Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 204494650 204494650 + Missense_Mutation SNP A A T TCGA-FD-A6TI-01A-11D-A32B-08 TCGA-FD-A6TI-10A-01D-A329-08 g.chr1:204494650A>T c.4A>T c.(4-6)Aca>Tca p.T2S BLCA 1 204501325 204501325 + Silent SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr1:204501325C>G c.294C>G c.(292-294)ctC>ctG p.L98L BLCA 1 204511994 204511994 + Silent SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr1:204511994G>A c.594G>A c.(592-594)ctG>ctA p.L198L BLCA 1 204512018 204512018 + Missense_Mutation SNP G G C TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr1:204512018G>C c.618G>C c.(616-618)ttG>ttC p.L206F BRCA 1 204495552 204495553 + Frame_Shift_Del DEL CT CT - TCGA-D8-A1JK-01A-11D-A13L-09 TCGA-D8-A1JK-10A-01D-A13O-09 g.chr1:204495552_204495553delCT c.143_144delCT c.(142-144)actfs p.T48fs BRCA 1 204506608 204506608 + Missense_Mutation SNP A A T TCGA-GI-A2C8-01A-11D-A16D-09 TCGA-GI-A2C8-11A-22D-A16D-09 g.chr1:204506608A>T c.394A>T c.(394-396)Agt>Tgt p.S132C BRCA 1 204507346 204507346 + Missense_Mutation SNP G G A TCGA-E9-A1N4-01A-11D-A14K-09 TCGA-E9-A1N4-10A-01D-A14K-09 g.chr1:204507346G>A c.421G>A c.(421-423)Gag>Aag p.E141K BRCA 1 204513770 204513770 + Silent SNP T T G TCGA-AO-A0JM-01A-21W-A071-09 TCGA-AO-A0JM-10A-01W-A071-09 g.chr1:204513770T>G c.780T>G c.(778-780)acT>acG p.T260T COAD 1 204495547 204495547 + Missense_Mutation SNP G G T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:204495547G>T c.138G>T c.(136-138)atG>atT p.M46I COAD 1 204507405 204507405 + Silent SNP C C A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr1:204507405C>A c.480C>A c.(478-480)acC>acA p.T160T COAD 1 204512007 204512007 + Missense_Mutation SNP T T A TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr1:204512007T>A c.607T>A c.(607-609)Tta>Ata p.L203I COAD 1 204515953 204515953 + Missense_Mutation SNP T T C TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:204515953T>C c.851T>C c.(850-852)cTg>cCg p.L284P COAD 1 204515955 204515955 + Nonsense_Mutation SNP G G T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr1:204515955G>T c.853G>T c.(853-855)Gag>Tag p.E285* COAD 1 204518437 204518437 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:204518437C>T c.1100C>T c.(1099-1101)tCg>tTg p.S367L COAD 1 204518448 204518448 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:204518448G>A c.1111G>A c.(1111-1113)Gtt>Att p.V371I COADREAD 1 204495547 204495547 + Missense_Mutation SNP G G T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr1:204495547G>T c.138G>T c.(136-138)atG>atT p.M46I COADREAD 1 204507405 204507405 + Silent SNP C C A TCGA-D5-6529-01A-11D-1771-10 TCGA-D5-6529-10A-01D-1771-10 g.chr1:204507405C>A c.480C>A c.(478-480)acC>acA p.T160T COADREAD 1 204512007 204512007 + Missense_Mutation SNP T T A TCGA-A6-6782-01A-11D-1835-10 TCGA-A6-6782-10A-01D-1835-10 g.chr1:204512007T>A c.607T>A c.(607-609)Tta>Ata p.L203I COADREAD 1 204515953 204515953 + Missense_Mutation SNP T T C TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr1:204515953T>C c.851T>C c.(850-852)cTg>cCg p.L284P COADREAD 1 204515955 204515955 + Nonsense_Mutation SNP G G T TCGA-CM-5349-01A-21D-1719-10 TCGA-CM-5349-10A-01D-1719-10 g.chr1:204515955G>T c.853G>T c.(853-855)Gag>Tag p.E285* COADREAD 1 204518437 204518437 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204518437C>T c.1100C>T c.(1099-1101)tCg>tTg p.S367L COADREAD 1 204518437 204518437 + Missense_Mutation SNP C C T TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr1:204518437C>T c.1100C>T c.(1099-1101)tCg>tTg p.S367L COADREAD 1 204518448 204518448 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:204518448G>A c.1111G>A c.(1111-1113)Gtt>Att p.V371I ESCA 1 204515937 204515937 + Nonsense_Mutation SNP G G T TCGA-JY-A6F8-01A-11D-A33E-09 TCGA-JY-A6F8-10A-01D-A33H-09 g.chr1:204515937G>T c.835G>T c.(835-837)Gga>Tga p.G279* GBM 1 204507404 204507404 + Missense_Mutation SNP C C G TCGA-06-0129-01A-01D-1490-08 TCGA-06-0129-10A-01D-1490-08 g.chr1:204507404C>G c.479C>G c.(478-480)aCc>aGc p.T160S GBMLGG 1 204507404 204507404 + Missense_Mutation SNP C C G TCGA-06-0129-01A-01D-1490-08 TCGA-06-0129-10A-01D-1490-08 g.chr1:204507404C>G c.479C>G c.(478-480)aCc>aGc p.T160S GBMLGG 1 204518349 204518349 + Missense_Mutation SNP A A C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chr1:204518349A>C c.1012A>C c.(1012-1014)Acc>Ccc p.T338P HNSC 1 204518442 204518442 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:204518442C>T c.1105C>T c.(1105-1107)Cct>Tct p.P369S LGG 1 204518349 204518349 + Missense_Mutation SNP A A C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chr1:204518349A>C c.1012A>C c.(1012-1014)Acc>Ccc p.T338P LIHC 1 204513690 204513690 + Missense_Mutation SNP A A T TCGA-DD-AAVV-01A-11D-A40R-10 TCGA-DD-AAVV-10A-01D-A40U-10 g.chr1:204513690A>T c.700A>T c.(700-702)Act>Tct p.T234S LUAD 1 204495542 204495542 + Missense_Mutation SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 g.chr1:204495542G>A c.133G>A c.(133-135)Gaa>Aaa p.E45K LUAD 1 204506586 204506586 + Missense_Mutation SNP G G C TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr1:204506586G>C c.372G>C c.(370-372)caG>caC p.Q124H LUAD 1 204512011 204512011 + Missense_Mutation SNP G G T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr1:204512011G>T c.611G>T c.(610-612)gGa>gTa p.G204V LUAD 1 204513695 204513695 + Silent SNP A A T TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr1:204513695A>T c.705A>T c.(703-705)acA>acT p.T235T LUAD 1 204518288 204518288 + Missense_Mutation SNP G G T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr1:204518288G>T c.951G>T c.(949-951)aaG>aaT p.K317N LUSC 1 204507405 204507405 + Silent SNP C C A TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr1:204507405C>A c.480C>A c.(478-480)acC>acA p.T160T OV 1 204513713 204513713 + Missense_Mutation SNP G G C TCGA-23-2647-01A-01D-1526-09 TCGA-23-2647-10A-01D-1526-09 g.chr1:204513713G>C c.723G>C c.(721-723)ttG>ttC p.L241F OV 1 204515957 204515957 + Silent SNP G G A TCGA-09-2049-01D-01W-0799-08 TCGA-09-2049-10A-01W-0799-08 g.chr1:204515957G>A c.855G>A c.(853-855)gaG>gaA p.E285E PRAD 1 204513776 204513776 + Missense_Mutation SNP A A C TCGA-HC-8262-01A-11D-2260-08 TCGA-HC-8262-10A-01D-2260-08 g.chr1:204513776A>C c.786A>C c.(784-786)caA>caC p.Q262H READ 1 204518437 204518437 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204518437C>T c.1100C>T c.(1099-1101)tCg>tTg p.S367L SKCM 1 204501329 204501329 + Missense_Mutation SNP G G A TCGA-GN-A267-06A-21D-A196-08 TCGA-GN-A267-10A-01D-A198-08 g.chr1:204501329G>A c.298G>A c.(298-300)Gat>Aat p.D100N SKCM 1 204513760 204513760 + Missense_Mutation SNP C C T TCGA-EE-A3J3-06A-11D-A20D-08 TCGA-EE-A3J3-10A-01D-A20D-08 g.chr1:204513760C>T c.770C>T c.(769-771)gCt>gTt p.A257V SKCM 1 204518492 204518492 + Silent SNP T T A TCGA-ER-A19A-06A-21D-A197-08 TCGA-ER-A19A-10A-01D-A199-08 g.chr1:204518492T>A c.1155T>A c.(1153-1155)ctT>ctA p.L385L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 204507388 204507388 single base substitution A G downstream_gene_variant BLCA-CN 1 204507388 204507388 single base substitution A G exon_variant BLCA-CN 1 204507388 204507388 single base substitution A G intron_variant BLCA-CN 1 204507388 204507388 single base substitution A G missense_variant I155V 463A>G BLCA-CN 1 204507388 204507388 single base substitution A G missense_variant I40V 118A>G BLCA-CN 1 204507388 204507388 single base substitution A G missense_variant Y132C 395A>G BLCA-CN 1 204507388 204507388 single base substitution A G upstream_gene_variant BLCA-CN 1 204513617 204513617 single base substitution A G downstream_gene_variant BLCA-CN 1 204513617 204513617 single base substitution A G intron_variant BLCA-US 1 204501325 204501325 single base substitution C G exon_variant BLCA-US 1 204501325 204501325 single base substitution C G intron_variant BLCA-US 1 204501325 204501325 single base substitution C G synonymous_variant L98L 294C>G BLCA-US 1 204511994 204511994 single base substitution G A 3_prime_UTR_variant BLCA-US 1 204511994 204511994 single base substitution G A exon_variant BLCA-US 1 204511994 204511994 single base substitution G A intron_variant BLCA-US 1 204511994 204511994 single base substitution G A synonymous_variant L198L 594G>A BLCA-US 1 204511994 204511994 single base substitution G A synonymous_variant L26L 78G>A BLCA-US 1 204511994 204511994 single base substitution G A synonymous_variant L83L 249G>A BRCA-EU 1 204481931 204481931 single base substitution C T upstream_gene_variant BRCA-EU 1 204482108 204482108 single base substitution C T upstream_gene_variant BRCA-EU 1 204482168 204482168 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 204483254 204483254 single base substitution C T upstream_gene_variant BRCA-EU 1 204483282 204483282 single base substitution A T upstream_gene_variant BRCA-EU 1 204484578 204484578 single base substitution C A upstream_gene_variant BRCA-EU 1 204485801 204485801 single base substitution G A intron_variant BRCA-EU 1 204486000 204486000 single base substitution G T intron_variant BRCA-EU 1 204487183 204487183 single base substitution C G intron_variant BRCA-EU 1 204490941 204490941 single base substitution C T intron_variant BRCA-EU 1 204490941 204490941 single base substitution C T upstream_gene_variant BRCA-EU 1 204490964 204490964 single base substitution G T intron_variant BRCA-EU 1 204490964 204490964 single base substitution G T upstream_gene_variant BRCA-EU 1 204491311 204491311 single base substitution C G intron_variant BRCA-EU 1 204491311 204491311 single base substitution C G upstream_gene_variant BRCA-EU 1 204491545 204491545 single base substitution T G intron_variant BRCA-EU 1 204491545 204491545 single base substitution T G upstream_gene_variant BRCA-EU 1 204492107 204492107 single base substitution C T intron_variant BRCA-EU 1 204492107 204492107 single base substitution C T upstream_gene_variant BRCA-EU 1 204494001 204494002 deletion of <=200bp TG - intron_variant BRCA-EU 1 204494001 204494002 deletion of <=200bp TG - upstream_gene_variant BRCA-EU 1 204494395 204494395 single base substitution G A intron_variant BRCA-EU 1 204494395 204494395 single base substitution G A upstream_gene_variant BRCA-EU 1 204494571 204494571 single base substitution C G intron_variant BRCA-EU 1 204494571 204494571 single base substitution C G upstream_gene_variant BRCA-EU 1 204494757 204494757 single base substitution T G intron_variant BRCA-EU 1 204495143 204495143 single base substitution G A intron_variant BRCA-EU 1 204496886 204496886 single base substitution T A intron_variant BRCA-EU 1 204496952 204496952 single base substitution T C intron_variant BRCA-EU 1 204497275 204497275 deletion of <=200bp A - intron_variant BRCA-EU 1 204499269 204499269 single base substitution G A intron_variant BRCA-EU 1 204500006 204500006 single base substitution A G intron_variant BRCA-EU 1 204500755 204500755 single base substitution C T intron_variant BRCA-EU 1 204502231 204502231 single base substitution C G downstream_gene_variant BRCA-EU 1 204502231 204502231 single base substitution C G intron_variant BRCA-EU 1 204502231 204502231 single base substitution C G upstream_gene_variant BRCA-EU 1 204502579 204502579 single base substitution G A downstream_gene_variant BRCA-EU 1 204502579 204502579 single base substitution G A intron_variant BRCA-EU 1 204502579 204502579 single base substitution G A upstream_gene_variant BRCA-EU 1 204502804 204502804 single base substitution T C downstream_gene_variant BRCA-EU 1 204502804 204502804 single base substitution T C intron_variant BRCA-EU 1 204502804 204502804 single base substitution T C upstream_gene_variant BRCA-EU 1 204504920 204504920 single base substitution C T downstream_gene_variant BRCA-EU 1 204504920 204504920 single base substitution C T intron_variant BRCA-EU 1 204504920 204504920 single base substitution C T upstream_gene_variant BRCA-EU 1 204505616 204505616 single base substitution C G downstream_gene_variant BRCA-EU 1 204505616 204505616 single base substitution C G intron_variant BRCA-EU 1 204505616 204505616 single base substitution C G upstream_gene_variant BRCA-EU 1 204505669 204505669 single base substitution G C downstream_gene_variant BRCA-EU 1 204505669 204505669 single base substitution G C intron_variant BRCA-EU 1 204505669 204505669 single base substitution G C upstream_gene_variant BRCA-EU 1 204506229 204506229 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 204506229 204506229 deletion of <=200bp A - intron_variant BRCA-EU 1 204506229 204506229 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 204506323 204506323 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 204506323 204506323 deletion of <=200bp T - intron_variant BRCA-EU 1 204506323 204506323 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 204509777 204509777 single base substitution G C downstream_gene_variant BRCA-EU 1 204509777 204509777 single base substitution G C intron_variant BRCA-EU 1 204509777 204509777 single base substitution G C upstream_gene_variant BRCA-EU 1 204510281 204510285 deletion of <=200bp GGCTG - downstream_gene_variant BRCA-EU 1 204510281 204510285 deletion of <=200bp GGCTG - intron_variant BRCA-EU 1 204510281 204510285 deletion of <=200bp GGCTG - upstream_gene_variant BRCA-EU 1 204510753 204510753 single base substitution A G downstream_gene_variant BRCA-EU 1 204510753 204510753 single base substitution A G intron_variant BRCA-EU 1 204510753 204510753 single base substitution A G upstream_gene_variant BRCA-EU 1 204513691 204513691 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 204513691 204513691 single base substitution C T downstream_gene_variant BRCA-EU 1 204513691 204513691 single base substitution C T exon_variant BRCA-EU 1 204513691 204513691 single base substitution C T intron_variant BRCA-EU 1 204513691 204513691 single base substitution C T missense_variant T119I 356C>T BRCA-EU 1 204513691 204513691 single base substitution C T missense_variant T234I 701C>T BRCA-EU 1 204514545 204514545 single base substitution C G downstream_gene_variant BRCA-EU 1 204514545 204514545 single base substitution C G intron_variant BRCA-EU 1 204514668 204514678 deletion of <=200bp AAGGGATTTTC - downstream_gene_variant BRCA-EU 1 204514668 204514678 deletion of <=200bp AAGGGATTTTC - intron_variant BRCA-EU 1 204514720 204514720 single base substitution T C downstream_gene_variant BRCA-EU 1 204514720 204514720 single base substitution T C intron_variant BRCA-EU 1 204515141 204515141 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 204515141 204515141 insertion of <=200bp - T intron_variant BRCA-EU 1 204516086 204516086 single base substitution A T downstream_gene_variant BRCA-EU 1 204516086 204516086 single base substitution A T intron_variant BRCA-EU 1 204516151 204516151 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 204516151 204516151 deletion of <=200bp T - intron_variant BRCA-EU 1 204518141 204518141 single base substitution A G downstream_gene_variant BRCA-EU 1 204518141 204518141 single base substitution A G intron_variant BRCA-EU 1 204518161 204518161 single base substitution G A downstream_gene_variant BRCA-EU 1 204518161 204518161 single base substitution G A intron_variant BRCA-EU 1 204518190 204518190 single base substitution C T downstream_gene_variant BRCA-EU 1 204518190 204518190 single base substitution C T intron_variant BRCA-EU 1 204518316 204518316 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 204518316 204518316 single base substitution A C downstream_gene_variant BRCA-EU 1 204518316 204518316 single base substitution A C exon_variant BRCA-EU 1 204518316 204518316 single base substitution A C intron_variant BRCA-EU 1 204518316 204518316 single base substitution A C synonymous_variant R105R 313A>C BRCA-EU 1 204518316 204518316 single base substitution A C synonymous_variant R212R 634A>C BRCA-EU 1 204518316 204518316 single base substitution A C synonymous_variant R277R 829A>C BRCA-EU 1 204518316 204518316 single base substitution A C synonymous_variant R327R 979A>C BRCA-EU 1 204519804 204519804 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 204519804 204519804 single base substitution C T downstream_gene_variant BRCA-EU 1 204519804 204519804 single base substitution C T exon_variant BRCA-EU 1 204519804 204519804 single base substitution C T intron_variant BRCA-EU 1 204519952 204519952 single base substitution A T 3_prime_UTR_variant BRCA-EU 1 204519952 204519952 single base substitution A T downstream_gene_variant BRCA-EU 1 204519952 204519952 single base substitution A T exon_variant BRCA-EU 1 204519952 204519952 single base substitution A T intron_variant BRCA-EU 1 204520310 204520310 single base substitution A C 3_prime_UTR_variant BRCA-EU 1 204520310 204520310 single base substitution A C downstream_gene_variant BRCA-EU 1 204520310 204520310 single base substitution A C exon_variant BRCA-EU 1 204520310 204520310 single base substitution A C intron_variant BRCA-EU 1 204522281 204522281 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 204522281 204522281 single base substitution A G downstream_gene_variant BRCA-EU 1 204522281 204522281 single base substitution A G exon_variant BRCA-EU 1 204522281 204522281 single base substitution A G intron_variant BRCA-EU 1 204523235 204523235 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 204523235 204523235 single base substitution G C downstream_gene_variant BRCA-EU 1 204523235 204523235 single base substitution G C exon_variant BRCA-EU 1 204523235 204523235 single base substitution G C intron_variant BRCA-EU 1 204524408 204524408 single base substitution T G 3_prime_UTR_variant BRCA-EU 1 204524408 204524408 single base substitution T G downstream_gene_variant BRCA-EU 1 204524408 204524408 single base substitution T G intron_variant BRCA-EU 1 204524511 204524511 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 204524511 204524511 single base substitution G C downstream_gene_variant BRCA-EU 1 204524511 204524511 single base substitution G C intron_variant BRCA-EU 1 204524989 204524989 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 204524989 204524989 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 204524989 204524989 deletion of <=200bp A - intron_variant BRCA-EU 1 204525671 204525671 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 204525671 204525671 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 204525671 204525671 deletion of <=200bp A - intron_variant BRCA-EU 1 204525671 204525671 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 204525671 204525671 insertion of <=200bp - A downstream_gene_variant BRCA-EU 1 204525671 204525671 insertion of <=200bp - A intron_variant BRCA-EU 1 204525925 204525925 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 204525925 204525925 single base substitution G T downstream_gene_variant BRCA-EU 1 204525925 204525925 single base substitution G T intron_variant BRCA-EU 1 204525926 204525926 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 204525926 204525926 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 204525926 204525926 deletion of <=200bp T - intron_variant BRCA-EU 1 204526322 204526322 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 204526322 204526322 single base substitution G A downstream_gene_variant BRCA-EU 1 204526322 204526322 single base substitution G A intron_variant BRCA-EU 1 204526902 204526902 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 204526902 204526902 single base substitution T A downstream_gene_variant BRCA-EU 1 204526902 204526902 single base substitution T A intron_variant BRCA-EU 1 204527482 204527482 single base substitution C G downstream_gene_variant BRCA-EU 1 204527482 204527482 single base substitution C G intron_variant BRCA-EU 1 204527749 204527749 insertion of <=200bp - C downstream_gene_variant BRCA-EU 1 204527749 204527749 insertion of <=200bp - C intron_variant BRCA-EU 1 204528622 204528622 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 204528622 204528622 deletion of <=200bp T - intron_variant BRCA-EU 1 204528675 204528675 single base substitution G C downstream_gene_variant BRCA-EU 1 204528675 204528675 single base substitution G C intron_variant BRCA-EU 1 204530662 204530662 single base substitution A T downstream_gene_variant BRCA-EU 1 204530662 204530662 single base substitution A T intron_variant BRCA-EU 1 204530827 204530827 single base substitution T C downstream_gene_variant BRCA-EU 1 204530827 204530827 single base substitution T C intron_variant BRCA-EU 1 204530960 204530960 single base substitution C T downstream_gene_variant BRCA-EU 1 204530960 204530960 single base substitution C T intron_variant BRCA-EU 1 204531362 204531362 single base substitution C A downstream_gene_variant BRCA-EU 1 204531362 204531362 single base substitution C A intron_variant BRCA-EU 1 204531900 204531900 insertion of <=200bp - GG downstream_gene_variant BRCA-EU 1 204531900 204531900 insertion of <=200bp - GG intron_variant BRCA-EU 1 204532542 204532543 deletion of <=200bp GA - intron_variant BRCA-EU 1 204532671 204532671 single base substitution C T intron_variant BRCA-EU 1 204533423 204533423 single base substitution C T intron_variant BRCA-EU 1 204534673 204534673 single base substitution C G intron_variant BRCA-EU 1 204534956 204534956 single base substitution C T intron_variant BRCA-EU 1 204535921 204535921 single base substitution G C intron_variant BRCA-EU 1 204537067 204537067 single base substitution C T intron_variant BRCA-EU 1 204537885 204537885 single base substitution C A intron_variant BRCA-EU 1 204538095 204538095 single base substitution C G intron_variant BRCA-EU 1 204538729 204538729 single base substitution A G intron_variant BRCA-EU 1 204538830 204538830 single base substitution C G intron_variant BRCA-EU 1 204539028 204539028 deletion of <=200bp T - intron_variant BRCA-EU 1 204539103 204539103 single base substitution C T intron_variant BRCA-EU 1 204539402 204539402 single base substitution C T intron_variant BRCA-EU 1 204540742 204540742 single base substitution C G intron_variant BRCA-EU 1 204541385 204541385 single base substitution A G intron_variant BRCA-EU 1 204543279 204543281 deletion of <=200bp TGA - downstream_gene_variant BRCA-EU 1 204543786 204543786 single base substitution C A downstream_gene_variant BRCA-EU 1 204545308 204545308 single base substitution G A downstream_gene_variant BRCA-EU 1 204545685 204545685 single base substitution C G downstream_gene_variant BRCA-EU 1 204547681 204547681 single base substitution G A downstream_gene_variant BRCA-FR 1 204487271 204487271 single base substitution G A intron_variant BRCA-FR 1 204492846 204492846 single base substitution C T intron_variant BRCA-FR 1 204492846 204492846 single base substitution C T upstream_gene_variant BRCA-FR 1 204493766 204493766 single base substitution G A intron_variant BRCA-FR 1 204493766 204493766 single base substitution G A upstream_gene_variant BRCA-FR 1 204494395 204494395 single base substitution G A intron_variant BRCA-FR 1 204494395 204494395 single base substitution G A upstream_gene_variant BRCA-FR 1 204503616 204503616 single base substitution G A downstream_gene_variant BRCA-FR 1 204503616 204503616 single base substitution G A intron_variant BRCA-FR 1 204503616 204503616 single base substitution G A upstream_gene_variant BRCA-FR 1 204503648 204503648 single base substitution C G downstream_gene_variant BRCA-FR 1 204503648 204503648 single base substitution C G intron_variant BRCA-FR 1 204503648 204503648 single base substitution C G upstream_gene_variant BRCA-FR 1 204505669 204505669 single base substitution G C downstream_gene_variant BRCA-FR 1 204505669 204505669 single base substitution G C intron_variant BRCA-FR 1 204505669 204505669 single base substitution G C upstream_gene_variant BRCA-FR 1 204509777 204509777 single base substitution G C downstream_gene_variant BRCA-FR 1 204509777 204509777 single base substitution G C intron_variant BRCA-FR 1 204509777 204509777 single base substitution G C upstream_gene_variant BRCA-FR 1 204518161 204518161 single base substitution G A downstream_gene_variant BRCA-FR 1 204518161 204518161 single base substitution G A intron_variant BRCA-FR 1 204519804 204519804 single base substitution C T 3_prime_UTR_variant BRCA-FR 1 204519804 204519804 single base substitution C T downstream_gene_variant BRCA-FR 1 204519804 204519804 single base substitution C T exon_variant BRCA-FR 1 204519804 204519804 single base substitution C T intron_variant BRCA-FR 1 204522281 204522281 single base substitution A G 3_prime_UTR_variant BRCA-FR 1 204522281 204522281 single base substitution A G downstream_gene_variant BRCA-FR 1 204522281 204522281 single base substitution A G exon_variant BRCA-FR 1 204522281 204522281 single base substitution A G intron_variant BRCA-FR 1 204535921 204535921 single base substitution G C intron_variant BRCA-FR 1 204546399 204546399 single base substitution C T downstream_gene_variant BRCA-FR 1 204547108 204547108 single base substitution C A downstream_gene_variant BRCA-UK 1 204481845 204481845 single base substitution C T upstream_gene_variant BRCA-UK 1 204485801 204485801 single base substitution G A intron_variant BRCA-UK 1 204506955 204506955 single base substitution C G downstream_gene_variant BRCA-UK 1 204506955 204506955 single base substitution C G intron_variant BRCA-UK 1 204506955 204506955 single base substitution C G upstream_gene_variant BRCA-UK 1 204521969 204521969 single base substitution G A 3_prime_UTR_variant BRCA-UK 1 204521969 204521969 single base substitution G A downstream_gene_variant BRCA-UK 1 204521969 204521969 single base substitution G A exon_variant BRCA-UK 1 204521969 204521969 single base substitution G A intron_variant BRCA-UK 1 204523235 204523235 single base substitution G C 3_prime_UTR_variant BRCA-UK 1 204523235 204523235 single base substitution G C downstream_gene_variant BRCA-UK 1 204523235 204523235 single base substitution G C exon_variant BRCA-UK 1 204523235 204523235 single base substitution G C intron_variant BRCA-UK 1 204542336 204542336 single base substitution G A intron_variant BRCA-US 1 204495552 204495553 deletion of <=200bp CT - exon_variant BRCA-US 1 204495552 204495553 deletion of <=200bp CT - frameshift_variant T48 BRCA-US 1 204495552 204495553 deletion of <=200bp CT - intron_variant BRCA-US 1 204506608 204506608 single base substitution A T downstream_gene_variant BRCA-US 1 204506608 204506608 single base substitution A T exon_variant BRCA-US 1 204506608 204506608 single base substitution A T intron_variant BRCA-US 1 204506608 204506608 single base substitution A T missense_variant S132C 394A>T BRCA-US 1 204506608 204506608 single base substitution A T upstream_gene_variant BRCA-US 1 204507346 204507346 single base substitution G A downstream_gene_variant BRCA-US 1 204507346 204507346 single base substitution G A exon_variant BRCA-US 1 204507346 204507346 single base substitution G A intron_variant BRCA-US 1 204507346 204507346 single base substitution G A missense_variant E141K 421G>A BRCA-US 1 204507346 204507346 single base substitution G A missense_variant R118K 353G>A BRCA-US 1 204507346 204507346 single base substitution G A splice_region_variant BRCA-US 1 204507346 204507346 single base substitution G A upstream_gene_variant BRCA-US 1 204513770 204513770 single base substitution T G 3_prime_UTR_variant BRCA-US 1 204513770 204513770 single base substitution T G downstream_gene_variant BRCA-US 1 204513770 204513770 single base substitution T G exon_variant BRCA-US 1 204513770 204513770 single base substitution T G intron_variant BRCA-US 1 204513770 204513770 single base substitution T G synonymous_variant T145T 435T>G BRCA-US 1 204513770 204513770 single base substitution T G synonymous_variant T260T 780T>G CLLE-ES 1 204496713 204496713 single base substitution G C intron_variant CLLE-ES 1 204496809 204496809 single base substitution A G intron_variant CLLE-ES 1 204529168 204529168 single base substitution A G downstream_gene_variant CLLE-ES 1 204529168 204529168 single base substitution A G intron_variant CLLE-ES 1 204533344 204533344 single base substitution A G intron_variant EOPC-DE 1 204497235 204497235 single base substitution A T intron_variant EOPC-DE 1 204499540 204499540 single base substitution A G intron_variant EOPC-DE 1 204519252 204519252 single base substitution A C 3_prime_UTR_variant EOPC-DE 1 204519252 204519252 single base substitution A C downstream_gene_variant EOPC-DE 1 204519252 204519252 single base substitution A C exon_variant EOPC-DE 1 204519252 204519252 single base substitution A C intron_variant ESAD-UK 1 204481576 204481576 single base substitution A C upstream_gene_variant ESAD-UK 1 204482465 204482465 single base substitution T C upstream_gene_variant ESAD-UK 1 204482852 204482852 single base substitution T A upstream_gene_variant ESAD-UK 1 204485100 204485100 single base substitution C A upstream_gene_variant ESAD-UK 1 204485151 204485151 single base substitution A T upstream_gene_variant ESAD-UK 1 204487920 204487920 single base substitution A G intron_variant ESAD-UK 1 204489016 204489016 single base substitution C T intron_variant ESAD-UK 1 204492152 204492152 single base substitution G C intron_variant ESAD-UK 1 204492152 204492152 single base substitution G C upstream_gene_variant ESAD-UK 1 204493562 204493562 single base substitution G A intron_variant ESAD-UK 1 204493562 204493562 single base substitution G A upstream_gene_variant ESAD-UK 1 204496726 204496726 single base substitution G T intron_variant ESAD-UK 1 204497172 204497172 deletion of <=200bp T - intron_variant ESAD-UK 1 204498048 204498048 single base substitution C A intron_variant ESAD-UK 1 204499988 204499988 single base substitution C G intron_variant ESAD-UK 1 204505662 204505662 single base substitution G A downstream_gene_variant ESAD-UK 1 204505662 204505662 single base substitution G A intron_variant ESAD-UK 1 204505662 204505662 single base substitution G A upstream_gene_variant ESAD-UK 1 204506385 204506385 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 204506385 204506385 deletion of <=200bp T - intron_variant ESAD-UK 1 204506385 204506385 deletion of <=200bp T - upstream_gene_variant ESAD-UK 1 204507417 204507417 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 204507417 204507417 single base substitution A G downstream_gene_variant ESAD-UK 1 204507417 204507417 single base substitution A G exon_variant ESAD-UK 1 204507417 204507417 single base substitution A G intron_variant ESAD-UK 1 204507417 204507417 single base substitution A G synonymous_variant K164K 492A>G ESAD-UK 1 204507417 204507417 single base substitution A G synonymous_variant K49K 147A>G ESAD-UK 1 204507417 204507417 single base substitution A G upstream_gene_variant ESAD-UK 1 204507581 204507581 single base substitution C T downstream_gene_variant ESAD-UK 1 204507581 204507581 single base substitution C T intron_variant ESAD-UK 1 204507581 204507581 single base substitution C T upstream_gene_variant ESAD-UK 1 204509083 204509083 single base substitution T A downstream_gene_variant ESAD-UK 1 204509083 204509083 single base substitution T A intron_variant ESAD-UK 1 204509083 204509083 single base substitution T A upstream_gene_variant ESAD-UK 1 204509202 204509202 single base substitution G A downstream_gene_variant ESAD-UK 1 204509202 204509202 single base substitution G A intron_variant ESAD-UK 1 204509202 204509202 single base substitution G A upstream_gene_variant ESAD-UK 1 204509503 204509503 single base substitution G T downstream_gene_variant ESAD-UK 1 204509503 204509503 single base substitution G T intron_variant ESAD-UK 1 204509503 204509503 single base substitution G T upstream_gene_variant ESAD-UK 1 204510780 204510780 single base substitution A G downstream_gene_variant ESAD-UK 1 204510780 204510780 single base substitution A G intron_variant ESAD-UK 1 204510780 204510780 single base substitution A G upstream_gene_variant ESAD-UK 1 204511643 204511643 single base substitution T C intron_variant ESAD-UK 1 204511643 204511643 single base substitution T C upstream_gene_variant ESAD-UK 1 204512244 204512244 single base substitution C T downstream_gene_variant ESAD-UK 1 204512244 204512244 single base substitution C T intron_variant ESAD-UK 1 204512329 204512329 single base substitution G C downstream_gene_variant ESAD-UK 1 204512329 204512329 single base substitution G C intron_variant ESAD-UK 1 204512890 204512890 single base substitution T G downstream_gene_variant ESAD-UK 1 204512890 204512890 single base substitution T G intron_variant ESAD-UK 1 204516569 204516569 single base substitution T C downstream_gene_variant ESAD-UK 1 204516569 204516569 single base substitution T C intron_variant ESAD-UK 1 204517517 204517517 single base substitution T G downstream_gene_variant ESAD-UK 1 204517517 204517517 single base substitution T G intron_variant ESAD-UK 1 204518065 204518065 single base substitution G C downstream_gene_variant ESAD-UK 1 204518065 204518065 single base substitution G C intron_variant ESAD-UK 1 204520293 204520293 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 204520293 204520293 single base substitution C A downstream_gene_variant ESAD-UK 1 204520293 204520293 single base substitution C A exon_variant ESAD-UK 1 204520293 204520293 single base substitution C A intron_variant ESAD-UK 1 204522850 204522850 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 204522850 204522850 single base substitution A G downstream_gene_variant ESAD-UK 1 204522850 204522850 single base substitution A G exon_variant ESAD-UK 1 204522850 204522850 single base substitution A G intron_variant ESAD-UK 1 204524560 204524560 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 204524560 204524560 single base substitution C T downstream_gene_variant ESAD-UK 1 204524560 204524560 single base substitution C T intron_variant ESAD-UK 1 204524989 204524989 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 1 204524989 204524989 deletion of <=200bp A - downstream_gene_variant ESAD-UK 1 204524989 204524989 deletion of <=200bp A - intron_variant ESAD-UK 1 204525599 204525599 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 204525599 204525599 single base substitution C T downstream_gene_variant ESAD-UK 1 204525599 204525599 single base substitution C T intron_variant ESAD-UK 1 204525971 204525971 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 204525971 204525971 single base substitution G T downstream_gene_variant ESAD-UK 1 204525971 204525971 single base substitution G T intron_variant ESAD-UK 1 204526538 204526539 deletion of <=200bp AT - 3_prime_UTR_variant ESAD-UK 1 204526538 204526539 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 1 204526538 204526539 deletion of <=200bp AT - intron_variant ESAD-UK 1 204528097 204528097 single base substitution C T downstream_gene_variant ESAD-UK 1 204528097 204528097 single base substitution C T intron_variant ESAD-UK 1 204528251 204528251 single base substitution G T downstream_gene_variant ESAD-UK 1 204528251 204528251 single base substitution G T intron_variant ESAD-UK 1 204530128 204530128 single base substitution T C downstream_gene_variant ESAD-UK 1 204530128 204530128 single base substitution T C intron_variant ESAD-UK 1 204537660 204537660 single base substitution A G intron_variant ESAD-UK 1 204538159 204538159 single base substitution G A intron_variant ESAD-UK 1 204539443 204539443 single base substitution G A intron_variant ESAD-UK 1 204543372 204543372 single base substitution C T downstream_gene_variant ESAD-UK 1 204544727 204544727 single base substitution C T downstream_gene_variant ESCA-CN 1 204506977 204506977 single base substitution C A downstream_gene_variant ESCA-CN 1 204506977 204506977 single base substitution C A intron_variant ESCA-CN 1 204506977 204506977 single base substitution C A upstream_gene_variant GBM-US 1 204507404 204507404 single base substitution C G downstream_gene_variant GBM-US 1 204507404 204507404 single base substitution C G exon_variant GBM-US 1 204507404 204507404 single base substitution C G intron_variant GBM-US 1 204507404 204507404 single base substitution C G missense_variant T160S 479C>G GBM-US 1 204507404 204507404 single base substitution C G missense_variant T45S 134C>G GBM-US 1 204507404 204507404 single base substitution C G stop_gained Y137* 411C>G GBM-US 1 204507404 204507404 single base substitution C G upstream_gene_variant LAML-KR 1 204484473 204484473 single base substitution G T upstream_gene_variant LGG-US 1 204518349 204518349 single base substitution A C 3_prime_UTR_variant LGG-US 1 204518349 204518349 single base substitution A C downstream_gene_variant LGG-US 1 204518349 204518349 single base substitution A C exon_variant LGG-US 1 204518349 204518349 single base substitution A C intron_variant LGG-US 1 204518349 204518349 single base substitution A C missense_variant T116P 346A>C LGG-US 1 204518349 204518349 single base substitution A C missense_variant T288P 862A>C LGG-US 1 204518349 204518349 single base substitution A C missense_variant T338P 1012A>C LICA-FR 1 204481816 204481816 deletion of <=200bp T - upstream_gene_variant LICA-FR 1 204498057 204498057 single base substitution G A intron_variant LICA-FR 1 204502319 204502319 single base substitution A T downstream_gene_variant LICA-FR 1 204502319 204502319 single base substitution A T intron_variant LICA-FR 1 204502319 204502319 single base substitution A T upstream_gene_variant LICA-FR 1 204517468 204517468 single base substitution G T downstream_gene_variant LICA-FR 1 204517468 204517468 single base substitution G T intron_variant LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - 3_prime_UTR_variant LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - downstream_gene_variant LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - exon_variant LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - inframe_deletion K202 LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - inframe_deletion K267 LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - inframe_deletion K317 LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - inframe_deletion K95 LICA-FR 1 204518286 204518288 deletion of <=200bp AAG - intron_variant LICA-FR 1 204524989 204524989 insertion of <=200bp - A 3_prime_UTR_variant LICA-FR 1 204524989 204524989 insertion of <=200bp - A downstream_gene_variant LICA-FR 1 204524989 204524989 insertion of <=200bp - A intron_variant LINC-JP 1 204494772 204494772 single base substitution A T intron_variant LINC-JP 1 204501738 204501738 single base substitution A G exon_variant LINC-JP 1 204501738 204501738 single base substitution A G intron_variant LINC-JP 1 204506695 204506695 single base substitution A G downstream_gene_variant LINC-JP 1 204506695 204506695 single base substitution A G intron_variant LINC-JP 1 204506695 204506695 single base substitution A G upstream_gene_variant LINC-JP 1 204507121 204507121 deletion of <=200bp T - downstream_gene_variant LINC-JP 1 204507121 204507121 deletion of <=200bp T - exon_variant LINC-JP 1 204507121 204507121 deletion of <=200bp T - intron_variant LINC-JP 1 204507121 204507121 deletion of <=200bp T - splice_donor_variant LINC-JP 1 204507121 204507121 deletion of <=200bp T - upstream_gene_variant LINC-JP 1 204511634 204511634 deletion of <=200bp T - intron_variant LINC-JP 1 204511634 204511634 deletion of <=200bp T - upstream_gene_variant LINC-JP 1 204516189 204516189 single base substitution G A downstream_gene_variant LINC-JP 1 204516189 204516189 single base substitution G A intron_variant LINC-JP 1 204519259 204519259 insertion of <=200bp - T 3_prime_UTR_variant LINC-JP 1 204519259 204519259 insertion of <=200bp - T downstream_gene_variant LINC-JP 1 204519259 204519259 insertion of <=200bp - T exon_variant LINC-JP 1 204519259 204519259 insertion of <=200bp - T intron_variant LINC-JP 1 204533862 204533862 single base substitution A G intron_variant LINC-JP 1 204537181 204537181 single base substitution C T intron_variant LINC-JP 1 204537608 204537608 single base substitution A G intron_variant LIRI-JP 1 204481965 204481965 single base substitution C T upstream_gene_variant LIRI-JP 1 204482442 204482442 single base substitution A G upstream_gene_variant LIRI-JP 1 204483558 204483558 single base substitution C T upstream_gene_variant LIRI-JP 1 204487004 204487005 deletion of <=200bp TT - intron_variant LIRI-JP 1 204487609 204487621 deletion of <=200bp ACTTGCAGTTAGT - intron_variant LIRI-JP 1 204488719 204488719 single base substitution C G intron_variant LIRI-JP 1 204490973 204490973 single base substitution A G intron_variant LIRI-JP 1 204490973 204490973 single base substitution A G upstream_gene_variant LIRI-JP 1 204493889 204493889 single base substitution C G intron_variant LIRI-JP 1 204493889 204493889 single base substitution C G upstream_gene_variant LIRI-JP 1 204495491 204495491 single base substitution C T exon_variant LIRI-JP 1 204495491 204495491 single base substitution C T intron_variant LIRI-JP 1 204495491 204495491 single base substitution C T stop_gained R28* 82C>T LIRI-JP 1 204498820 204498820 single base substitution C T intron_variant LIRI-JP 1 204499965 204499965 single base substitution G T intron_variant LIRI-JP 1 204500790 204500790 single base substitution C A intron_variant LIRI-JP 1 204501678 204501678 single base substitution T G exon_variant LIRI-JP 1 204501678 204501678 single base substitution T G intron_variant LIRI-JP 1 204501936 204501936 single base substitution A T downstream_gene_variant LIRI-JP 1 204501936 204501936 single base substitution A T intron_variant LIRI-JP 1 204501936 204501936 single base substitution A T missense_variant E128V 383A>T LIRI-JP 1 204502632 204502632 single base substitution A G downstream_gene_variant LIRI-JP 1 204502632 204502632 single base substitution A G intron_variant LIRI-JP 1 204502632 204502632 single base substitution A G upstream_gene_variant LIRI-JP 1 204503050 204503050 single base substitution A G downstream_gene_variant LIRI-JP 1 204503050 204503050 single base substitution A G intron_variant LIRI-JP 1 204503050 204503050 single base substitution A G upstream_gene_variant LIRI-JP 1 204503981 204503981 single base substitution A G downstream_gene_variant LIRI-JP 1 204503981 204503981 single base substitution A G intron_variant LIRI-JP 1 204503981 204503981 single base substitution A G upstream_gene_variant LIRI-JP 1 204505025 204505025 single base substitution T G downstream_gene_variant LIRI-JP 1 204505025 204505025 single base substitution T G intron_variant LIRI-JP 1 204505025 204505025 single base substitution T G upstream_gene_variant LIRI-JP 1 204505723 204505723 single base substitution A G downstream_gene_variant LIRI-JP 1 204505723 204505723 single base substitution A G intron_variant LIRI-JP 1 204505723 204505723 single base substitution A G upstream_gene_variant LIRI-JP 1 204506943 204506943 single base substitution T G downstream_gene_variant LIRI-JP 1 204506943 204506943 single base substitution T G intron_variant LIRI-JP 1 204506943 204506943 single base substitution T G upstream_gene_variant LIRI-JP 1 204507459 204507459 single base substitution A G downstream_gene_variant LIRI-JP 1 204507459 204507459 single base substitution A G intron_variant LIRI-JP 1 204507459 204507459 single base substitution A G upstream_gene_variant LIRI-JP 1 204508936 204508936 single base substitution A G downstream_gene_variant LIRI-JP 1 204508936 204508936 single base substitution A G intron_variant LIRI-JP 1 204508936 204508936 single base substitution A G upstream_gene_variant LIRI-JP 1 204509987 204509987 single base substitution T G downstream_gene_variant LIRI-JP 1 204509987 204509987 single base substitution T G intron_variant LIRI-JP 1 204509987 204509987 single base substitution T G upstream_gene_variant LIRI-JP 1 204512347 204512347 single base substitution A G downstream_gene_variant LIRI-JP 1 204512347 204512347 single base substitution A G intron_variant LIRI-JP 1 204513844 204513844 single base substitution G C downstream_gene_variant LIRI-JP 1 204513844 204513844 single base substitution G C intron_variant LIRI-JP 1 204514035 204514035 single base substitution C T downstream_gene_variant LIRI-JP 1 204514035 204514035 single base substitution C T intron_variant LIRI-JP 1 204514733 204514733 single base substitution G T downstream_gene_variant LIRI-JP 1 204514733 204514733 single base substitution G T intron_variant LIRI-JP 1 204515204 204515204 single base substitution T C downstream_gene_variant LIRI-JP 1 204515204 204515204 single base substitution T C intron_variant LIRI-JP 1 204515984 204515984 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 204515984 204515984 single base substitution C T downstream_gene_variant LIRI-JP 1 204515984 204515984 single base substitution C T exon_variant LIRI-JP 1 204515984 204515984 single base substitution C T intron_variant LIRI-JP 1 204515984 204515984 single base substitution C T synonymous_variant T179T 537C>T LIRI-JP 1 204515984 204515984 single base substitution C T synonymous_variant T244T 732C>T LIRI-JP 1 204515984 204515984 single base substitution C T synonymous_variant T294T 882C>T LIRI-JP 1 204515984 204515984 single base substitution C T synonymous_variant T72T 216C>T LIRI-JP 1 204516174 204516174 single base substitution A G downstream_gene_variant LIRI-JP 1 204516174 204516174 single base substitution A G intron_variant LIRI-JP 1 204516268 204516268 single base substitution A C downstream_gene_variant LIRI-JP 1 204516268 204516268 single base substitution A C intron_variant LIRI-JP 1 204517535 204517535 single base substitution A C downstream_gene_variant LIRI-JP 1 204517535 204517535 single base substitution A C intron_variant LIRI-JP 1 204518437 204518437 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 204518437 204518437 single base substitution C T downstream_gene_variant LIRI-JP 1 204518437 204518437 single base substitution C T exon_variant LIRI-JP 1 204518437 204518437 single base substitution C T intron_variant LIRI-JP 1 204518437 204518437 single base substitution C T missense_variant S145L 434C>T LIRI-JP 1 204518437 204518437 single base substitution C T missense_variant S317L 950C>T LIRI-JP 1 204518437 204518437 single base substitution C T missense_variant S367L 1100C>T LIRI-JP 1 204518437 204518437 single base substitution C T missense_variant S41L 122C>T LIRI-JP 1 204520177 204520177 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 204520177 204520177 single base substitution G A downstream_gene_variant LIRI-JP 1 204520177 204520177 single base substitution G A exon_variant LIRI-JP 1 204520177 204520177 single base substitution G A intron_variant LIRI-JP 1 204521926 204521926 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 204521926 204521926 single base substitution A G downstream_gene_variant LIRI-JP 1 204521926 204521926 single base substitution A G exon_variant LIRI-JP 1 204521926 204521926 single base substitution A G intron_variant LIRI-JP 1 204523229 204523229 deletion of <=200bp T - 3_prime_UTR_variant LIRI-JP 1 204523229 204523229 deletion of <=200bp T - downstream_gene_variant LIRI-JP 1 204523229 204523229 deletion of <=200bp T - exon_variant LIRI-JP 1 204523229 204523229 deletion of <=200bp T - intron_variant LIRI-JP 1 204523480 204523480 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 204523480 204523480 single base substitution A G downstream_gene_variant LIRI-JP 1 204523480 204523480 single base substitution A G intron_variant LIRI-JP 1 204523623 204523623 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 204523623 204523623 single base substitution G T downstream_gene_variant LIRI-JP 1 204523623 204523623 single base substitution G T intron_variant LIRI-JP 1 204527437 204527437 single base substitution A G downstream_gene_variant LIRI-JP 1 204527437 204527437 single base substitution A G intron_variant LIRI-JP 1 204527821 204527821 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 204527821 204527821 single base substitution T G downstream_gene_variant LIRI-JP 1 204529981 204529981 single base substitution T A downstream_gene_variant LIRI-JP 1 204529981 204529981 single base substitution T A intron_variant LIRI-JP 1 204530028 204530028 single base substitution G C downstream_gene_variant LIRI-JP 1 204530028 204530028 single base substitution G C intron_variant LIRI-JP 1 204531512 204531512 single base substitution C T downstream_gene_variant LIRI-JP 1 204531512 204531512 single base substitution C T intron_variant LIRI-JP 1 204533175 204533175 single base substitution G T intron_variant LIRI-JP 1 204534233 204534233 single base substitution G A intron_variant LIRI-JP 1 204535946 204535946 single base substitution T G intron_variant LIRI-JP 1 204536827 204536827 single base substitution T C intron_variant LIRI-JP 1 204537230 204537230 single base substitution T C intron_variant LIRI-JP 1 204537246 204537246 single base substitution G T intron_variant LIRI-JP 1 204544127 204544127 single base substitution A G downstream_gene_variant LIRI-JP 1 204544516 204544516 single base substitution G T downstream_gene_variant LUSC-KR 1 204481553 204481553 single base substitution T G upstream_gene_variant LUSC-KR 1 204483133 204483133 single base substitution C G upstream_gene_variant LUSC-KR 1 204484473 204484473 single base substitution G T upstream_gene_variant LUSC-KR 1 204492140 204492140 single base substitution G A intron_variant LUSC-KR 1 204492140 204492140 single base substitution G A upstream_gene_variant LUSC-KR 1 204493597 204493597 single base substitution C T intron_variant LUSC-KR 1 204493597 204493597 single base substitution C T upstream_gene_variant LUSC-KR 1 204495109 204495109 single base substitution G A intron_variant LUSC-KR 1 204497221 204497221 single base substitution A T intron_variant LUSC-KR 1 204499748 204499748 single base substitution C T intron_variant LUSC-KR 1 204500609 204500609 single base substitution C G intron_variant LUSC-KR 1 204501383 204501383 single base substitution C T exon_variant LUSC-KR 1 204501383 204501383 single base substitution C T intron_variant LUSC-KR 1 204503277 204503277 single base substitution C T downstream_gene_variant LUSC-KR 1 204503277 204503277 single base substitution C T intron_variant LUSC-KR 1 204503277 204503277 single base substitution C T upstream_gene_variant LUSC-KR 1 204510776 204510776 single base substitution C G downstream_gene_variant LUSC-KR 1 204510776 204510776 single base substitution C G intron_variant LUSC-KR 1 204510776 204510776 single base substitution C G upstream_gene_variant LUSC-KR 1 204516942 204516942 single base substitution C T downstream_gene_variant LUSC-KR 1 204516942 204516942 single base substitution C T intron_variant LUSC-KR 1 204521471 204521471 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 204521471 204521471 single base substitution G T downstream_gene_variant LUSC-KR 1 204521471 204521471 single base substitution G T exon_variant LUSC-KR 1 204521471 204521471 single base substitution G T intron_variant LUSC-KR 1 204524392 204524392 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 204524392 204524392 single base substitution C T downstream_gene_variant LUSC-KR 1 204524392 204524392 single base substitution C T intron_variant LUSC-KR 1 204525462 204525462 single base substitution G A 3_prime_UTR_variant LUSC-KR 1 204525462 204525462 single base substitution G A downstream_gene_variant LUSC-KR 1 204525462 204525462 single base substitution G A intron_variant LUSC-KR 1 204525568 204525568 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 204525568 204525568 single base substitution G T downstream_gene_variant LUSC-KR 1 204525568 204525568 single base substitution G T intron_variant LUSC-KR 1 204527060 204527060 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 204527060 204527060 single base substitution C T downstream_gene_variant LUSC-KR 1 204527060 204527060 single base substitution C T intron_variant LUSC-KR 1 204531715 204531715 single base substitution G A downstream_gene_variant LUSC-KR 1 204531715 204531715 single base substitution G A intron_variant LUSC-KR 1 204533334 204533334 single base substitution A G intron_variant LUSC-KR 1 204535885 204535885 single base substitution G T intron_variant LUSC-KR 1 204536339 204536339 single base substitution C G intron_variant LUSC-KR 1 204542393 204542393 single base substitution G T intron_variant LUSC-KR 1 204543061 204543061 single base substitution T C downstream_gene_variant LUSC-US 1 204507405 204507405 single base substitution C A downstream_gene_variant LUSC-US 1 204507405 204507405 single base substitution C A exon_variant LUSC-US 1 204507405 204507405 single base substitution C A intron_variant LUSC-US 1 204507405 204507405 single base substitution C A missense_variant L138I 412C>A LUSC-US 1 204507405 204507405 single base substitution C A synonymous_variant T160T 480C>A LUSC-US 1 204507405 204507405 single base substitution C A synonymous_variant T45T 135C>A LUSC-US 1 204507405 204507405 single base substitution C A upstream_gene_variant MALY-DE 1 204482556 204482556 single base substitution C T upstream_gene_variant MALY-DE 1 204483939 204483939 single base substitution G C upstream_gene_variant MALY-DE 1 204484101 204484101 insertion of <=200bp - A upstream_gene_variant MALY-DE 1 204486275 204486275 single base substitution G A intron_variant MALY-DE 1 204487570 204487570 deletion of <=200bp T - intron_variant MALY-DE 1 204490589 204490589 single base substitution T C intron_variant MALY-DE 1 204490589 204490589 single base substitution T C upstream_gene_variant MALY-DE 1 204491006 204491006 single base substitution T A intron_variant MALY-DE 1 204491006 204491006 single base substitution T A upstream_gene_variant MALY-DE 1 204498757 204498757 single base substitution C G intron_variant MALY-DE 1 204499654 204499654 single base substitution G A intron_variant MALY-DE 1 204503459 204503459 single base substitution A T downstream_gene_variant MALY-DE 1 204503459 204503459 single base substitution A T intron_variant MALY-DE 1 204503459 204503459 single base substitution A T upstream_gene_variant MALY-DE 1 204503467 204503467 single base substitution G A downstream_gene_variant MALY-DE 1 204503467 204503467 single base substitution G A intron_variant MALY-DE 1 204503467 204503467 single base substitution G A upstream_gene_variant MALY-DE 1 204503645 204503646 deletion of <=200bp TC - downstream_gene_variant MALY-DE 1 204503645 204503646 deletion of <=200bp TC - intron_variant MALY-DE 1 204503645 204503646 deletion of <=200bp TC - upstream_gene_variant MALY-DE 1 204504195 204504195 single base substitution A T downstream_gene_variant MALY-DE 1 204504195 204504195 single base substitution A T intron_variant MALY-DE 1 204504195 204504195 single base substitution A T upstream_gene_variant MALY-DE 1 204505067 204505067 single base substitution T C downstream_gene_variant MALY-DE 1 204505067 204505067 single base substitution T C intron_variant MALY-DE 1 204505067 204505067 single base substitution T C upstream_gene_variant MALY-DE 1 204507415 204507415 single base substitution A G downstream_gene_variant MALY-DE 1 204507415 204507415 single base substitution A G exon_variant MALY-DE 1 204507415 204507415 single base substitution A G intron_variant MALY-DE 1 204507415 204507415 single base substitution A G missense_variant K164E 490A>G MALY-DE 1 204507415 204507415 single base substitution A G missense_variant K49E 145A>G MALY-DE 1 204507415 204507415 single base substitution A G stop_retained_variant *141* 422A>G MALY-DE 1 204507415 204507415 single base substitution A G upstream_gene_variant MALY-DE 1 204508352 204508352 single base substitution G T downstream_gene_variant MALY-DE 1 204508352 204508352 single base substitution G T intron_variant MALY-DE 1 204508352 204508352 single base substitution G T upstream_gene_variant MALY-DE 1 204519228 204519228 single base substitution T C 3_prime_UTR_variant MALY-DE 1 204519228 204519228 single base substitution T C downstream_gene_variant MALY-DE 1 204519228 204519228 single base substitution T C exon_variant MALY-DE 1 204519228 204519228 single base substitution T C intron_variant MALY-DE 1 204524510 204524510 single base substitution T C 3_prime_UTR_variant MALY-DE 1 204524510 204524510 single base substitution T C downstream_gene_variant MALY-DE 1 204524510 204524510 single base substitution T C intron_variant MALY-DE 1 204532059 204532059 single base substitution T C downstream_gene_variant MALY-DE 1 204532059 204532059 single base substitution T C intron_variant MALY-DE 1 204535810 204535810 single base substitution C A intron_variant MALY-DE 1 204536056 204536056 single base substitution C G intron_variant MALY-DE 1 204544647 204544647 single base substitution C T downstream_gene_variant MELA-AU 1 204480986 204480986 single base substitution G A upstream_gene_variant MELA-AU 1 204481459 204481459 single base substitution C T upstream_gene_variant MELA-AU 1 204482059 204482059 single base substitution C T upstream_gene_variant MELA-AU 1 204482142 204482142 single base substitution T C upstream_gene_variant MELA-AU 1 204482396 204482396 single base substitution G A upstream_gene_variant MELA-AU 1 204483089 204483089 single base substitution G A upstream_gene_variant MELA-AU 1 204483190 204483190 single base substitution G A upstream_gene_variant MELA-AU 1 204483273 204483273 single base substitution G A upstream_gene_variant MELA-AU 1 204483919 204483919 single base substitution A T upstream_gene_variant MELA-AU 1 204484001 204484001 single base substitution C T upstream_gene_variant MELA-AU 1 204485496 204485496 single base substitution C T upstream_gene_variant MELA-AU 1 204486607 204486607 single base substitution C T intron_variant MELA-AU 1 204487206 204487206 single base substitution C T intron_variant MELA-AU 1 204487339 204487339 single base substitution C T intron_variant MELA-AU 1 204487530 204487530 single base substitution C T intron_variant MELA-AU 1 204488561 204488561 single base substitution G A intron_variant MELA-AU 1 204488976 204488976 single base substitution C T intron_variant MELA-AU 1 204489556 204489556 single base substitution C T intron_variant MELA-AU 1 204490373 204490373 single base substitution C T intron_variant MELA-AU 1 204490373 204490373 single base substitution C T upstream_gene_variant MELA-AU 1 204490835 204490835 single base substitution C T intron_variant MELA-AU 1 204490835 204490835 single base substitution C T upstream_gene_variant MELA-AU 1 204491451 204491451 single base substitution C T intron_variant MELA-AU 1 204491451 204491451 single base substitution C T upstream_gene_variant MELA-AU 1 204492358 204492358 single base substitution G C intron_variant MELA-AU 1 204492358 204492358 single base substitution G C upstream_gene_variant MELA-AU 1 204492642 204492642 single base substitution C T intron_variant MELA-AU 1 204492642 204492642 single base substitution C T upstream_gene_variant MELA-AU 1 204493452 204493452 single base substitution T C intron_variant MELA-AU 1 204493452 204493452 single base substitution T C upstream_gene_variant MELA-AU 1 204494103 204494103 single base substitution T A intron_variant MELA-AU 1 204494103 204494103 single base substitution T A upstream_gene_variant MELA-AU 1 204494290 204494290 single base substitution C T intron_variant MELA-AU 1 204494290 204494290 single base substitution C T upstream_gene_variant MELA-AU 1 204495266 204495266 single base substitution C T intron_variant MELA-AU 1 204495585 204495585 single base substitution C T intron_variant MELA-AU 1 204496097 204496097 single base substitution C T intron_variant MELA-AU 1 204496150 204496150 single base substitution C T intron_variant MELA-AU 1 204496332 204496332 single base substitution G A intron_variant MELA-AU 1 204497179 204497179 single base substitution C T intron_variant MELA-AU 1 204497223 204497223 single base substitution T A intron_variant MELA-AU 1 204497474 204497474 single base substitution G A intron_variant MELA-AU 1 204497515 204497515 single base substitution C T intron_variant MELA-AU 1 204498758 204498758 single base substitution C T intron_variant MELA-AU 1 204499008 204499008 single base substitution T A intron_variant MELA-AU 1 204499203 204499203 single base substitution C T intron_variant MELA-AU 1 204499262 204499262 single base substitution C T intron_variant MELA-AU 1 204499971 204499971 single base substitution C G intron_variant MELA-AU 1 204501571 204501571 single base substitution C T exon_variant MELA-AU 1 204501571 204501571 single base substitution C T intron_variant MELA-AU 1 204501740 204501740 single base substitution C T exon_variant MELA-AU 1 204501740 204501740 single base substitution C T intron_variant MELA-AU 1 204501745 204501745 single base substitution C T exon_variant MELA-AU 1 204501745 204501745 single base substitution C T intron_variant MELA-AU 1 204501798 204501798 single base substitution C T downstream_gene_variant MELA-AU 1 204501798 204501798 single base substitution C T intron_variant MELA-AU 1 204502023 204502023 single base substitution C T downstream_gene_variant MELA-AU 1 204502023 204502023 single base substitution C T intron_variant MELA-AU 1 204502023 204502023 single base substitution C T upstream_gene_variant MELA-AU 1 204502469 204502469 single base substitution G A downstream_gene_variant MELA-AU 1 204502469 204502469 single base substitution G A intron_variant MELA-AU 1 204502469 204502469 single base substitution G A upstream_gene_variant MELA-AU 1 204502569 204502569 single base substitution G A downstream_gene_variant MELA-AU 1 204502569 204502569 single base substitution G A intron_variant MELA-AU 1 204502569 204502569 single base substitution G A upstream_gene_variant MELA-AU 1 204503144 204503145 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 204503144 204503145 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 204503144 204503145 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 204503431 204503431 single base substitution C T downstream_gene_variant MELA-AU 1 204503431 204503431 single base substitution C T intron_variant MELA-AU 1 204503431 204503431 single base substitution C T upstream_gene_variant MELA-AU 1 204503648 204503648 single base substitution C T downstream_gene_variant MELA-AU 1 204503648 204503648 single base substitution C T intron_variant MELA-AU 1 204503648 204503648 single base substitution C T upstream_gene_variant MELA-AU 1 204503871 204503871 single base substitution C T downstream_gene_variant MELA-AU 1 204503871 204503871 single base substitution C T intron_variant MELA-AU 1 204503871 204503871 single base substitution C T upstream_gene_variant MELA-AU 1 204503941 204503941 single base substitution C T downstream_gene_variant MELA-AU 1 204503941 204503941 single base substitution C T intron_variant MELA-AU 1 204503941 204503941 single base substitution C T upstream_gene_variant MELA-AU 1 204504864 204504864 single base substitution C T downstream_gene_variant MELA-AU 1 204504864 204504864 single base substitution C T intron_variant MELA-AU 1 204504864 204504864 single base substitution C T upstream_gene_variant MELA-AU 1 204504870 204504870 single base substitution G A downstream_gene_variant MELA-AU 1 204504870 204504870 single base substitution G A intron_variant MELA-AU 1 204504870 204504870 single base substitution G A upstream_gene_variant MELA-AU 1 204505184 204505184 single base substitution T G downstream_gene_variant MELA-AU 1 204505184 204505184 single base substitution T G intron_variant MELA-AU 1 204505184 204505184 single base substitution T G upstream_gene_variant MELA-AU 1 204505484 204505484 single base substitution C T downstream_gene_variant MELA-AU 1 204505484 204505484 single base substitution C T intron_variant MELA-AU 1 204505484 204505484 single base substitution C T upstream_gene_variant MELA-AU 1 204505636 204505636 single base substitution C T downstream_gene_variant MELA-AU 1 204505636 204505636 single base substitution C T intron_variant MELA-AU 1 204505636 204505636 single base substitution C T upstream_gene_variant MELA-AU 1 204506113 204506113 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204506113 204506113 single base substitution C T downstream_gene_variant MELA-AU 1 204506113 204506113 single base substitution C T intron_variant MELA-AU 1 204506113 204506113 single base substitution C T upstream_gene_variant MELA-AU 1 204506325 204506325 single base substitution T A downstream_gene_variant MELA-AU 1 204506325 204506325 single base substitution T A intron_variant MELA-AU 1 204506325 204506325 single base substitution T A upstream_gene_variant MELA-AU 1 204506332 204506332 single base substitution C A downstream_gene_variant MELA-AU 1 204506332 204506332 single base substitution C A intron_variant MELA-AU 1 204506332 204506332 single base substitution C A upstream_gene_variant MELA-AU 1 204506504 204506504 single base substitution G T downstream_gene_variant MELA-AU 1 204506504 204506504 single base substitution G T intron_variant MELA-AU 1 204506504 204506504 single base substitution G T upstream_gene_variant MELA-AU 1 204507823 204507823 single base substitution C T downstream_gene_variant MELA-AU 1 204507823 204507823 single base substitution C T intron_variant MELA-AU 1 204507823 204507823 single base substitution C T upstream_gene_variant MELA-AU 1 204508094 204508094 single base substitution T C downstream_gene_variant MELA-AU 1 204508094 204508094 single base substitution T C intron_variant MELA-AU 1 204508094 204508094 single base substitution T C upstream_gene_variant MELA-AU 1 204508143 204508143 single base substitution G A downstream_gene_variant MELA-AU 1 204508143 204508143 single base substitution G A intron_variant MELA-AU 1 204508143 204508143 single base substitution G A upstream_gene_variant MELA-AU 1 204508491 204508491 single base substitution C G downstream_gene_variant MELA-AU 1 204508491 204508491 single base substitution C G intron_variant MELA-AU 1 204508491 204508491 single base substitution C G upstream_gene_variant MELA-AU 1 204509870 204509870 single base substitution G A downstream_gene_variant MELA-AU 1 204509870 204509870 single base substitution G A intron_variant MELA-AU 1 204509870 204509870 single base substitution G A upstream_gene_variant MELA-AU 1 204510540 204510540 single base substitution A T downstream_gene_variant MELA-AU 1 204510540 204510540 single base substitution A T intron_variant MELA-AU 1 204510540 204510540 single base substitution A T upstream_gene_variant MELA-AU 1 204511961 204511961 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204511961 204511961 single base substitution C T exon_variant MELA-AU 1 204511961 204511961 single base substitution C T intron_variant MELA-AU 1 204511961 204511961 single base substitution C T synonymous_variant D15D 45C>T MELA-AU 1 204511961 204511961 single base substitution C T synonymous_variant D187D 561C>T MELA-AU 1 204511961 204511961 single base substitution C T synonymous_variant D72D 216C>T MELA-AU 1 204512418 204512418 single base substitution G A downstream_gene_variant MELA-AU 1 204512418 204512418 single base substitution G A intron_variant MELA-AU 1 204513260 204513260 single base substitution C T downstream_gene_variant MELA-AU 1 204513260 204513260 single base substitution C T intron_variant MELA-AU 1 204513425 204513425 single base substitution C T downstream_gene_variant MELA-AU 1 204513425 204513425 single base substitution C T intron_variant MELA-AU 1 204513831 204513831 single base substitution C T downstream_gene_variant MELA-AU 1 204513831 204513831 single base substitution C T intron_variant MELA-AU 1 204513842 204513842 single base substitution C T downstream_gene_variant MELA-AU 1 204513842 204513842 single base substitution C T intron_variant MELA-AU 1 204514240 204514240 single base substitution G C downstream_gene_variant MELA-AU 1 204514240 204514240 single base substitution G C intron_variant MELA-AU 1 204514654 204514654 single base substitution C T downstream_gene_variant MELA-AU 1 204514654 204514654 single base substitution C T intron_variant MELA-AU 1 204515275 204515275 single base substitution A T downstream_gene_variant MELA-AU 1 204515275 204515275 single base substitution A T intron_variant MELA-AU 1 204515526 204515526 single base substitution T C downstream_gene_variant MELA-AU 1 204515526 204515526 single base substitution T C intron_variant MELA-AU 1 204515531 204515531 single base substitution C G downstream_gene_variant MELA-AU 1 204515531 204515531 single base substitution C G intron_variant MELA-AU 1 204516218 204516218 single base substitution C T downstream_gene_variant MELA-AU 1 204516218 204516218 single base substitution C T intron_variant MELA-AU 1 204516317 204516317 single base substitution C T downstream_gene_variant MELA-AU 1 204516317 204516317 single base substitution C T intron_variant MELA-AU 1 204517344 204517344 single base substitution C T downstream_gene_variant MELA-AU 1 204517344 204517344 single base substitution C T intron_variant MELA-AU 1 204517587 204517587 single base substitution C T downstream_gene_variant MELA-AU 1 204517587 204517587 single base substitution C T intron_variant MELA-AU 1 204518634 204518634 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204518634 204518634 single base substitution C T downstream_gene_variant MELA-AU 1 204518634 204518634 single base substitution C T exon_variant MELA-AU 1 204518634 204518634 single base substitution C T intron_variant MELA-AU 1 204518634 204518634 single base substitution C T missense_variant L107F 319C>T MELA-AU 1 204518634 204518634 single base substitution C T missense_variant L383F 1147C>T MELA-AU 1 204518634 204518634 single base substitution C T missense_variant L433F 1297C>T MELA-AU 1 204518841 204518841 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204518841 204518841 single base substitution C T downstream_gene_variant MELA-AU 1 204518841 204518841 single base substitution C T exon_variant MELA-AU 1 204518841 204518841 single base substitution C T intron_variant MELA-AU 1 204519368 204519368 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204519368 204519368 single base substitution C T downstream_gene_variant MELA-AU 1 204519368 204519368 single base substitution C T exon_variant MELA-AU 1 204519368 204519368 single base substitution C T intron_variant MELA-AU 1 204519858 204519858 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204519858 204519858 single base substitution C T downstream_gene_variant MELA-AU 1 204519858 204519858 single base substitution C T exon_variant MELA-AU 1 204519858 204519858 single base substitution C T intron_variant MELA-AU 1 204520468 204520468 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204520468 204520468 single base substitution C T downstream_gene_variant MELA-AU 1 204520468 204520468 single base substitution C T exon_variant MELA-AU 1 204520468 204520468 single base substitution C T intron_variant MELA-AU 1 204520795 204520795 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204520795 204520795 single base substitution C T downstream_gene_variant MELA-AU 1 204520795 204520795 single base substitution C T exon_variant MELA-AU 1 204520795 204520795 single base substitution C T intron_variant MELA-AU 1 204520801 204520801 single base substitution G A 3_prime_UTR_variant MELA-AU 1 204520801 204520801 single base substitution G A downstream_gene_variant MELA-AU 1 204520801 204520801 single base substitution G A exon_variant MELA-AU 1 204520801 204520801 single base substitution G A intron_variant MELA-AU 1 204521129 204521129 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204521129 204521129 single base substitution C T downstream_gene_variant MELA-AU 1 204521129 204521129 single base substitution C T exon_variant MELA-AU 1 204521129 204521129 single base substitution C T intron_variant MELA-AU 1 204521150 204521150 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204521150 204521150 single base substitution C T downstream_gene_variant MELA-AU 1 204521150 204521150 single base substitution C T exon_variant MELA-AU 1 204521150 204521150 single base substitution C T intron_variant MELA-AU 1 204521708 204521708 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204521708 204521708 single base substitution C T downstream_gene_variant MELA-AU 1 204521708 204521708 single base substitution C T exon_variant MELA-AU 1 204521708 204521708 single base substitution C T intron_variant MELA-AU 1 204522127 204522127 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204522127 204522127 single base substitution C T downstream_gene_variant MELA-AU 1 204522127 204522127 single base substitution C T exon_variant MELA-AU 1 204522127 204522127 single base substitution C T intron_variant MELA-AU 1 204523473 204523473 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204523473 204523473 single base substitution C T downstream_gene_variant MELA-AU 1 204523473 204523473 single base substitution C T intron_variant MELA-AU 1 204524080 204524080 single base substitution G A 3_prime_UTR_variant MELA-AU 1 204524080 204524080 single base substitution G A downstream_gene_variant MELA-AU 1 204524080 204524080 single base substitution G A intron_variant MELA-AU 1 204524514 204524514 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204524514 204524514 single base substitution C T downstream_gene_variant MELA-AU 1 204524514 204524514 single base substitution C T intron_variant MELA-AU 1 204524575 204524575 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204524575 204524575 single base substitution C T downstream_gene_variant MELA-AU 1 204524575 204524575 single base substitution C T intron_variant MELA-AU 1 204525007 204525007 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204525007 204525007 single base substitution C T downstream_gene_variant MELA-AU 1 204525007 204525007 single base substitution C T intron_variant MELA-AU 1 204525476 204525476 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204525476 204525476 single base substitution C T downstream_gene_variant MELA-AU 1 204525476 204525476 single base substitution C T intron_variant MELA-AU 1 204525841 204525841 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204525841 204525841 single base substitution C T downstream_gene_variant MELA-AU 1 204525841 204525841 single base substitution C T intron_variant MELA-AU 1 204525842 204525842 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204525842 204525842 single base substitution C T downstream_gene_variant MELA-AU 1 204525842 204525842 single base substitution C T intron_variant MELA-AU 1 204525935 204525935 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204525935 204525935 single base substitution C T downstream_gene_variant MELA-AU 1 204525935 204525935 single base substitution C T intron_variant MELA-AU 1 204526137 204526137 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204526137 204526137 single base substitution C T downstream_gene_variant MELA-AU 1 204526137 204526137 single base substitution C T intron_variant MELA-AU 1 204526302 204526302 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204526302 204526302 single base substitution C T downstream_gene_variant MELA-AU 1 204526302 204526302 single base substitution C T intron_variant MELA-AU 1 204526523 204526523 single base substitution G A 3_prime_UTR_variant MELA-AU 1 204526523 204526523 single base substitution G A downstream_gene_variant MELA-AU 1 204526523 204526523 single base substitution G A intron_variant MELA-AU 1 204526538 204526538 single base substitution A T 3_prime_UTR_variant MELA-AU 1 204526538 204526538 single base substitution A T downstream_gene_variant MELA-AU 1 204526538 204526538 single base substitution A T intron_variant MELA-AU 1 204526569 204526569 single base substitution C T 3_prime_UTR_variant MELA-AU 1 204526569 204526569 single base substitution C T downstream_gene_variant MELA-AU 1 204526569 204526569 single base substitution C T intron_variant MELA-AU 1 204526733 204526733 single base substitution T C 3_prime_UTR_variant MELA-AU 1 204526733 204526733 single base substitution T C downstream_gene_variant MELA-AU 1 204526733 204526733 single base substitution T C intron_variant MELA-AU 1 204527349 204527349 single base substitution G A downstream_gene_variant MELA-AU 1 204527349 204527349 single base substitution G A intron_variant MELA-AU 1 204527417 204527417 single base substitution C T downstream_gene_variant MELA-AU 1 204527417 204527417 single base substitution C T intron_variant MELA-AU 1 204527624 204527624 single base substitution C T downstream_gene_variant MELA-AU 1 204527624 204527624 single base substitution C T intron_variant MELA-AU 1 204527739 204527740 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 204527739 204527740 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 204528726 204528726 single base substitution C A downstream_gene_variant MELA-AU 1 204528726 204528726 single base substitution C A intron_variant MELA-AU 1 204529763 204529763 single base substitution A G downstream_gene_variant MELA-AU 1 204529763 204529763 single base substitution A G intron_variant MELA-AU 1 204530460 204530460 single base substitution T G downstream_gene_variant MELA-AU 1 204530460 204530460 single base substitution T G intron_variant MELA-AU 1 204530608 204530608 single base substitution C T downstream_gene_variant MELA-AU 1 204530608 204530608 single base substitution C T intron_variant MELA-AU 1 204531734 204531734 single base substitution C T downstream_gene_variant MELA-AU 1 204531734 204531734 single base substitution C T intron_variant MELA-AU 1 204532123 204532123 single base substitution C T downstream_gene_variant MELA-AU 1 204532123 204532123 single base substitution C T intron_variant MELA-AU 1 204532284 204532284 single base substitution G A intron_variant MELA-AU 1 204532377 204532377 single base substitution T G intron_variant MELA-AU 1 204532463 204532463 single base substitution C T intron_variant MELA-AU 1 204532803 204532804 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 204532804 204532804 single base substitution C T intron_variant MELA-AU 1 204533310 204533310 single base substitution G A intron_variant MELA-AU 1 204535179 204535179 single base substitution C T intron_variant MELA-AU 1 204536698 204536698 single base substitution G T intron_variant MELA-AU 1 204537114 204537115 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 1 204537334 204537334 single base substitution C T intron_variant MELA-AU 1 204537721 204537721 single base substitution G A intron_variant MELA-AU 1 204537945 204537945 single base substitution C T intron_variant MELA-AU 1 204538439 204538439 single base substitution C T intron_variant MELA-AU 1 204539002 204539002 single base substitution C T intron_variant MELA-AU 1 204539233 204539233 single base substitution T C intron_variant MELA-AU 1 204539263 204539263 single base substitution C T intron_variant MELA-AU 1 204539271 204539271 single base substitution C T intron_variant MELA-AU 1 204539499 204539499 single base substitution T C intron_variant MELA-AU 1 204539553 204539553 single base substitution C T intron_variant MELA-AU 1 204540142 204540142 single base substitution G A intron_variant MELA-AU 1 204540359 204540360 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 204540693 204540693 single base substitution G A intron_variant MELA-AU 1 204540770 204540770 single base substitution G A intron_variant MELA-AU 1 204541196 204541196 single base substitution C T intron_variant MELA-AU 1 204541203 204541203 single base substitution T C intron_variant MELA-AU 1 204541612 204541612 single base substitution C T intron_variant MELA-AU 1 204541772 204541772 single base substitution T C intron_variant MELA-AU 1 204541871 204541871 single base substitution C T intron_variant MELA-AU 1 204541981 204541981 single base substitution C T intron_variant MELA-AU 1 204542130 204542130 single base substitution C G intron_variant MELA-AU 1 204542386 204542386 single base substitution C T intron_variant MELA-AU 1 204542387 204542387 single base substitution C T intron_variant MELA-AU 1 204542726 204542726 single base substitution C T intron_variant MELA-AU 1 204543382 204543382 single base substitution A G downstream_gene_variant MELA-AU 1 204543665 204543665 single base substitution G A downstream_gene_variant MELA-AU 1 204543906 204543906 single base substitution C T downstream_gene_variant MELA-AU 1 204544212 204544212 single base substitution G A downstream_gene_variant MELA-AU 1 204544669 204544669 single base substitution C T downstream_gene_variant MELA-AU 1 204544689 204544689 single base substitution C T downstream_gene_variant MELA-AU 1 204544727 204544727 single base substitution C T downstream_gene_variant MELA-AU 1 204544728 204544728 single base substitution C T downstream_gene_variant MELA-AU 1 204544739 204544739 single base substitution C T downstream_gene_variant MELA-AU 1 204544980 204544980 single base substitution C T downstream_gene_variant MELA-AU 1 204545001 204545001 single base substitution C T downstream_gene_variant MELA-AU 1 204545003 204545003 single base substitution C T downstream_gene_variant MELA-AU 1 204545324 204545324 single base substitution C T downstream_gene_variant MELA-AU 1 204545563 204545563 single base substitution C T downstream_gene_variant MELA-AU 1 204545943 204545943 single base substitution T C downstream_gene_variant MELA-AU 1 204546030 204546030 single base substitution G A downstream_gene_variant MELA-AU 1 204546238 204546238 single base substitution C T downstream_gene_variant MELA-AU 1 204546493 204546493 single base substitution C G downstream_gene_variant MELA-AU 1 204546747 204546747 single base substitution C T downstream_gene_variant MELA-AU 1 204546890 204546890 single base substitution T C downstream_gene_variant MELA-AU 1 204547128 204547128 single base substitution C T downstream_gene_variant MELA-AU 1 204547130 204547130 single base substitution C T downstream_gene_variant MELA-AU 1 204547137 204547137 single base substitution C T downstream_gene_variant MELA-AU 1 204547382 204547382 single base substitution C T downstream_gene_variant MELA-AU 1 204547448 204547448 single base substitution G A downstream_gene_variant MELA-AU 1 204547724 204547724 single base substitution C T downstream_gene_variant MELA-AU 1 204547743 204547743 single base substitution T A downstream_gene_variant ORCA-IN 1 204495536 204495536 single base substitution C A exon_variant ORCA-IN 1 204495536 204495536 single base substitution C A intron_variant ORCA-IN 1 204495536 204495536 single base substitution C A missense_variant Q43K 127C>A ORCA-IN 1 204518242 204518242 single base substitution A G downstream_gene_variant ORCA-IN 1 204518242 204518242 single base substitution A G intron_variant ORCA-IN 1 204518242 204518242 single base substitution A G missense_variant D187G 560A>G ORCA-IN 1 204518242 204518242 single base substitution A G missense_variant D252G 755A>G ORCA-IN 1 204518242 204518242 single base substitution A G missense_variant D302G 905A>G ORCA-IN 1 204518242 204518242 single base substitution A G missense_variant D80G 239A>G ORCA-IN 1 204518242 204518242 single base substitution A G splice_region_variant ORCA-IN 1 204518699 204518699 single base substitution G A 3_prime_UTR_variant ORCA-IN 1 204518699 204518699 single base substitution G A downstream_gene_variant ORCA-IN 1 204518699 204518699 single base substitution G A exon_variant ORCA-IN 1 204518699 204518699 single base substitution G A intron_variant ORCA-IN 1 204518699 204518699 single base substitution G A synonymous_variant T128T 384G>A ORCA-IN 1 204518699 204518699 single base substitution G A synonymous_variant T404T 1212G>A ORCA-IN 1 204518699 204518699 single base substitution G A synonymous_variant T454T 1362G>A OV-AU 1 204480805 204480805 single base substitution C A upstream_gene_variant OV-AU 1 204486785 204486785 single base substitution C T intron_variant OV-AU 1 204487288 204487288 single base substitution A T intron_variant OV-AU 1 204488076 204488076 single base substitution C T intron_variant OV-AU 1 204490358 204490358 single base substitution T A intron_variant OV-AU 1 204490358 204490358 single base substitution T A upstream_gene_variant OV-AU 1 204494820 204494820 single base substitution G C intron_variant OV-AU 1 204503942 204503942 single base substitution G T downstream_gene_variant OV-AU 1 204503942 204503942 single base substitution G T intron_variant OV-AU 1 204503942 204503942 single base substitution G T upstream_gene_variant OV-AU 1 204504529 204504529 single base substitution C T downstream_gene_variant OV-AU 1 204504529 204504529 single base substitution C T intron_variant OV-AU 1 204504529 204504529 single base substitution C T upstream_gene_variant OV-AU 1 204504995 204504995 single base substitution T C downstream_gene_variant OV-AU 1 204504995 204504995 single base substitution T C intron_variant OV-AU 1 204504995 204504995 single base substitution T C upstream_gene_variant OV-AU 1 204507397 204507397 single base substitution C G downstream_gene_variant OV-AU 1 204507397 204507397 single base substitution C G exon_variant OV-AU 1 204507397 204507397 single base substitution C G intron_variant OV-AU 1 204507397 204507397 single base substitution C G missense_variant L158V 472C>G OV-AU 1 204507397 204507397 single base substitution C G missense_variant L43V 127C>G OV-AU 1 204507397 204507397 single base substitution C G missense_variant T135S 404C>G OV-AU 1 204507397 204507397 single base substitution C G upstream_gene_variant OV-AU 1 204507710 204507710 single base substitution G A downstream_gene_variant OV-AU 1 204507710 204507710 single base substitution G A intron_variant OV-AU 1 204507710 204507710 single base substitution G A upstream_gene_variant OV-AU 1 204511239 204511239 single base substitution G T intron_variant OV-AU 1 204511239 204511239 single base substitution G T upstream_gene_variant OV-AU 1 204513862 204513862 single base substitution T C downstream_gene_variant OV-AU 1 204513862 204513862 single base substitution T C intron_variant OV-AU 1 204517240 204517240 single base substitution A T downstream_gene_variant OV-AU 1 204517240 204517240 single base substitution A T intron_variant OV-AU 1 204524623 204524623 single base substitution A G 3_prime_UTR_variant OV-AU 1 204524623 204524623 single base substitution A G downstream_gene_variant OV-AU 1 204524623 204524623 single base substitution A G intron_variant OV-AU 1 204526539 204526539 single base substitution T A 3_prime_UTR_variant OV-AU 1 204526539 204526539 single base substitution T A downstream_gene_variant OV-AU 1 204526539 204526539 single base substitution T A intron_variant OV-AU 1 204529125 204529125 single base substitution T A downstream_gene_variant OV-AU 1 204529125 204529125 single base substitution T A intron_variant OV-AU 1 204529398 204529398 single base substitution G A downstream_gene_variant OV-AU 1 204529398 204529398 single base substitution G A intron_variant OV-AU 1 204533316 204533316 single base substitution A G intron_variant OV-AU 1 204534076 204534076 single base substitution C T intron_variant OV-AU 1 204537372 204537372 single base substitution A C intron_variant OV-AU 1 204537507 204537507 single base substitution A T intron_variant OV-AU 1 204540483 204540483 single base substitution G C intron_variant OV-AU 1 204542988 204542988 single base substitution G A downstream_gene_variant PACA-AU 1 204481495 204481495 single base substitution A G upstream_gene_variant PACA-AU 1 204482504 204482504 single base substitution G T upstream_gene_variant PACA-AU 1 204482649 204482649 single base substitution C G upstream_gene_variant PACA-AU 1 204483322 204483322 single base substitution C T upstream_gene_variant PACA-AU 1 204490925 204490925 single base substitution G C intron_variant PACA-AU 1 204490925 204490925 single base substitution G C upstream_gene_variant PACA-AU 1 204490980 204490980 single base substitution A C intron_variant PACA-AU 1 204490980 204490980 single base substitution A C upstream_gene_variant PACA-AU 1 204491671 204491671 single base substitution G A intron_variant PACA-AU 1 204491671 204491671 single base substitution G A upstream_gene_variant PACA-AU 1 204493545 204493545 single base substitution C T intron_variant PACA-AU 1 204493545 204493545 single base substitution C T upstream_gene_variant PACA-AU 1 204496654 204496654 single base substitution C T intron_variant PACA-AU 1 204498380 204498380 single base substitution G A intron_variant PACA-AU 1 204502722 204502722 single base substitution G A downstream_gene_variant PACA-AU 1 204502722 204502722 single base substitution G A intron_variant PACA-AU 1 204502722 204502722 single base substitution G A upstream_gene_variant PACA-AU 1 204502914 204502914 single base substitution T C downstream_gene_variant PACA-AU 1 204502914 204502914 single base substitution T C intron_variant PACA-AU 1 204502914 204502914 single base substitution T C upstream_gene_variant PACA-AU 1 204503122 204503122 single base substitution C T downstream_gene_variant PACA-AU 1 204503122 204503122 single base substitution C T intron_variant PACA-AU 1 204503122 204503122 single base substitution C T upstream_gene_variant PACA-AU 1 204506660 204506660 single base substitution C T downstream_gene_variant PACA-AU 1 204506660 204506660 single base substitution C T intron_variant PACA-AU 1 204506660 204506660 single base substitution C T upstream_gene_variant PACA-AU 1 204506941 204506941 single base substitution A C downstream_gene_variant PACA-AU 1 204506941 204506941 single base substitution A C intron_variant PACA-AU 1 204506941 204506941 single base substitution A C upstream_gene_variant PACA-AU 1 204508911 204508911 single base substitution C A downstream_gene_variant PACA-AU 1 204508911 204508911 single base substitution C A intron_variant PACA-AU 1 204508911 204508911 single base substitution C A upstream_gene_variant PACA-AU 1 204517247 204517247 single base substitution T G downstream_gene_variant PACA-AU 1 204517247 204517247 single base substitution T G intron_variant PACA-AU 1 204527002 204527002 single base substitution A T 3_prime_UTR_variant PACA-AU 1 204527002 204527002 single base substitution A T downstream_gene_variant PACA-AU 1 204527002 204527002 single base substitution A T intron_variant PACA-AU 1 204527755 204527755 single base substitution C T downstream_gene_variant PACA-AU 1 204527755 204527755 single base substitution C T intron_variant PACA-AU 1 204533097 204533097 single base substitution A G intron_variant PACA-AU 1 204536284 204536284 single base substitution A G intron_variant PACA-AU 1 204544822 204544822 single base substitution G C downstream_gene_variant PACA-CA 1 204483114 204483114 single base substitution C T upstream_gene_variant PACA-CA 1 204490125 204490125 deletion of <=200bp A - intron_variant PACA-CA 1 204490125 204490125 deletion of <=200bp A - upstream_gene_variant PACA-CA 1 204491646 204491646 single base substitution C T intron_variant PACA-CA 1 204491646 204491646 single base substitution C T upstream_gene_variant PACA-CA 1 204492898 204492898 single base substitution C G intron_variant PACA-CA 1 204492898 204492898 single base substitution C G upstream_gene_variant PACA-CA 1 204493109 204493109 single base substitution G T intron_variant PACA-CA 1 204493109 204493109 single base substitution G T upstream_gene_variant PACA-CA 1 204495678 204495678 single base substitution G A intron_variant PACA-CA 1 204496000 204496000 single base substitution A G intron_variant PACA-CA 1 204501566 204501566 single base substitution G C exon_variant PACA-CA 1 204501566 204501566 single base substitution G C intron_variant PACA-CA 1 204503087 204503087 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 204503087 204503087 insertion of <=200bp - T intron_variant PACA-CA 1 204503087 204503087 insertion of <=200bp - T upstream_gene_variant PACA-CA 1 204504394 204504394 single base substitution T C downstream_gene_variant PACA-CA 1 204504394 204504394 single base substitution T C intron_variant PACA-CA 1 204504394 204504394 single base substitution T C upstream_gene_variant PACA-CA 1 204509116 204509116 single base substitution T G downstream_gene_variant PACA-CA 1 204509116 204509116 single base substitution T G intron_variant PACA-CA 1 204509116 204509116 single base substitution T G upstream_gene_variant PACA-CA 1 204510799 204510799 single base substitution T C downstream_gene_variant PACA-CA 1 204510799 204510799 single base substitution T C intron_variant PACA-CA 1 204510799 204510799 single base substitution T C upstream_gene_variant PACA-CA 1 204515140 204515140 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 204515140 204515140 insertion of <=200bp - T intron_variant PACA-CA 1 204518383 204518383 single base substitution T C 3_prime_UTR_variant PACA-CA 1 204518383 204518383 single base substitution T C downstream_gene_variant PACA-CA 1 204518383 204518383 single base substitution T C exon_variant PACA-CA 1 204518383 204518383 single base substitution T C intron_variant PACA-CA 1 204518383 204518383 single base substitution T C missense_variant I127T 380T>C PACA-CA 1 204518383 204518383 single base substitution T C missense_variant I299T 896T>C PACA-CA 1 204518383 204518383 single base substitution T C missense_variant I349T 1046T>C PACA-CA 1 204519509 204519509 single base substitution T C 3_prime_UTR_variant PACA-CA 1 204519509 204519509 single base substitution T C downstream_gene_variant PACA-CA 1 204519509 204519509 single base substitution T C exon_variant PACA-CA 1 204519509 204519509 single base substitution T C intron_variant PACA-CA 1 204520182 204520182 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 1 204520182 204520182 insertion of <=200bp - T downstream_gene_variant PACA-CA 1 204520182 204520182 insertion of <=200bp - T exon_variant PACA-CA 1 204520182 204520182 insertion of <=200bp - T intron_variant PACA-CA 1 204524207 204524207 single base substitution C T 3_prime_UTR_variant PACA-CA 1 204524207 204524207 single base substitution C T downstream_gene_variant PACA-CA 1 204524207 204524207 single base substitution C T intron_variant PACA-CA 1 204525973 204525973 single base substitution G C 3_prime_UTR_variant PACA-CA 1 204525973 204525973 single base substitution G C downstream_gene_variant PACA-CA 1 204525973 204525973 single base substitution G C intron_variant PACA-CA 1 204533062 204533062 single base substitution C T intron_variant PACA-CA 1 204537381 204537381 single base substitution T C intron_variant PACA-CA 1 204539096 204539096 single base substitution C G intron_variant PBCA-DE 1 204481770 204481770 single base substitution G C upstream_gene_variant PBCA-DE 1 204484101 204484101 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 204486865 204486865 single base substitution T A intron_variant PBCA-DE 1 204497178 204497178 single base substitution T C intron_variant PBCA-DE 1 204500672 204500672 single base substitution C T intron_variant PBCA-DE 1 204520588 204520593 deletion of <=200bp TCTTTT - 3_prime_UTR_variant PBCA-DE 1 204520588 204520593 deletion of <=200bp TCTTTT - downstream_gene_variant PBCA-DE 1 204520588 204520593 deletion of <=200bp TCTTTT - exon_variant PBCA-DE 1 204520588 204520593 deletion of <=200bp TCTTTT - intron_variant PBCA-DE 1 204528050 204528050 single base substitution C T downstream_gene_variant PBCA-DE 1 204528050 204528050 single base substitution C T intron_variant PBCA-DE 1 204532542 204532543 deletion of <=200bp GA - intron_variant PBCA-DE 1 204532770 204532770 single base substitution G A intron_variant PBCA-DE 1 204533300 204533300 single base substitution A G intron_variant PBCA-DE 1 204539919 204539924 deletion of <=200bp TTTTTG - intron_variant PBCA-DE 1 204547684 204547684 single base substitution A T downstream_gene_variant PRAD-CA 1 204508657 204508657 single base substitution G T downstream_gene_variant PRAD-CA 1 204508657 204508657 single base substitution G T intron_variant PRAD-CA 1 204508657 204508657 single base substitution G T upstream_gene_variant PRAD-CA 1 204518869 204518869 single base substitution C T 3_prime_UTR_variant PRAD-CA 1 204518869 204518869 single base substitution C T downstream_gene_variant PRAD-CA 1 204518869 204518869 single base substitution C T exon_variant PRAD-CA 1 204518869 204518869 single base substitution C T intron_variant PRAD-CA 1 204525611 204525611 single base substitution G T 3_prime_UTR_variant PRAD-CA 1 204525611 204525611 single base substitution G T downstream_gene_variant PRAD-CA 1 204525611 204525611 single base substitution G T intron_variant PRAD-UK 1 204524290 204524290 single base substitution T A 3_prime_UTR_variant PRAD-UK 1 204524290 204524290 single base substitution T A downstream_gene_variant PRAD-UK 1 204524290 204524290 single base substitution T A intron_variant PRAD-UK 1 204528213 204528213 insertion of <=200bp - T downstream_gene_variant PRAD-UK 1 204528213 204528213 insertion of <=200bp - T intron_variant PRAD-US 1 204513776 204513776 single base substitution A C 3_prime_UTR_variant PRAD-US 1 204513776 204513776 single base substitution A C downstream_gene_variant PRAD-US 1 204513776 204513776 single base substitution A C exon_variant PRAD-US 1 204513776 204513776 single base substitution A C intron_variant PRAD-US 1 204513776 204513776 single base substitution A C missense_variant Q147H 441A>C PRAD-US 1 204513776 204513776 single base substitution A C missense_variant Q262H 786A>C READ-US 1 204518260 204518260 single base substitution A C 3_prime_UTR_variant READ-US 1 204518260 204518260 single base substitution A C downstream_gene_variant READ-US 1 204518260 204518260 single base substitution A C exon_variant READ-US 1 204518260 204518260 single base substitution A C intron_variant READ-US 1 204518260 204518260 single base substitution A C missense_variant E193A 578A>C READ-US 1 204518260 204518260 single base substitution A C missense_variant E258A 773A>C READ-US 1 204518260 204518260 single base substitution A C missense_variant E308A 923A>C READ-US 1 204518260 204518260 single base substitution A C missense_variant E86A 257A>C RECA-EU 1 204490315 204490315 single base substitution T G intron_variant RECA-EU 1 204490315 204490315 single base substitution T G upstream_gene_variant RECA-EU 1 204498313 204498313 single base substitution T G intron_variant RECA-EU 1 204505515 204505515 single base substitution T C downstream_gene_variant RECA-EU 1 204505515 204505515 single base substitution T C intron_variant RECA-EU 1 204505515 204505515 single base substitution T C upstream_gene_variant RECA-EU 1 204506811 204506811 single base substitution C A downstream_gene_variant RECA-EU 1 204506811 204506811 single base substitution C A intron_variant RECA-EU 1 204506811 204506811 single base substitution C A upstream_gene_variant RECA-EU 1 204509718 204509718 single base substitution C T downstream_gene_variant RECA-EU 1 204509718 204509718 single base substitution C T intron_variant RECA-EU 1 204509718 204509718 single base substitution C T upstream_gene_variant RECA-EU 1 204515313 204515313 single base substitution T A downstream_gene_variant RECA-EU 1 204515313 204515313 single base substitution T A intron_variant RECA-EU 1 204518849 204518849 single base substitution T A 3_prime_UTR_variant RECA-EU 1 204518849 204518849 single base substitution T A downstream_gene_variant RECA-EU 1 204518849 204518849 single base substitution T A exon_variant RECA-EU 1 204518849 204518849 single base substitution T A intron_variant RECA-EU 1 204524581 204524581 single base substitution G A 3_prime_UTR_variant RECA-EU 1 204524581 204524581 single base substitution G A downstream_gene_variant RECA-EU 1 204524581 204524581 single base substitution G A intron_variant RECA-EU 1 204527310 204527310 single base substitution C A downstream_gene_variant RECA-EU 1 204527310 204527310 single base substitution C A intron_variant RECA-EU 1 204533251 204533251 single base substitution A G intron_variant SKCA-BR 1 204480543 204480543 single base substitution G A upstream_gene_variant SKCA-BR 1 204481797 204481797 single base substitution G A upstream_gene_variant SKCA-BR 1 204482893 204482893 single base substitution C T upstream_gene_variant SKCA-BR 1 204485407 204485407 single base substitution C T upstream_gene_variant SKCA-BR 1 204485614 204485614 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 204485614 204485614 single base substitution A G exon_variant SKCA-BR 1 204485614 204485614 single base substitution A G upstream_gene_variant SKCA-BR 1 204486369 204486369 insertion of <=200bp - CA intron_variant SKCA-BR 1 204487830 204487830 single base substitution A C intron_variant SKCA-BR 1 204489405 204489406 deletion of <=200bp CA - intron_variant SKCA-BR 1 204489495 204489495 single base substitution C T intron_variant SKCA-BR 1 204489663 204489663 single base substitution T C intron_variant SKCA-BR 1 204489663 204489663 single base substitution T C upstream_gene_variant SKCA-BR 1 204502514 204502514 insertion of <=200bp - TTCTGAAACAGGG downstream_gene_variant SKCA-BR 1 204502514 204502514 insertion of <=200bp - TTCTGAAACAGGG intron_variant SKCA-BR 1 204502514 204502514 insertion of <=200bp - TTCTGAAACAGGG upstream_gene_variant SKCA-BR 1 204502910 204502910 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 1 204502910 204502910 insertion of <=200bp - CT intron_variant SKCA-BR 1 204502910 204502910 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 1 204504950 204504950 single base substitution T A downstream_gene_variant SKCA-BR 1 204504950 204504950 single base substitution T A intron_variant SKCA-BR 1 204504950 204504950 single base substitution T A upstream_gene_variant SKCA-BR 1 204509672 204509672 single base substitution C T downstream_gene_variant SKCA-BR 1 204509672 204509672 single base substitution C T intron_variant SKCA-BR 1 204509672 204509672 single base substitution C T upstream_gene_variant SKCA-BR 1 204510035 204510035 single base substitution T G downstream_gene_variant SKCA-BR 1 204510035 204510035 single base substitution T G intron_variant SKCA-BR 1 204510035 204510035 single base substitution T G upstream_gene_variant SKCA-BR 1 204510140 204510140 single base substitution G T downstream_gene_variant SKCA-BR 1 204510140 204510140 single base substitution G T intron_variant SKCA-BR 1 204510140 204510140 single base substitution G T upstream_gene_variant SKCA-BR 1 204510431 204510431 single base substitution C T downstream_gene_variant SKCA-BR 1 204510431 204510431 single base substitution C T intron_variant SKCA-BR 1 204510431 204510431 single base substitution C T upstream_gene_variant SKCA-BR 1 204512551 204512551 single base substitution C T downstream_gene_variant SKCA-BR 1 204512551 204512551 single base substitution C T intron_variant SKCA-BR 1 204513707 204513707 single base substitution G C 3_prime_UTR_variant SKCA-BR 1 204513707 204513707 single base substitution G C downstream_gene_variant SKCA-BR 1 204513707 204513707 single base substitution G C exon_variant SKCA-BR 1 204513707 204513707 single base substitution G C intron_variant SKCA-BR 1 204513707 204513707 single base substitution G C missense_variant W124C 372G>C SKCA-BR 1 204513707 204513707 single base substitution G C missense_variant W239C 717G>C SKCA-BR 1 204515826 204515826 single base substitution G A downstream_gene_variant SKCA-BR 1 204515826 204515826 single base substitution G A intron_variant SKCA-BR 1 204515863 204515863 single base substitution C T downstream_gene_variant SKCA-BR 1 204515863 204515863 single base substitution C T intron_variant SKCA-BR 1 204517345 204517345 single base substitution C T downstream_gene_variant SKCA-BR 1 204517345 204517345 single base substitution C T intron_variant SKCA-BR 1 204517375 204517375 single base substitution G A downstream_gene_variant SKCA-BR 1 204517375 204517375 single base substitution G A intron_variant SKCA-BR 1 204519132 204519132 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 204519132 204519132 single base substitution C T downstream_gene_variant SKCA-BR 1 204519132 204519132 single base substitution C T exon_variant SKCA-BR 1 204519132 204519132 single base substitution C T intron_variant SKCA-BR 1 204521453 204521453 insertion of <=200bp - GT 3_prime_UTR_variant SKCA-BR 1 204521453 204521453 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 1 204521453 204521453 insertion of <=200bp - GT exon_variant SKCA-BR 1 204521453 204521453 insertion of <=200bp - GT intron_variant SKCA-BR 1 204522016 204522016 insertion of <=200bp - TTA 3_prime_UTR_variant SKCA-BR 1 204522016 204522016 insertion of <=200bp - TTA downstream_gene_variant SKCA-BR 1 204522016 204522016 insertion of <=200bp - TTA exon_variant SKCA-BR 1 204522016 204522016 insertion of <=200bp - TTA intron_variant SKCA-BR 1 204522018 204522018 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 204522018 204522018 single base substitution C T downstream_gene_variant SKCA-BR 1 204522018 204522018 single base substitution C T exon_variant SKCA-BR 1 204522018 204522018 single base substitution C T intron_variant SKCA-BR 1 204524767 204524767 single base substitution T G 3_prime_UTR_variant SKCA-BR 1 204524767 204524767 single base substitution T G downstream_gene_variant SKCA-BR 1 204524767 204524767 single base substitution T G intron_variant SKCA-BR 1 204525266 204525266 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 204525266 204525266 single base substitution C T downstream_gene_variant SKCA-BR 1 204525266 204525266 single base substitution C T intron_variant SKCA-BR 1 204527060 204527060 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 204527060 204527060 single base substitution C T downstream_gene_variant SKCA-BR 1 204527060 204527060 single base substitution C T intron_variant SKCA-BR 1 204532281 204532281 single base substitution C T intron_variant SKCA-BR 1 204533229 204533229 insertion of <=200bp - ATGTG intron_variant SKCA-BR 1 204534818 204534818 single base substitution G A intron_variant SKCA-BR 1 204538976 204538976 single base substitution A C intron_variant SKCA-BR 1 204541832 204541836 deletion of <=200bp CTCAA - intron_variant SKCA-BR 1 204546332 204546332 single base substitution C T downstream_gene_variant SKCM-US 1 204501329 204501329 single base substitution G A exon_variant SKCM-US 1 204501329 204501329 single base substitution G A intron_variant SKCM-US 1 204501329 204501329 single base substitution G A missense_variant D100N 298G>A SKCM-US 1 204511992 204511992 single base substitution C T 3_prime_UTR_variant SKCM-US 1 204511992 204511992 single base substitution C T exon_variant SKCM-US 1 204511992 204511992 single base substitution C T intron_variant SKCM-US 1 204511992 204511992 single base substitution C T synonymous_variant L198L 592C>T SKCM-US 1 204511992 204511992 single base substitution C T synonymous_variant L26L 76C>T SKCM-US 1 204511992 204511992 single base substitution C T synonymous_variant L83L 247C>T SKCM-US 1 204513760 204513760 single base substitution C T 3_prime_UTR_variant SKCM-US 1 204513760 204513760 single base substitution C T downstream_gene_variant SKCM-US 1 204513760 204513760 single base substitution C T exon_variant SKCM-US 1 204513760 204513760 single base substitution C T intron_variant SKCM-US 1 204513760 204513760 single base substitution C T missense_variant A142V 425C>T SKCM-US 1 204513760 204513760 single base substitution C T missense_variant A257V 770C>T SKCM-US 1 204518492 204518492 single base substitution T A 3_prime_UTR_variant SKCM-US 1 204518492 204518492 single base substitution T A downstream_gene_variant SKCM-US 1 204518492 204518492 single base substitution T A exon_variant SKCM-US 1 204518492 204518492 single base substitution T A intron_variant SKCM-US 1 204518492 204518492 single base substitution T A synonymous_variant L163L 489T>A SKCM-US 1 204518492 204518492 single base substitution T A synonymous_variant L335L 1005T>A SKCM-US 1 204518492 204518492 single base substitution T A synonymous_variant L385L 1155T>A SKCM-US 1 204518492 204518492 single base substitution T A synonymous_variant L59L 177T>A STAD-US 1 204499948 204499948 deletion of <=200bp A - intron_variant STAD-US 1 204499948 204499948 deletion of <=200bp A - splice_region_variant STAD-US 1 204506617 204506617 single base substitution C A downstream_gene_variant STAD-US 1 204506617 204506617 single base substitution C A exon_variant STAD-US 1 204506617 204506617 single base substitution C A intron_variant STAD-US 1 204506617 204506617 single base substitution C A missense_variant Q135K 403C>A STAD-US 1 204506617 204506617 single base substitution C A upstream_gene_variant STAD-US 1 204511962 204511962 single base substitution C T 3_prime_UTR_variant STAD-US 1 204511962 204511962 single base substitution C T exon_variant STAD-US 1 204511962 204511962 single base substitution C T intron_variant STAD-US 1 204511962 204511962 single base substitution C T missense_variant L16F 46C>T STAD-US 1 204511962 204511962 single base substitution C T missense_variant L188F 562C>T STAD-US 1 204511962 204511962 single base substitution C T missense_variant L73F 217C>T STAD-US 1 204512067 204512067 single base substitution A G 3_prime_UTR_variant STAD-US 1 204512067 204512067 single base substitution A G downstream_gene_variant STAD-US 1 204512067 204512067 single base substitution A G exon_variant STAD-US 1 204512067 204512067 single base substitution A G intron_variant STAD-US 1 204512067 204512067 single base substitution A G missense_variant N108D 322A>G STAD-US 1 204512067 204512067 single base substitution A G missense_variant N223D 667A>G STAD-US 1 204512067 204512067 single base substitution A G missense_variant N51D 151A>G STAD-US 1 204518448 204518448 single base substitution G A 3_prime_UTR_variant STAD-US 1 204518448 204518448 single base substitution G A downstream_gene_variant STAD-US 1 204518448 204518448 single base substitution G A exon_variant STAD-US 1 204518448 204518448 single base substitution G A intron_variant STAD-US 1 204518448 204518448 single base substitution G A missense_variant V149I 445G>A STAD-US 1 204518448 204518448 single base substitution G A missense_variant V321I 961G>A STAD-US 1 204518448 204518448 single base substitution G A missense_variant V371I 1111G>A STAD-US 1 204518448 204518448 single base substitution G A missense_variant V45I 133G>A THCA-SA 1 204526721 204526721 single base substitution G A 3_prime_UTR_variant THCA-SA 1 204526721 204526721 single base substitution G A downstream_gene_variant THCA-SA 1 204526721 204526721 single base substitution G A intron_variant UCEC-US 1 204494632 204494632 single base substitution T C 5_prime_UTR_variant UCEC-US 1 204494632 204494632 single base substitution T C exon_variant UCEC-US 1 204494632 204494632 single base substitution T C upstream_gene_variant UCEC-US 1 204499878 204499878 single base substitution G A exon_variant UCEC-US 1 204499878 204499878 single base substitution G A intron_variant UCEC-US 1 204499878 204499878 single base substitution G A missense_variant V74I 220G>A UCEC-US 1 204506581 204506581 single base substitution G A downstream_gene_variant UCEC-US 1 204506581 204506581 single base substitution G A intron_variant UCEC-US 1 204506581 204506581 single base substitution G A missense_variant A123T 367G>A UCEC-US 1 204506581 204506581 single base substitution G A splice_region_variant UCEC-US 1 204506581 204506581 single base substitution G A upstream_gene_variant UCEC-US 1 204507119 204507119 single base substitution G T downstream_gene_variant UCEC-US 1 204507119 204507119 single base substitution G T exon_variant UCEC-US 1 204507119 204507119 single base substitution G T intron_variant UCEC-US 1 204507119 204507119 single base substitution G T missense_variant E26D 78G>T UCEC-US 1 204507119 204507119 single base substitution G T upstream_gene_variant UCEC-US 1 204507384 204507384 single base substitution C T downstream_gene_variant UCEC-US 1 204507384 204507384 single base substitution C T exon_variant UCEC-US 1 204507384 204507384 single base substitution C T intron_variant UCEC-US 1 204507384 204507384 single base substitution C T stop_gained R131* 391C>T UCEC-US 1 204507384 204507384 single base substitution C T synonymous_variant D153D 459C>T UCEC-US 1 204507384 204507384 single base substitution C T synonymous_variant D38D 114C>T UCEC-US 1 204507384 204507384 single base substitution C T upstream_gene_variant UCEC-US 1 204507385 204507385 single base substitution G A downstream_gene_variant UCEC-US 1 204507385 204507385 single base substitution G A exon_variant UCEC-US 1 204507385 204507385 single base substitution G A intron_variant UCEC-US 1 204507385 204507385 single base substitution G A missense_variant D154N 460G>A UCEC-US 1 204507385 204507385 single base substitution G A missense_variant D39N 115G>A UCEC-US 1 204507385 204507385 single base substitution G A missense_variant R131Q 392G>A UCEC-US 1 204507385 204507385 single base substitution G A upstream_gene_variant UCEC-US 1 204511937 204511937 single base substitution C T 3_prime_UTR_variant UCEC-US 1 204511937 204511937 single base substitution C T exon_variant UCEC-US 1 204511937 204511937 single base substitution C T intron_variant UCEC-US 1 204511937 204511937 single base substitution C T synonymous_variant A179A 537C>T UCEC-US 1 204511937 204511937 single base substitution C T synonymous_variant A64A 192C>T UCEC-US 1 204511937 204511937 single base substitution C T synonymous_variant A7A 21C>T UCEC-US 1 204518366 204518366 single base substitution G A 3_prime_UTR_variant UCEC-US 1 204518366 204518366 single base substitution G A downstream_gene_variant UCEC-US 1 204518366 204518366 single base substitution G A exon_variant UCEC-US 1 204518366 204518366 single base substitution G A intron_variant UCEC-US 1 204518366 204518366 single base substitution G A synonymous_variant T121T 363G>A UCEC-US 1 204518366 204518366 single base substitution G A synonymous_variant T293T 879G>A UCEC-US 1 204518366 204518366 single base substitution G A synonymous_variant T343T 1029G>A UCEC-US 1 204518515 204518515 single base substitution A G 3_prime_UTR_variant UCEC-US 1 204518515 204518515 single base substitution A G downstream_gene_variant UCEC-US 1 204518515 204518515 single base substitution A G exon_variant UCEC-US 1 204518515 204518515 single base substitution A G intron_variant UCEC-US 1 204518515 204518515 single base substitution A G missense_variant E171G 512A>G UCEC-US 1 204518515 204518515 single base substitution A G missense_variant E343G 1028A>G UCEC-US 1 204518515 204518515 single base substitution A G missense_variant E393G 1178A>G UCEC-US 1 204518515 204518515 single base substitution A G missense_variant E67G 200A>G UCEC-US 1 204518768 204518768 single base substitution C T 3_prime_UTR_variant UCEC-US 1 204518768 204518768 single base substitution C T downstream_gene_variant UCEC-US 1 204518768 204518768 single base substitution C T exon_variant UCEC-US 1 204518768 204518768 single base substitution C T intron_variant UCEC-US 1 204518768 204518768 single base substitution C T synonymous_variant C151C 453C>T UCEC-US 1 204518768 204518768 single base substitution C T synonymous_variant C427C 1281C>T UCEC-US 1 204518768 204518768 single base substitution C T synonymous_variant C477C 1431C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B64 COSM1748100 c.463A>G p.I155V Substitution - Missense 1:204538260-204538260 + TCGA-ER-A19A-06 COSM3482010 c.1155T>A p.L385L Substitution - coding silent 1:204549364-204549364 + TCGA-06-0129 COSM35320 c.479C>G p.T160S Substitution - Missense 1:204538276-204538276 + YUPROST COSM1689669 c.547A>G p.T183A Substitution - Missense 1:204542819-204542819 + S02-15015-TP COSM4990521 c.895A>T p.T299S Substitution - Missense 1:204546869-204546869 + cSCCP5 COSM137795 c.440G>A p.R147K Substitution - Missense 1:204538237-204538237 + OSCC-GB_00680111 COSM4887710 c.1362G>A p.T454T Substitution - coding silent 1:204549571-204549571 + LUAD_E01319 COSM390907 c.421G>C p.E141Q Substitution - Missense 1:204538218-204538218 + DM8 COSM5611330 c.866_867CC>TT p.S289F Substitution - Missense 1:204546840-204546841 + T17 COSM5020887 c.524T>C p.I175T Substitution - Missense 1:204542796-204542796 + TCGA-NH-A5IV-01 COSM5181967 c.576G>A p.E192E Substitution - coding silent 1:204542848-204542848 + TCGA-EE-A3J3-06 COSM3864184 c.770C>T p.A257V Substitution - Missense 1:204544632-204544632 + CSCC-7-T COSM4458664 c.1094C>T p.T365I Substitution - Missense 1:204549303-204549303 + Pat_45_A COSM5845211 c.826A>G p.I276V Substitution - Missense 1:204546800-204546800 + XHDG04 COSM4767608 c.59C>G p.S20C Substitution - Missense 1:204525577-204525577 + AOCS-139-19-0 COSM3943352 c.472C>G p.L158V Substitution - Missense 1:204538269-204538269 + TCGA-BR-8680-01 COSM4027256 c.667A>G p.N223D Substitution - Missense 1:204542939-204542939 + SH-1362 COSM3997164 c.343+9C>T p.? Unknown 1:204532255-204532255 + TCGA-09-2049-01 COSM80167 c.855G>A p.E285E Substitution - coding silent 1:204546829-204546829 + TCGA-B5-A0JR-01 COSM902615 c.1365C>T p.G455G Substitution - coding silent 1:204549574-204549574 + PCSI_0090_Pa_X COSM3376933 c.1046T>C p.I349T Substitution - Missense 1:204549255-204549255 + PD4267a COSM5774544 c.701C>T p.T234I Substitution - Missense 1:204544563-204544563 + PD6619a COSM3719864 c.1067G>A p.G356E Substitution - Missense 1:204549276-204549276 + S06-38853-TP COSM4990520 c.378C>T p.H126H Substitution - coding silent 1:204537464-204537464 + TCGA-A6-6782-01 COSM1338093 c.607T>A p.L203I Substitution - Missense 1:204542879-204542879 + TCGA-AP-A051-01 COSM902612 c.537C>T p.A179A Substitution - coding silent 1:204542809-204542809 + TCGA-06-0129-01 COSM35320 c.479C>G p.T160S Substitution - Missense 1:204538276-204538276 + 1N43-VS-1T43 COSM4975609 c.965G>A p.R322H Substitution - Missense 1:204549174-204549174 + LUAD-LIP77 COSM342328 c.512-1G>T p.? Unknown 1:204542783-204542783 + HN_63080 COSM124372 c.1223C>T p.S408L Substitution - Missense 1:204549432-204549432 + AOCS-139-6-3 COSM3943352 c.472C>G p.L158V Substitution - Missense 1:204538269-204538269 + SH-7032 COSM3997164 c.343+9C>T p.? Unknown 1:204532255-204532255 + Case5a COSM1717258 c.353A>T p.Q118L Substitution - Missense 1:204537439-204537439 + TCGA-CG-5728-01 COSM282735 c.1111G>A p.V371I Substitution - Missense 1:204549320-204549320 + S12-17796-TP COSM4990518 c.102G>T p.L34F Substitution - Missense 1:204526383-204526383 + HCT-15 COSM1668393 c.227G>A p.C76Y Substitution - Missense 1:204530757-204530757 + TCGA-AO-A0JM-01 COSM425072 c.780T>G p.T260T Substitution - coding silent 1:204544642-204544642 + OSCC-GB_01040111 COSM4886163 c.127C>A p.Q43K Substitution - Missense 1:204526408-204526408 + TCGA-AX-A0J1-01 COSM902610 c.459C>T p.D153D Substitution - coding silent 1:204538256-204538256 + TCGA-AP-A059-01 COSM902614 c.1178A>G p.E393G Substitution - Missense 1:204549387-204549387 + YURAY COSM5379294 c.316C>T p.L106F Substitution - Missense 1:204532219-204532219 + KM12 COSM2214482 c.891G>T p.E297D Substitution - Missense 1:204546865-204546865 + TCGA-E9-A1N4-01 COSM1473293 c.421G>A p.E141K Substitution - Missense 1:204538218-204538218 + TCGA-HC-8262-01 COSM4392636 c.786A>C p.Q262H Substitution - Missense 1:204544648-204544648 + TCGA-AP-A059-01 COSM902613 c.1029G>A p.T343T Substitution - coding silent 1:204549238-204549238 + TCGA-AP-A059-01 COSM902608 c.220G>A p.V74I Substitution - Missense 1:204530750-204530750 + 1N31-VS-1T31 COSM4974219 c.59C>T p.S20F Substitution - Missense 1:204525577-204525577 + TCGA-AA-A010-01 COSM282735 c.1111G>A p.V371I Substitution - Missense 1:204549320-204549320 + TCGA-GI-A2C8-01 COSM1473292 c.394A>T p.S132C Substitution - Missense 1:204537480-204537480 + ESCC_60 COSM5632669 c.629A>G p.Y210C Substitution - Missense 1:204542901-204542901 + XHDG04C COSM4767608 c.59C>G p.S20C Substitution - Missense 1:204525577-204525577 + TCGA-02-0114-01 COSM1559278 c.45T>G p.S15R Substitution - Missense 1:204525563-204525563 + TCGA-CK-4951-01 COSM5146980 c.671A>T p.Q224L Substitution - Missense 1:204542943-204542943 + TCGA-AX-A0J1-01 COSM902616 c.1431C>T p.C477C Substitution - coding silent 1:204549640-204549640 + TCGA-EB-A4IS-01 COSM3482008 c.592C>T p.L198L Substitution - coding silent 1:204542864-204542864 + TCGA-AA-3833-01 COSM271386 c.851T>C p.L284P Substitution - Missense 1:204546825-204546825 + TCGA-02-0102-01 COSM1559278 c.45T>G p.S15R Substitution - Missense 1:204525563-204525563 + HCT116 COSM2214478 c.837delA p.N281fs*10 Deletion - Frameshift 1:204546811-204546811 + TCGA-18-3419-01 COSM678000 c.480C>A p.T160T Substitution - coding silent 1:204538277-204538277 + RK119_C01 COSM23543 c.1100C>T p.S367L Substitution - Missense 1:204549309-204549309 + LUAD_E01047 COSM390006 c.670C>G p.Q224E Substitution - Missense 1:204542942-204542942 + 68 COSM5014176 c.517G>C p.D173H Substitution - Missense 1:204542789-204542789 + TCGA-B5-A0JY-01 COSM902611 c.460G>A p.D154N Substitution - Missense 1:204538257-204538257 + T3658 COSM4701333 c.1080T>C p.P360P Substitution - coding silent 1:204549289-204549289 + ESO-161 COSM1257524 c.1262G>A p.R421K Substitution - Missense 1:204549471-204549471 + RK254_C01 COSM2214480 c.882C>T p.T294T Substitution - coding silent 1:204546856-204546856 + ESCC_140 COSM5643334 c.450T>G p.T150T Substitution - coding silent 1:204538247-204538247 + ESCC_60 COSM5632671 c.1418C>T p.S473L Substitution - Missense 1:204549627-204549627 + SH-7282 COSM3997164 c.343+9C>T p.? Unknown 1:204532255-204532255 + DM16 COSM5609361 c.589G>A p.G197S Substitution - Missense 1:204542861-204542861 + CHC2351T COSM5347887 c.950_952delAGA p.K317delK Deletion - In frame 1:204549159-204549161 + RK211_C01 COSM3740942 c.82C>T p.R28* Substitution - Nonsense 1:204526363-204526363 + DM10 COSM5609359 c.83G>T p.R28L Substitution - Missense 1:204526364-204526364 + HCT15 COSM1668393 c.227G>A p.C76Y Substitution - Missense 1:204530757-204530757 + Case5f COSM1717258 c.353A>T p.Q118L Substitution - Missense 1:204537439-204537439 + TCGA-BR-6852-01 COSM4027253 c.403C>A p.Q135K Substitution - Missense 1:204537489-204537489 + 585267 COSM321627 c.287+1G>T p.? Unknown 1:204530818-204530818 + 09-044 COSM305489 c.552T>C p.S184S Substitution - coding silent 1:204542824-204542824 + HT115 COSM2214468 c.697G>T p.D233Y Substitution - Missense 1:204544559-204544559 + PR-3051 COSM245628 c.677T>C p.V226A Substitution - Missense 1:204544539-204544539 + T1232 COSM4701331 c.967T>A p.C323S Substitution - Missense 1:204549176-204549176 + L12 COSM5369035 c.34A>T p.T12S Substitution - Missense 1:204525552-204525552 + Pat_60_B COSM5845209 c.803G>A p.G268E Substitution - Missense 1:204544665-204544665 + CSCC-41-T COSM2214488 c.964C>T p.R322C Substitution - Missense 1:204549173-204549173 + Case5h COSM1717258 c.353A>T p.Q118L Substitution - Missense 1:204537439-204537439 + ESO14T COSM1172092 c.1141G>C p.E381Q Substitution - Missense 1:204549350-204549350 + TCGA-GN-A267-06 COSM3482006 c.298G>A p.D100N Substitution - Missense 1:204532201-204532201 + TCGA-G2-A3IE-01 COSM1295740 c.294C>G p.L98L Substitution - coding silent 1:204532197-204532197 + CCK81 COSM2214455 c.369A>G p.A123A Substitution - coding silent 1:204537455-204537455 + TCGA-AP-A051-01 COSM902609 c.367G>A p.A123T Substitution - Missense 1:204537453-204537453 + CCK81 COSM2214472 c.800T>C p.V267A Substitution - Missense 1:204544662-204544662 + WA20 COSM237716 c.672+7T>C p.? Unknown 1:204542951-204542951 + S09-2518-TP COSM23543 c.1100C>T p.S367L Substitution - Missense 1:204549309-204549309 + SH-9161 COSM5020887 c.524T>C p.I175T Substitution - Missense 1:204542796-204542796 + S00934 COSM5662612 c.126G>T p.A42A Substitution - coding silent 1:204526407-204526407 + B64-Tumor COSM1748100 c.463A>G p.I155V Substitution - Missense 1:204538260-204538260 + CDGLIV0709A0255_T COSM5040887 c.1328G>C p.R443T Substitution - Missense 1:204549537-204549537 + LUAD-YKER9 COSM352070 c.775G>A p.D259N Substitution - Missense 1:204544637-204544637 + 32T COSM3710519 c.905A>G p.D302G Substitution - Missense 1:204549114-204549114 + TCGA-BR-6454-01 COSM4027254 c.562C>T p.L188F Substitution - Missense 1:204542834-204542834 + Case5b COSM1717258 c.353A>T p.Q118L Substitution - Missense 1:204537439-204537439 + TCGA-23-2647-01 COSM1320558 c.723G>C p.L241F Substitution - Missense 1:204544585-204544585 + SH-3133 COSM3997164 c.343+9C>T p.? Unknown 1:204532255-204532255 + SH-1362 COSM5019278 c.222A>T p.V74V Substitution - coding silent 1:204530752-204530752 + TCGA-DK-A3IL-01 COSM1295741 c.594G>A p.L198L Substitution - coding silent 1:204542866-204542866 + SNUH_G16_S1 COSM3997164 c.343+9C>T p.? Unknown 1:204532255-204532255 + Case5e COSM1717258 c.353A>T p.Q118L Substitution - Missense 1:204537439-204537439 + Case5c COSM1717258 c.353A>T p.Q118L Substitution - Missense 1:204537439-204537439 + TCGA-F5-6814-01 COSM3418636 c.923A>C p.E308A Substitution - Missense 1:204549132-204549132 + OSCC-GB_00320111 COSM3710519 c.905A>G p.D302G Substitution - Missense 1:204549114-204549114 + 07-P075 COSM4576784 c.160C>T p.H54Y Substitution - Missense 1:204530690-204530690 + BB30-HNC COSM23543 c.1100C>T p.S367L Substitution - Missense 1:204549309-204549309 + TCGA-DU-5855-01 COSM3966198 c.1012A>C p.T338P Substitution - Missense 1:204549221-204549221 + H1155 COSM1195210 c.1265C>T p.T422I Substitution - Missense 1:204549474-204549474 + TCGA-WS-AB45-01 COSM5189312 c.467C>A p.P156H Substitution - Missense 1:204538264-204538264 + TCGA-D8-A1JK-01 COSM1473291 c.143_144delCT p.T48fs*2 Deletion - Frameshift 1:204526424-204526425 + CHEWS033 COSM4576786 c.1232G>A p.G411E Substitution - Missense 1:204549441-204549441 + PT49 COSM23543 c.1100C>T p.S367L Substitution - Missense 1:204549309-204549309 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.497492 1q32 602704

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q262H c.786A>C 1 204513776 PRAD A C Missense p.T338P c.1012A>C 1 204518349 LGG A T Missense p.S132C c.394A>T 1 204506608 BRCA C A Missense p.Q135K c.403C>A 1 204506617 STAD C A Synonymous p.T160T c.480C>A 1 204507405 LUSC C G Missense p.T160S c.479C>G 1 204507404 GBM C G Synonymous p.L98L c.294C>G 1 204501325 BLCA CT - Frameshift p.T48Sfs*2 c.143_144delCT 1 204495552 BRCA C T Missense p.A257V c.770C>T 1 204513760 CM C T Missense p.L188F c.562C>T 1 204511962 STAD C T Missense p.S289F c.866C>T 1 204515968 CM C T Missense p.S408L c.1223C>T 1 204518560 HNSC C T Synonymous p.V370V c.1110C>T 1 204518447 CM G A Missense p.D100N c.298G>A 1 204501329 CM G A Missense p.E141K c.421G>A 1 204507346 BRCA G A Missense p.V371I c.1111G>A 1 204518448 STAD G A Synonymous p.E285E c.855G>A 1 204515957 OV G A Synonymous p.L198L c.594G>A 1 204511994 BLCA G - IntronicDeletion . c.154-1073delG 1 204498732 CM G T SpliceDonorSNV . c.287+1G>T 1 204499946 SCLC - T 3-UTRInsertion . c.1470+2663dupT 1 204521454 STAD T A Synonymous p.L385L c.1155T>A 1 204518492 CM T C 5-UTRSNV . c.1-15T>C 1 204494632 UCEC T C IntronicSNV . c.154-1216T>C 1 204498596 CM T C IntronicSNV . c.343+530T>C 1 204501904 STAD T G Synonymous p.T260T c.780T>G 1 204513770 BRCA