346633 single base substitution A G intron_variant MELA-AU 22 40346729 40346729 single base substitution C T downstream_gene_variant MELA-AU 22 40346729 40346729 single base substitution C T intron_variant MELA-AU 22 40346865 40346865 single base substitution T C downstream_gene_variant MELA-AU 22 40346865 40346865 single base substitution T C intron_variant MELA-AU 22 40347635 40347635 single base substitution C T downstream_gene_variant MELA-AU 22 40347635 40347635 single base substitution C T intron_variant MELA-AU 22 40347756 40347756 single base substitution G A downstream_gene_variant MELA-AU 22 40347756 40347756 single base substitution G A intron_variant MELA-AU 22 40347775 40347775 single base substitution C T downstream_gene_variant MELA-AU 22 40347775 40347775 single base substitution C T intron_variant MELA-AU 22 40348439 40348439 single base substitution A T downstream_gene_variant MELA-AU 22 40348439 40348439 single base substitution A T intron_variant MELA-AU 22 40349001 40349001 single base substitution C T downstream_gene_variant MELA-AU 22 40349001 40349001 single base substitution C T intron_variant MELA-AU 22 40349137 40349137 single base substitution C T downstream_gene_variant MELA-AU 22 40349137 40349137 single base substitution C T intron_variant MELA-AU 22 40349200 40349200 single base substitution C T downstream_gene_variant MELA-AU 22 40349200 40349200 single base substitution C T intron_variant MELA-AU 22 40349226 40349226 single base substitution C T downstream_gene_variant MELA-AU 22 40349226 40349226 single base substitution C T intron_variant MELA-AU 22 40349562 40349562 single base substitution C T intron_variant MELA-AU 22 40349791 40349791 single base substitution T G intron_variant MELA-AU 22 40350167 40350167 single base substitution C T intron_variant MELA-AU 22 40350618 40350618 single base substitution C T intron_variant MELA-AU 22 40351369 40351369 single base substitution G A intron_variant MELA-AU 22 40351435 40351435 single base substitution C T intron_variant MELA-AU 22 40351525 40351525 single base substitution G A intron_variant MELA-AU 22 40351537 40351537 single base substitution A G intron_variant MELA-AU 22 40351847 40351847 single base substitution T C exon_variant MELA-AU 22 40351847 40351847 single base substitution T C intron_variant MELA-AU 22 40351847 40351847 single base substitution T C missense_variant F35L 103T>C MELA-AU 22 40352353 40352353 single base substitution G A intron_variant MELA-AU 22 40352468 40352468 single base substitution A G intron_variant MELA-AU 22 40352664 40352664 single base substitution G A intron_variant MELA-AU 22 40352759 40352759 single base substitution C T intron_variant MELA-AU 22 40352841 40352841 single base substitution C T intron_variant MELA-AU 22 40353001 40353001 single base substitution C T intron_variant MELA-AU 22 40353430 40353430 single base substitution C T intron_variant MELA-AU 22 40353708 40353708 single base substitution G A intron_variant MELA-AU 22 40353754 40353754 single base substitution C G intron_variant MELA-AU 22 40353760 40353760 single base substitution G A intron_variant MELA-AU 22 40353854 40353854 single base substitution C T intron_variant MELA-AU 22 40353918 40353918 single base substitution C G intron_variant MELA-AU 22 40353983 40353983 single base substitution C T intron_variant MELA-AU 22 40353990 40353990 single base substitution C T intron_variant MELA-AU 22 40354092 40354092 single base substitution G A intron_variant MELA-AU 22 40354145 40354145 single base substitution C T intron_variant MELA-AU 22 40354467 40354467 single base substitution G A intron_variant MELA-AU 22 40354720 40354720 single base substitution G T intron_variant MELA-AU 22 40354724 40354724 single base substitution C T intron_variant MELA-AU 22 40354771 40354771 single base substitution C T intron_variant MELA-AU 22 40354863 40354863 single base substitution C T intron_variant MELA-AU 22 40355417 40355417 single base substitution C T intron_variant MELA-AU 22 40355576 40355576 single base substitution G A intron_variant MELA-AU 22 40355748 40355748 single base substitution C T intron_variant MELA-AU 22 40355774 40355774 single base substitution C T intron_variant MELA-AU 22 40356260 40356260 single base substitution G A downstream_gene_variant MELA-AU 22 40356260 40356260 single base substitution G A intron_variant MELA-AU 22 40356456 40356456 single base substitution C T downstream_gene_variant MELA-AU 22 40356456 40356456 single base substitution C T intron_variant MELA-AU 22 40356462 40356462 single base substitution C T downstream_gene_variant MELA-AU 22 40356462 40356462 single base substitution C T intron_variant MELA-AU 22 40356586 40356586 single base substitution T A downstream_gene_variant MELA-AU 22 40356586 40356586 single base substitution T A intron_variant MELA-AU 22 40356681 40356681 single base substitution G A downstream_gene_variant MELA-AU 22 40356681 40356681 single base substitution G A intron_variant MELA-AU 22 40356834 40356834 single base substitution C T downstream_gene_variant MELA-AU 22 40356834 40356834 single base substitution C T intron_variant MELA-AU 22 40356928 40356928 single base substitution G A downstream_gene_variant MELA-AU 22 40356928 40356928 single base substitution G A intron_variant MELA-AU 22 40357205 40357205 single base substitution G T downstream_gene_variant MELA-AU 22 40357205 40357205 single base substitution G T intron_variant MELA-AU 22 40357205 40357205 single base substitution G T upstream_gene_variant MELA-AU 22 40357219 40357219 single base substitution C T downstream_gene_variant MELA-AU 22 40357219 40357219 single base substitution C T intron_variant MELA-AU 22 40357219 40357219 single base substitution C T upstream_gene_variant MELA-AU 22 40357262 40357262 single base substitution G A downstream_gene_variant MELA-AU 22 40357262 40357262 single base substitution G A intron_variant MELA-AU 22 40357262 40357262 single base substitution G A upstream_gene_variant MELA-AU 22 40357307 40357307 single base substitution G A downstream_gene_variant MELA-AU 22 40357307 40357307 single base substitution G A intron_variant MELA-AU 22 40357307 40357307 single base substitution G A upstream_gene_variant MELA-AU 22 40357387 40357387 single base substitution G A downstream_gene_variant MELA-AU 22 40357387 40357387 single base substitution G A intron_variant MELA-AU 22 40357387 40357387 single base substitution G A upstream_gene_variant MELA-AU 22 40357434 40357434 single base substitution T A downstream_gene_variant MELA-AU 22 40357434 40357434 single base substitution T A intron_variant MELA-AU 22 40357434 40357434 single base substitution T A upstream_gene_variant MELA-AU 22 40357521 40357521 single base substitution G A downstream_gene_variant MELA-AU 22 40357521 40357521 single base substitution G A intron_variant MELA-AU 22 40357521 40357521 single base substitution G A upstream_gene_variant MELA-AU 22 40357731 40357731 single base substitution G A downstream_gene_variant MELA-AU 22 40357731 40357731 single base substitution G A intron_variant MELA-AU 22 40357731 40357731 single base substitution G A upstream_gene_variant MELA-AU 22 40357776 40357776 single base substitution G A downstream_gene_variant MELA-AU 22 40357776 40357776 single base substitution G A intron_variant MELA-AU 22 40357776 40357776 single base substitution G A upstream_gene_variant MELA-AU 22 40358037 40358038 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 40358037 40358038 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 40358037 40358038 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 40358043 40358043 single base substitution T C downstream_gene_variant MELA-AU 22 40358043 40358043 single base substitution T C intron_variant MELA-AU 22 40358043 40358043 single base substitution T C upstream_gene_variant MELA-AU 22 40358731 40358731 single base substitution G A downstream_gene_variant MELA-AU 22 40358731 40358731 single base substitution G A intron_variant MELA-AU 22 40358731 40358731 single base substitution G A upstream_gene_variant MELA-AU 22 40358944 40358944 single base substitution A C downstream_gene_variant MELA-AU 22 40358944 40358944 single base substitution A C intron_variant MELA-AU 22 40358944 40358944 single base substitution A C upstream_gene_variant MELA-AU 22 40358994 40358994 single base substitution C T downstream_gene_variant MELA-AU 22 40358994 40358994 single base substitution C T intron_variant MELA-AU 22 40358994 40358994 single base substitution C T upstream_gene_variant MELA-AU 22 40359194 40359194 single base substitution A G downstream_gene_variant MELA-AU 22 40359194 40359194 single base substitution A G intron_variant MELA-AU 22 40359194 40359194 single base substitution A G upstream_gene_variant MELA-AU 22 40359281 40359281 single base substitution C T downstream_gene_variant MELA-AU 22 40359281 40359281 single base substitution C T intron_variant MELA-AU 22 40359281 40359281 single base substitution C T upstream_gene_variant MELA-AU 22 40359326 40359326 single base substitution C T downstream_gene_variant MELA-AU 22 40359326 40359326 single base substitution C T intron_variant MELA-AU 22 40359326 40359326 single base substitution C T upstream_gene_variant MELA-AU 22 40359353 40359353 single base substitution A G downstream_gene_variant MELA-AU 22 40359353 40359353 single base substitution A G intron_variant MELA-AU 22 40359353 40359353 single base substitution A G upstream_gene_variant MELA-AU 22 40359689 40359689 single base substitution C T downstream_gene_variant MELA-AU 22 40359689 40359689 single base substitution C T intron_variant MELA-AU 22 40359689 40359689 single base substitution C T upstream_gene_variant MELA-AU 22 40360217 40360217 single base substitution G A downstream_gene_variant MELA-AU 22 40360217 40360217 single base substitution G A intron_variant MELA-AU 22 40360217 40360217 single base substitution G A upstream_gene_variant MELA-AU 22 40360866 40360866 single base substitution C T downstream_gene_variant MELA-AU 22 40360866 40360866 single base substitution C T intron_variant MELA-AU 22 40360866 40360866 single base substitution C T upstream_gene_variant MELA-AU 22 40361141 40361141 single base substitution C T downstream_gene_variant MELA-AU 22 40361141 40361141 single base substitution C T intron_variant MELA-AU 22 40361141 40361141 single base substitution C T upstream_gene_variant MELA-AU 22 40361409 40361409 single base substitution C T intron_variant MELA-AU 22 40361409 40361409 single base substitution C T upstream_gene_variant MELA-AU 22 40361713 40361713 single base substitution C T intron_variant MELA-AU 22 40361713 40361713 single base substitution C T upstream_gene_variant MELA-AU 22 40361991 40361991 single base substitution C T intron_variant MELA-AU 22 40361991 40361991 single base substitution C T splice_region_variant MELA-AU 22 40361991 40361991 single base substitution C T upstream_gene_variant MELA-AU 22 40362024 40362024 single base substitution C T exon_variant MELA-AU 22 40362024 40362024 single base substitution C T intron_variant MELA-AU 22 40362024 40362024 single base substitution C T synonymous_variant V107V 321C>T MELA-AU 22 40362024 40362024 single base substitution C T synonymous_variant V35V 105C>T MELA-AU 22 40362024 40362024 single base substitution C T synonymous_variant V41V 123C>T MELA-AU 22 40362024 40362024 single base substitution C T synonymous_variant V67V 201C>T MELA-AU 22 40362024 40362024 single base substitution C T upstream_gene_variant MELA-AU 22 40362110 40362110 single base substitution C T exon_variant MELA-AU 22 40362110 40362110 single base substitution C T intron_variant MELA-AU 22 40362110 40362110 single base substitution C T missense_variant S136F 407C>T MELA-AU 22 40362110 40362110 single base substitution C T missense_variant S64F 191C>T MELA-AU 22 40362110 40362110 single base substitution C T missense_variant S70F 209C>T MELA-AU 22 40362110 40362110 single base substitution C T missense_variant S96F 287C>T MELA-AU 22 40362110 40362110 single base substitution C T upstream_gene_variant MELA-AU 22 40362401 40362401 single base substitution G A downstream_gene_variant MELA-AU 22 40362401 40362401 single base substitution G A intron_variant MELA-AU 22 40362401 40362401 single base substitution G A upstream_gene_variant MELA-AU 22 40362593 40362593 single base substitution G A downstream_gene_variant MELA-AU 22 40362593 40362593 single base substitution G A intron_variant MELA-AU 22 40362593 40362593 single base substitution G A upstream_gene_variant MELA-AU 22 40362774 40362774 single base substitution C T downstream_gene_variant MELA-AU 22 40362774 40362774 single base substitution C T intron_variant MELA-AU 22 40362774 40362774 single base substitution C T upstream_gene_variant MELA-AU 22 40363189 40363189 single base substitution C T downstream_gene_variant MELA-AU 22 40363189 40363189 single base substitution C T intron_variant MELA-AU 22 40363189 40363189 single base substitution C T upstream_gene_variant MELA-AU 22 40363328 40363328 single base substitution G A downstream_gene_variant MELA-AU 22 40363328 40363328 single base substitution G A intron_variant MELA-AU 22 40363328 40363328 single base substitution G A upstream_gene_variant MELA-AU 22 40363853 40363853 single base substitution G A downstream_gene_variant MELA-AU 22 40363853 40363853 single base substitution G A intron_variant MELA-AU 22 40363853 40363853 single base substitution G A upstream_gene_variant MELA-AU 22 40363909 40363909 single base substitution C T downstream_gene_variant MELA-AU 22 40363909 40363909 single base substitution C T intron_variant MELA-AU 22 40363909 40363909 single base substitution C T upstream_gene_variant MELA-AU 22 40364008 40364008 single base substitution G A downstream_gene_variant MELA-AU 22 40364008 40364008 single base substitution G A intron_variant MELA-AU 22 40364008 40364008 single base substitution G A upstream_gene_variant MELA-AU 22 40364054 40364054 single base substitution G A downstream_gene_variant MELA-AU 22 40364054 40364054 single base substitution G A exon_variant MELA-AU 22 40364054 40364054 single base substitution G A synonymous_variant R116R 348G>A MELA-AU 22 40364054 40364054 single base substitution G A synonymous_variant R156R 468G>A MELA-AU 22 40364054 40364054 single base substitution G A synonymous_variant R43R 129G>A MELA-AU 22 40364054 40364054 single base substitution G A synonymous_variant R84R 252G>A MELA-AU 22 40364054 40364054 single base substitution G A synonymous_variant R90R 270G>A MELA-AU 22 40364054 40364054 single base substitution G A upstream_gene_variant MELA-AU 22 40364082 40364082 single base substitution G A downstream_gene_variant MELA-AU 22 40364082 40364082 single base substitution G A exon_variant MELA-AU 22 40364082 40364082 single base substitution G A missense_variant G100R 298G>A MELA-AU 22 40364082 40364082 single base substitution G A missense_variant G126R 376G>A MELA-AU 22 40364082 40364082 single base substitution G A missense_variant G166R 496G>A MELA-AU 22 40364082 40364082 single base substitution G A missense_variant G53R 157G>A MELA-AU 22 40364082 40364082 single base substitution G A missense_variant G94R 280G>A MELA-AU 22 40364082 40364082 single base substitution G A upstream_gene_variant MELA-AU 22 40364129 40364129 single base substitution G A downstream_gene_variant MELA-AU 22 40364129 40364129 single base substitution G A exon_variant MELA-AU 22 40364129 40364129 single base substitution G A synonymous_variant S109S 327G>A MELA-AU 22 40364129 40364129 single base substitution G A synonymous_variant S115S 345G>A MELA-AU 22 40364129 40364129 single base substitution G A synonymous_variant S141S 423G>A MELA-AU 22 40364129 40364129 single base substitution G A synonymous_variant S181S 543G>A MELA-AU 22 40364129 40364129 single base substitution G A synonymous_variant S68S 204G>A MELA-AU 22 40364129 40364129 single base substitution G A upstream_gene_variant MELA-AU 22 40364389 40364389 deletion of <=200bp C - downstream_gene_variant MELA-AU 22 40364389 40364389 deletion of <=200bp C - exon_variant MELA-AU 22 40364389 40364389 deletion of <=200bp C - intron_variant MELA-AU 22 40364389 40364389 deletion of <=200bp C - upstream_gene_variant MELA-AU 22 40364897 40364897 single base substitution C T downstream_gene_variant MELA-AU 22 40364897 40364897 single base substitution C T intron_variant MELA-AU 22 40364897 40364897 single base substitution C T upstream_gene_variant MELA-AU 22 40365111 40365111 single base substitution C T downstream_gene_variant MELA-AU 22 40365111 40365111 single base substitution C T intron_variant MELA-AU 22 40365111 40365111 single base substitution C T upstream_gene_variant MELA-AU 22 40365123 40365123 single base substitution G A downstream_gene_variant MELA-AU 22 40365123 40365123 single base substitution G A intron_variant MELA-AU 22 40365123 40365123 single base substitution G A upstream_gene_variant MELA-AU 22 40365284 40365284 single base substitution T C downstream_gene_variant MELA-AU 22 40365284 40365284 single base substitution T C intron_variant MELA-AU 22 40365284 40365284 single base substitution T C upstream_gene_variant MELA-AU 22 40365341 40365341 single base substitution G A downstream_gene_variant MELA-AU 22 40365341 40365341 single base substitution G A intron_variant MELA-AU 22 40365341 40365341 single base substitution G A upstream_gene_variant MELA-AU 22 40365414 40365414 single base substitution G A downstream_gene_variant MELA-AU 22 40365414 40365414 single base substitution G A exon_variant MELA-AU 22 40365414 40365414 single base substitution G A splice_acceptor_variant MELA-AU 22 40365557 40365557 single base substitution C T downstream_gene_variant MELA-AU 22 40365557 40365557 single base substitution C T intron_variant MELA-AU 22 40365568 40365568 single base substitution G A downstream_gene_variant MELA-AU 22 40365568 40365568 single base substitution G A intron_variant MELA-AU 22 40365793 40365793 single base substitution C T downstream_gene_variant MELA-AU 22 40365793 40365793 single base substitution C T intron_variant MELA-AU 22 40365844 40365845 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 40365844 40365845 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 40365890 40365891 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 40365890 40365891 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 22 40365974 40365974 single base substitution G A downstream_gene_variant MELA-AU 22 40365974 40365974 single base substitution G A intron_variant MELA-AU 22 40366204 40366204 single base substitution C T downstream_gene_variant MELA-AU 22 40366204 40366204 single base substitution C T intron_variant MELA-AU 22 40366752 40366752 single base substitution C T downstream_gene_variant MELA-AU 22 40366752 40366752 single base substitution C T intron_variant MELA-AU 22 40366789 40366789 single base substitution G A downstream_gene_variant MELA-AU 22 40366789 40366789 single base substitution G A intron_variant MELA-AU 22 40366947 40366947 single base substitution C T downstream_gene_variant MELA-AU 22 40366947 40366947 single base substitution C T exon_variant MELA-AU 22 40366947 40366947 single base substitution C T synonymous_variant A171A 513C>T MELA-AU 22 40366947 40366947 single base substitution C T synonymous_variant A212A 636C>T MELA-AU 22 40366947 40366947 single base substitution C T synonymous_variant A218A 654C>T MELA-AU 22 40366947 40366947 single base substitution C T synonymous_variant A244A 732C>T MELA-AU 22 40366947 40366947 single base substitution C T synonymous_variant A284A 852C>T MELA-AU 22 40367053 40367053 single base substitution T C downstream_gene_variant MELA-AU 22 40367053 40367053 single base substitution T C exon_variant MELA-AU 22 40367053 40367053 single base substitution T C missense_variant F207L 619T>C MELA-AU 22 40367053 40367053 single base substitution T C missense_variant F248L 742T>C MELA-AU 22 40367053 40367053 single base substitution T C missense_variant F254L 760T>C MELA-AU 22 40367053 40367053 single base substitution T C missense_variant F268L 802T>C MELA-AU 22 40367053 40367053 single base substitution T C missense_variant F320L 958T>C MELA-AU 22 40367268 40367268 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40367268 40367268 single base substitution G A downstream_gene_variant MELA-AU 22 40367359 40367359 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40367359 40367359 single base substitution G A downstream_gene_variant MELA-AU 22 40367781 40367781 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40367781 40367781 single base substitution G A downstream_gene_variant MELA-AU 22 40367879 40367879 single base substitution C T 3_prime_UTR_variant MELA-AU 22 40367879 40367879 single base substitution C T downstream_gene_variant MELA-AU 22 40367983 40367983 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40367983 40367983 single base substitution G A downstream_gene_variant MELA-AU 22 40367989 40367989 single base substitution C T 3_prime_UTR_variant MELA-AU 22 40367989 40367989 single base substitution C T downstream_gene_variant MELA-AU 22 40368166 40368166 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40368166 40368166 single base substitution G A downstream_gene_variant MELA-AU 22 40368543 40368543 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40368543 40368543 single base substitution G A downstream_gene_variant MELA-AU 22 40368623 40368623 single base substitution C T 3_prime_UTR_variant MELA-AU 22 40368623 40368623 single base substitution C T downstream_gene_variant MELA-AU 22 40368797 40368797 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40368797 40368797 single base substitution G A downstream_gene_variant MELA-AU 22 40369062 40369062 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40369062 40369062 single base substitution G A downstream_gene_variant MELA-AU 22 40369258 40369258 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40369258 40369258 single base substitution G A downstream_gene_variant MELA-AU 22 40369406 40369406 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40369406 40369406 single base substitution G A downstream_gene_variant MELA-AU 22 40369464 40369464 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40369464 40369464 single base substitution G A downstream_gene_variant MELA-AU 22 40369574 40369574 single base substitution G C 3_prime_UTR_variant MELA-AU 22 40369574 40369574 single base substitution G C downstream_gene_variant MELA-AU 22 40369679 40369679 single base substitution G A 3_prime_UTR_variant MELA-AU 22 40369679 40369679 single base substitution G A downstream_gene_variant MELA-AU 22 40369697 40369698 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 22 40369697 40369698 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 40369743 40369743 single base substitution C T downstream_gene_variant MELA-AU 22 40370063 40370063 single base substitution G A downstream_gene_variant MELA-AU 22 40370100 40370100 single base substitution A T downstream_gene_variant MELA-AU 22 40370362 40370362 single base substitution G A downstream_gene_variant MELA-AU 22 40370396 40370396 single base substitution C T downstream_gene_variant MELA-AU 22 40370419 40370419 single base substitution A T downstream_gene_variant MELA-AU 22 40370777 40370777 single base substitution C T downstream_gene_variant MELA-AU 22 40370785 40370785 single base substitution C T downstream_gene_variant MELA-AU 22 40370831 40370831 single base substitution G A downstream_gene_variant MELA-AU 22 40370935 40370935 single base substitution C T downstream_gene_variant MELA-AU 22 40371307 40371307 single base substitution C T downstream_gene_variant MELA-AU 22 40371431 40371431 single base substitution G A downstream_gene_variant MELA-AU 22 40372105 40372105 single base substitution C T downstream_gene_variant MELA-AU 22 40372287 40372288 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 40372288 40372288 single base substitution G A downstream_gene_variant MELA-AU 22 40372384 40372384 single base substitution C T downstream_gene_variant MELA-AU 22 40372551 40372551 single base substitution G A downstream_gene_variant MELA-AU 22 40372785 40372785 single base substitution C T downstream_gene_variant MELA-AU 22 40372800 40372800 single base substitution C T downstream_gene_variant MELA-AU 22 40372835 40372835 single base substitution C T downstream_gene_variant MELA-AU 22 40372867 40372867 single base substitution C T downstream_gene_variant MELA-AU 22 40372882 40372882 single base substitution G A downstream_gene_variant MELA-AU 22 40372965 40372965 single base substitution C T downstream_gene_variant MELA-AU 22 40373074 40373074 single base substitution C T downstream_gene_variant MELA-AU 22 40373402 40373402 single base substitution C T downstream_gene_variant MELA-AU 22 40373408 40373408 single base substitution C A downstream_gene_variant MELA-AU 22 40373481 40373481 single base substitution C T downstream_gene_variant MELA-AU 22 40373594 40373594 single base substitution G A downstream_gene_variant MELA-AU 22 40373824 40373824 single base substitution T A downstream_gene_variant MELA-AU 22 40373881 40373881 single base substitution C T downstream_gene_variant MELA-AU 22 40373931 40373931 single base substitution C T downstream_gene_variant MELA-AU 22 40373983 40373983 single base substitution G A downstream_gene_variant MELA-AU 22 40374163 40374163 single base substitution G A downstream_gene_variant MELA-AU 22 40374200 40374200 single base substitution G A downstream_gene_variant MELA-AU 22 40374216 40374216 single base substitution C T downstream_gene_variant MELA-AU 22 40374235 40374235 single base substitution G A downstream_gene_variant MELA-AU 22 40374388 40374388 single base substitution G A downstream_gene_variant MELA-AU 22 40374436 40374436 single base substitution G A downstream_gene_variant MELA-AU 22 40374506 40374506 single base substitution G A downstream_gene_variant ORCA-IN 22 40336387 40336387 deletion of <=200bp G - intron_variant ORCA-IN 22 40347144 40347144 single base substitution T C downstream_gene_variant ORCA-IN 22 40347144 40347144 single base substitution T C intron_variant ORCA-IN 22 40374709 40374709 single base substitution G T downstream_gene_variant OV-AU 22 40292110 40292110 single base substitution T C upstream_gene_variant OV-AU 22 40298135 40298135 single base substitution A G intron_variant OV-AU 22 40298602 40298602 single base substitution G C intron_variant OV-AU 22 40299188 40299188 single base substitution G T intron_variant OV-AU 22 40299544 40299544 single base substitution C T intron_variant OV-AU 22 40301314 40301314 single base substitution C T intron_variant OV-AU 22 40307243 40307243 single base substitution T A intron_variant OV-AU 22 40312331 40312331 single base substitution C T intron_variant OV-AU 22 40315912 40315912 single base substitution A G intron_variant OV-AU 22 40318868 40318868 single base substitution G A intron_variant OV-AU 22 40318868 40318868 single base substitution G A upstream_gene_variant OV-AU 22 40321292 40321292 single base substitution G A intron_variant OV-AU 22 40321292 40321292 single base substitution G A upstream_gene_variant OV-AU 22 40321667 40321667 single base substitution G A intron_variant OV-AU 22 40321667 40321667 single base substitution G A upstream_gene_variant OV-AU 22 40324530 40324530 single base substitution G T intron_variant OV-AU 22 40325571 40325571 single base substitution C T intron_variant OV-AU 22 40330734 40330734 single base substitution G T intron_variant OV-AU 22 40338660 40338660 single base substitution G C intron_variant OV-AU 22 40338660 40338660 single base substitution G C upstream_gene_variant OV-AU 22 40364815 40364815 single base substitution C G downstream_gene_variant OV-AU 22 40364815 40364815 single base substitution C G intron_variant OV-AU 22 40364815 40364815 single base substitution C G upstream_gene_variant OV-AU 22 40365962 40365962 single base substitution C A downstream_gene_variant OV-AU 22 40365962 40365962 single base substitution C A intron_variant OV-AU 22 40373202 40373202 single base substitution C G downstream_gene_variant PACA-AU 22 40294818 40294818 insertion of <=200bp - A upstream_gene_variant PACA-AU 22 40297350 40297357 deletion of <=200bp ACATCTGT - intron_variant PACA-AU 22 40297451 40297451 single base substitution C T intron_variant PACA-AU 22 40304007 40304007 single base substitution C T intron_variant PACA-AU 22 40304554 40304554 single base substitution C T intron_variant PACA-AU 22 40309070 40309070 single base substitution G A intron_variant PACA-AU 22 40310920 40310920 single base substitution C T intron_variant PACA-AU 22 40312402 40312402 single base substitution A G intron_variant PACA-AU 22 40317004 40317004 single base substitution A G intron_variant PACA-AU 22 40321224 40321224 single base substitution C A intron_variant PACA-AU 22 40321224 40321224 single base substitution C A upstream_gene_variant PACA-AU 22 40323599 40323599 single base substitution G C intron_variant PACA-AU 22 40330750 40330750 single base substitution T C intron_variant PACA-AU 22 40335302 40335302 single base substitution C T intron_variant PACA-AU 22 40342128 40342128 single base substitution G T intron_variant PACA-AU 22 40342128 40342128 single base substitution G T upstream_gene_variant PACA-AU 22 40342733 40342733 single base substitution C G intron_variant PACA-AU 22 40342733 40342733 single base substitution C G upstream_gene_variant PACA-AU 22 40343177 40343177 single base substitution G T 5_prime_UTR_variant PACA-AU 22 40343177 40343177 single base substitution G T exon_variant PACA-AU 22 40343177 40343177 single base substitution G T intron_variant PACA-AU 22 40343177 40343177 single base substitution G T missense_variant D23Y 67G>T PACA-AU 22 40344225 40344225 single base substitution T C exon_variant PACA-AU 22 40344225 40344225 single base substitution T C intron_variant PACA-AU 22 40347815 40347815 single base substitution T A downstream_gene_variant PACA-AU 22 40347815 40347815 single base substitution T A intron_variant PACA-AU 22 40351021 40351021 single base substitution A C intron_variant PACA-AU 22 40352562 40352562 single base substitution T A intron_variant PACA-AU 22 40355007 40355007 single base substitution A T intron_variant PACA-AU 22 40367051 40367051 single base substitution T A downstream_gene_variant PACA-AU 22 40367051 40367051 single base substitution T A exon_variant PACA-AU 22 40367051 40367051 single base substitution T A missense_variant L206H 617T>A PACA-AU 22 40367051 40367051 single base substitution T A missense_variant L247H 740T>A PACA-AU 22 40367051 40367051 single base substitution T A missense_variant L253H 758T>A PACA-AU 22 40367051 40367051 single base substitution T A missense_variant L267H 800T>A PACA-AU 22 40367051 40367051 single base substitution T A missense_variant L319H 956T>A PACA-AU 22 40372308 40372308 single base substitution G A downstream_gene_variant PACA-AU 22 40374443 40374443 single base substitution G T downstream_gene_variant PACA-CA 22 40295635 40295635 single base substitution T C upstream_gene_variant PACA-CA 22 40297089 40297089 single base substitution G A 5_prime_UTR_variant PACA-CA 22 40297089 40297089 single base substitution G A upstream_gene_variant PACA-CA 22 40297335 40297335 single base substitution G A splice_donor_variant PACA-CA 22 40297799 40297799 single base substitution C A intron_variant PACA-CA 22 40298493 40298493 single base substitution C T intron_variant PACA-CA 22 40300249 40300249 single base substitution G A intron_variant PACA-CA 22 40303479 40303479 single base substitution C T intron_variant PACA-CA 22 40308925 40308925 single base substitution G A intron_variant PACA-CA 22 40309797 40309797 single base substitution A T intron_variant PACA-CA 22 40310608 40310608 single base substitution A T intron_variant PACA-CA 22 40310821 40310821 single base substitution C T intron_variant PACA-CA 22 40322636 40322636 single base substitution A G 5_prime_UTR_variant PACA-CA 22 40322636 40322636 single base substitution A G exon_variant PACA-CA 22 40322636 40322636 single base substitution A G intron_variant PACA-CA 22 40322636 40322636 single base substitution A G upstream_gene_variant PACA-CA 22 40323375 40323375 insertion of <=200bp - A intron_variant PACA-CA 22 40326549 40326549 single base substitution C T intron_variant PACA-CA 22 40326613 40326613 single base substitution G A intron_variant PACA-CA 22 40329493 40329493 single base substitution G T intron_variant PACA-CA 22 40331432 40331432 single base substitution G T intron_variant PACA-CA 22 40332648 40332648 single base substitution G C intron_variant PACA-CA 22 40332746 40332746 single base substitution G T intron_variant PACA-CA 22 40333303 40333303 single base substitution A G intron_variant PACA-CA 22 40335422 40335422 single base substitution C T intron_variant PACA-CA 22 40336345 40336345 single base substitution C T intron_variant PACA-CA 22 40340009 40340009 single base substitution G A intron_variant PACA-CA 22 40340009 40340009 single base substitution G A upstream_gene_variant PACA-CA 22 40345023 40345023 single base substitution C G downstream_gene_variant PACA-CA 22 40345023 40345023 single base substitution C G intron_variant PACA-CA 22 40345880 40345880 single base substitution T A downstream_gene_variant PACA-CA 22 40345880 40345880 single base substitution T A intron_variant PACA-CA 22 40347376 40347376 single base substitution C A downstream_gene_variant PACA-CA 22 40347376 40347376 single base substitution C A intron_variant PACA-CA 22 40353402 40353402 single base substitution C T intron_variant PACA-CA 22 40354181 40354181 single base substitution G A intron_variant PACA-CA 22 40354404 40354404 single base substitution C A intron_variant PACA-CA 22 40357045 40357045 single base substitution G A downstream_gene_variant PACA-CA 22 40357045 40357045 single base substitution G A intron_variant PACA-CA 22 40361520 40361520 single base substitution A G intron_variant PACA-CA 22 40361520 40361520 single base substitution A G upstream_gene_variant PACA-CA 22 40363544 40363544 single base substitution C T downstream_gene_variant PACA-CA 22 40363544 40363544 single base substitution C T intron_variant PACA-CA 22 40363544 40363544 single base substitution C T upstream_gene_variant PACA-CA 22 40365508 40365508 single base substitution A G downstream_gene_variant PACA-CA 22 40365508 40365508 single base substitution A G exon_variant PACA-CA 22 40365508 40365508 single base substitution A G missense_variant T149A 445A>G PACA-CA 22 40365508 40365508 single base substitution A G missense_variant T190A 568A>G PACA-CA 22 40365508 40365508 single base substitution A G missense_variant T196A 586A>G PACA-CA 22 40365508 40365508 single base substitution A G missense_variant T222A 664A>G PACA-CA 22 40365508 40365508 single base substitution A G missense_variant T262A 784A>G PACA-CA 22 40368221 40368221 single base substitution G A 3_prime_UTR_variant PACA-CA 22 40368221 40368221 single base substitution G A downstream_gene_variant PAEN-AU 22 40319268 40319268 single base substitution T A intron_variant PAEN-AU 22 40319268 40319268 single base substitution T A upstream_gene_variant PBCA-DE 22 40295833 40295833 insertion of <=200bp - A upstream_gene_variant PBCA-DE 22 40297234 40297234 single base substitution G C 5_prime_UTR_variant PBCA-DE 22 40298200 40298200 single base substitution C T intron_variant PBCA-DE 22 40302554 40302554 insertion of <=200bp - A intron_variant PBCA-DE 22 40306040 40306040 single base substitution A T intron_variant PBCA-DE 22 40314052 40314052 single base substitution T A intron_variant PBCA-DE 22 40323206 40323206 single base substitution C A intron_variant PBCA-DE 22 40328459 40328459 single base substitution A C intron_variant PBCA-DE 22 40330874 40330874 deletion of <=200bp A - intron_variant PBCA-DE 22 40338564 40338564 single base substitution G T intron_variant PBCA-DE 22 40338564 40338564 single base substitution G T upstream_gene_variant PBCA-DE 22 40338934 40338934 single base substitution G A intron_variant PBCA-DE 22 40338934 40338934 single base substitution G A upstream_gene_variant PBCA-DE 22 40341404 40341404 single base substitution T C intron_variant PBCA-DE 22 40341404 40341404 single base substitution T C upstream_gene_variant PBCA-DE 22 40342212 40342212 single base substitution A G intron_variant PBCA-DE 22 40342212 40342212 single base substitution A G upstream_gene_variant PBCA-DE 22 40344043 40344043 single base substitution A G exon_variant PBCA-DE 22 40344043 40344043 single base substitution A G intron_variant PBCA-DE 22 40347816 40347816 single base substitution A T downstream_gene_variant PBCA-DE 22 40347816 40347816 single base substitution A T intron_variant PBCA-DE 22 40350442 40350442 single base substitution C T intron_variant PBCA-DE 22 40363183 40363183 single base substitution C A downstream_gene_variant PBCA-DE 22 40363183 40363183 single base substitution C A intron_variant PBCA-DE 22 40363183 40363183 single base substitution C A upstream_gene_variant PBCA-DE 22 40364463 40364464 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 22 40364463 40364464 deletion of <=200bp AC - exon_variant PBCA-DE 22 40364463 40364464 deletion of <=200bp AC - intron_variant PBCA-DE 22 40364463 40364464 deletion of <=200bp AC - upstream_gene_variant PBCA-DE 22 40368309 40368309 single base substitution C T 3_prime_UTR_variant PBCA-DE 22 40368309 40368309 single base substitution C T downstream_gene_variant PBCA-DE 22 40369807 40369807 single base substitution A C downstream_gene_variant PBCA-DE 22 40371876 40371876 single base substitution G T downstream_gene_variant PRAD-CA 22 40298470 40298470 single base substitution T G intron_variant PRAD-CA 22 40316240 40316240 single base substitution C G intron_variant PRAD-CA 22 40316866 40316866 single base substitution T A intron_variant PRAD-CA 22 40364815 40364815 single base substitution C G downstream_gene_variant PRAD-CA 22 40364815 40364815 single base substitution C G intron_variant PRAD-CA 22 40364815 40364815 single base substitution C G upstream_gene_variant PRAD-UK 22 40309346 40309346 single base substitution G A intron_variant PRAD-UK 22 40320354 40320354 single base substitution T G intron_variant PRAD-UK 22 40320354 40320354 single base substitution T G upstream_gene_variant PRAD-UK 22 40325454 40325454 single base substitution A G intron_variant PRAD-UK 22 40328693 40328693 single base substitution G T intron_variant PRAD-UK 22 40364815 40364815 single base substitution C G downstream_gene_variant PRAD-UK 22 40364815 40364815 single base substitution C G intron_variant PRAD-UK 22 40364815 40364815 single base substitution C G upstream_gene_variant PRAD-UK 22 40369992 40369992 single base substitution C T downstream_gene_variant READ-US 22 40362114 40362114 single base substitution C T downstream_gene_variant READ-US 22 40362114 40362114 single base substitution C T exon_variant READ-US 22 40362114 40362114 single base substitution C T intron_variant READ-US 22 40362114 40362114 single base substitution C T synonymous_variant I137I 411C>T READ-US 22 40362114 40362114 single base substitution C T synonymous_variant I65I 195C>T READ-US 22 40362114 40362114 single base substitution C T synonymous_variant I71I 213C>T READ-US 22 40362114 40362114 single base substitution C T synonymous_variant I97I 291C>T READ-US 22 40362114 40362114 single base substitution C T upstream_gene_variant READ-US 22 40364247 40364247 single base substitution C T downstream_gene_variant READ-US 22 40364247 40364247 single base substitution C T exon_variant READ-US 22 40364247 40364247 single base substitution C T stop_gained R108* 322C>T READ-US 22 40364247 40364247 single base substitution C T stop_gained R149* 445C>T READ-US 22 40364247 40364247 single base substitution C T stop_gained R155* 463C>T READ-US 22 40364247 40364247 single base substitution C T stop_gained R181* 541C>T READ-US 22 40364247 40364247 single base substitution C T stop_gained R221* 661C>T READ-US 22 40364247 40364247 single base substitution C T upstream_gene_variant RECA-EU 22 40294398 40294398 single base substitution T G upstream_gene_variant RECA-EU 22 40295167 40295167 single base substitution C A upstream_gene_variant RECA-EU 22 40296828 40296828 single base substitution T C upstream_gene_variant RECA-EU 22 40303306 40303306 single base substitution C A intron_variant RECA-EU 22 40305616 40305616 single base substitution C A intron_variant RECA-EU 22 40312353 40312353 single base substitution C A intron_variant RECA-EU 22 40315135 40315135 single base substitution G C intron_variant RECA-EU 22 40318563 40318563 single base substitution A G intron_variant RECA-EU 22 40318563 40318563 single base substitution A G upstream_gene_variant RECA-EU 22 40330991 40330991 single base substitution C A intron_variant RECA-EU 22 40331251 40331251 single base substitution A C intron_variant RECA-EU 22 40336868 40336868 single base substitution G A intron_variant RECA-EU 22 40341592 40341592 single base substitution T A intron_variant RECA-EU 22 40341592 40341592 single base substitution T A upstream_gene_variant RECA-EU 22 40345171 40345171 single base substitution A G downstream_gene_variant RECA-EU 22 40345171 40345171 single base substitution A G intron_variant RECA-EU 22 40351249 40351249 single base substitution C T intron_variant RECA-EU 22 40353014 40353014 single base substitution T C intron_variant RECA-EU 22 40357131 40357131 single base substitution A G downstream_gene_variant RECA-EU 22 40357131 40357131 single base substitution A G intron_variant RECA-EU 22 40357131 40357131 single base substitution A G upstream_gene_variant RECA-EU 22 40359616 40359616 single base substitution C A downstream_gene_variant RECA-EU 22 40359616 40359616 single base substitution C A intron_variant RECA-EU 22 40359616 40359616 single base substitution C A upstream_gene_variant RECA-EU 22 40370208 40370208 single base substitution T G downstream_gene_variant SKCA-BR 22 40293995 40293995 single base substitution G A upstream_gene_variant SKCA-BR 22 40294886 40294886 single base substitution G A upstream_gene_variant SKCA-BR 22 40294887 40294887 single base substitution G A upstream_gene_variant SKCA-BR 22 40295362 40295362 single base substitution C T upstream_gene_variant SKCA-BR 22 40295971 40295971 single base substitution G A upstream_gene_variant SKCA-BR 22 40298200 40298200 single base substitution C T intron_variant SKCA-BR 22 40298851 40298851 single base substitution G A intron_variant SKCA-BR 22 40299803 40299803 single base substitution A G intron_variant SKCA-BR 22 40300035 40300035 single base substitution G A intron_variant SKCA-BR 22 40300578 40300578 single base substitution C T intron_variant SKCA-BR 22 40307962 40307962 single base substitution G A intron_variant SKCA-BR 22 40308106 40308106 single base substitution T C intron_variant SKCA-BR 22 40308816 40308816 single base substitution A G intron_variant SKCA-BR 22 40310492 40310492 single base substitution C T intron_variant SKCA-BR 22 40313069 40313069 single base substitution C T intron_variant SKCA-BR 22 40313163 40313163 insertion of <=200bp - AT intron_variant SKCA-BR 22 40314530 40314530 single base substitution C T intron_variant SKCA-BR 22 40316298 40316298 single base substitution G A intron_variant SKCA-BR 22 40317060 40317060 single base substitution G A intron_variant SKCA-BR 22 40317635 40317635 single base substitution G A intron_variant SKCA-BR 22 40317635 40317635 single base substitution G A upstream_gene_variant SKCA-BR 22 40319043 40319043 insertion of <=200bp - TA intron_variant SKCA-BR 22 40319043 40319043 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 22 40319761 40319761 single base substitution G A intron_variant SKCA-BR 22 40319761 40319761 single base substitution G A upstream_gene_variant SKCA-BR 22 40321069 40321069 single base substitution T G intron_variant SKCA-BR 22 40321069 40321069 single base substitution T G upstream_gene_variant SKCA-BR 22 40321074 40321074 single base substitution A G intron_variant SKCA-BR 22 40321074 40321074 single base substitution A G upstream_gene_variant SKCA-BR 22 40322791 40322791 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 22 40322791 40322791 single base substitution C T exon_variant SKCA-BR 22 40322791 40322791 single base substitution C T intron_variant SKCA-BR 22 40323957 40323957 single base substitution G A intron_variant SKCA-BR 22 40326841 40326841 single base substitution T G intron_variant SKCA-BR 22 40328080 40328080 single base substitution C T intron_variant SKCA-BR 22 40328081 40328081 single base substitution C T intron_variant SKCA-BR 22 40328843 40328843 single base substitution T G intron_variant SKCA-BR 22 40330786 40330786 single base substitution G A intron_variant SKCA-BR 22 40331224 40331224 single base substitution C T intron_variant SKCA-BR 22 40336496 40336496 single base substitution C T intron_variant SKCA-BR 22 40336648 40336648 single base substitution G A intron_variant SKCA-BR 22 40337921 40337921 single base substitution G A intron_variant SKCA-BR 22 40337921 40337921 single base substitution G A upstream_gene_variant SKCA-BR 22 40346780 40346780 single base substitution G A downstream_gene_variant SKCA-BR 22 40346780 40346780 single base substitution G A intron_variant SKCA-BR 22 40347851 40347851 single base substitution C T downstream_gene_variant SKCA-BR 22 40347851 40347851 single base substitution C T intron_variant SKCA-BR 22 40350748 40350748 single base substitution A T intron_variant SKCA-BR 22 40354135 40354135 single base substitution G A intron_variant SKCA-BR 22 40362511 40362511 single base substitution T A downstream_gene_variant SKCA-BR 22 40362511 40362511 single base substitution T A intron_variant SKCA-BR 22 40362511 40362511 single base substitution T A upstream_gene_variant SKCA-BR 22 40364185 40364185 single base substitution A C downstream_gene_variant SKCA-BR 22 40364185 40364185 single base substitution A C exon_variant SKCA-BR 22 40364185 40364185 single base substitution A C missense_variant H128P 383A>C SKCA-BR 22 40364185 40364185 single base substitution A C missense_variant H134P 401A>C SKCA-BR 22 40364185 40364185 single base substitution A C missense_variant H160P 479A>C SKCA-BR 22 40364185 40364185 single base substitution A C missense_variant H200P 599A>C SKCA-BR 22 40364185 40364185 single base substitution A C missense_variant H87P 260A>C SKCA-BR 22 40364185 40364185 single base substitution A C upstream_gene_variant SKCA-BR 22 40364462 40364464 deletion of <=200bp AAC - downstream_gene_variant SKCA-BR 22 40364462 40364464 deletion of <=200bp AAC - exon_variant SKCA-BR 22 40364462 40364464 deletion of <=200bp AAC - intron_variant SKCA-BR 22 40364462 40364464 deletion of <=200bp AAC - upstream_gene_variant SKCA-BR 22 40365569 40365569 single base substitution G A downstream_gene_variant SKCA-BR 22 40365569 40365569 single base substitution G A intron_variant SKCA-BR 22 40367618 40367618 single base substitution G T 3_prime_UTR_variant SKCA-BR 22 40367618 40367618 single base substitution G T downstream_gene_variant SKCA-BR 22 40367796 40367796 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 40367796 40367796 single base substitution C T downstream_gene_variant SKCA-BR 22 40369271 40369271 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 40369271 40369271 single base substitution C T downstream_gene_variant SKCA-BR 22 40369975 40369975 single base substitution A C downstream_gene_variant SKCA-BR 22 40371071 40371071 single base substitution C T downstream_gene_variant SKCA-BR 22 40371072 40371072 single base substitution C T downstream_gene_variant SKCA-BR 22 40371461 40371461 single base substitution C G downstream_gene_variant SKCA-BR 22 40371712 40371712 single base substitution G A downstream_gene_variant SKCA-BR 22 40371903 40371903 single base substitution C T downstream_gene_variant SKCA-BR 22 40373096 40373096 single base substitution G A downstream_gene_variant SKCA-BR 22 40374669 40374672 deletion of <=200bp ATAT - downstream_gene_variant SKCM-US 22 40343132 40343132 single base substitution G A 5_prime_UTR_variant SKCM-US 22 40343132 40343132 single base substitution G A exon_variant SKCM-US 22 40343132 40343132 single base substitution G A intron_variant SKCM-US 22 40343132 40343132 single base substitution G A missense_variant D8N 22G>A SKCM-US 22 40351840 40351840 single base substitution G A exon_variant SKCM-US 22 40351840 40351840 single base substitution G A intron_variant SKCM-US 22 40351840 40351840 single base substitution G A synonymous_variant E32E 96G>A SKCM-US 22 40351845 40351845 single base substitution G A exon_variant SKCM-US 22 40351845 40351845 single base substitution G A intron_variant SKCM-US 22 40351845 40351845 single base substitution G A stop_gained W34* 101G>A SKCM-US 22 40351847 40351847 single base substitution T C exon_variant SKCM-US 22 40351847 40351847 single base substitution T C intron_variant SKCM-US 22 40351847 40351847 single base substitution T C missense_variant F35L 103T>C SKCM-US 22 40356158 40356158 single base substitution G A exon_variant SKCM-US 22 40356158 40356158 single base substitution G A intron_variant SKCM-US 22 40356158 40356158 single base substitution G A missense_variant G34R 100G>A SKCM-US 22 40356158 40356158 single base substitution G A synonymous_variant G18G 54G>A SKCM-US 22 40356158 40356158 single base substitution G A synonymous_variant G90G 270G>A SKCM-US 22 40362043 40362043 single base substitution A G exon_variant SKCM-US 22 40362043 40362043 single base substitution A G intron_variant SKCM-US 22 40362043 40362043 single base substitution A G missense_variant N114D 340A>G SKCM-US 22 40362043 40362043 single base substitution A G missense_variant N42D 124A>G SKCM-US 22 40362043 40362043 single base substitution A G missense_variant N48D 142A>G SKCM-US 22 40362043 40362043 single base substitution A G missense_variant N74D 220A>G SKCM-US 22 40362043 40362043 single base substitution A G upstream_gene_variant SKCM-US 22 40362074 40362074 single base substitution C T exon_variant SKCM-US 22 40362074 40362074 single base substitution C T intron_variant SKCM-US 22 40362074 40362074 single base substitution C T missense_variant S124F 371C>T SKCM-US 22 40362074 40362074 single base substitution C T missense_variant S52F 155C>T SKCM-US 22 40362074 40362074 single base substitution C T missense_variant S58F 173C>T SKCM-US 22 40362074 40362074 single base substitution C T missense_variant S84F 251C>T SKCM-US 22 40362074 40362074 single base substitution C T upstream_gene_variant SKCM-US 22 40364148 40364148 single base substitution G A downstream_gene_variant SKCM-US 22 40364148 40364148 single base substitution G A exon_variant SKCM-US 22 40364148 40364148 single base substitution G A missense_variant D116N 346G>A SKCM-US 22 40364148 40364148 single base substitution G A missense_variant D122N 364G>A SKCM-US 22 40364148 40364148 single base substitution G A missense_variant D148N 442G>A SKCM-US 22 40364148 40364148 single base substitution G A missense_variant D188N 562G>A SKCM-US 22 40364148 40364148 single base substitution G A missense_variant D75N 223G>A SKCM-US 22 40364148 40364148 single base substitution G A upstream_gene_variant SKCM-US 22 40364204 40364204 single base substitution A C downstream_gene_variant SKCM-US 22 40364204 40364204 single base substitution A C exon_variant SKCM-US 22 40364204 40364204 single base substitution A C missense_variant Q134H 402A>C SKCM-US 22 40364204 40364204 single base substitution A C missense_variant Q140H 420A>C SKCM-US 22 40364204 40364204 single base substitution A C missense_variant Q166H 498A>C SKCM-US 22 40364204 40364204 single base substitution A C missense_variant Q206H 618A>C SKCM-US 22 40364204 40364204 single base substitution A C missense_variant Q93H 279A>C SKCM-US 22 40364204 40364204 single base substitution A C upstream_gene_variant SKCM-US 22 40366957 40366957 single base substitution G T downstream_gene_variant SKCM-US 22 40366957 40366957 single base substitution G T exon_variant SKCM-US 22 40366957 40366957 single base substitution G T missense_variant D175Y 523G>T SKCM-US 22 40366957 40366957 single base substitution G T missense_variant D216Y 646G>T SKCM-US 22 40366957 40366957 single base substitution G T missense_variant D222Y 664G>T SKCM-US 22 40366957 40366957 single base substitution G T missense_variant D288Y 862G>T SKCM-US 22 40366957 40366957 single base substitution G T splice_region_variant SKCM-US 22 40367082 40367082 single base substitution C T downstream_gene_variant SKCM-US 22 40367082 40367082 single base substitution C T exon_variant SKCM-US 22 40367082 40367082 single base substitution C T synonymous_variant T216T 648C>T SKCM-US 22 40367082 40367082 single base substitution C T synonymous_variant T257T 771C>T SKCM-US 22 40367082 40367082 single base substitution C T synonymous_variant T263T 789C>T SKCM-US 22 40367082 40367082 single base substitution C T synonymous_variant T277T 831C>T SKCM-US 22 40367082 40367082 single base substitution C T synonymous_variant T329T 987C>T STAD-US 22 40351855 40351855 single base substitution G A exon_variant STAD-US 22 40351855 40351855 single base substitution G A intron_variant STAD-US 22 40351855 40351855 single base substitution G A synonymous_variant A37A 111G>A STAD-US 22 40364053 40364053 single base substitution G A downstream_gene_variant STAD-US 22 40364053 40364053 single base substitution G A exon_variant STAD-US 22 40364053 40364053 single base substitution G A missense_variant R116Q 347G>A STAD-US 22 40364053 40364053 single base substitution G A missense_variant R156Q 467G>A STAD-US 22 40364053 40364053 single base substitution G A missense_variant R43Q 128G>A STAD-US 22 40364053 40364053 single base substitution G A missense_variant R84Q 251G>A STAD-US 22 40364053 40364053 single base substitution G A missense_variant R90Q 269G>A STAD-US 22 40364053 40364053 single base substitution G A upstream_gene_variant STAD-US 22 40365422 40365422 single base substitution G T downstream_gene_variant STAD-US 22 40365422 40365422 single base substitution G T exon_variant STAD-US 22 40365422 40365422 single base substitution G T missense_variant R120L 359G>T STAD-US 22 40365422 40365422 single base substitution G T missense_variant R161L 482G>T STAD-US 22 40365422 40365422 single base substitution G T missense_variant R167L 500G>T STAD-US 22 40365422 40365422 single base substitution G T missense_variant R193L 578G>T STAD-US 22 40365422 40365422 single base substitution G T missense_variant R233L 698G>T STAD-US 22 40365499 40365499 single base substitution C T downstream_gene_variant STAD-US 22 40365499 40365499 single base substitution C T exon_variant STAD-US 22 40365499 40365499 single base substitution C T missense_variant R146W 436C>T STAD-US 22 40365499 40365499 single base substitution C T missense_variant R187W 559C>T STAD-US 22 40365499 40365499 single base substitution C T missense_variant R193W 577C>T STAD-US 22 40365499 40365499 single base substitution C T missense_variant R219W 655C>T STAD-US 22 40365499 40365499 single base substitution C T missense_variant R259W 775C>T STAD-US 22 40365500 40365500 single base substitution G A downstream_gene_variant STAD-US 22 40365500 40365500 single base substitution G A exon_variant STAD-US 22 40365500 40365500 single base substitution G A missense_variant R146Q 437G>A STAD-US 22 40365500 40365500 single base substitution G A missense_variant R187Q 560G>A STAD-US 22 40365500 40365500 single base substitution G A missense_variant R193Q 578G>A STAD-US 22 40365500 40365500 single base substitution G A missense_variant R219Q 656G>A STAD-US 22 40365500 40365500 single base substitution G A missense_variant R259Q 776G>A STAD-US 22 40366977 40366977 single base substitution C T downstream_gene_variant STAD-US 22 40366977 40366977 single base substitution C T exon_variant STAD-US 22 40366977 40366977 single base substitution C T intron_variant STAD-US 22 40366977 40366977 single base substitution C T synonymous_variant S181S 543C>T STAD-US 22 40366977 40366977 single base substitution C T synonymous_variant S222S 666C>T STAD-US 22 40366977 40366977 single base substitution C T synonymous_variant S228S 684C>T STAD-US 22 40366977 40366977 single base substitution C T synonymous_variant S294S 882C>T UCEC-US 22 40356158 40356158 single base substitution G A exon_variant UCEC-US 22 40356158 40356158 single base substitution G A intron_variant UCEC-US 22 40356158 40356158 single base substitution G A missense_variant G34R 100G>A UCEC-US 22 40356158 40356158 single base substitution G A synonymous_variant G18G 54G>A UCEC-US 22 40356158 40356158 single base substitution G A synonymous_variant G90G 270G>A UCEC-US 22 40362132 40362132 single base substitution C A downstream_gene_variant UCEC-US 22 40362132 40362132 single base substitution C A exon_variant UCEC-US 22 40362132 40362132 single base substitution C A intron_variant UCEC-US 22 40362132 40362132 single base substitution C A synonymous_variant I103I 309C>A UCEC-US 22 40362132 40362132 single base substitution C A synonymous_variant I143I 429C>A UCEC-US 22 40362132 40362132 single base substitution C A synonymous_variant I71I 213C>A UCEC-US 22 40362132 40362132 single base substitution C A synonymous_variant I77I 231C>A UCEC-US 22 40362132 40362132 single base substitution C A upstream_gene_variant UCEC-US 22 40364129 40364129 single base substitution G A downstream_gene_variant UCEC-US 22 40364129 40364129 single base substitution G A exon_variant UCEC-US 22 40364129 40364129 single base substitution G A synonymous_variant S109S 327G>A UCEC-US 22 40364129 40364129 single base substitution G A synonymous_variant S115S 345G>A UCEC-US 22 40364129 40364129 single base substitution G A synonymous_variant S141S 423G>A UCEC-US 22 40364129 40364129 single base substitution G A synonymous_variant S181S 543G>A UCEC-US 22 40364129 40364129 single base substitution G A synonymous_variant S68S 204G>A UCEC-US 22 40364129 40364129 single base substitution G A upstream_gene_variant UCEC-US 22 40364147 40364147 single base substitution G A downstream_gene_variant UCEC-US 22 40364147 40364147 single base substitution G A exon_variant UCEC-US 22 40364147 40364147 single base substitution G A synonymous_variant S115S 345G>A UCEC-US 22 40364147 40364147 single base substitution G A synonymous_variant S121S 363G>A UCEC-US 22 40364147 40364147 single base substitution G A synonymous_variant S147S 441G>A UCEC-US 22 40364147 40364147 single base substitution G A synonymous_variant S187S 561G>A UCEC-US 22 40364147 40364147 single base substitution G A synonymous_variant S74S 222G>A UCEC-US 22 40364147 40364147 single base substitution G A upstream_gene_variant UCEC-US 22 40364189 40364189 single base substitution G A downstream_gene_variant UCEC-US 22 40364189 40364189 single base substitution G A exon_variant UCEC-US 22 40364189 40364189 single base substitution G A synonymous_variant Q129Q 387G>A UCEC-US 22 40364189 40364189 single base substitution G A synonymous_variant Q135Q 405G>A UCEC-US 22 40364189 40364189 single base substitution G A synonymous_variant Q161Q 483G>A UCEC-US 22 40364189 40364189 single base substitution G A synonymous_variant Q201Q 603G>A UCEC-US 22 40364189 40364189 single base substitution G A synonymous_variant Q88Q 264G>A UCEC-US 22 40364189 40364189 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A3JD-06 COSM4393850 c.987C>T p.T329T Substitution - coding silent 22:39971078-39971078 + TCGA-CD-8536-01 COSM4104339 c.467G>A p.R156Q Substitution - Missense 22:39968049-39968049 + LUAD-S01413 COSM347210 c.324G>T p.M108I Substitution - Missense 22:39966023-39966023 + SNUH_G15_S1 COSM3681447 c.242T>C p.I81T Substitution - Missense 22:39960126-39960126 + tumor_4116738 COSM1161428 c.354G>C p.W118C Substitution - Missense 22:39966053-39966053 + CSCC-35-T COSM4525263 c.131G>A p.G44E Substitution - Missense 22:39955871-39955871 + PCSI_0083_Pa_P_526 COSM3785557 c.784A>G p.T262A Substitution - Missense 22:39969504-39969504 + TCGA-BS-A0UV-01 COSM1034335 c.429C>A p.I143I Substitution - coding silent 22:39966128-39966128 + YUOTHO COSM5393691 c.238T>A p.F80I Substitution - Missense 22:39960122-39960122 + 8066464 COSM3785675 c.956T>A p.L319H Substitution - Missense 22:39971047-39971047 + PCSI_0083_Pa_X COSM3785557 c.784A>G p.T262A Substitution - Missense 22:39969504-39969504 + ESCC_143 COSM3785557 c.784A>G p.T262A Substitution - Missense 22:39969504-39969504 + CHC892T COSM4961003 c.399G>A p.R133R Substitution - coding silent 22:39966098-39966098 + TCGA-F5-6814-01 COSM3424191 c.661C>T p.R221* Substitution - Nonsense 22:39968243-39968243 + TCGA-D7-8572-01 COSM4104345 c.776G>A p.R259Q Substitution - Missense 22:39969496-39969496 + TCGA-B5-A11Y-01 COSM1034337 c.561G>A p.S187S Substitution - coding silent 22:39968143-39968143 + TCGA-B0-5085-01 COSM478988 c.47A>T p.E16V Substitution - Missense 22:39947153-39947153 + 416 COSM3152485 c.867G>A p.E289E Substitution - coding silent 22:39970958-39970958 + HT115 COSM4299996 c.630G>A p.A210A Substitution - coding silent 22:39968212-39968212 + 2497776 COSM5750653 c.690G>T p.Q230H Substitution - Missense 22:39968272-39968272 + 8065697 COSM3390250 c.67G>T p.D23Y Substitution - Missense 22:39947173-39947173 + 472 COSM4437986 c.573G>A p.P191P Substitution - coding silent 22:39968155-39968155 + TCGA-BR-4184-01 COSM4104341 c.698G>T p.R233L Substitution - Missense 22:39969418-39969418 + TCGA-EE-A20C-06 COSM3554772 c.103T>C p.F35L Substitution - Missense 22:39955843-39955843 + TCGA-DD-A4NV-01 COSM4916438 c.821G>A p.R274Q Substitution - Missense 22:39970912-39970912 + ML_79_T_01 COSM5038426 c.599A>C p.H200P Substitution - Missense 22:39968181-39968181 + TCGA-DD-A114-01 COSM4925464 c.32C>A p.A11D Substitution - Missense 22:39947138-39947138 + TCGA-B5-A0JY-01 COSM1034338 c.603G>A p.Q201Q Substitution - coding silent 22:39968185-39968185 + YUSIV COSM1034336 c.543G>A p.S181S Substitution - coding silent 22:39968125-39968125 + TCGA-BR-8680-01 COSM4104343 c.775C>T p.R259W Substitution - Missense 22:39969495-39969495 + 2492721 COSM5723266 c.921C>T p.S307S Substitution - coding silent 22:39971012-39971012 + TCGA-OL-A5RW-01 COSM3842731 c.486G>C p.R162R Substitution - coding silent 22:39968068-39968068 + TCGA-EB-A5SG-06 COSM3912869 c.862G>T p.D288Y Substitution - Missense 22:39970953-39970953 + TCGA-D3-A2JH-06 COSM1034333 c.270G>A p.G90G Substitution - coding silent 22:39960154-39960154 + TCGA-EB-A44O-01 COSM3554770 c.22G>A p.D8N Substitution - Missense 22:39947128-39947128 + Pat_14_A COSM5859425 c.273C>A p.D91E Substitution - Missense 22:39960157-39960157 + CHC892T COSM4961003 c.399G>A p.R133R Substitution - coding silent 22:39966098-39966098 + TCGA-EB-A431-01 COSM3554774 c.562G>A p.D188N Substitution - Missense 22:39968144-39968144 + TCGA-F5-6814-01 COSM3424190 c.411C>T p.I137I Substitution - coding silent 22:39966110-39966110 + TCGA-GN-A26C-01 COSM3554771 c.101G>A p.W34* Substitution - Nonsense 22:39955841-39955841 + sysucc-1370T COSM5471509 c.625C>A p.P209T Substitution - Missense 22:39968207-39968207 + TCGA-FP-A4BE-01 COSM4104338 c.111G>A p.A37A Substitution - coding silent 22:39955851-39955851 + YUKAT COSM5393692 c.456C>T p.D152D Substitution - coding silent 22:39966155-39966155 + Gp5D COSM3152469 c.200A>G p.Q67R Substitution - Missense 22:39960084-39960084 + TCGA-FW-A3R5-06 COSM3912868 c.96G>A p.E32E Substitution - coding silent 22:39955836-39955836 + pfg043T COSM4753432 c.434T>C p.L145P Substitution - Missense 22:39966133-39966133 + TCGA-DK-A2I1-01 COSM1308191 c.75G>C p.L25F Substitution - Missense 22:39947181-39947181 + 345973 COSM3726751 c.108G>C p.K36N Substitution - Missense 22:39955848-39955848 + S02241 COSM5676864 c.878A>T p.H293L Substitution - Missense 22:39970969-39970969 + 2492720 COSM5723266 c.921C>T p.S307S Substitution - coding silent 22:39971012-39971012 + TCGA-DK-A1AC-01 COSM1308190 c.46G>A p.E16K Substitution - Missense 22:39947152-39947152 + Gp2D COSM3152469 c.200A>G p.Q67R Substitution - Missense 22:39960084-39960084 + TCGA-AG-A002-01 COSM261183 c.144G>T p.K48N Substitution - Missense 22:39955884-39955884 + 11M COSM5576686 c.789C>T p.D263D Substitution - coding silent 22:39969509-39969509 + TCGA-EE-A29M-06 COSM3554773 c.371C>T p.S124F Substitution - Missense 22:39966070-39966070 + 388 COSM98280 c.614C>T p.P205L Substitution - Missense 22:39968196-39968196 + 388 COSM98280 c.614C>T p.P205L Substitution - Missense 22:39968196-39968196 + TCGA-AC-A23H-01 COSM3842730 c.144G>C p.K48N Substitution - Missense 22:39955884-39955884 + TCGA-A5-A0G9-01 COSM1034334 c.320T>A p.V107D Substitution - Missense 22:39966019-39966019 + TCGA-B5-A0JY-01 COSM1034333 c.270G>A p.G90G Substitution - coding silent 22:39960154-39960154 + Br13X COSM41058 c.910T>C p.S304P Substitution - Missense 22:39971001-39971001 + 2492723 COSM5723266 c.921C>T p.S307S Substitution - coding silent 22:39971012-39971012 + TCGA-D9-A6EC-06 COSM4400852 c.340A>G p.N114D Substitution - Missense 22:39966039-39966039 + CSCC-35-T COSM4454655 c.548A>G p.N183S Substitution - Missense 22:39968130-39968130 + BK0100 COSM4189149 c.358G>T p.E120* Substitution - Nonsense 22:39966057-39966057 + TCGA-A8-A08F-01 COSM445023 c.827C>G p.A276G Substitution - Missense 22:39970918-39970918 + TCGA-AP-A0LM-01 COSM1034336 c.543G>A p.S181S Substitution - coding silent 22:39968125-39968125 + TCGA-AZ-4315-01 COSM3694066 c.207G>A p.E69E Substitution - coding silent 22:39960091-39960091 + TCGA-AG-A002-01 COSM187305 c.207G>T p.E69D Substitution - Missense 22:39960091-39960091 + T3049 COSM4688399 c.826G>A p.A276T Substitution - Missense 22:39970917-39970917 + ESCC-191T COSM3939657 c.193C>T p.R65* Substitution - Nonsense 22:39960077-39960077 + 2492722 COSM5723266 c.921C>T p.S307S Substitution - coding silent 22:39971012-39971012 + LAU63 COSM234765 c.408C>T p.S136S Substitution - coding silent 22:39966107-39966107 + LP6007600 COSM3152472 c.303C>T p.D101D Substitution - coding silent 22:39966002-39966002 + TCGA-22-4613-01 COSM726245 c.934C>A p.R312S Substitution - Missense 22:39971025-39971025 + LUAD-S01373 COSM388161 c.761C>T p.A254V Substitution - Missense 22:39969481-39969481 + TCGA-HE-A5NK-01 COSM4908473 c.972C>T p.Y324Y Substitution - coding silent 22:39971063-39971063 + TCGA-41-2575-01 COSM3748172 c.608A>C p.Q203P Substitution - Missense 22:39968190-39968190 + TCGA-BR-4280-01 COSM4104347 c.882C>T p.S294S Substitution - coding silent 22:39970973-39970973 + TCGA-FS-A1ZW-06 COSM3554775 c.618A>C p.Q206H Substitution - Missense 22:39968200-39968200 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.517498;Hs.517499 22q13.2 604518

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q203P c.608A>C 22 40364194 GBM A C Missense p.Q206H c.618A>C 22 40364204 CM A T IntronicSNV . c.290+446A>T 22 40356624 HC A T Missense p.E16V c.47A>T 22 40343157 RCCC C A Missense p.Q42K c.124C>A 22 40351868 LUAD C A Missense p.R312S c.934C>A 22 40367029 LUSC C A Synonymous p.G247G c.741C>A 22 40365465 LUAD C G Missense p.A276G c.827C>G 22 40366922 BRCA C G Missense p.P190R c.569C>G 22 40364155 LUAD C G Missense p.P321A c.961C>G 22 40367056 LUAD C T IntronicSNV . c.291-1357C>T 22 40360637 CM C T IntronicSNV . c.291-1414C>T 22 40360580 CM C T IntronicSNV . c.690+54C>T 22 40364330 CM C T Missense p.L319F c.955C>T 22 40367050 LUAD C T Missense p.S124F c.371C>T 22 40362074 CM C T Synonymous p.I178I c.534C>T 22 40364120 CM C T Synonymous p.S294S c.882C>T 22 40366977 STAD C T Synonymous p.T329T c.987C>T 22 40367082 CM G A Missense p.R221Q c.662G>A 22 40364248 CM G A Nonsense p.W34* c.101G>A 22 40351845 CM G A Synonymous p.G90G c.270G>A 22 40356158 CM G A Synonymous p.S187S c.561G>A 22 40364147 UCEC G C Missense p.E251Q c.751G>C 22 40365475 CM G C Missense p.L25F c.75G>C 22 40343185 BLCA G C Missense p.W118C c.354G>C 22 40362057 DLBCL G T Missense p.M182I c.546G>T 22 40364132 HNSC G T Nonsense p.E296* c.886G>T 22 40366981 LUAD T C IntronicSNV . c.1-20397T>C 22 40322714 HC T C IntronicSNV . c.459+77T>C 22 40362239 NSCLC T C Missense p.F35L c.103T>C 22 40351847 CM T C Missense p.S304P c.910T>C 22 40367005 GBM