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 20 36012573 36012573 + Missense_Mutation SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr20:36012573G>A c.17G>A c.(16-18)aGc>aAc p.S6N BLCA 20 36012632 36012632 + Missense_Mutation SNP G G A TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 g.chr20:36012632G>A c.76G>A c.(76-78)Ggc>Agc p.G26S BLCA 20 36014528 36014528 + Missense_Mutation SNP A A G TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 g.chr20:36014528A>G c.301A>G c.(301-303)Aca>Gca p.T101A BLCA 20 36022668 36022668 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr20:36022668G>A c.541G>A c.(541-543)Gag>Aag p.E181K BLCA 20 36030892 36030892 + Missense_Mutation SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr20:36030892C>T c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C BLCA 20 36031195 36031195 + Silent SNP C C G TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr20:36031195C>G c.1314C>G c.(1312-1314)ctC>ctG p.L438L BRCA 20 36024662 36024662 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr20:36024662C>T c.651C>T c.(649-651)atC>atT p.I217I BRCA 20 36026204 36026204 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr20:36026204C>T c.806C>T c.(805-807)tCg>tTg p.S269L COAD 20 36022368 36022368 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr20:36022368G>A c.421G>A c.(421-423)Gcg>Acg p.A141T COAD 20 36022370 36022370 + Silent SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr20:36022370G>A c.423G>A c.(421-423)gcG>gcA p.A141A COAD 20 36022370 36022370 + Silent SNP G G T TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr20:36022370G>T c.423G>T c.(421-423)gcG>gcT p.A141A COAD 20 36024599 36024599 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr20:36024599C>T c.588C>T c.(586-588)aaC>aaT p.N196N COAD 20 36024647 36024647 + Silent SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr20:36024647C>T c.636C>T c.(634-636)agC>agT p.S212S COAD 20 36024692 36024692 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr20:36024692G>A c.681G>A c.(679-681)caG>caA p.Q227Q COAD 20 36026211 36026211 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr20:36026211G>A c.813G>A c.(811-813)cgG>cgA p.R271R COAD 20 36028676 36028676 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr20:36028676G>A c.1018G>A c.(1018-1020)Gtc>Atc p.V340I COAD 20 36030982 36030982 + Missense_Mutation SNP G G T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr20:36030982G>T c.1261G>T c.(1261-1263)Gcg>Tcg p.A421S COADREAD 20 36022368 36022368 + Missense_Mutation SNP G G A TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr20:36022368G>A c.421G>A c.(421-423)Gcg>Acg p.A141T COADREAD 20 36022370 36022370 + Silent SNP G G A TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr20:36022370G>A c.423G>A c.(421-423)gcG>gcA p.A141A COADREAD 20 36022370 36022370 + Silent SNP G G T TCGA-AA-A00K-01A-02W-A005-10 TCGA-AA-A00K-10A-01W-A005-10 g.chr20:36022370G>T c.423G>T c.(421-423)gcG>gcT p.A141A COADREAD 20 36024599 36024599 + Silent SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr20:36024599C>T c.588C>T c.(586-588)aaC>aaT p.N196N COADREAD 20 36024647 36024647 + Silent SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr20:36024647C>T c.636C>T c.(634-636)agC>agT p.S212S COADREAD 20 36024692 36024692 + Silent SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr20:36024692G>A c.681G>A c.(679-681)caG>caA p.Q227Q COADREAD 20 36026211 36026211 + Silent SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr20:36026211G>A c.813G>A c.(811-813)cgG>cgA p.R271R COADREAD 20 36028676 36028676 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr20:36028676G>A c.1018G>A c.(1018-1020)Gtc>Atc p.V340I COADREAD 20 36030982 36030982 + Missense_Mutation SNP G G T TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr20:36030982G>T c.1261G>T c.(1261-1263)Gcg>Tcg p.A421S ESCA 20 36030930 36030930 + Silent SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chr20:36030930C>T c.1209C>T c.(1207-1209)tgC>tgT p.C403C GBM 20 36026230 36026230 + Missense_Mutation SNP C C G TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr20:36026230C>G c.832C>G c.(832-834)Cag>Gag p.Q278E GBM 20 36030005 36030005 + Splice_Site SNP G G A TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr20:36030005G>A c.1040G>A c.(1039-1041)gGg>gAg p.G347E GBMLGG 20 36026230 36026230 + Missense_Mutation SNP C C G TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr20:36026230C>G c.832C>G c.(832-834)Cag>Gag p.Q278E GBMLGG 20 36030005 36030005 + Splice_Site SNP G G A TCGA-19-2631-01A-01D-1353-08 TCGA-19-2631-10B-01D-1353-08 g.chr20:36030005G>A c.1040G>A c.(1039-1041)gGg>gAg p.G347E HNSC 20 36012652 36012652 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr20:36012652C>T c.96C>T c.(94-96)ttC>ttT p.F32F HNSC 20 36012655 36012655 + Silent SNP C C T TCGA-CQ-6225-01A-11D-1912-08 TCGA-CQ-6225-10A-01D-1912-08 g.chr20:36012655C>T c.99C>T c.(97-99)ccC>ccT p.P33P HNSC 20 36031234 36031234 + Missense_Mutation SNP C C A TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr20:36031234C>A c.1353C>A c.(1351-1353)ttC>ttA p.F451L KICH 20 36022638 36022638 + Missense_Mutation SNP C C T TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr20:36022638C>T c.511C>T c.(511-513)Ccg>Tcg p.P171S KIPAN 20 36022638 36022638 + Missense_Mutation SNP C C T TCGA-KN-8431-01A-11D-2310-10 TCGA-KN-8431-11A-01D-2311-10 g.chr20:36022638C>T c.511C>T c.(511-513)Ccg>Tcg p.P171S KIPAN 20 36024602 36024602 + Silent SNP C C A TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr20:36024602C>A c.591C>A c.(589-591)gcC>gcA p.A197A KIRC 20 36024602 36024602 + Silent SNP C C A TCGA-BP-4976-01A-01D-1462-08 TCGA-BP-4976-11A-01D-1462-08 g.chr20:36024602C>A c.591C>A c.(589-591)gcC>gcA p.A197A LIHC 20 36014520 36014520 + Missense_Mutation SNP G G T TCGA-DD-AAW1-01A-11D-A40P-10 TCGA-DD-AAW1-10A-01D-A40P-10 g.chr20:36014520G>T c.293G>T c.(292-294)aGg>aTg p.R98M LIHC 20 36022608 36022608 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr20:36022608T>C c.481T>C c.(481-483)Tca>Cca p.S161P LIHC 20 36028552 36028552 + Silent SNP A A G TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr20:36028552A>G c.894A>G c.(892-894)aaA>aaG p.K298K LIHC 20 36031248 36031248 + Missense_Mutation SNP C C G TCGA-ED-A5KG-01A-11D-A27I-10 TCGA-ED-A5KG-10A-01D-A27I-10 g.chr20:36031248C>G c.1367C>G c.(1366-1368)aCt>aGt p.T456S LUAD 20 36022655 36022655 + Silent SNP C C T TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr20:36022655C>T c.528C>T c.(526-528)ctC>ctT p.L176L LUAD 20 36026134 36026134 + Missense_Mutation SNP A A T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr20:36026134A>T c.736A>T c.(736-738)Acc>Tcc p.T246S LUAD 20 36028594 36028594 + Missense_Mutation SNP G G T TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr20:36028594G>T c.936G>T c.(934-936)caG>caT p.Q312H LUAD 20 36031656 36031656 + Silent SNP C C T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr20:36031656C>T c.1485C>T c.(1483-1485)caC>caT p.H495H OV 20 36022358 36022358 + Silent SNP C C T TCGA-36-2533-01A-01D-1526-09 TCGA-36-2533-10A-01D-1526-09 g.chr20:36022358C>T c.411C>T c.(409-411)agC>agT p.S137S OV 20 36030940 36030940 + Missense_Mutation SNP G G C TCGA-04-1525-01A-01W-0615-10 TCGA-04-1525-10A-01W-0615-10 g.chr20:36030940G>C c.1219G>C c.(1219-1221)Gac>Cac p.D407H PAAD 20 36030016 36030016 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr20:36030016G>A c.1051G>A c.(1051-1053)Gac>Aac p.D351N SKCM 20 36022382 36022382 + Silent SNP C C T TCGA-FS-A1YY-06A-11D-A197-08 TCGA-FS-A1YY-10A-01D-A199-08 g.chr20:36022382C>T c.435C>T c.(433-435)tcC>tcT p.S145S SKCM 20 36022652 36022652 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr20:36022652C>T c.525C>T c.(523-525)ttC>ttT p.F175F SKCM 20 36028624 36028624 + Silent SNP T T C TCGA-GN-A4U9-06A-11D-A32N-08 TCGA-GN-A4U9-10B-01D-A32N-08 g.chr20:36028624T>C c.966T>C c.(964-966)caT>caC p.H322H SKCM 20 36028682 36028682 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr20:36028682G>A c.1024G>A c.(1024-1026)Gag>Aag p.E342K SKCM 20 36030030 36030030 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr20:36030030G>A c.1065G>A c.(1063-1065)ggG>ggA p.G355G SKCM 20 36031649 36031649 + Missense_Mutation SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr20:36031649C>T c.1478C>T c.(1477-1479)tCc>tTc p.S493F SKCM 20 36031704 36031704 + Silent SNP C C T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr20:36031704C>T c.1533C>T c.(1531-1533)acC>acT p.T511T SKCM 20 36031707 36031707 + Silent SNP C C T TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr20:36031707C>T c.1536C>T c.(1534-1536)ttC>ttT p.F512F SKCM 20 36031725 36031725 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr20:36031725C>T c.1554C>T c.(1552-1554)ttC>ttT p.F518F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 20 36012573 36012573 single base substitution G A downstream_gene_variant BLCA-US 20 36012573 36012573 single base substitution G A missense_variant S6N 17G>A BLCA-US 20 36012573 36012573 single base substitution G A upstream_gene_variant BLCA-US 20 36012632 36012632 single base substitution G A downstream_gene_variant BLCA-US 20 36012632 36012632 single base substitution G A missense_variant G26S 76G>A BLCA-US 20 36012632 36012632 single base substitution G A upstream_gene_variant BLCA-US 20 36022668 36022668 single base substitution G A downstream_gene_variant BLCA-US 20 36022668 36022668 single base substitution G A exon_variant BLCA-US 20 36022668 36022668 single base substitution G A missense_variant E181K 541G>A BLCA-US 20 36022668 36022668 single base substitution G A missense_variant E187K 559G>A BLCA-US 20 36022668 36022668 single base substitution G A upstream_gene_variant BLCA-US 20 36030892 36030892 single base substitution C T downstream_gene_variant BLCA-US 20 36030892 36030892 single base substitution C T exon_variant BLCA-US 20 36030892 36030892 single base substitution C T missense_variant R391C 1171C>T BLCA-US 20 36030892 36030892 single base substitution C T missense_variant R397C 1189C>T BRCA-EU 20 35969215 35969215 single base substitution C T upstream_gene_variant BRCA-EU 20 35969588 35969588 single base substitution C T upstream_gene_variant BRCA-EU 20 35970046 35970046 insertion of <=200bp - C upstream_gene_variant BRCA-EU 20 35972133 35972133 single base substitution G C upstream_gene_variant BRCA-EU 20 35973647 35973647 single base substitution G A intron_variant BRCA-EU 20 35973647 35973647 single base substitution G A upstream_gene_variant BRCA-EU 20 35975416 35975416 single base substitution C T intron_variant BRCA-EU 20 35978641 35978641 single base substitution G T intron_variant BRCA-EU 20 35979930 35979930 single base substitution G T intron_variant BRCA-EU 20 35980431 35980431 single base substitution C T intron_variant BRCA-EU 20 35981802 35981802 single base substitution A C intron_variant BRCA-EU 20 35985333 35985333 single base substitution G A intron_variant BRCA-EU 20 35986429 35986429 single base substitution G C intron_variant BRCA-EU 20 35988496 35988496 single base substitution A G intron_variant BRCA-EU 20 35991120 35991120 single base substitution G A intron_variant BRCA-EU 20 35991482 35991482 single base substitution C T intron_variant BRCA-EU 20 35995602 35995602 single base substitution A G intron_variant BRCA-EU 20 35998211 35998211 deletion of <=200bp T - intron_variant BRCA-EU 20 35998436 35998436 single base substitution C T intron_variant BRCA-EU 20 35998444 35998444 single base substitution C T intron_variant BRCA-EU 20 35998518 35998518 single base substitution C A intron_variant BRCA-EU 20 35998699 35998699 single base substitution T C intron_variant BRCA-EU 20 35998892 35998892 single base substitution C T intron_variant BRCA-EU 20 35998922 35998922 single base substitution G A intron_variant BRCA-EU 20 36000312 36000312 single base substitution G A intron_variant BRCA-EU 20 36000542 36000542 single base substitution C A intron_variant BRCA-EU 20 36000573 36000573 insertion of <=200bp - GT intron_variant BRCA-EU 20 36001922 36001922 single base substitution C T intron_variant BRCA-EU 20 36002708 36002708 single base substitution C G intron_variant BRCA-EU 20 36003952 36003952 deletion of <=200bp T - intron_variant BRCA-EU 20 36003952 36003952 insertion of <=200bp - T intron_variant BRCA-EU 20 36004903 36004904 deletion of <=200bp TA - intron_variant BRCA-EU 20 36005112 36005112 single base substitution G A intron_variant BRCA-EU 20 36005392 36005392 single base substitution C T intron_variant BRCA-EU 20 36005871 36005871 single base substitution G A intron_variant BRCA-EU 20 36006266 36006266 single base substitution C T intron_variant BRCA-EU 20 36006266 36006266 single base substitution C T upstream_gene_variant BRCA-EU 20 36006682 36006682 single base substitution C T intron_variant BRCA-EU 20 36006682 36006682 single base substitution C T upstream_gene_variant BRCA-EU 20 36006734 36006734 single base substitution T C intron_variant BRCA-EU 20 36006734 36006734 single base substitution T C upstream_gene_variant BRCA-EU 20 36007329 36007329 single base substitution C A intron_variant BRCA-EU 20 36007329 36007329 single base substitution C A upstream_gene_variant BRCA-EU 20 36008617 36008617 single base substitution G A intron_variant BRCA-EU 20 36008617 36008617 single base substitution G A upstream_gene_variant BRCA-EU 20 36008644 36008644 single base substitution A G intron_variant BRCA-EU 20 36008644 36008644 single base substitution A G upstream_gene_variant BRCA-EU 20 36009174 36009174 single base substitution G A intron_variant BRCA-EU 20 36009174 36009174 single base substitution G A upstream_gene_variant BRCA-EU 20 36009269 36009269 deletion of <=200bp T - intron_variant BRCA-EU 20 36009269 36009269 deletion of <=200bp T - upstream_gene_variant BRCA-EU 20 36009350 36009350 single base substitution C T intron_variant BRCA-EU 20 36009350 36009350 single base substitution C T upstream_gene_variant BRCA-EU 20 36011318 36011318 single base substitution C T downstream_gene_variant BRCA-EU 20 36011318 36011318 single base substitution C T intron_variant BRCA-EU 20 36011318 36011318 single base substitution C T upstream_gene_variant BRCA-EU 20 36017230 36017230 single base substitution G A intron_variant BRCA-EU 20 36017230 36017230 single base substitution G A upstream_gene_variant BRCA-EU 20 36018630 36018630 single base substitution C T intron_variant BRCA-EU 20 36018630 36018630 single base substitution C T upstream_gene_variant BRCA-EU 20 36018650 36018650 single base substitution C T intron_variant BRCA-EU 20 36018650 36018650 single base substitution C T upstream_gene_variant BRCA-EU 20 36019945 36019945 single base substitution C T intron_variant BRCA-EU 20 36019945 36019945 single base substitution C T upstream_gene_variant BRCA-EU 20 36020078 36020078 single base substitution G A intron_variant BRCA-EU 20 36020078 36020078 single base substitution G A upstream_gene_variant BRCA-EU 20 36021461 36021461 single base substitution C T intron_variant BRCA-EU 20 36021461 36021461 single base substitution C T upstream_gene_variant BRCA-EU 20 36021794 36021794 single base substitution G C intron_variant BRCA-EU 20 36021794 36021794 single base substitution G C upstream_gene_variant BRCA-EU 20 36022233 36022233 single base substitution G A exon_variant BRCA-EU 20 36022233 36022233 single base substitution G A intron_variant BRCA-EU 20 36022233 36022233 single base substitution G A upstream_gene_variant BRCA-EU 20 36023267 36023267 single base substitution C T downstream_gene_variant BRCA-EU 20 36023267 36023267 single base substitution C T intron_variant BRCA-EU 20 36023267 36023267 single base substitution C T upstream_gene_variant BRCA-EU 20 36024715 36024715 single base substitution G A downstream_gene_variant BRCA-EU 20 36024715 36024715 single base substitution G A splice_donor_variant BRCA-EU 20 36024715 36024715 single base substitution G A upstream_gene_variant BRCA-EU 20 36025402 36025402 single base substitution C T downstream_gene_variant BRCA-EU 20 36025402 36025402 single base substitution C T intron_variant BRCA-EU 20 36025402 36025402 single base substitution C T upstream_gene_variant BRCA-EU 20 36025756 36025756 single base substitution C T downstream_gene_variant BRCA-EU 20 36025756 36025756 single base substitution C T intron_variant BRCA-EU 20 36025756 36025756 single base substitution C T upstream_gene_variant BRCA-EU 20 36025879 36025890 deletion of <=200bp CTGAATGACTGA - downstream_gene_variant BRCA-EU 20 36025879 36025890 deletion of <=200bp CTGAATGACTGA - intron_variant BRCA-EU 20 36025879 36025890 deletion of <=200bp CTGAATGACTGA - upstream_gene_variant BRCA-EU 20 36026351 36026351 single base substitution C T downstream_gene_variant BRCA-EU 20 36026351 36026351 single base substitution C T intron_variant BRCA-EU 20 36026351 36026351 single base substitution C T upstream_gene_variant BRCA-EU 20 36026523 36026523 single base substitution G T downstream_gene_variant BRCA-EU 20 36026523 36026523 single base substitution G T intron_variant BRCA-EU 20 36026523 36026523 single base substitution G T upstream_gene_variant BRCA-EU 20 36026776 36026776 single base substitution A T downstream_gene_variant BRCA-EU 20 36026776 36026776 single base substitution A T intron_variant BRCA-EU 20 36026776 36026776 single base substitution A T upstream_gene_variant BRCA-EU 20 36028829 36028829 single base substitution C T downstream_gene_variant BRCA-EU 20 36028829 36028829 single base substitution C T intron_variant BRCA-EU 20 36028829 36028829 single base substitution C T upstream_gene_variant BRCA-EU 20 36029524 36029524 single base substitution C G downstream_gene_variant BRCA-EU 20 36029524 36029524 single base substitution C G intron_variant BRCA-EU 20 36029524 36029524 single base substitution C G upstream_gene_variant BRCA-EU 20 36029957 36029957 single base substitution T C downstream_gene_variant BRCA-EU 20 36029957 36029957 single base substitution T C intron_variant BRCA-EU 20 36029957 36029957 single base substitution T C upstream_gene_variant BRCA-EU 20 36031222 36031222 single base substitution C T downstream_gene_variant BRCA-EU 20 36031222 36031222 single base substitution C T exon_variant BRCA-EU 20 36031222 36031222 single base substitution C T synonymous_variant D447D 1341C>T BRCA-EU 20 36031222 36031222 single base substitution C T synonymous_variant D453D 1359C>T BRCA-EU 20 36032443 36032443 single base substitution C T 3_prime_UTR_variant BRCA-EU 20 36032443 36032443 single base substitution C T downstream_gene_variant BRCA-EU 20 36032443 36032443 single base substitution C T exon_variant BRCA-EU 20 36033571 36033571 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 20 36033571 36033571 deletion of <=200bp C - downstream_gene_variant BRCA-EU 20 36033571 36033571 deletion of <=200bp C - exon_variant BRCA-EU 20 36033755 36033755 single base substitution G C 3_prime_UTR_variant BRCA-EU 20 36033755 36033755 single base substitution G C downstream_gene_variant BRCA-EU 20 36033755 36033755 single base substitution G C exon_variant BRCA-EU 20 36034841 36034841 single base substitution T A downstream_gene_variant BRCA-EU 20 36037824 36037824 single base substitution T C downstream_gene_variant BRCA-EU 20 36039029 36039029 single base substitution C T downstream_gene_variant BRCA-FR 20 35975416 35975416 single base substitution C T intron_variant BRCA-FR 20 35979930 35979930 single base substitution G T intron_variant BRCA-FR 20 35986429 35986429 single base substitution G C intron_variant BRCA-FR 20 35988496 35988496 single base substitution A G intron_variant BRCA-FR 20 35990960 35990960 single base substitution G T intron_variant BRCA-FR 20 35998699 35998699 single base substitution T C intron_variant BRCA-FR 20 36001922 36001922 single base substitution C T intron_variant BRCA-FR 20 36002708 36002708 single base substitution C G intron_variant BRCA-FR 20 36006734 36006734 single base substitution T C intron_variant BRCA-FR 20 36006734 36006734 single base substitution T C upstream_gene_variant BRCA-FR 20 36007329 36007329 single base substitution C A intron_variant BRCA-FR 20 36007329 36007329 single base substitution C A upstream_gene_variant BRCA-FR 20 36009965 36009965 single base substitution C T intron_variant BRCA-FR 20 36009965 36009965 single base substitution C T upstream_gene_variant BRCA-FR 20 36015251 36015251 single base substitution C T downstream_gene_variant BRCA-FR 20 36015251 36015251 single base substitution C T intron_variant BRCA-FR 20 36025402 36025402 single base substitution C T downstream_gene_variant BRCA-FR 20 36025402 36025402 single base substitution C T intron_variant BRCA-FR 20 36025402 36025402 single base substitution C T upstream_gene_variant BRCA-FR 20 36032443 36032443 single base substitution C T 3_prime_UTR_variant BRCA-FR 20 36032443 36032443 single base substitution C T downstream_gene_variant BRCA-FR 20 36032443 36032443 single base substitution C T exon_variant BRCA-FR 20 36037824 36037824 single base substitution T C downstream_gene_variant BRCA-UK 20 35975849 35975849 single base substitution C T intron_variant BRCA-UK 20 36013158 36013158 single base substitution C T downstream_gene_variant BRCA-UK 20 36013158 36013158 single base substitution C T intron_variant BRCA-US 20 36022255 36022255 single base substitution A G exon_variant BRCA-US 20 36022255 36022255 single base substitution A G intron_variant BRCA-US 20 36022255 36022255 single base substitution A G upstream_gene_variant BRCA-US 20 36024662 36024662 single base substitution C T downstream_gene_variant BRCA-US 20 36024662 36024662 single base substitution C T exon_variant BRCA-US 20 36024662 36024662 single base substitution C T synonymous_variant I217I 651C>T BRCA-US 20 36024662 36024662 single base substitution C T synonymous_variant I223I 669C>T BRCA-US 20 36024662 36024662 single base substitution C T upstream_gene_variant BRCA-US 20 36026204 36026204 single base substitution C T downstream_gene_variant BRCA-US 20 36026204 36026204 single base substitution C T exon_variant BRCA-US 20 36026204 36026204 single base substitution C T missense_variant S269L 806C>T BRCA-US 20 36026204 36026204 single base substitution C T missense_variant S275L 824C>T BRCA-US 20 36026204 36026204 single base substitution C T upstream_gene_variant BRCA-US 20 36032156 36032156 single base substitution C T 3_prime_UTR_variant BRCA-US 20 36032156 36032156 single base substitution C T downstream_gene_variant BRCA-US 20 36032156 36032156 single base substitution C T exon_variant BRCA-US 20 36032817 36032817 single base substitution G C 3_prime_UTR_variant BRCA-US 20 36032817 36032817 single base substitution G C downstream_gene_variant BRCA-US 20 36032817 36032817 single base substitution G C exon_variant BRCA-US 20 36033505 36033505 single base substitution C T 3_prime_UTR_variant BRCA-US 20 36033505 36033505 single base substitution C T downstream_gene_variant BRCA-US 20 36033505 36033505 single base substitution C T exon_variant BTCA-JP 20 36024728 36024728 single base substitution G A downstream_gene_variant BTCA-JP 20 36024728 36024728 single base substitution G A intron_variant BTCA-JP 20 36024728 36024728 single base substitution G A upstream_gene_variant BTCA-JP 20 36024781 36024781 single base substitution C A downstream_gene_variant BTCA-JP 20 36024781 36024781 single base substitution C A intron_variant BTCA-JP 20 36024781 36024781 single base substitution C A upstream_gene_variant BTCA-JP 20 36031368 36031368 single base substitution T G downstream_gene_variant BTCA-JP 20 36031368 36031368 single base substitution T G exon_variant BTCA-JP 20 36031368 36031368 single base substitution T G intron_variant CESC-US 20 36031920 36031920 single base substitution C G 3_prime_UTR_variant CESC-US 20 36031920 36031920 single base substitution C G downstream_gene_variant CESC-US 20 36031920 36031920 single base substitution C G exon_variant CESC-US 20 36032761 36032761 single base substitution G T 3_prime_UTR_variant CESC-US 20 36032761 36032761 single base substitution G T downstream_gene_variant CESC-US 20 36032761 36032761 single base substitution G T exon_variant CESC-US 20 36033164 36033164 single base substitution G C 3_prime_UTR_variant CESC-US 20 36033164 36033164 single base substitution G C downstream_gene_variant CESC-US 20 36033164 36033164 single base substitution G C exon_variant CESC-US 20 36033336 36033336 single base substitution G T 3_prime_UTR_variant CESC-US 20 36033336 36033336 single base substitution G T downstream_gene_variant CESC-US 20 36033336 36033336 single base substitution G T exon_variant CLLE-ES 20 35972941 35972941 single base substitution G A upstream_gene_variant CLLE-ES 20 35997595 35997595 single base substitution T G intron_variant CLLE-ES 20 36006595 36006595 single base substitution T G intron_variant CLLE-ES 20 36006595 36006595 single base substitution T G upstream_gene_variant CLLE-ES 20 36014026 36014026 single base substitution G A downstream_gene_variant CLLE-ES 20 36014026 36014026 single base substitution G A intron_variant COAD-US 20 36024599 36024599 single base substitution C T downstream_gene_variant COAD-US 20 36024599 36024599 single base substitution C T exon_variant COAD-US 20 36024599 36024599 single base substitution C T synonymous_variant N196N 588C>T COAD-US 20 36024599 36024599 single base substitution C T synonymous_variant N202N 606C>T COAD-US 20 36024599 36024599 single base substitution C T upstream_gene_variant COAD-US 20 36024692 36024692 single base substitution G A downstream_gene_variant COAD-US 20 36024692 36024692 single base substitution G A exon_variant COAD-US 20 36024692 36024692 single base substitution G A synonymous_variant Q227Q 681G>A COAD-US 20 36024692 36024692 single base substitution G A synonymous_variant Q233Q 699G>A COAD-US 20 36024692 36024692 single base substitution G A upstream_gene_variant COAD-US 20 36031742 36031742 single base substitution C T downstream_gene_variant COAD-US 20 36031742 36031742 single base substitution C T exon_variant COAD-US 20 36031742 36031742 single base substitution C T missense_variant T524M 1571C>T COAD-US 20 36031742 36031742 single base substitution C T missense_variant T530M 1589C>T COCA-CN 20 35968794 35968794 single base substitution C A upstream_gene_variant COCA-CN 20 36012684 36012684 single base substitution C T downstream_gene_variant COCA-CN 20 36012684 36012684 single base substitution C T missense_variant S43L 128C>T COCA-CN 20 36012684 36012684 single base substitution C T upstream_gene_variant COCA-CN 20 36022154 36022154 single base substitution T C exon_variant COCA-CN 20 36022154 36022154 single base substitution T C intron_variant COCA-CN 20 36022154 36022154 single base substitution T C upstream_gene_variant COCA-CN 20 36022561 36022561 single base substitution G A exon_variant COCA-CN 20 36022561 36022561 single base substitution G A intron_variant COCA-CN 20 36022561 36022561 single base substitution G A upstream_gene_variant COCA-CN 20 36026313 36026313 single base substitution G A downstream_gene_variant COCA-CN 20 36026313 36026313 single base substitution G A intron_variant COCA-CN 20 36026313 36026313 single base substitution G A upstream_gene_variant COCA-CN 20 36030098 36030098 single base substitution C A downstream_gene_variant COCA-CN 20 36030098 36030098 single base substitution C A exon_variant COCA-CN 20 36030098 36030098 single base substitution C A intron_variant COCA-CN 20 36030098 36030098 single base substitution C A upstream_gene_variant EOPC-DE 20 36032889 36032889 single base substitution G T 3_prime_UTR_variant EOPC-DE 20 36032889 36032889 single base substitution G T downstream_gene_variant EOPC-DE 20 36032889 36032889 single base substitution G T exon_variant ESAD-UK 20 35968685 35968685 single base substitution T C upstream_gene_variant ESAD-UK 20 35976867 35976867 single base substitution G A intron_variant ESAD-UK 20 35980136 35980136 single base substitution C T intron_variant ESAD-UK 20 35984075 35984075 single base substitution G A intron_variant ESAD-UK 20 35987526 35987526 single base substitution C T intron_variant ESAD-UK 20 35988308 35988308 single base substitution T G intron_variant ESAD-UK 20 35991399 35991399 single base substitution C T intron_variant ESAD-UK 20 35992035 35992035 single base substitution A G intron_variant ESAD-UK 20 35992212 35992212 single base substitution G A intron_variant ESAD-UK 20 35992458 35992458 single base substitution C T intron_variant ESAD-UK 20 35995937 35995937 single base substitution C T intron_variant ESAD-UK 20 35997901 35997901 single base substitution C T intron_variant ESAD-UK 20 35998935 35998935 single base substitution G A intron_variant ESAD-UK 20 36000142 36000142 single base substitution T G intron_variant ESAD-UK 20 36001480 36001480 single base substitution T C intron_variant ESAD-UK 20 36001554 36001554 single base substitution C T intron_variant ESAD-UK 20 36001672 36001673 deletion of <=200bp CA - intron_variant ESAD-UK 20 36001749 36001750 deletion of <=200bp AT - intron_variant ESAD-UK 20 36001822 36001823 deletion of <=200bp AT - intron_variant ESAD-UK 20 36001866 36001867 deletion of <=200bp AC - intron_variant ESAD-UK 20 36002245 36002245 single base substitution G A intron_variant ESAD-UK 20 36002430 36002431 deletion of <=200bp TT - intron_variant ESAD-UK 20 36002462 36002462 single base substitution C T intron_variant ESAD-UK 20 36002820 36002820 single base substitution C T intron_variant ESAD-UK 20 36003356 36003356 single base substitution C T intron_variant ESAD-UK 20 36004903 36004904 deletion of <=200bp TA - intron_variant ESAD-UK 20 36005563 36005563 single base substitution C T intron_variant ESAD-UK 20 36007840 36007840 single base substitution C T intron_variant ESAD-UK 20 36007840 36007840 single base substitution C T upstream_gene_variant ESAD-UK 20 36008019 36008019 single base substitution C T intron_variant ESAD-UK 20 36008019 36008019 single base substitution C T upstream_gene_variant ESAD-UK 20 36008582 36008582 single base substitution G A intron_variant ESAD-UK 20 36008582 36008582 single base substitution G A upstream_gene_variant ESAD-UK 20 36008665 36008665 single base substitution G C intron_variant ESAD-UK 20 36008665 36008665 single base substitution G C upstream_gene_variant ESAD-UK 20 36012530 36012530 single base substitution G A downstream_gene_variant ESAD-UK 20 36012530 36012530 single base substitution G A intron_variant ESAD-UK 20 36012530 36012530 single base substitution G A upstream_gene_variant ESAD-UK 20 36014245 36014245 single base substitution G A downstream_gene_variant ESAD-UK 20 36014245 36014245 single base substitution G A intron_variant ESAD-UK 20 36017636 36017636 single base substitution G C intron_variant ESAD-UK 20 36017636 36017636 single base substitution G C upstream_gene_variant ESAD-UK 20 36021920 36021920 single base substitution G A intron_variant ESAD-UK 20 36021920 36021920 single base substitution G A upstream_gene_variant ESAD-UK 20 36022970 36022970 single base substitution G A downstream_gene_variant ESAD-UK 20 36022970 36022970 single base substitution G A intron_variant ESAD-UK 20 36022970 36022970 single base substitution G A upstream_gene_variant ESAD-UK 20 36023840 36023840 single base substitution G A downstream_gene_variant ESAD-UK 20 36023840 36023840 single base substitution G A intron_variant ESAD-UK 20 36023840 36023840 single base substitution G A upstream_gene_variant ESAD-UK 20 36024088 36024088 single base substitution C T downstream_gene_variant ESAD-UK 20 36024088 36024088 single base substitution C T intron_variant ESAD-UK 20 36024088 36024088 single base substitution C T upstream_gene_variant ESAD-UK 20 36026244 36026244 single base substitution C T downstream_gene_variant ESAD-UK 20 36026244 36026244 single base substitution C T exon_variant ESAD-UK 20 36026244 36026244 single base substitution C T synonymous_variant G282G 846C>T ESAD-UK 20 36026244 36026244 single base substitution C T synonymous_variant G288G 864C>T ESAD-UK 20 36026244 36026244 single base substitution C T upstream_gene_variant ESAD-UK 20 36027385 36027385 single base substitution C A downstream_gene_variant ESAD-UK 20 36027385 36027385 single base substitution C A intron_variant ESAD-UK 20 36027385 36027385 single base substitution C A upstream_gene_variant ESAD-UK 20 36027644 36027644 single base substitution C T downstream_gene_variant ESAD-UK 20 36027644 36027644 single base substitution C T intron_variant ESAD-UK 20 36027644 36027644 single base substitution C T upstream_gene_variant ESAD-UK 20 36028373 36028373 single base substitution C G downstream_gene_variant ESAD-UK 20 36028373 36028373 single base substitution C G intron_variant ESAD-UK 20 36028373 36028373 single base substitution C G upstream_gene_variant ESAD-UK 20 36028877 36028877 single base substitution C T downstream_gene_variant ESAD-UK 20 36028877 36028877 single base substitution C T intron_variant ESAD-UK 20 36028877 36028877 single base substitution C T upstream_gene_variant ESAD-UK 20 36029405 36029405 insertion of <=200bp - G downstream_gene_variant ESAD-UK 20 36029405 36029405 insertion of <=200bp - G intron_variant ESAD-UK 20 36029405 36029405 insertion of <=200bp - G upstream_gene_variant ESAD-UK 20 36029466 36029466 single base substitution C T downstream_gene_variant ESAD-UK 20 36029466 36029466 single base substitution C T intron_variant ESAD-UK 20 36029466 36029466 single base substitution C T upstream_gene_variant ESAD-UK 20 36031400 36031400 single base substitution C T downstream_gene_variant ESAD-UK 20 36031400 36031400 single base substitution C T exon_variant ESAD-UK 20 36031400 36031400 single base substitution C T intron_variant ESAD-UK 20 36035520 36035520 single base substitution C T downstream_gene_variant ESAD-UK 20 36037661 36037661 single base substitution C T downstream_gene_variant ESAD-UK 20 36037777 36037777 single base substitution C T downstream_gene_variant ESAD-UK 20 36038337 36038337 single base substitution C A downstream_gene_variant ESAD-UK 20 36038970 36038970 single base substitution C T downstream_gene_variant GBM-US 20 36026230 36026230 single base substitution C G downstream_gene_variant GBM-US 20 36026230 36026230 single base substitution C G exon_variant GBM-US 20 36026230 36026230 single base substitution C G missense_variant Q278E 832C>G GBM-US 20 36026230 36026230 single base substitution C G missense_variant Q284E 850C>G GBM-US 20 36026230 36026230 single base substitution C G upstream_gene_variant GBM-US 20 36030005 36030005 single base substitution G A downstream_gene_variant GBM-US 20 36030005 36030005 single base substitution G A missense_variant G347E 1040G>A GBM-US 20 36030005 36030005 single base substitution G A missense_variant G353E 1058G>A GBM-US 20 36030005 36030005 single base substitution G A splice_region_variant GBM-US 20 36030005 36030005 single base substitution G A upstream_gene_variant KIRC-US 20 36024602 36024602 single base substitution C A downstream_gene_variant KIRC-US 20 36024602 36024602 single base substitution C A exon_variant KIRC-US 20 36024602 36024602 single base substitution C A synonymous_variant A197A 591C>A KIRC-US 20 36024602 36024602 single base substitution C A synonymous_variant A203A 609C>A KIRC-US 20 36024602 36024602 single base substitution C A upstream_gene_variant KIRC-US 20 36024642 36024642 single base substitution G A downstream_gene_variant KIRC-US 20 36024642 36024642 single base substitution G A exon_variant KIRC-US 20 36024642 36024642 single base substitution G A missense_variant D211N 631G>A KIRC-US 20 36024642 36024642 single base substitution G A missense_variant D217N 649G>A KIRC-US 20 36024642 36024642 single base substitution G A upstream_gene_variant KIRC-US 20 36028584 36028584 single base substitution C T downstream_gene_variant KIRC-US 20 36028584 36028584 single base substitution C T exon_variant KIRC-US 20 36028584 36028584 single base substitution C T missense_variant A309V 926C>T KIRC-US 20 36028584 36028584 single base substitution C T missense_variant A315V 944C>T KIRC-US 20 36028584 36028584 single base substitution C T upstream_gene_variant KIRP-US 20 36026154 36026154 single base substitution G T downstream_gene_variant KIRP-US 20 36026154 36026154 single base substitution G T exon_variant KIRP-US 20 36026154 36026154 single base substitution G T missense_variant K252N 756G>T KIRP-US 20 36026154 36026154 single base substitution G T missense_variant K258N 774G>T KIRP-US 20 36026154 36026154 single base substitution G T upstream_gene_variant LICA-FR 20 35970621 35970622 deletion of <=200bp TT - upstream_gene_variant LICA-FR 20 35995499 35995499 deletion of <=200bp T - intron_variant LICA-FR 20 36001821 36001821 single base substitution C A intron_variant LIHC-US 20 36031248 36031248 single base substitution C G downstream_gene_variant LIHC-US 20 36031248 36031248 single base substitution C G exon_variant LIHC-US 20 36031248 36031248 single base substitution C G missense_variant T456S 1367C>G LIHC-US 20 36031248 36031248 single base substitution C G missense_variant T462S 1385C>G LINC-JP 20 35976698 35976698 single base substitution G A intron_variant LINC-JP 20 35981926 35981926 single base substitution C T intron_variant LINC-JP 20 35993050 35993050 single base substitution G T intron_variant LINC-JP 20 36003171 36003171 single base substitution T G intron_variant LINC-JP 20 36008062 36008062 single base substitution G C intron_variant LINC-JP 20 36008062 36008062 single base substitution G C upstream_gene_variant LINC-JP 20 36008327 36008327 single base substitution G A intron_variant LINC-JP 20 36008327 36008327 single base substitution G A upstream_gene_variant LINC-JP 20 36015066 36015066 single base substitution A G downstream_gene_variant LINC-JP 20 36015066 36015066 single base substitution A G intron_variant LINC-JP 20 36023294 36023294 single base substitution G T downstream_gene_variant LINC-JP 20 36023294 36023294 single base substitution G T intron_variant LINC-JP 20 36023294 36023294 single base substitution G T upstream_gene_variant LINC-JP 20 36028787 36028787 single base substitution C T downstream_gene_variant LINC-JP 20 36028787 36028787 single base substitution C T intron_variant LINC-JP 20 36028787 36028787 single base substitution C T upstream_gene_variant LINC-JP 20 36029936 36029936 single base substitution G A downstream_gene_variant LINC-JP 20 36029936 36029936 single base substitution G A intron_variant LINC-JP 20 36029936 36029936 single base substitution G A upstream_gene_variant LINC-JP 20 36033634 36033635 deletion of <=200bp TT - 3_prime_UTR_variant LINC-JP 20 36033634 36033635 deletion of <=200bp TT - downstream_gene_variant LINC-JP 20 36033634 36033635 deletion of <=200bp TT - exon_variant LIRI-JP 20 35969674 35969674 single base substitution G A upstream_gene_variant LIRI-JP 20 35971170 35971170 single base substitution T C upstream_gene_variant LIRI-JP 20 35973157 35973157 single base substitution G A 5_prime_UTR_variant LIRI-JP 20 35973157 35973157 single base substitution G A exon_variant LIRI-JP 20 35973157 35973157 single base substitution G A upstream_gene_variant LIRI-JP 20 35976874 35976874 single base substitution A G intron_variant LIRI-JP 20 35977513 35977513 single base substitution A G intron_variant LIRI-JP 20 35979609 35979609 single base substitution C T intron_variant LIRI-JP 20 35982604 35982604 single base substitution G T intron_variant LIRI-JP 20 35986485 35986485 single base substitution C T intron_variant LIRI-JP 20 35987628 35987628 single base substitution G C intron_variant LIRI-JP 20 35988088 35988088 single base substitution T A intron_variant LIRI-JP 20 35988116 35988116 single base substitution C T intron_variant LIRI-JP 20 35991806 35991806 single base substitution G A intron_variant LIRI-JP 20 35994862 35994862 single base substitution C G intron_variant LIRI-JP 20 35995009 35995009 single base substitution T A intron_variant LIRI-JP 20 36000636 36000636 single base substitution C A intron_variant LIRI-JP 20 36004136 36004136 single base substitution A T intron_variant LIRI-JP 20 36004513 36004513 single base substitution A C intron_variant LIRI-JP 20 36010685 36010685 single base substitution A T intron_variant LIRI-JP 20 36010685 36010685 single base substitution A T upstream_gene_variant LIRI-JP 20 36015610 36015610 single base substitution G A downstream_gene_variant LIRI-JP 20 36015610 36015610 single base substitution G A intron_variant LIRI-JP 20 36018369 36018369 single base substitution G T intron_variant LIRI-JP 20 36018369 36018369 single base substitution G T upstream_gene_variant LIRI-JP 20 36022591 36022591 single base substitution A G downstream_gene_variant LIRI-JP 20 36022591 36022591 single base substitution A G exon_variant LIRI-JP 20 36022591 36022591 single base substitution A G missense_variant K155R 464A>G LIRI-JP 20 36022591 36022591 single base substitution A G missense_variant K161R 482A>G LIRI-JP 20 36022591 36022591 single base substitution A G upstream_gene_variant LIRI-JP 20 36026376 36026376 single base substitution A G downstream_gene_variant LIRI-JP 20 36026376 36026376 single base substitution A G intron_variant LIRI-JP 20 36026376 36026376 single base substitution A G upstream_gene_variant LIRI-JP 20 36027777 36027777 deletion of <=200bp C - downstream_gene_variant LIRI-JP 20 36027777 36027777 deletion of <=200bp C - intron_variant LIRI-JP 20 36027777 36027777 deletion of <=200bp C - upstream_gene_variant LIRI-JP 20 36027829 36027829 single base substitution G A downstream_gene_variant LIRI-JP 20 36027829 36027829 single base substitution G A intron_variant LIRI-JP 20 36027829 36027829 single base substitution G A upstream_gene_variant LUSC-KR 20 35968708 35968708 single base substitution C G upstream_gene_variant LUSC-KR 20 35968833 35968833 single base substitution T C upstream_gene_variant LUSC-KR 20 35972865 35972865 single base substitution T A upstream_gene_variant LUSC-KR 20 35978642 35978642 single base substitution C T intron_variant LUSC-KR 20 35978962 35978962 single base substitution C G intron_variant LUSC-KR 20 35981202 35981202 single base substitution G T intron_variant LUSC-KR 20 35982305 35982305 single base substitution C T intron_variant LUSC-KR 20 35995773 35995773 single base substitution G T intron_variant LUSC-KR 20 35999207 35999207 single base substitution T C intron_variant LUSC-KR 20 36006627 36006627 single base substitution G T intron_variant LUSC-KR 20 36006627 36006627 single base substitution G T upstream_gene_variant LUSC-KR 20 36022204 36022204 single base substitution G C exon_variant LUSC-KR 20 36022204 36022204 single base substitution G C intron_variant LUSC-KR 20 36022204 36022204 single base substitution G C upstream_gene_variant LUSC-KR 20 36022352 36022352 single base substitution C T exon_variant LUSC-KR 20 36022352 36022352 single base substitution C T synonymous_variant I135I 405C>T LUSC-KR 20 36022352 36022352 single base substitution C T synonymous_variant I141I 423C>T LUSC-KR 20 36022352 36022352 single base substitution C T upstream_gene_variant LUSC-KR 20 36022807 36022807 single base substitution G T downstream_gene_variant LUSC-KR 20 36022807 36022807 single base substitution G T intron_variant LUSC-KR 20 36022807 36022807 single base substitution G T upstream_gene_variant LUSC-KR 20 36026303 36026303 single base substitution C T downstream_gene_variant LUSC-KR 20 36026303 36026303 single base substitution C T intron_variant LUSC-KR 20 36026303 36026303 single base substitution C T upstream_gene_variant LUSC-KR 20 36028887 36028887 single base substitution C T downstream_gene_variant LUSC-KR 20 36028887 36028887 single base substitution C T intron_variant LUSC-KR 20 36028887 36028887 single base substitution C T upstream_gene_variant LUSC-KR 20 36029595 36029595 single base substitution A G downstream_gene_variant LUSC-KR 20 36029595 36029595 single base substitution A G intron_variant LUSC-KR 20 36029595 36029595 single base substitution A G upstream_gene_variant LUSC-KR 20 36037506 36037506 single base substitution C G downstream_gene_variant LUSC-KR 20 36037995 36037995 single base substitution A C downstream_gene_variant LUSC-KR 20 36038117 36038117 single base substitution C T downstream_gene_variant MALY-DE 20 35969474 35969474 single base substitution A T upstream_gene_variant MALY-DE 20 35974183 35974183 single base substitution T C intron_variant MALY-DE 20 35974183 35974183 single base substitution T C upstream_gene_variant MALY-DE 20 35980751 35980751 single base substitution C T intron_variant MALY-DE 20 35984032 35984032 single base substitution C A intron_variant MALY-DE 20 35985809 35985812 deletion of <=200bp TCCA - intron_variant MALY-DE 20 35990230 35990237 deletion of <=200bp GTAGAGAT - intron_variant MALY-DE 20 35990542 35990542 single base substitution C T intron_variant MALY-DE 20 35991445 35991445 single base substitution G T intron_variant MALY-DE 20 35993993 35993993 deletion of <=200bp T - intron_variant MALY-DE 20 36006012 36006012 single base substitution A G intron_variant MALY-DE 20 36009000 36009000 single base substitution T G intron_variant MALY-DE 20 36009000 36009000 single base substitution T G upstream_gene_variant MALY-DE 20 36009412 36009412 single base substitution G A intron_variant MALY-DE 20 36009412 36009412 single base substitution G A upstream_gene_variant MALY-DE 20 36010504 36010504 single base substitution C A intron_variant MALY-DE 20 36010504 36010504 single base substitution C A upstream_gene_variant MALY-DE 20 36017987 36017987 single base substitution G C intron_variant MALY-DE 20 36017987 36017987 single base substitution G C upstream_gene_variant MALY-DE 20 36026845 36026845 single base substitution C T downstream_gene_variant MALY-DE 20 36026845 36026845 single base substitution C T intron_variant MALY-DE 20 36026845 36026845 single base substitution C T upstream_gene_variant MALY-DE 20 36034550 36034551 deletion of <=200bp GT - downstream_gene_variant MALY-DE 20 36036260 36036260 single base substitution G A downstream_gene_variant MELA-AU 20 35968413 35968413 single base substitution C T upstream_gene_variant MELA-AU 20 35968803 35968803 single base substitution G A upstream_gene_variant MELA-AU 20 35968976 35968976 single base substitution C T upstream_gene_variant MELA-AU 20 35969376 35969377 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 35969488 35969488 single base substitution C T upstream_gene_variant MELA-AU 20 35969506 35969506 single base substitution C T upstream_gene_variant MELA-AU 20 35969535 35969535 single base substitution C T upstream_gene_variant MELA-AU 20 35969858 35969858 single base substitution C T upstream_gene_variant MELA-AU 20 35969880 35969880 single base substitution C T upstream_gene_variant MELA-AU 20 35970028 35970028 single base substitution G A upstream_gene_variant MELA-AU 20 35970150 35970150 single base substitution C T upstream_gene_variant MELA-AU 20 35970302 35970302 single base substitution C T upstream_gene_variant MELA-AU 20 35970481 35970481 single base substitution C T upstream_gene_variant MELA-AU 20 35970517 35970517 single base substitution G A upstream_gene_variant MELA-AU 20 35971473 35971473 single base substitution C T upstream_gene_variant MELA-AU 20 35971530 35971530 single base substitution C T upstream_gene_variant MELA-AU 20 35972244 35972245 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 35972837 35972837 single base substitution G A upstream_gene_variant MELA-AU 20 35973318 35973318 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 20 35973318 35973318 single base substitution C T intron_variant MELA-AU 20 35973318 35973318 single base substitution C T upstream_gene_variant MELA-AU 20 35973516 35973516 single base substitution G A intron_variant MELA-AU 20 35973516 35973516 single base substitution G A upstream_gene_variant MELA-AU 20 35973668 35973668 single base substitution G A intron_variant MELA-AU 20 35973668 35973668 single base substitution G A upstream_gene_variant MELA-AU 20 35973872 35973872 single base substitution C T intron_variant MELA-AU 20 35973872 35973872 single base substitution C T upstream_gene_variant MELA-AU 20 35974251 35974251 single base substitution G A intron_variant MELA-AU 20 35974251 35974251 single base substitution G A upstream_gene_variant MELA-AU 20 35974281 35974281 single base substitution G A intron_variant MELA-AU 20 35974281 35974281 single base substitution G A upstream_gene_variant MELA-AU 20 35974395 35974395 single base substitution C T intron_variant MELA-AU 20 35974395 35974395 single base substitution C T upstream_gene_variant MELA-AU 20 35974536 35974536 single base substitution G A intron_variant MELA-AU 20 35974536 35974536 single base substitution G A upstream_gene_variant MELA-AU 20 35975813 35975813 single base substitution C T intron_variant MELA-AU 20 35976065 35976065 single base substitution G A intron_variant MELA-AU 20 35976283 35976283 single base substitution C T intron_variant MELA-AU 20 35976510 35976510 single base substitution C T intron_variant MELA-AU 20 35977028 35977028 single base substitution C T intron_variant MELA-AU 20 35977349 35977349 single base substitution T G intron_variant MELA-AU 20 35977580 35977580 single base substitution G A intron_variant MELA-AU 20 35978448 35978448 single base substitution C T intron_variant MELA-AU 20 35978945 35978945 single base substitution C A intron_variant MELA-AU 20 35979173 35979173 single base substitution C T intron_variant MELA-AU 20 35979473 35979473 single base substitution G A intron_variant MELA-AU 20 35979558 35979559 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 35979939 35979939 single base substitution C T intron_variant MELA-AU 20 35980392 35980392 single base substitution C T intron_variant MELA-AU 20 35980846 35980846 single base substitution G A intron_variant MELA-AU 20 35982027 35982027 single base substitution C T intron_variant MELA-AU 20 35982220 35982220 single base substitution T C intron_variant MELA-AU 20 35982222 35982222 single base substitution C T intron_variant MELA-AU 20 35982332 35982332 single base substitution C T intron_variant MELA-AU 20 35982485 35982485 single base substitution G A intron_variant MELA-AU 20 35982542 35982542 single base substitution C T intron_variant MELA-AU 20 35982945 35982945 single base substitution C T intron_variant MELA-AU 20 35983032 35983032 single base substitution C T intron_variant MELA-AU 20 35983478 35983478 single base substitution G T intron_variant MELA-AU 20 35983801 35983801 single base substitution C T intron_variant MELA-AU 20 35983936 35983936 single base substitution C T intron_variant MELA-AU 20 35984582 35984582 single base substitution C T intron_variant MELA-AU 20 35984738 35984738 single base substitution C T intron_variant MELA-AU 20 35985325 35985325 single base substitution C T intron_variant MELA-AU 20 35985453 35985454 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 35985900 35985900 single base substitution G A intron_variant MELA-AU 20 35985988 35985988 single base substitution C T intron_variant MELA-AU 20 35985994 35985994 single base substitution G A intron_variant MELA-AU 20 35987203 35987203 single base substitution C T intron_variant MELA-AU 20 35987301 35987301 single base substitution T G intron_variant MELA-AU 20 35987409 35987409 single base substitution G A intron_variant MELA-AU 20 35987636 35987636 single base substitution C T intron_variant MELA-AU 20 35987648 35987648 single base substitution C T intron_variant MELA-AU 20 35989633 35989633 single base substitution C T intron_variant MELA-AU 20 35990136 35990136 single base substitution C T intron_variant MELA-AU 20 35990438 35990438 single base substitution C T intron_variant MELA-AU 20 35991182 35991182 single base substitution C T intron_variant MELA-AU 20 35991529 35991529 single base substitution C T intron_variant MELA-AU 20 35991552 35991553 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 35991645 35991645 single base substitution G A intron_variant MELA-AU 20 35991687 35991687 single base substitution C T intron_variant MELA-AU 20 35991859 35991859 single base substitution G A intron_variant MELA-AU 20 35991889 35991889 single base substitution T C intron_variant MELA-AU 20 35992171 35992171 single base substitution G A intron_variant MELA-AU 20 35992413 35992413 single base substitution C T intron_variant MELA-AU 20 35992530 35992530 single base substitution C T intron_variant MELA-AU 20 35993027 35993027 single base substitution C T intron_variant MELA-AU 20 35993046 35993046 single base substitution C T intron_variant MELA-AU 20 35993331 35993331 single base substitution G A intron_variant MELA-AU 20 35993437 35993437 single base substitution C T intron_variant MELA-AU 20 35993851 35993851 single base substitution C T intron_variant MELA-AU 20 35994146 35994146 single base substitution C T intron_variant MELA-AU 20 35994527 35994527 single base substitution C T intron_variant MELA-AU 20 35994572 35994572 single base substitution C T intron_variant MELA-AU 20 35994760 35994760 single base substitution C T intron_variant MELA-AU 20 35994885 35994885 single base substitution C T intron_variant MELA-AU 20 35994906 35994906 single base substitution C T intron_variant MELA-AU 20 35995922 35995922 single base substitution C T intron_variant MELA-AU 20 35996491 35996491 single base substitution C T intron_variant MELA-AU 20 35997338 35997338 single base substitution G A intron_variant MELA-AU 20 35997784 35997784 single base substitution C T intron_variant MELA-AU 20 35997816 35997816 single base substitution C T intron_variant MELA-AU 20 35997817 35997817 single base substitution C T intron_variant MELA-AU 20 35997852 35997852 single base substitution C T intron_variant MELA-AU 20 35998038 35998038 single base substitution C T intron_variant MELA-AU 20 35998167 35998167 single base substitution C T intron_variant MELA-AU 20 35998549 35998549 single base substitution C T intron_variant MELA-AU 20 35998736 35998736 single base substitution G T intron_variant MELA-AU 20 35998892 35998892 single base substitution C T intron_variant MELA-AU 20 35999229 35999229 single base substitution G A intron_variant MELA-AU 20 35999702 35999702 single base substitution C T intron_variant MELA-AU 20 35999743 35999743 single base substitution C T intron_variant MELA-AU 20 36000154 36000154 single base substitution G T intron_variant MELA-AU 20 36000736 36000736 single base substitution C T intron_variant MELA-AU 20 36000923 36000923 single base substitution A G intron_variant MELA-AU 20 36001679 36001679 single base substitution A T intron_variant MELA-AU 20 36001801 36001801 single base substitution T C intron_variant MELA-AU 20 36001820 36001820 single base substitution G A intron_variant MELA-AU 20 36001830 36001830 single base substitution G A intron_variant MELA-AU 20 36001940 36001940 single base substitution C T intron_variant MELA-AU 20 36002018 36002018 single base substitution C T intron_variant MELA-AU 20 36002204 36002204 single base substitution A G intron_variant MELA-AU 20 36002520 36002520 single base substitution T C intron_variant MELA-AU 20 36002605 36002605 single base substitution C T intron_variant MELA-AU 20 36003201 36003201 single base substitution C T intron_variant MELA-AU 20 36003305 36003305 single base substitution C T intron_variant MELA-AU 20 36003838 36003838 single base substitution C T intron_variant MELA-AU 20 36004292 36004292 single base substitution A T intron_variant MELA-AU 20 36005014 36005014 single base substitution C T intron_variant MELA-AU 20 36005264 36005264 single base substitution T C intron_variant MELA-AU 20 36005420 36005421 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 36005559 36005559 single base substitution C T intron_variant MELA-AU 20 36006118 36006118 single base substitution T A intron_variant MELA-AU 20 36006118 36006118 single base substitution T A upstream_gene_variant MELA-AU 20 36006473 36006473 single base substitution T A intron_variant MELA-AU 20 36006473 36006473 single base substitution T A upstream_gene_variant MELA-AU 20 36006596 36006596 single base substitution C T intron_variant MELA-AU 20 36006596 36006596 single base substitution C T upstream_gene_variant MELA-AU 20 36006688 36006688 single base substitution T A intron_variant MELA-AU 20 36006688 36006688 single base substitution T A upstream_gene_variant MELA-AU 20 36006877 36006877 single base substitution C T intron_variant MELA-AU 20 36006877 36006877 single base substitution C T upstream_gene_variant MELA-AU 20 36006889 36006889 single base substitution C T intron_variant MELA-AU 20 36006889 36006889 single base substitution C T upstream_gene_variant MELA-AU 20 36007629 36007629 single base substitution C T intron_variant MELA-AU 20 36007629 36007629 single base substitution C T upstream_gene_variant MELA-AU 20 36008009 36008009 single base substitution C T intron_variant MELA-AU 20 36008009 36008009 single base substitution C T upstream_gene_variant MELA-AU 20 36008238 36008238 single base substitution G T intron_variant MELA-AU 20 36008238 36008238 single base substitution G T upstream_gene_variant MELA-AU 20 36008475 36008475 single base substitution C T intron_variant MELA-AU 20 36008475 36008475 single base substitution C T upstream_gene_variant MELA-AU 20 36008606 36008606 single base substitution G A intron_variant MELA-AU 20 36008606 36008606 single base substitution G A upstream_gene_variant MELA-AU 20 36009005 36009005 single base substitution C T intron_variant MELA-AU 20 36009005 36009005 single base substitution C T upstream_gene_variant MELA-AU 20 36009256 36009256 single base substitution A G intron_variant MELA-AU 20 36009256 36009256 single base substitution A G upstream_gene_variant MELA-AU 20 36009372 36009372 single base substitution C T intron_variant MELA-AU 20 36009372 36009372 single base substitution C T upstream_gene_variant MELA-AU 20 36009669 36009669 single base substitution C T intron_variant MELA-AU 20 36009669 36009669 single base substitution C T upstream_gene_variant MELA-AU 20 36010003 36010003 single base substitution C T intron_variant MELA-AU 20 36010003 36010003 single base substitution C T upstream_gene_variant MELA-AU 20 36010008 36010008 single base substitution C G intron_variant MELA-AU 20 36010008 36010008 single base substitution C G upstream_gene_variant MELA-AU 20 36010249 36010249 single base substitution C T intron_variant MELA-AU 20 36010249 36010249 single base substitution C T upstream_gene_variant MELA-AU 20 36010255 36010256 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 36010255 36010256 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 36010519 36010519 single base substitution C T intron_variant MELA-AU 20 36010519 36010519 single base substitution C T upstream_gene_variant MELA-AU 20 36011626 36011626 single base substitution C T downstream_gene_variant MELA-AU 20 36011626 36011626 single base substitution C T intron_variant MELA-AU 20 36011626 36011626 single base substitution C T upstream_gene_variant MELA-AU 20 36011824 36011824 single base substitution A G downstream_gene_variant MELA-AU 20 36011824 36011824 single base substitution A G intron_variant MELA-AU 20 36011824 36011824 single base substitution A G upstream_gene_variant MELA-AU 20 36011972 36011972 single base substitution G A downstream_gene_variant MELA-AU 20 36011972 36011972 single base substitution G A intron_variant MELA-AU 20 36011972 36011972 single base substitution G A upstream_gene_variant MELA-AU 20 36011998 36011998 single base substitution C T downstream_gene_variant MELA-AU 20 36011998 36011998 single base substitution C T intron_variant MELA-AU 20 36011998 36011998 single base substitution C T upstream_gene_variant MELA-AU 20 36013260 36013260 single base substitution C T downstream_gene_variant MELA-AU 20 36013260 36013260 single base substitution C T intron_variant MELA-AU 20 36014097 36014097 single base substitution C T downstream_gene_variant MELA-AU 20 36014097 36014097 single base substitution C T intron_variant MELA-AU 20 36014593 36014593 single base substitution C T downstream_gene_variant MELA-AU 20 36014593 36014593 single base substitution C T intron_variant MELA-AU 20 36014602 36014602 single base substitution C T downstream_gene_variant MELA-AU 20 36014602 36014602 single base substitution C T intron_variant MELA-AU 20 36014699 36014699 single base substitution C T downstream_gene_variant MELA-AU 20 36014699 36014699 single base substitution C T intron_variant MELA-AU 20 36015021 36015021 single base substitution C T downstream_gene_variant MELA-AU 20 36015021 36015021 single base substitution C T intron_variant MELA-AU 20 36015317 36015317 single base substitution C T downstream_gene_variant MELA-AU 20 36015317 36015317 single base substitution C T intron_variant MELA-AU 20 36015355 36015355 single base substitution C T downstream_gene_variant MELA-AU 20 36015355 36015355 single base substitution C T intron_variant MELA-AU 20 36017720 36017720 single base substitution C T intron_variant MELA-AU 20 36017720 36017720 single base substitution C T upstream_gene_variant MELA-AU 20 36018158 36018158 single base substitution C T intron_variant MELA-AU 20 36018158 36018158 single base substitution C T upstream_gene_variant MELA-AU 20 36018349 36018349 single base substitution C T intron_variant MELA-AU 20 36018349 36018349 single base substitution C T upstream_gene_variant MELA-AU 20 36018842 36018842 single base substitution C T intron_variant MELA-AU 20 36018842 36018842 single base substitution C T upstream_gene_variant MELA-AU 20 36019005 36019005 single base substitution C T intron_variant MELA-AU 20 36019005 36019005 single base substitution C T upstream_gene_variant MELA-AU 20 36019127 36019127 single base substitution C T intron_variant MELA-AU 20 36019127 36019127 single base substitution C T upstream_gene_variant MELA-AU 20 36019264 36019265 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 20 36019264 36019265 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 20 36019622 36019622 single base substitution C T intron_variant MELA-AU 20 36019622 36019622 single base substitution C T upstream_gene_variant MELA-AU 20 36019627 36019627 single base substitution C T intron_variant MELA-AU 20 36019627 36019627 single base substitution C T upstream_gene_variant MELA-AU 20 36019835 36019835 single base substitution C A intron_variant MELA-AU 20 36019835 36019835 single base substitution C A upstream_gene_variant MELA-AU 20 36020171 36020171 single base substitution C T intron_variant MELA-AU 20 36020171 36020171 single base substitution C T upstream_gene_variant MELA-AU 20 36020467 36020468 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 20 36020467 36020468 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 36020516 36020516 single base substitution C T intron_variant MELA-AU 20 36020516 36020516 single base substitution C T upstream_gene_variant MELA-AU 20 36020713 36020713 single base substitution C T intron_variant MELA-AU 20 36020713 36020713 single base substitution C T upstream_gene_variant MELA-AU 20 36020721 36020721 single base substitution C T intron_variant MELA-AU 20 36020721 36020721 single base substitution C T upstream_gene_variant MELA-AU 20 36020747 36020747 single base substitution C T intron_variant MELA-AU 20 36020747 36020747 single base substitution C T upstream_gene_variant MELA-AU 20 36020748 36020748 single base substitution C T intron_variant MELA-AU 20 36020748 36020748 single base substitution C T upstream_gene_variant MELA-AU 20 36021237 36021237 single base substitution C T intron_variant MELA-AU 20 36021237 36021237 single base substitution C T upstream_gene_variant MELA-AU 20 36021237 36021238 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 36021237 36021238 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 36021387 36021387 single base substitution C T intron_variant MELA-AU 20 36021387 36021387 single base substitution C T upstream_gene_variant MELA-AU 20 36021517 36021517 single base substitution C T intron_variant MELA-AU 20 36021517 36021517 single base substitution C T upstream_gene_variant MELA-AU 20 36021591 36021591 single base substitution A G intron_variant MELA-AU 20 36021591 36021591 single base substitution A G upstream_gene_variant MELA-AU 20 36021629 36021629 single base substitution C T intron_variant MELA-AU 20 36021629 36021629 single base substitution C T upstream_gene_variant MELA-AU 20 36022108 36022108 single base substitution C T intron_variant MELA-AU 20 36022108 36022108 single base substitution C T upstream_gene_variant MELA-AU 20 36022288 36022288 single base substitution C T exon_variant MELA-AU 20 36022288 36022288 single base substitution C T intron_variant MELA-AU 20 36022288 36022288 single base substitution C T upstream_gene_variant MELA-AU 20 36022655 36022655 single base substitution C T downstream_gene_variant MELA-AU 20 36022655 36022655 single base substitution C T exon_variant MELA-AU 20 36022655 36022655 single base substitution C T synonymous_variant L176L 528C>T MELA-AU 20 36022655 36022655 single base substitution C T synonymous_variant L182L 546C>T MELA-AU 20 36022655 36022655 single base substitution C T upstream_gene_variant MELA-AU 20 36022789 36022789 single base substitution C T downstream_gene_variant MELA-AU 20 36022789 36022789 single base substitution C T intron_variant MELA-AU 20 36022789 36022789 single base substitution C T upstream_gene_variant MELA-AU 20 36022792 36022792 single base substitution C T downstream_gene_variant MELA-AU 20 36022792 36022792 single base substitution C T intron_variant MELA-AU 20 36022792 36022792 single base substitution C T upstream_gene_variant MELA-AU 20 36023260 36023260 single base substitution G C downstream_gene_variant MELA-AU 20 36023260 36023260 single base substitution G C intron_variant MELA-AU 20 36023260 36023260 single base substitution G C upstream_gene_variant MELA-AU 20 36023759 36023759 single base substitution C T downstream_gene_variant MELA-AU 20 36023759 36023759 single base substitution C T intron_variant MELA-AU 20 36023759 36023759 single base substitution C T upstream_gene_variant MELA-AU 20 36024222 36024222 single base substitution C T downstream_gene_variant MELA-AU 20 36024222 36024222 single base substitution C T intron_variant MELA-AU 20 36024222 36024222 single base substitution C T upstream_gene_variant MELA-AU 20 36024388 36024389 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 36024388 36024389 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 20 36024388 36024389 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 20 36024470 36024470 single base substitution C T downstream_gene_variant MELA-AU 20 36024470 36024470 single base substitution C T intron_variant MELA-AU 20 36024470 36024470 single base substitution C T upstream_gene_variant MELA-AU 20 36024471 36024471 single base substitution C T downstream_gene_variant MELA-AU 20 36024471 36024471 single base substitution C T intron_variant MELA-AU 20 36024471 36024471 single base substitution C T upstream_gene_variant MELA-AU 20 36024861 36024861 single base substitution C T downstream_gene_variant MELA-AU 20 36024861 36024861 single base substitution C T exon_variant MELA-AU 20 36024861 36024861 single base substitution C T intron_variant MELA-AU 20 36024861 36024861 single base substitution C T upstream_gene_variant MELA-AU 20 36024939 36024939 single base substitution C T downstream_gene_variant MELA-AU 20 36024939 36024939 single base substitution C T exon_variant MELA-AU 20 36024939 36024939 single base substitution C T intron_variant MELA-AU 20 36024939 36024939 single base substitution C T upstream_gene_variant MELA-AU 20 36025384 36025384 single base substitution C T downstream_gene_variant MELA-AU 20 36025384 36025384 single base substitution C T intron_variant MELA-AU 20 36025384 36025384 single base substitution C T upstream_gene_variant MELA-AU 20 36025487 36025487 single base substitution C T downstream_gene_variant MELA-AU 20 36025487 36025487 single base substitution C T intron_variant MELA-AU 20 36025487 36025487 single base substitution C T upstream_gene_variant MELA-AU 20 36025492 36025492 single base substitution C T downstream_gene_variant MELA-AU 20 36025492 36025492 single base substitution C T intron_variant MELA-AU 20 36025492 36025492 single base substitution C T upstream_gene_variant MELA-AU 20 36025707 36025707 single base substitution G A downstream_gene_variant MELA-AU 20 36025707 36025707 single base substitution G A intron_variant MELA-AU 20 36025707 36025707 single base substitution G A upstream_gene_variant MELA-AU 20 36025745 36025745 single base substitution C T downstream_gene_variant MELA-AU 20 36025745 36025745 single base substitution C T intron_variant MELA-AU 20 36025745 36025745 single base substitution C T upstream_gene_variant MELA-AU 20 36026232 36026232 single base substitution G A downstream_gene_variant MELA-AU 20 36026232 36026232 single base substitution G A exon_variant MELA-AU 20 36026232 36026232 single base substitution G A synonymous_variant Q278Q 834G>A MELA-AU 20 36026232 36026232 single base substitution G A synonymous_variant Q284Q 852G>A MELA-AU 20 36026232 36026232 single base substitution G A upstream_gene_variant MELA-AU 20 36026276 36026276 single base substitution C T downstream_gene_variant MELA-AU 20 36026276 36026276 single base substitution C T intron_variant MELA-AU 20 36026276 36026276 single base substitution C T upstream_gene_variant MELA-AU 20 36026321 36026321 single base substitution C T downstream_gene_variant MELA-AU 20 36026321 36026321 single base substitution C T intron_variant MELA-AU 20 36026321 36026321 single base substitution C T upstream_gene_variant MELA-AU 20 36026547 36026547 single base substitution C G downstream_gene_variant MELA-AU 20 36026547 36026547 single base substitution C G intron_variant MELA-AU 20 36026547 36026547 single base substitution C G upstream_gene_variant MELA-AU 20 36026754 36026755 multiple base substitution (>=2bp and <=200bp) CC AA downstream_gene_variant MELA-AU 20 36026754 36026755 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 20 36026754 36026755 multiple base substitution (>=2bp and <=200bp) CC AA upstream_gene_variant MELA-AU 20 36026913 36026913 single base substitution C T downstream_gene_variant MELA-AU 20 36026913 36026913 single base substitution C T intron_variant MELA-AU 20 36026913 36026913 single base substitution C T upstream_gene_variant MELA-AU 20 36027333 36027333 single base substitution G A downstream_gene_variant MELA-AU 20 36027333 36027333 single base substitution G A intron_variant MELA-AU 20 36027333 36027333 single base substitution G A upstream_gene_variant MELA-AU 20 36027777 36027777 single base substitution C T downstream_gene_variant MELA-AU 20 36027777 36027777 single base substitution C T intron_variant MELA-AU 20 36027777 36027777 single base substitution C T upstream_gene_variant MELA-AU 20 36027778 36027778 single base substitution C T downstream_gene_variant MELA-AU 20 36027778 36027778 single base substitution C T intron_variant MELA-AU 20 36027778 36027778 single base substitution C T upstream_gene_variant MELA-AU 20 36028306 36028306 single base substitution C T downstream_gene_variant MELA-AU 20 36028306 36028306 single base substitution C T intron_variant MELA-AU 20 36028306 36028306 single base substitution C T upstream_gene_variant MELA-AU 20 36029037 36029037 single base substitution C T downstream_gene_variant MELA-AU 20 36029037 36029037 single base substitution C T intron_variant MELA-AU 20 36029037 36029037 single base substitution C T upstream_gene_variant MELA-AU 20 36029197 36029197 single base substitution T G downstream_gene_variant MELA-AU 20 36029197 36029197 single base substitution T G intron_variant MELA-AU 20 36029197 36029197 single base substitution T G upstream_gene_variant MELA-AU 20 36029577 36029577 single base substitution C T downstream_gene_variant MELA-AU 20 36029577 36029577 single base substitution C T intron_variant MELA-AU 20 36029577 36029577 single base substitution C T upstream_gene_variant MELA-AU 20 36029766 36029766 single base substitution C T downstream_gene_variant MELA-AU 20 36029766 36029766 single base substitution C T intron_variant MELA-AU 20 36029766 36029766 single base substitution C T upstream_gene_variant MELA-AU 20 36029893 36029893 single base substitution C T downstream_gene_variant MELA-AU 20 36029893 36029893 single base substitution C T intron_variant MELA-AU 20 36029893 36029893 single base substitution C T upstream_gene_variant MELA-AU 20 36030006 36030006 single base substitution G A downstream_gene_variant MELA-AU 20 36030006 36030006 single base substitution G A splice_region_variant MELA-AU 20 36030006 36030006 single base substitution G A upstream_gene_variant MELA-AU 20 36030171 36030171 single base substitution C T downstream_gene_variant MELA-AU 20 36030171 36030171 single base substitution C T exon_variant MELA-AU 20 36030171 36030171 single base substitution C T intron_variant MELA-AU 20 36030171 36030171 single base substitution C T upstream_gene_variant MELA-AU 20 36030266 36030266 single base substitution G A downstream_gene_variant MELA-AU 20 36030266 36030266 single base substitution G A exon_variant MELA-AU 20 36030266 36030266 single base substitution G A intron_variant MELA-AU 20 36030266 36030266 single base substitution G A upstream_gene_variant MELA-AU 20 36030563 36030563 single base substitution C G downstream_gene_variant MELA-AU 20 36030563 36030563 single base substitution C G exon_variant MELA-AU 20 36030563 36030563 single base substitution C G intron_variant MELA-AU 20 36030563 36030563 single base substitution C G upstream_gene_variant MELA-AU 20 36030565 36030565 single base substitution T A downstream_gene_variant MELA-AU 20 36030565 36030565 single base substitution T A exon_variant MELA-AU 20 36030565 36030565 single base substitution T A intron_variant MELA-AU 20 36030565 36030565 single base substitution T A upstream_gene_variant MELA-AU 20 36030650 36030650 single base substitution C T downstream_gene_variant MELA-AU 20 36030650 36030650 single base substitution C T exon_variant MELA-AU 20 36030650 36030650 single base substitution C T intron_variant MELA-AU 20 36030650 36030650 single base substitution C T upstream_gene_variant MELA-AU 20 36030763 36030763 single base substitution C T downstream_gene_variant MELA-AU 20 36030763 36030763 single base substitution C T exon_variant MELA-AU 20 36030763 36030763 single base substitution C T intron_variant MELA-AU 20 36030767 36030767 single base substitution C T downstream_gene_variant MELA-AU 20 36030767 36030767 single base substitution C T exon_variant MELA-AU 20 36030767 36030767 single base substitution C T intron_variant MELA-AU 20 36031065 36031065 single base substitution C T downstream_gene_variant MELA-AU 20 36031065 36031065 single base substitution C T intron_variant MELA-AU 20 36031517 36031517 single base substitution C T downstream_gene_variant MELA-AU 20 36031517 36031517 single base substitution C T intron_variant MELA-AU 20 36032040 36032040 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36032040 36032040 single base substitution C T downstream_gene_variant MELA-AU 20 36032040 36032040 single base substitution C T exon_variant MELA-AU 20 36032240 36032240 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36032240 36032240 single base substitution C T downstream_gene_variant MELA-AU 20 36032240 36032240 single base substitution C T exon_variant MELA-AU 20 36032381 36032381 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36032381 36032381 single base substitution C T downstream_gene_variant MELA-AU 20 36032381 36032381 single base substitution C T exon_variant MELA-AU 20 36032438 36032438 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36032438 36032438 single base substitution C T downstream_gene_variant MELA-AU 20 36032438 36032438 single base substitution C T exon_variant MELA-AU 20 36032750 36032750 single base substitution G A 3_prime_UTR_variant MELA-AU 20 36032750 36032750 single base substitution G A downstream_gene_variant MELA-AU 20 36032750 36032750 single base substitution G A exon_variant MELA-AU 20 36032893 36032893 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36032893 36032893 single base substitution C T downstream_gene_variant MELA-AU 20 36032893 36032893 single base substitution C T exon_variant MELA-AU 20 36033040 36033040 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36033040 36033040 single base substitution C T downstream_gene_variant MELA-AU 20 36033040 36033040 single base substitution C T exon_variant MELA-AU 20 36033210 36033211 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 20 36033210 36033211 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 36033210 36033211 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 20 36033902 36033902 single base substitution G A 3_prime_UTR_variant MELA-AU 20 36033902 36033902 single base substitution G A downstream_gene_variant MELA-AU 20 36034256 36034256 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36034256 36034256 single base substitution C T downstream_gene_variant MELA-AU 20 36034290 36034290 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36034290 36034290 single base substitution C T downstream_gene_variant MELA-AU 20 36034291 36034291 single base substitution C T 3_prime_UTR_variant MELA-AU 20 36034291 36034291 single base substitution C T downstream_gene_variant MELA-AU 20 36035768 36035769 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 36036522 36036522 single base substitution C T downstream_gene_variant MELA-AU 20 36037200 36037200 single base substitution C A downstream_gene_variant MELA-AU 20 36037626 36037626 single base substitution G A downstream_gene_variant MELA-AU 20 36038104 36038104 single base substitution G A downstream_gene_variant MELA-AU 20 36038953 36038953 single base substitution C T downstream_gene_variant MELA-AU 20 36039252 36039252 single base substitution T A downstream_gene_variant MELA-AU 20 36039287 36039287 single base substitution C T downstream_gene_variant ORCA-IN 20 35992288 35992288 single base substitution C T intron_variant ORCA-IN 20 36010782 36010782 single base substitution G T intron_variant ORCA-IN 20 36010782 36010782 single base substitution G T upstream_gene_variant ORCA-IN 20 36026183 36026183 single base substitution C A downstream_gene_variant ORCA-IN 20 36026183 36026183 single base substitution C A exon_variant ORCA-IN 20 36026183 36026183 single base substitution C A missense_variant A262D 785C>A ORCA-IN 20 36026183 36026183 single base substitution C A missense_variant A268D 803C>A ORCA-IN 20 36026183 36026183 single base substitution C A upstream_gene_variant OV-AU 20 35974219 35974219 single base substitution T G intron_variant OV-AU 20 35974219 35974219 single base substitution T G upstream_gene_variant OV-AU 20 35978015 35978015 single base substitution T G intron_variant OV-AU 20 35978992 35978992 single base substitution A C intron_variant OV-AU 20 35989747 35989747 single base substitution C A intron_variant OV-AU 20 35994412 35994412 single base substitution A G intron_variant OV-AU 20 36007492 36007492 single base substitution A T intron_variant OV-AU 20 36007492 36007492 single base substitution A T upstream_gene_variant OV-AU 20 36011922 36011922 single base substitution C T downstream_gene_variant OV-AU 20 36011922 36011922 single base substitution C T intron_variant OV-AU 20 36011922 36011922 single base substitution C T upstream_gene_variant OV-AU 20 36014170 36014170 single base substitution C T downstream_gene_variant OV-AU 20 36014170 36014170 single base substitution C T intron_variant OV-AU 20 36017977 36017977 single base substitution C T intron_variant OV-AU 20 36017977 36017977 single base substitution C T upstream_gene_variant OV-AU 20 36018193 36018193 single base substitution G A intron_variant OV-AU 20 36018193 36018193 single base substitution G A upstream_gene_variant OV-AU 20 36024065 36024065 single base substitution T G downstream_gene_variant OV-AU 20 36024065 36024065 single base substitution T G intron_variant OV-AU 20 36024065 36024065 single base substitution T G upstream_gene_variant OV-AU 20 36024239 36024239 single base substitution C T downstream_gene_variant OV-AU 20 36024239 36024239 single base substitution C T intron_variant OV-AU 20 36024239 36024239 single base substitution C T upstream_gene_variant OV-AU 20 36034768 36034768 single base substitution G T downstream_gene_variant PACA-AU 20 35969889 35969889 single base substitution C A upstream_gene_variant PACA-AU 20 35974186 35974186 single base substitution C T intron_variant PACA-AU 20 35974186 35974186 single base substitution C T upstream_gene_variant PACA-AU 20 35980958 35980958 single base substitution T C intron_variant PACA-AU 20 35994135 35994135 single base substitution A G intron_variant PACA-AU 20 36002235 36002235 single base substitution A T intron_variant PACA-AU 20 36006075 36006075 single base substitution G A intron_variant PACA-AU 20 36014066 36014066 single base substitution T C downstream_gene_variant PACA-AU 20 36014066 36014066 single base substitution T C intron_variant PACA-AU 20 36022096 36022096 single base substitution A C intron_variant PACA-AU 20 36022096 36022096 single base substitution A C upstream_gene_variant PACA-AU 20 36024724 36024724 single base substitution C T downstream_gene_variant PACA-AU 20 36024724 36024724 single base substitution C T intron_variant PACA-AU 20 36024724 36024724 single base substitution C T upstream_gene_variant PACA-AU 20 36025781 36025781 single base substitution T G downstream_gene_variant PACA-AU 20 36025781 36025781 single base substitution T G intron_variant PACA-AU 20 36025781 36025781 single base substitution T G upstream_gene_variant PACA-AU 20 36026271 36026271 single base substitution C T downstream_gene_variant PACA-AU 20 36026271 36026271 single base substitution C T intron_variant PACA-AU 20 36026271 36026271 single base substitution C T upstream_gene_variant PACA-AU 20 36027523 36027523 single base substitution C T downstream_gene_variant PACA-AU 20 36027523 36027523 single base substitution C T intron_variant PACA-AU 20 36027523 36027523 single base substitution C T upstream_gene_variant PACA-AU 20 36031750 36031750 single base substitution G A downstream_gene_variant PACA-AU 20 36031750 36031750 single base substitution G A exon_variant PACA-AU 20 36031750 36031750 single base substitution G A missense_variant E527K 1579G>A PACA-AU 20 36031750 36031750 single base substitution G A missense_variant E533K 1597G>A PACA-AU 20 36032361 36032361 single base substitution G A 3_prime_UTR_variant PACA-AU 20 36032361 36032361 single base substitution G A downstream_gene_variant PACA-AU 20 36032361 36032361 single base substitution G A exon_variant PACA-CA 20 35968579 35968579 single base substitution C T upstream_gene_variant PACA-CA 20 35969589 35969589 single base substitution A G upstream_gene_variant PACA-CA 20 35974488 35974488 single base substitution T G intron_variant PACA-CA 20 35974488 35974488 single base substitution T G upstream_gene_variant PACA-CA 20 35976815 35976815 single base substitution C G intron_variant PACA-CA 20 35978570 35978570 single base substitution G A intron_variant PACA-CA 20 35980296 35980296 single base substitution C A intron_variant PACA-CA 20 35981085 35981085 single base substitution A G intron_variant PACA-CA 20 35983109 35983109 single base substitution G T intron_variant PACA-CA 20 35983269 35983269 single base substitution G A intron_variant PACA-CA 20 35983831 35983831 single base substitution G T intron_variant PACA-CA 20 35990519 35990519 single base substitution G A intron_variant PACA-CA 20 35992638 35992638 single base substitution G A intron_variant PACA-CA 20 35992797 35992797 single base substitution C T intron_variant PACA-CA 20 35994145 35994145 single base substitution C A intron_variant PACA-CA 20 35996222 35996222 single base substitution A T intron_variant PACA-CA 20 35997392 35997392 single base substitution A T intron_variant PACA-CA 20 36000587 36000587 single base substitution G T intron_variant PACA-CA 20 36004445 36004445 single base substitution C T intron_variant PACA-CA 20 36005054 36005054 single base substitution G T intron_variant PACA-CA 20 36005055 36005055 single base substitution C T intron_variant PACA-CA 20 36005349 36005349 single base substitution G T intron_variant PACA-CA 20 36005946 36005946 single base substitution T A intron_variant PACA-CA 20 36011907 36011907 single base substitution C A downstream_gene_variant PACA-CA 20 36011907 36011907 single base substitution C A intron_variant PACA-CA 20 36011907 36011907 single base substitution C A upstream_gene_variant PACA-CA 20 36012364 36012364 single base substitution C G downstream_gene_variant PACA-CA 20 36012364 36012364 single base substitution C G intron_variant PACA-CA 20 36012364 36012364 single base substitution C G upstream_gene_variant PACA-CA 20 36015957 36015957 single base substitution G A downstream_gene_variant PACA-CA 20 36015957 36015957 single base substitution G A intron_variant PACA-CA 20 36023821 36023821 single base substitution T G downstream_gene_variant PACA-CA 20 36023821 36023821 single base substitution T G intron_variant PACA-CA 20 36023821 36023821 single base substitution T G upstream_gene_variant PACA-CA 20 36026305 36026305 single base substitution G A downstream_gene_variant PACA-CA 20 36026305 36026305 single base substitution G A intron_variant PACA-CA 20 36026305 36026305 single base substitution G A upstream_gene_variant PACA-CA 20 36028482 36028482 single base substitution G T downstream_gene_variant PACA-CA 20 36028482 36028482 single base substitution G T intron_variant PACA-CA 20 36028482 36028482 single base substitution G T upstream_gene_variant PACA-CA 20 36028483 36028483 single base substitution G T downstream_gene_variant PACA-CA 20 36028483 36028483 single base substitution G T intron_variant PACA-CA 20 36028483 36028483 single base substitution G T upstream_gene_variant PACA-CA 20 36031750 36031750 single base substitution G A downstream_gene_variant PACA-CA 20 36031750 36031750 single base substitution G A exon_variant PACA-CA 20 36031750 36031750 single base substitution G A missense_variant E527K 1579G>A PACA-CA 20 36031750 36031750 single base substitution G A missense_variant E533K 1597G>A PACA-CA 20 36031908 36031908 single base substitution G A 3_prime_UTR_variant PACA-CA 20 36031908 36031908 single base substitution G A downstream_gene_variant PACA-CA 20 36031908 36031908 single base substitution G A exon_variant PACA-CA 20 36036964 36036964 single base substitution A G downstream_gene_variant PACA-CA 20 36037145 36037146 deletion of <=200bp AG - downstream_gene_variant PAEN-AU 20 36033564 36033564 single base substitution A C 3_prime_UTR_variant PAEN-AU 20 36033564 36033564 single base substitution A C downstream_gene_variant PAEN-AU 20 36033564 36033564 single base substitution A C exon_variant PAEN-IT 20 35972175 35972175 single base substitution T C upstream_gene_variant PAEN-IT 20 35986084 35986084 single base substitution G C intron_variant PAEN-IT 20 36028112 36028112 single base substitution C A downstream_gene_variant PAEN-IT 20 36028112 36028112 single base substitution C A intron_variant PAEN-IT 20 36028112 36028112 single base substitution C A upstream_gene_variant PBCA-DE 20 35975444 35975444 single base substitution T G intron_variant PBCA-DE 20 35990230 35990237 deletion of <=200bp GTAGAGAT - intron_variant PBCA-DE 20 35994587 35994587 single base substitution G A intron_variant PBCA-DE 20 36001164 36001164 single base substitution G T intron_variant PBCA-DE 20 36001478 36001478 single base substitution C T intron_variant PBCA-DE 20 36001506 36001506 single base substitution C G intron_variant PBCA-DE 20 36001809 36001809 single base substitution C T intron_variant PBCA-DE 20 36012812 36012812 single base substitution T G downstream_gene_variant PBCA-DE 20 36012812 36012812 single base substitution T G intron_variant PBCA-DE 20 36012812 36012812 single base substitution T G splice_region_variant PBCA-DE 20 36013573 36013573 insertion of <=200bp - AGACACACACAAGACAC downstream_gene_variant PBCA-DE 20 36013573 36013573 insertion of <=200bp - AGACACACACAAGACAC intron_variant PBCA-DE 20 36015565 36015565 single base substitution A C downstream_gene_variant PBCA-DE 20 36015565 36015565 single base substitution A C intron_variant PBCA-DE 20 36019028 36019028 single base substitution G A intron_variant PBCA-DE 20 36019028 36019028 single base substitution G A upstream_gene_variant PBCA-DE 20 36021775 36021775 single base substitution C T intron_variant PBCA-DE 20 36021775 36021775 single base substitution C T upstream_gene_variant PBCA-DE 20 36034550 36034551 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 20 36036981 36036982 deletion of <=200bp CA - downstream_gene_variant PRAD-CA 20 36005666 36005666 single base substitution C G intron_variant PRAD-CA 20 36011069 36011069 single base substitution C T 5_prime_UTR_variant PRAD-CA 20 36011069 36011069 single base substitution C T exon_variant PRAD-CA 20 36011069 36011069 single base substitution C T upstream_gene_variant PRAD-UK 20 35977711 35977711 single base substitution G C intron_variant PRAD-UK 20 35981103 35981103 single base substitution G A intron_variant PRAD-UK 20 35993918 35993918 single base substitution C T intron_variant PRAD-UK 20 35998688 35998688 single base substitution C T intron_variant PRAD-UK 20 36001158 36001158 single base substitution C G intron_variant PRAD-UK 20 36005132 36005132 single base substitution C T intron_variant RECA-EU 20 35985162 35985162 single base substitution C A intron_variant RECA-EU 20 35985886 35985886 single base substitution G T intron_variant RECA-EU 20 35992997 35992997 single base substitution C G intron_variant RECA-EU 20 36010187 36010187 single base substitution C T intron_variant RECA-EU 20 36010187 36010187 single base substitution C T upstream_gene_variant RECA-EU 20 36026489 36026489 single base substitution G A downstream_gene_variant RECA-EU 20 36026489 36026489 single base substitution G A intron_variant RECA-EU 20 36026489 36026489 single base substitution G A upstream_gene_variant RECA-EU 20 36030092 36030092 single base substitution C A downstream_gene_variant RECA-EU 20 36030092 36030092 single base substitution C A exon_variant RECA-EU 20 36030092 36030092 single base substitution C A intron_variant RECA-EU 20 36030092 36030092 single base substitution C A upstream_gene_variant RECA-EU 20 36032464 36032464 single base substitution G T 3_prime_UTR_variant RECA-EU 20 36032464 36032464 single base substitution G T downstream_gene_variant RECA-EU 20 36032464 36032464 single base substitution G T exon_variant SKCA-BR 20 35968792 35968792 single base substitution A T upstream_gene_variant SKCA-BR 20 35968857 35968857 single base substitution C T upstream_gene_variant SKCA-BR 20 35969127 35969127 single base substitution G A upstream_gene_variant SKCA-BR 20 35970275 35970275 single base substitution T C upstream_gene_variant SKCA-BR 20 35977388 35977388 single base substitution G T intron_variant SKCA-BR 20 35983642 35983642 single base substitution A C intron_variant SKCA-BR 20 35984322 35984322 single base substitution C T intron_variant SKCA-BR 20 35986502 35986502 single base substitution C T intron_variant SKCA-BR 20 35987010 35987010 single base substitution C T intron_variant SKCA-BR 20 35987011 35987011 single base substitution C T intron_variant SKCA-BR 20 35987900 35987900 single base substitution T C intron_variant SKCA-BR 20 35990382 35990382 single base substitution C G intron_variant SKCA-BR 20 35992044 35992044 single base substitution A G intron_variant SKCA-BR 20 35992091 35992091 single base substitution A C intron_variant SKCA-BR 20 35993736 35993736 single base substitution C T intron_variant SKCA-BR 20 35995818 35995818 single base substitution T A intron_variant SKCA-BR 20 35999388 35999393 deletion of <=200bp TTCTTC - intron_variant SKCA-BR 20 35999393 35999393 single base substitution C T intron_variant SKCA-BR 20 35999630 35999630 single base substitution C T intron_variant SKCA-BR 20 36000604 36000604 single base substitution A G intron_variant SKCA-BR 20 36001397 36001397 single base substitution C T intron_variant SKCA-BR 20 36001560 36001560 insertion of <=200bp - TATACAC intron_variant SKCA-BR 20 36001831 36001859 deletion of <=200bp TGTATATACGCATATATACGCATATATGC - intron_variant SKCA-BR 20 36006933 36006933 single base substitution A C intron_variant SKCA-BR 20 36006933 36006933 single base substitution A C upstream_gene_variant SKCA-BR 20 36007421 36007421 single base substitution T G intron_variant SKCA-BR 20 36007421 36007421 single base substitution T G upstream_gene_variant SKCA-BR 20 36010089 36010089 single base substitution C T intron_variant SKCA-BR 20 36010089 36010089 single base substitution C T upstream_gene_variant SKCA-BR 20 36012301 36012301 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 20 36012301 36012301 insertion of <=200bp - AT intron_variant SKCA-BR 20 36012301 36012301 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 20 36012651 36012651 single base substitution T C downstream_gene_variant SKCA-BR 20 36012651 36012651 single base substitution T C missense_variant F32S 95T>C SKCA-BR 20 36012651 36012651 single base substitution T C upstream_gene_variant SKCA-BR 20 36012891 36012891 single base substitution T C downstream_gene_variant SKCA-BR 20 36012891 36012891 single base substitution T C intron_variant SKCA-BR 20 36012920 36012920 single base substitution T G downstream_gene_variant SKCA-BR 20 36012920 36012920 single base substitution T G intron_variant SKCA-BR 20 36012953 36012953 single base substitution T G downstream_gene_variant SKCA-BR 20 36012953 36012953 single base substitution T G intron_variant SKCA-BR 20 36013259 36013259 single base substitution C T downstream_gene_variant SKCA-BR 20 36013259 36013259 single base substitution C T intron_variant SKCA-BR 20 36014923 36014923 single base substitution C T downstream_gene_variant SKCA-BR 20 36014923 36014923 single base substitution C T intron_variant SKCA-BR 20 36015962 36015962 single base substitution T G downstream_gene_variant SKCA-BR 20 36015962 36015962 single base substitution T G intron_variant SKCA-BR 20 36015966 36015966 single base substitution A G downstream_gene_variant SKCA-BR 20 36015966 36015966 single base substitution A G intron_variant SKCA-BR 20 36016237 36016237 single base substitution C T intron_variant SKCA-BR 20 36018350 36018350 single base substitution C T intron_variant SKCA-BR 20 36018350 36018350 single base substitution C T upstream_gene_variant SKCA-BR 20 36019984 36019984 single base substitution C T intron_variant SKCA-BR 20 36019984 36019984 single base substitution C T upstream_gene_variant SKCA-BR 20 36020211 36020211 single base substitution C T intron_variant SKCA-BR 20 36020211 36020211 single base substitution C T upstream_gene_variant SKCA-BR 20 36023927 36023927 single base substitution G A downstream_gene_variant SKCA-BR 20 36023927 36023927 single base substitution G A intron_variant SKCA-BR 20 36023927 36023927 single base substitution G A upstream_gene_variant SKCA-BR 20 36025858 36025858 single base substitution C T downstream_gene_variant SKCA-BR 20 36025858 36025858 single base substitution C T intron_variant SKCA-BR 20 36025858 36025858 single base substitution C T upstream_gene_variant SKCA-BR 20 36028192 36028192 single base substitution A C downstream_gene_variant SKCA-BR 20 36028192 36028192 single base substitution A C intron_variant SKCA-BR 20 36028192 36028192 single base substitution A C upstream_gene_variant SKCA-BR 20 36029716 36029716 single base substitution C T downstream_gene_variant SKCA-BR 20 36029716 36029716 single base substitution C T intron_variant SKCA-BR 20 36029716 36029716 single base substitution C T upstream_gene_variant SKCA-BR 20 36032893 36032893 single base substitution C T 3_prime_UTR_variant SKCA-BR 20 36032893 36032893 single base substitution C T downstream_gene_variant SKCA-BR 20 36032893 36032893 single base substitution C T exon_variant SKCM-US 20 36012616 36012616 single base substitution C T downstream_gene_variant SKCM-US 20 36012616 36012616 single base substitution C T synonymous_variant P20P 60C>T SKCM-US 20 36012616 36012616 single base substitution C T upstream_gene_variant SKCM-US 20 36022382 36022382 single base substitution C T exon_variant SKCM-US 20 36022382 36022382 single base substitution C T synonymous_variant S145S 435C>T SKCM-US 20 36022382 36022382 single base substitution C T synonymous_variant S151S 453C>T SKCM-US 20 36022382 36022382 single base substitution C T upstream_gene_variant SKCM-US 20 36022652 36022652 single base substitution C T downstream_gene_variant SKCM-US 20 36022652 36022652 single base substitution C T exon_variant SKCM-US 20 36022652 36022652 single base substitution C T synonymous_variant F175F 525C>T SKCM-US 20 36022652 36022652 single base substitution C T synonymous_variant F181F 543C>T SKCM-US 20 36022652 36022652 single base substitution C T upstream_gene_variant SKCM-US 20 36028682 36028682 single base substitution G A downstream_gene_variant SKCM-US 20 36028682 36028682 single base substitution G A exon_variant SKCM-US 20 36028682 36028682 single base substitution G A missense_variant E342K 1024G>A SKCM-US 20 36028682 36028682 single base substitution G A missense_variant E348K 1042G>A SKCM-US 20 36028682 36028682 single base substitution G A upstream_gene_variant SKCM-US 20 36030030 36030030 single base substitution G A downstream_gene_variant SKCM-US 20 36030030 36030030 single base substitution G A exon_variant SKCM-US 20 36030030 36030030 single base substitution G A synonymous_variant G355G 1065G>A SKCM-US 20 36030030 36030030 single base substitution G A synonymous_variant G361G 1083G>A SKCM-US 20 36030030 36030030 single base substitution G A upstream_gene_variant SKCM-US 20 36031649 36031649 single base substitution C T downstream_gene_variant SKCM-US 20 36031649 36031649 single base substitution C T exon_variant SKCM-US 20 36031649 36031649 single base substitution C T missense_variant S493F 1478C>T SKCM-US 20 36031649 36031649 single base substitution C T missense_variant S499F 1496C>T SKCM-US 20 36031704 36031704 single base substitution C T downstream_gene_variant SKCM-US 20 36031704 36031704 single base substitution C T exon_variant SKCM-US 20 36031704 36031704 single base substitution C T synonymous_variant T511T 1533C>T SKCM-US 20 36031704 36031704 single base substitution C T synonymous_variant T517T 1551C>T SKCM-US 20 36031707 36031707 single base substitution C T downstream_gene_variant SKCM-US 20 36031707 36031707 single base substitution C T exon_variant SKCM-US 20 36031707 36031707 single base substitution C T synonymous_variant F512F 1536C>T SKCM-US 20 36031707 36031707 single base substitution C T synonymous_variant F518F 1554C>T SKCM-US 20 36031725 36031725 single base substitution C T downstream_gene_variant SKCM-US 20 36031725 36031725 single base substitution C T exon_variant SKCM-US 20 36031725 36031725 single base substitution C T synonymous_variant F518F 1554C>T SKCM-US 20 36031725 36031725 single base substitution C T synonymous_variant F524F 1572C>T STAD-US 20 36012784 36012784 deletion of <=200bp G - downstream_gene_variant STAD-US 20 36012784 36012784 deletion of <=200bp G - exon_variant STAD-US 20 36012784 36012784 deletion of <=200bp G - frameshift_variant P76 STAD-US 20 36024669 36024669 single base substitution C A downstream_gene_variant STAD-US 20 36024669 36024669 single base substitution C A exon_variant STAD-US 20 36024669 36024669 single base substitution C A missense_variant R220S 658C>A STAD-US 20 36024669 36024669 single base substitution C A missense_variant R226S 676C>A STAD-US 20 36024669 36024669 single base substitution C A upstream_gene_variant STAD-US 20 36031241 36031241 single base substitution C G downstream_gene_variant STAD-US 20 36031241 36031241 single base substitution C G exon_variant STAD-US 20 36031241 36031241 single base substitution C G missense_variant L454V 1360C>G STAD-US 20 36031241 36031241 single base substitution C G missense_variant L460V 1378C>G THCA-US 20 36031692 36031692 single base substitution G C downstream_gene_variant THCA-US 20 36031692 36031692 single base substitution G C exon_variant THCA-US 20 36031692 36031692 single base substitution G C missense_variant E507D 1521G>C THCA-US 20 36031692 36031692 single base substitution G C missense_variant E513D 1539G>C UCEC-US 20 36014499 36014499 single base substitution C T downstream_gene_variant UCEC-US 20 36014499 36014499 single base substitution C T exon_variant UCEC-US 20 36014499 36014499 single base substitution C T missense_variant A91V 272C>T UCEC-US 20 36022308 36022308 single base substitution T C exon_variant UCEC-US 20 36022308 36022308 single base substitution T C missense_variant W121R 361T>C UCEC-US 20 36022308 36022308 single base substitution T C missense_variant W127R 379T>C UCEC-US 20 36022308 36022308 single base substitution T C upstream_gene_variant UCEC-US 20 36022344 36022344 single base substitution G T exon_variant UCEC-US 20 36022344 36022344 single base substitution G T missense_variant G133C 397G>T UCEC-US 20 36022344 36022344 single base substitution G T missense_variant G139C 415G>T UCEC-US 20 36022344 36022344 single base substitution G T upstream_gene_variant UCEC-US 20 36022370 36022370 single base substitution G A exon_variant UCEC-US 20 36022370 36022370 single base substitution G A synonymous_variant A141A 423G>A UCEC-US 20 36022370 36022370 single base substitution G A synonymous_variant A147A 441G>A UCEC-US 20 36022370 36022370 single base substitution G A upstream_gene_variant UCEC-US 20 36026157 36026157 single base substitution G A downstream_gene_variant UCEC-US 20 36026157 36026157 single base substitution G A exon_variant UCEC-US 20 36026157 36026157 single base substitution G A synonymous_variant P253P 759G>A UCEC-US 20 36026157 36026157 single base substitution G A synonymous_variant P259P 777G>A UCEC-US 20 36026157 36026157 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 1_PRE-TREATMENT COSM1720559 c.1017C>T p.I339I Substitution - coding silent 20:37400272-37400272 + TCGA-ED-A5KG-01 COSM4921173 c.1367C>G p.T456S Substitution - Missense 20:37402845-37402845 + 1_RESISTANT COSM1720560 c.1517C>T p.P506L Substitution - Missense 20:37403285-37403285 + PTC-14C COSM4134510 c.678G>T p.L226L Substitution - coding silent 20:37396286-37396286 + 1_RESISTANT COSM1720559 c.1017C>T p.I339I Substitution - coding silent 20:37400272-37400272 + 2492720 COSM5723113 c.931C>T p.L311L Substitution - coding silent 20:37400186-37400186 + TCGA-GN-A266-06 COSM3546050 c.1024G>A p.E342K Substitution - Missense 20:37400279-37400279 + TCGA-BR-7703-01 COSM577554 c.658C>A p.R220S Substitution - Missense 20:37396266-37396266 + TCGA-36-2533-01 COSM1326758 c.411C>T p.S137S Substitution - coding silent 20:37393955-37393955 + RK123_C01 COSM3740117 c.464A>G p.K155R Substitution - Missense 20:37394188-37394188 + E11137 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + TCGA-GD-A3OP-01 COSM1307358 c.541G>A p.E181K Substitution - Missense 20:37394265-37394265 + TCGA-EB-A5UM-01 COSM3546047 c.60C>T p.P20P Substitution - coding silent 20:37384213-37384213 + TCGA-A3-3363-01 COSM478109 c.631G>A p.D211N Substitution - Missense 20:37396239-37396239 + 2521259 COSM5891202 c.98C>T p.P33L Substitution - Missense 20:37384251-37384251 + YUWAND COSM1713435 c.1282C>T p.P428S Substitution - Missense 20:37402760-37402760 + TCGA-04-1525-01 COSM116422 c.1219G>C p.D407H Substitution - Missense 20:37402537-37402537 + Gp5D COSM2760680 c.337A>T p.I113F Substitution - Missense 20:37386161-37386161 + 3N29-VS-3T29 COSM4980479 c.564C>T p.C188C Substitution - coding silent 20:37396172-37396172 + DM2 COSM5610700 c.1575C>T p.S525S Substitution - coding silent 20:37403343-37403343 + 46M COSM5589037 c.333C>T p.L111L Substitution - coding silent 20:37386157-37386157 + CSCC-10-T COSM4467372 c.1485C>G p.H495Q Substitution - Missense 20:37403253-37403253 + 2492721 COSM5723113 c.931C>T p.L311L Substitution - coding silent 20:37400186-37400186 + 2521259 COSM5891201 c.430G>A p.D144N Substitution - Missense 20:37393974-37393974 + TCGA-AA-A00K-01 COSM298520 c.423G>T p.A141A Substitution - coding silent 20:37393967-37393967 + XHDG20C COSM4767771 c.1282C>A p.P428T Substitution - Missense 20:37402760-37402760 + LIM1215 COSM186351 c.423G>A p.A141A Substitution - coding silent 20:37393967-37393967 + KM12 COSM1683230 c.767_768delAG p.Q256fs*67 Deletion - Frameshift 20:37397762-37397763 + E11131 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + LFS_MB4 COSM1132998 c.250+6T>G p.? Unknown 20:37384409-37384409 + DM16 COSM5610699 c.1287C>T p.I429I Substitution - coding silent 20:37402765-37402765 + TCGA-DI-A0WH-01 COSM1026516 c.1021A>G p.T341A Substitution - Missense 20:37400276-37400276 + 585210 COSM323610 c.1022C>G p.T341R Substitution - Missense 20:37400277-37400277 + 1_PRE-TREATMENT COSM1720560 c.1517C>T p.P506L Substitution - Missense 20:37403285-37403285 + TCGA-EE-A3J5-06 COSM3546053 c.1554C>T p.F518F Substitution - coding silent 20:37403322-37403322 + TCGA-BL-A0C8-01 COSM419412 c.17G>A p.S6N Substitution - Missense 20:37384170-37384170 + 61 COSM5741869 c.1600G>A p.E534K Substitution - Missense 20:37403368-37403368 + Detroit_562 COSM4594952 c.1218G>C p.A406A Substitution - coding silent 20:37402536-37402536 + sysucc-1150T COSM5452498 c.128C>T p.S43L Substitution - Missense 20:37384281-37384281 + TCGA-RP-A694-06 COSM4894119 c.1478C>T p.S493F Substitution - Missense 20:37403246-37403246 + 73 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + T578 COSM4729924 c.1219G>A p.D407N Substitution - Missense 20:37402537-37402537 + YUGATOR COSM5391992 c.15G>A p.K5K Substitution - coding silent 20:37384168-37384168 + S04-45633-TP COSM4991380 c.1551C>T p.A517A Substitution - coding silent 20:37403319-37403319 + TCGA-DI-A0WH-01 COSM1026509 c.361T>C p.W121R Substitution - Missense 20:37393905-37393905 + YUQUEST COSM4991380 c.1551C>T p.A517A Substitution - coding silent 20:37403319-37403319 + 17290 COSM49003 c.1402+1G>T p.? Unknown 20:37402881-37402881 + TCGA-BJ-A3EZ-01 COSM3371670 c.1521G>C p.E507D Substitution - Missense 20:37403289-37403289 + OSCC-GB_00810111 COSM4891218 c.785C>A p.A262D Substitution - Missense 20:37397780-37397780 + TCGA-AA-3672-01 COSM267500 c.813G>A p.R271R Substitution - coding silent 20:37397808-37397808 + RMS10_ COSM4985957 c.506A>G p.E169G Substitution - Missense 20:37394230-37394230 + TCGA-D1-A167-01 COSM1026514 c.759G>A p.P253P Substitution - coding silent 20:37397754-37397754 + J74_T COSM3963533 c.405C>T p.I135I Substitution - coding silent 20:37393949-37393949 + TCGA-19-2631 COSM2156386 c.1040G>A p.G347E Substitution - Missense 20:37401602-37401602 + TCGA-AP-A059-01 COSM1026507 c.272C>T p.A91V Substitution - Missense 20:37386096-37386096 + PT52 COSM5941050 c.448G>A p.E150K Substitution - Missense 20:37393992-37393992 + TCGA-19-2631-01 COSM2156386 c.1040G>A p.G347E Substitution - Missense 20:37401602-37401602 + TCGA-CM-4746-01 COSM1411596 c.588C>T p.N196N Substitution - coding silent 20:37396196-37396196 + PCSI_0083_Pa_P_526 COSM3389722 c.1579G>A p.E527K Substitution - Missense 20:37403347-37403347 + 182T COSM5576141 c.950T>A p.M317K Substitution - Missense 20:37400205-37400205 + HCT15 COSM4632824 c.51C>T p.S17S Substitution - coding silent 20:37384204-37384204 + TCGA-41-3393-01 COSM3405054 c.832C>G p.Q278E Substitution - Missense 20:37397827-37397827 + TCGA-AA-A00K-01 COSM298519 c.421G>A p.A141T Substitution - Missense 20:37393965-37393965 + TCGA-FS-A4F9-06 COSM3546052 c.1536C>T p.F512F Substitution - coding silent 20:37403304-37403304 + Gp2D COSM2760680 c.337A>T p.I113F Substitution - Missense 20:37386161-37386161 + SJRHB020A COSM3738173 c.780G>T p.K260N Substitution - Missense 20:37397775-37397775 + C086 COSM5539709 c.312C>T p.S104S Substitution - coding silent 20:37386136-37386136 + SH-4435 COSM5020149 c.1578C>T p.T526T Substitution - coding silent 20:37403346-37403346 + T3064 COSM2760695 c.1155C>T p.Y385Y Substitution - coding silent 20:37402473-37402473 + LUAD-F00257 COSM340167 c.363G>T p.W121C Substitution - Missense 20:37393907-37393907 + 2492723 COSM5723113 c.931C>T p.L311L Substitution - coding silent 20:37400186-37400186 + 8057714 COSM3770790 c.703+10C>T p.? Unknown 20:37396321-37396321 + TCGA-DK-A3IV-01 COSM1307357 c.76G>A p.G26S Substitution - Missense 20:37384229-37384229 + TCGA-D1-A103-01 COSM186351 c.423G>A p.A141A Substitution - coding silent 20:37393967-37393967 + TCGA-GN-A262-06 COSM3546051 c.1533C>T p.T511T Substitution - coding silent 20:37403301-37403301 + TCGA-AC-A23H-01 COSM3840930 c.651C>T p.I217I Substitution - coding silent 20:37396259-37396259 + T3658 COSM4729923 c.330G>A p.R110R Substitution - coding silent 20:37386154-37386154 + S09-2518-TP COSM4991378 c.131C>T p.A44V Substitution - Missense 20:37384284-37384284 + E11129 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + CPCG0103-P6 COSM3396381 c.209C>T p.S70L Substitution - Missense 20:37384362-37384362 + T3204 COSM4729922 c.6T>G p.G2G Substitution - coding silent 20:37384159-37384159 + 409 COSM4430704 c.1262C>T p.A421V Substitution - Missense 20:37402580-37402580 + LS411 COSM2760694 c.1138G>A p.V380M Substitution - Missense 20:37402456-37402456 + DM8 COSM5610701 c.546C>T p.T182T Substitution - coding silent 20:37394270-37394270 + E11135 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + TCGA-EE-A2A2-06 COSM3546049 c.525C>T p.F175F Substitution - coding silent 20:37394249-37394249 + TCGA-AD-6899-01 COSM3693474 c.1571C>T p.T524M Substitution - Missense 20:37403339-37403339 + CSCC-31-T COSM4447224 c.1611G>AA p.? Unknown 20:37403379-37403380 + TCGA-02-0010-01 COSM35455 c.90C>T p.G30G Substitution - coding silent 20:37384243-37384243 + 61 COSM5741868 c.679C>T p.Q227* Substitution - Nonsense 20:37396287-37396287 + KM12 COSM1683230 c.767_768delAG p.Q256fs*67 Deletion - Frameshift 20:37397762-37397763 + S09-2518-TP COSM4991379 c.132C>T p.A44A Substitution - coding silent 20:37384285-37384285 + E11133 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + TCGA-G4-6588-01 COSM1411597 c.681G>A p.Q227Q Substitution - coding silent 20:37396289-37396289 + 587316 COSM1227526 c.1460C>T p.P487L Substitution - Missense 20:37403228-37403228 + ESCC_28 COSM5627342 c.99C>T p.P33P Substitution - coding silent 20:37384252-37384252 + E12306 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + YURTHE COSM1713434 c.406C>T p.P136S Substitution - Missense 20:37393950-37393950 + TCGA-B0-4822-01 COSM3363229 c.926C>T p.A309V Substitution - Missense 20:37400181-37400181 + TCGA-FS-A1YY-06 COSM3546048 c.435C>T p.S145S Substitution - coding silent 20:37393979-37393979 + PT50 COSM5937871 c.1316A>C p.Y439S Substitution - Missense 20:37402794-37402794 + E11132 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + 587342 COSM1227527 c.1081C>A p.L361M Substitution - Missense 20:37401643-37401643 + E11130 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + TCGA-A4-A48D-01 COSM3991686 c.756G>T p.K252N Substitution - Missense 20:37397751-37397751 + PR-2858 COSM247595 c.346A>G p.N116D Substitution - Missense 20:37386170-37386170 + SH-6055 COSM5020526 c.449+9C>T p.? Unknown 20:37394002-37394002 + T368 COSM2760689 c.750G>A p.T250T Substitution - coding silent 20:37397745-37397745 + TCGA-B5-A11E-01 COSM1026511 c.397G>T p.G133C Substitution - Missense 20:37393941-37393941 + E11134 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + I2L-P7-Tumor-Organoid COSM5366074 c.1489C>T p.L497F Substitution - Missense 20:37403257-37403257 + TCGA-BP-4976-01 COSM478108 c.591C>A p.A197A Substitution - coding silent 20:37396199-37396199 + 514 COSM5612000 c.1200C>G p.N400K Substitution - Missense 20:37402518-37402518 + TCGA-H4-A2HQ-01 COSM1307359 c.1171C>T p.R391C Substitution - Missense 20:37402489-37402489 + 2492722 COSM5723113 c.931C>T p.L311L Substitution - coding silent 20:37400186-37400186 + TCGA-FW-A3R5-06 COSM3911233 c.1065G>A p.G355G Substitution - coding silent 20:37401627-37401627 + TCGA-BR-8588-01 COSM4098143 c.1360C>G p.L454V Substitution - Missense 20:37402838-37402838 + 8035681 COSM3389722 c.1579G>A p.E527K Substitution - Missense 20:37403347-37403347 + E11136 COSM1369 c.1591C>T p.Q531* Substitution - Nonsense 20:37403359-37403359 + TCGA-D8-A1J8-01 COSM3840931 c.806C>T p.S269L Substitution - Missense 20:37397801-37397801 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.195659 20q12-q13 190090

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1402+15A>G 20 36031298 STAD C A IntronicSNV . c.450-4C>A 20 36022573 STAD C A Synonymous p.A197A c.591C>A 20 36024602 RCCC C G Missense p.Q278E c.832C>G 20 36026230 GBM C G Missense p.T341R c.1022C>G 20 36028680 SCLC C T Missense p.A309V c.926C>T 20 36028584 RCCC C T Missense p.R391C c.1171C>T 20 36030892 BLCA C T Synonymous p.F175F c.525C>T 20 36022652 CM C T Synonymous p.F518F c.1554C>T 20 36031725 CM C T Synonymous p.N196N c.588C>T 20 36024599 BRCA C T Synonymous p.N290N c.870C>T 20 36028528 BRCA C T Synonymous p.P33P c.99C>T 20 36012655 HNSC C T Synonymous p.S145S c.435C>T 20 36022382 CM C T Synonymous p.S450S c.1350C>T 20 36031231 CM C T Synonymous p.T511T c.1533C>T 20 36031704 CM G A Missense p.A141T c.421G>A 20 36022368 COREAD G A Missense p.D211N c.631G>A 20 36024642 RCCC G A Missense p.E181K c.541G>A 20 36022668 BLCA G A Missense p.G26S c.76G>A 20 36012632 BLCA G A Missense p.G347E c.1040G>A 20 36030005 GBM G A Missense p.S6N c.17G>A 20 36012573 BLCA G A Missense p.V340I c.1018G>A 20 36028676 COREAD G C Missense p.E507D c.1521G>C 20 36031692 THCA G T Missense p.S225I c.674G>T 20 36024685 HNSC G T SpliceDonorSNV . c.1402+1G>T 20 36031284 LUAD G T Synonymous p.A141A c.423G>T 20 36022370 COREAD T C Missense p.W121R c.361T>C 20 36022308 UCEC T - IntronicDeletion . c.1116+335delT 20 36030406 STAD