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 ACC 10 103371420 103371420 + Missense_Mutation SNP G G A TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr10:103371420G>A c.1084C>T c.(1084-1086)Cgg>Tgg p.R362W BLCA 10 103371487 103371487 + Silent SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr10:103371487G>A c.1017C>T c.(1015-1017)acC>acT p.T339T BLCA 10 103371502 103371502 + Missense_Mutation SNP C C A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr10:103371502C>A c.1002G>T c.(1000-1002)gaG>gaT p.E334D BLCA 10 103372196 103372196 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr10:103372196G>A c.875C>T c.(874-876)cCa>cTa p.P292L BLCA 10 103433254 103433254 + Missense_Mutation SNP C C T TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr10:103433254C>T c.533G>A c.(532-534)aGt>aAt p.S178N BLCA 10 103433334 103433334 + Silent SNP C C T TCGA-FD-A5BX-01A-11D-A26M-08 TCGA-FD-A5BX-10A-01D-A26K-08 g.chr10:103433334C>T c.453G>A c.(451-453)ttG>ttA p.L151L BLCA 10 103454358 103454360 + In_Frame_Del DEL CCT CCT - TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 g.chr10:103454358_103454360delCCT c.38_40delAGG c.(37-42)gaggcg>gcg p.E13del BRCA 10 103371089 103371089 + Missense_Mutation SNP G G T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr10:103371089G>T c.1198C>A c.(1198-1200)Ctg>Atg p.L400M BRCA 10 103427732 103427732 + Nonsense_Mutation SNP C C T TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 g.chr10:103427732C>T c.681G>A c.(679-681)tgG>tgA p.W227* BRCA 10 103432723 103432724 + Frame_Shift_Del DEL CA CA - TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 g.chr10:103432723_103432724delCA c.623_624delTG c.(622-624)gtgfs p.V208fs CESC 10 103427677 103427677 + Nonsense_Mutation SNP G G A TCGA-C5-A7UH-01A-11D-A351-09 TCGA-C5-A7UH-10A-01D-A351-09 g.chr10:103427677G>A c.736C>T c.(736-738)Cga>Tga p.R246* CESC 10 103433427 103433427 + Missense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr10:103433427C>G c.360G>C c.(358-360)caG>caC p.Q120H COAD 10 103371150 103371150 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr10:103371150C>T c.1137G>A c.(1135-1137)tcG>tcA p.S379S COAD 10 103371383 103371383 + Splice_Site SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr10:103371383A>G c.e8+1 COAD 10 103371405 103371405 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr10:103371405G>A c.1099C>T c.(1099-1101)Cgt>Tgt p.R367C COAD 10 103371430 103371430 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr10:103371430G>A c.1074C>T c.(1072-1074)taC>taT p.Y358Y COAD 10 103372099 103372099 + Silent SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr10:103372099G>A c.972C>T c.(970-972)agC>agT p.S324S COAD 10 103372201 103372201 + Frame_Shift_Del DEL A A - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:103372201delA c.870delT c.(868-870)tttfs p.F290fs COAD 10 103432678 103432678 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr10:103432678C>T c.669G>A c.(667-669)acG>acA p.T223T COAD 10 103433353 103433353 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr10:103433353C>T c.434G>A c.(433-435)cGt>cAt p.R145H COADREAD 10 103371150 103371150 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr10:103371150C>T c.1137G>A c.(1135-1137)tcG>tcA p.S379S COADREAD 10 103371383 103371383 + Splice_Site SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr10:103371383A>G c.e8+1 COADREAD 10 103371405 103371405 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr10:103371405G>A c.1099C>T c.(1099-1101)Cgt>Tgt p.R367C COADREAD 10 103371430 103371430 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr10:103371430G>A c.1074C>T c.(1072-1074)taC>taT p.Y358Y COADREAD 10 103372099 103372099 + Silent SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr10:103372099G>A c.972C>T c.(970-972)agC>agT p.S324S COADREAD 10 103372201 103372201 + Frame_Shift_Del DEL A A - TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr10:103372201delA c.870delT c.(868-870)tttfs p.F290fs COADREAD 10 103427654 103427655 + Missense_Mutation DNP GC GC AT TCGA-AG-3882-01A-01W-0899-10 TCGA-AG-3882-10A-01W-0901-10 g.chr10:103427654_103427655GC>AT c.758_759GC>AT c.(757-759)aGC>aAT p.S253N COADREAD 10 103432678 103432678 + Silent SNP C C T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr10:103432678C>T c.669G>A c.(667-669)acG>acA p.T223T COADREAD 10 103433353 103433353 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr10:103433353C>T c.434G>A c.(433-435)cGt>cAt p.R145H GBMLGG 10 103433381 103433381 + Frame_Shift_Del DEL C C - TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr10:103433381delC c.406delG c.(406-408)gctfs p.A136fs HNSC 10 103371394 103371394 + Silent SNP G G A TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 g.chr10:103371394G>A c.1110C>T c.(1108-1110)gcC>gcT p.A370A HNSC 10 103432746 103432746 + Missense_Mutation SNP G G A TCGA-CN-4735-01A-01D-1434-08 TCGA-CN-4735-10A-01D-1434-08 g.chr10:103432746G>A c.601C>T c.(601-603)Cat>Tat p.H201Y LGG 10 103433381 103433381 + Frame_Shift_Del DEL C C - TCGA-P5-A5EZ-01A-11D-A27K-08 TCGA-P5-A5EZ-10A-01D-A27N-08 g.chr10:103433381delC c.406delG c.(406-408)gctfs p.A136fs LIHC 10 103372236 103372236 + Splice_Site SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr10:103372236T>C c.e7-2 LIHC 10 103427709 103427709 + Missense_Mutation SNP C C T TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr10:103427709C>T c.704G>A c.(703-705)gGg>gAg p.G235E LIHC 10 103433426 103433426 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr10:103433426T>C c.361A>G c.(361-363)Atg>Gtg p.M121V LUAD 10 103372211 103372211 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr10:103372211C>A c.860G>T c.(859-861)gGc>gTc p.G287V LUAD 10 103384540 103384540 + Silent SNP G G A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr10:103384540G>A c.798C>T c.(796-798)tgC>tgT p.C266C LUAD 10 103427688 103427688 + Missense_Mutation SNP T T C TCGA-78-7536-01A-11D-2063-08 TCGA-78-7536-10A-01D-2063-08 g.chr10:103427688T>C c.725A>G c.(724-726)cAg>cGg p.Q242R OV 10 103371507 103371507 + Missense_Mutation SNP C C T TCGA-29-1771-01A-01W-0633-09 TCGA-29-1771-10A-01W-0634-09 g.chr10:103371507C>T c.997G>A c.(997-999)Gag>Aag p.E333K PAAD 10 103427655 103427655 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr10:103427655C>A c.758G>T c.(757-759)aGc>aTc p.S253I READ 10 103427654 103427655 + Missense_Mutation DNP GC GC AT TCGA-AG-3882-01A-01W-0899-10 TCGA-AG-3882-10A-01W-0901-10 g.chr10:103427654_103427655GC>AT c.758_759GC>AT c.(757-759)aGC>aAT p.S253N SKCM 10 103371486 103371486 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr10:103371486G>A c.1018C>T c.(1018-1020)Ctg>Ttg p.L340L SKCM 10 103433321 103433321 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr10:103433321G>A c.466C>T c.(466-468)Ctg>Ttg p.L156L SKCM 10 103433355 103433355 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr10:103433355G>A c.432C>T c.(430-432)ttC>ttT p.F144F SKCM 10 103433355 103433355 + Silent SNP G G A TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr10:103433355G>A c.432C>T c.(430-432)ttC>ttT p.F144F SKCM 10 103433355 103433355 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr10:103433355G>A c.432C>T c.(430-432)ttC>ttT p.F144F SKCM 10 103433373 103433373 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr10:103433373G>A c.414C>T c.(412-414)ttC>ttT p.F138F

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 10 103372196 103372196 single base substitution G A exon_variant BLCA-US 10 103372196 103372196 single base substitution G A missense_variant P292L 875C>T BLCA-US 10 103454358 103454360 deletion of <=200bp CCT - disruptive_inframe_deletion EA13A BLCA-US 10 103454358 103454360 deletion of <=200bp CCT - intron_variant BRCA-EU 10 103368871 103368871 single base substitution G C downstream_gene_variant BRCA-EU 10 103370682 103370682 single base substitution C G 3_prime_UTR_variant BRCA-EU 10 103370682 103370682 single base substitution C G downstream_gene_variant BRCA-EU 10 103370682 103370682 single base substitution C G exon_variant BRCA-EU 10 103371069 103371069 single base substitution G C downstream_gene_variant BRCA-EU 10 103371069 103371069 single base substitution G C exon_variant BRCA-EU 10 103371069 103371069 single base substitution G C synonymous_variant V406V 1218C>G BRCA-EU 10 103372361 103372361 single base substitution G A intron_variant BRCA-EU 10 103372783 103372783 single base substitution C T exon_variant BRCA-EU 10 103372783 103372783 single base substitution C T intron_variant BRCA-EU 10 103373389 103373389 single base substitution C T intron_variant BRCA-EU 10 103373389 103373389 single base substitution C T upstream_gene_variant BRCA-EU 10 103375440 103375440 single base substitution G C intron_variant BRCA-EU 10 103375440 103375440 single base substitution G C upstream_gene_variant BRCA-EU 10 103376142 103376142 single base substitution T A intron_variant BRCA-EU 10 103376142 103376142 single base substitution T A upstream_gene_variant BRCA-EU 10 103376203 103376203 single base substitution C T intron_variant BRCA-EU 10 103376203 103376203 single base substitution C T upstream_gene_variant BRCA-EU 10 103376567 103376567 single base substitution G C intron_variant BRCA-EU 10 103376567 103376567 single base substitution G C upstream_gene_variant BRCA-EU 10 103377629 103377629 single base substitution G T intron_variant BRCA-EU 10 103377629 103377629 single base substitution G T upstream_gene_variant BRCA-EU 10 103379796 103379796 single base substitution G C downstream_gene_variant BRCA-EU 10 103379796 103379796 single base substitution G C intron_variant BRCA-EU 10 103379983 103379983 single base substitution C T downstream_gene_variant BRCA-EU 10 103379983 103379983 single base substitution C T intron_variant BRCA-EU 10 103382018 103382018 single base substitution G A downstream_gene_variant BRCA-EU 10 103382018 103382018 single base substitution G A intron_variant BRCA-EU 10 103384210 103384210 single base substitution G C downstream_gene_variant BRCA-EU 10 103384210 103384210 single base substitution G C intron_variant BRCA-EU 10 103386020 103386020 single base substitution C A exon_variant BRCA-EU 10 103386020 103386020 single base substitution C A intron_variant BRCA-EU 10 103386021 103386021 single base substitution C A exon_variant BRCA-EU 10 103386021 103386021 single base substitution C A intron_variant BRCA-EU 10 103386910 103386910 single base substitution G A intron_variant BRCA-EU 10 103386910 103386910 single base substitution G A upstream_gene_variant BRCA-EU 10 103387352 103387352 single base substitution A T intron_variant BRCA-EU 10 103387352 103387352 single base substitution A T upstream_gene_variant BRCA-EU 10 103390196 103390196 single base substitution C T intron_variant BRCA-EU 10 103390196 103390196 single base substitution C T upstream_gene_variant BRCA-EU 10 103390752 103390752 single base substitution G A intron_variant BRCA-EU 10 103390752 103390752 single base substitution G A upstream_gene_variant BRCA-EU 10 103390816 103390816 single base substitution T A intron_variant BRCA-EU 10 103390816 103390816 single base substitution T A upstream_gene_variant BRCA-EU 10 103391135 103391135 single base substitution A T intron_variant BRCA-EU 10 103391135 103391135 single base substitution A T upstream_gene_variant BRCA-EU 10 103391209 103391209 deletion of <=200bp A - intron_variant BRCA-EU 10 103391209 103391209 deletion of <=200bp A - upstream_gene_variant BRCA-EU 10 103392086 103392086 single base substitution T G intron_variant BRCA-EU 10 103392322 103392322 single base substitution G A intron_variant BRCA-EU 10 103392593 103392593 single base substitution C A intron_variant BRCA-EU 10 103392869 103392869 single base substitution G C intron_variant BRCA-EU 10 103393870 103393870 insertion of <=200bp - A intron_variant BRCA-EU 10 103394044 103394044 insertion of <=200bp - TCTTTACTAA intron_variant BRCA-EU 10 103395090 103395090 single base substitution C T intron_variant BRCA-EU 10 103395106 103395108 deletion of <=200bp ATA - intron_variant BRCA-EU 10 103396987 103397027 multiple base substitution (>=2bp and <=200bp) AAAAAAAAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGT AAATTAGCCAGGTGTGGTGGTGCATGCCTGT intron_variant BRCA-EU 10 103401450 103401450 deletion of <=200bp T - intron_variant BRCA-EU 10 103401450 103401450 insertion of <=200bp - T intron_variant BRCA-EU 10 103403592 103403592 single base substitution G T intron_variant BRCA-EU 10 103404360 103404360 single base substitution C A intron_variant BRCA-EU 10 103407231 103407231 single base substitution C A intron_variant BRCA-EU 10 103408603 103408603 single base substitution A C intron_variant BRCA-EU 10 103409028 103409028 single base substitution T C intron_variant BRCA-EU 10 103410294 103410294 single base substitution C A intron_variant BRCA-EU 10 103410793 103410793 insertion of <=200bp - A intron_variant BRCA-EU 10 103411131 103411131 single base substitution G C intron_variant BRCA-EU 10 103412228 103412228 single base substitution A G intron_variant BRCA-EU 10 103413722 103413722 single base substitution G A intron_variant BRCA-EU 10 103414520 103414520 single base substitution G C intron_variant BRCA-EU 10 103416955 103416955 single base substitution G C intron_variant BRCA-EU 10 103417284 103417284 single base substitution G T intron_variant BRCA-EU 10 103417781 103417781 single base substitution G C intron_variant BRCA-EU 10 103418901 103418901 single base substitution C A intron_variant BRCA-EU 10 103420773 103420773 single base substitution G C intron_variant BRCA-EU 10 103424880 103424880 single base substitution G A intron_variant BRCA-EU 10 103425658 103425658 single base substitution G C intron_variant BRCA-EU 10 103425679 103425679 single base substitution G C intron_variant BRCA-EU 10 103425711 103425711 single base substitution G C intron_variant BRCA-EU 10 103426180 103426180 insertion of <=200bp - A intron_variant BRCA-EU 10 103426256 103426256 single base substitution G C intron_variant BRCA-EU 10 103427867 103427867 single base substitution C G intron_variant BRCA-EU 10 103428241 103428241 single base substitution G A intron_variant BRCA-EU 10 103428446 103428446 single base substitution T C downstream_gene_variant BRCA-EU 10 103428446 103428446 single base substitution T C intron_variant BRCA-EU 10 103429453 103429453 single base substitution C G downstream_gene_variant BRCA-EU 10 103429453 103429453 single base substitution C G intron_variant BRCA-EU 10 103429759 103429759 single base substitution G A downstream_gene_variant BRCA-EU 10 103429759 103429759 single base substitution G A intron_variant BRCA-EU 10 103430311 103430311 single base substitution C G downstream_gene_variant BRCA-EU 10 103430311 103430311 single base substitution C G intron_variant BRCA-EU 10 103430735 103430735 single base substitution A G downstream_gene_variant BRCA-EU 10 103430735 103430735 single base substitution A G intron_variant BRCA-EU 10 103430813 103430813 single base substitution G A downstream_gene_variant BRCA-EU 10 103430813 103430813 single base substitution G A intron_variant BRCA-EU 10 103431770 103431770 single base substitution C T downstream_gene_variant BRCA-EU 10 103431770 103431770 single base substitution C T intron_variant BRCA-EU 10 103432828 103432828 insertion of <=200bp - C downstream_gene_variant BRCA-EU 10 103432828 103432828 insertion of <=200bp - C intron_variant BRCA-EU 10 103433920 103433920 single base substitution C G intron_variant BRCA-EU 10 103435142 103435142 single base substitution G C intron_variant BRCA-EU 10 103435612 103435612 single base substitution T A intron_variant BRCA-EU 10 103436002 103436002 single base substitution G C intron_variant BRCA-EU 10 103436113 103436113 single base substitution A G exon_variant BRCA-EU 10 103436113 103436113 single base substitution A G missense_variant L114P 341T>C BRCA-EU 10 103437343 103437343 single base substitution A C intron_variant BRCA-EU 10 103437343 103437343 single base substitution A C upstream_gene_variant BRCA-EU 10 103438428 103438428 single base substitution A T intron_variant BRCA-EU 10 103438428 103438428 single base substitution A T upstream_gene_variant BRCA-EU 10 103438968 103438968 single base substitution G A intron_variant BRCA-EU 10 103438968 103438968 single base substitution G A upstream_gene_variant BRCA-EU 10 103439639 103439639 deletion of <=200bp C - intron_variant BRCA-EU 10 103439639 103439639 deletion of <=200bp C - upstream_gene_variant BRCA-EU 10 103440447 103440448 deletion of <=200bp AA - intron_variant BRCA-EU 10 103440447 103440448 deletion of <=200bp AA - upstream_gene_variant BRCA-EU 10 103441106 103441106 single base substitution T C intron_variant BRCA-EU 10 103441106 103441106 single base substitution T C upstream_gene_variant BRCA-EU 10 103441262 103441262 single base substitution C T intron_variant BRCA-EU 10 103441262 103441262 single base substitution C T upstream_gene_variant BRCA-EU 10 103441869 103441869 single base substitution G A intron_variant BRCA-EU 10 103443167 103443167 single base substitution G C intron_variant BRCA-EU 10 103443250 103443250 single base substitution G A intron_variant BRCA-EU 10 103443481 103443481 single base substitution C A intron_variant BRCA-EU 10 103443731 103443731 single base substitution A T intron_variant BRCA-EU 10 103444185 103444185 single base substitution C T intron_variant BRCA-EU 10 103444613 103444613 single base substitution C A intron_variant BRCA-EU 10 103444614 103444614 single base substitution A G intron_variant BRCA-EU 10 103446304 103446304 single base substitution G C intron_variant BRCA-EU 10 103447203 103447203 single base substitution C A intron_variant BRCA-EU 10 103450604 103450604 single base substitution C G intron_variant BRCA-EU 10 103451323 103451323 deletion of <=200bp T - intron_variant BRCA-EU 10 103451515 103451515 single base substitution A T intron_variant BRCA-EU 10 103453851 103453851 single base substitution G A intron_variant BRCA-EU 10 103456209 103456209 deletion of <=200bp T - upstream_gene_variant BRCA-EU 10 103457278 103457278 single base substitution C G upstream_gene_variant BRCA-EU 10 103457504 103457524 deletion of <=200bp CATCATTAAAGCGGCCGGGCG - upstream_gene_variant BRCA-EU 10 103458044 103458044 single base substitution G C upstream_gene_variant BRCA-EU 10 103459307 103459307 single base substitution G A upstream_gene_variant BRCA-FR 10 103372361 103372361 single base substitution G A intron_variant BRCA-FR 10 103376567 103376567 single base substitution G C intron_variant BRCA-FR 10 103376567 103376567 single base substitution G C upstream_gene_variant BRCA-FR 10 103379983 103379983 single base substitution C T downstream_gene_variant BRCA-FR 10 103379983 103379983 single base substitution C T intron_variant BRCA-FR 10 103384210 103384210 single base substitution G C downstream_gene_variant BRCA-FR 10 103384210 103384210 single base substitution G C intron_variant BRCA-FR 10 103426256 103426256 single base substitution G C intron_variant BRCA-FR 10 103444185 103444185 single base substitution C T intron_variant BRCA-FR 10 103458044 103458044 single base substitution G C upstream_gene_variant BRCA-UK 10 103367071 103367071 single base substitution G C downstream_gene_variant BRCA-UK 10 103396923 103396923 single base substitution G A intron_variant BRCA-UK 10 103397265 103397265 single base substitution G C intron_variant BRCA-UK 10 103408603 103408603 single base substitution A C intron_variant BRCA-UK 10 103418608 103418608 single base substitution G A intron_variant BRCA-UK 10 103418992 103418992 single base substitution G C intron_variant BRCA-UK 10 103419290 103419290 single base substitution G C intron_variant BRCA-UK 10 103419364 103419364 single base substitution G C intron_variant BRCA-UK 10 103432539 103432539 single base substitution G A downstream_gene_variant BRCA-UK 10 103432539 103432539 single base substitution G A intron_variant BRCA-UK 10 103447203 103447203 single base substitution C A intron_variant BRCA-US 10 103368704 103368704 single base substitution A C downstream_gene_variant BRCA-US 10 103371089 103371089 single base substitution G T downstream_gene_variant BRCA-US 10 103371089 103371089 single base substitution G T exon_variant BRCA-US 10 103371089 103371089 single base substitution G T missense_variant L400M 1198C>A BRCA-US 10 103384621 103384621 single base substitution G C exon_variant BRCA-US 10 103384621 103384621 single base substitution G C intron_variant BRCA-US 10 103427732 103427732 single base substitution C T exon_variant BRCA-US 10 103427732 103427732 single base substitution C T stop_gained W227* 681G>A BRCA-US 10 103432723 103432724 deletion of <=200bp CA - downstream_gene_variant BRCA-US 10 103432723 103432724 deletion of <=200bp CA - exon_variant BRCA-US 10 103432723 103432724 deletion of <=200bp CA - frameshift_variant V208 CESC-US 10 103368658 103368658 single base substitution G A downstream_gene_variant CESC-US 10 103368688 103368688 single base substitution C T downstream_gene_variant CESC-US 10 103386256 103386256 insertion of <=200bp - T exon_variant CESC-US 10 103386256 103386256 insertion of <=200bp - T intron_variant CESC-US 10 103427677 103427677 single base substitution G A exon_variant CESC-US 10 103427677 103427677 single base substitution G A stop_gained R246* 736C>T CESC-US 10 103433427 103433427 single base substitution C G exon_variant CESC-US 10 103433427 103433427 single base substitution C G missense_variant Q120H 360G>C CLLE-ES 10 103370881 103370881 single base substitution A G 3_prime_UTR_variant CLLE-ES 10 103370881 103370881 single base substitution A G downstream_gene_variant CLLE-ES 10 103370881 103370881 single base substitution A G exon_variant CLLE-ES 10 103383613 103383613 single base substitution A G downstream_gene_variant CLLE-ES 10 103383613 103383613 single base substitution A G intron_variant CLLE-ES 10 103390630 103390630 single base substitution G A intron_variant CLLE-ES 10 103390630 103390630 single base substitution G A upstream_gene_variant CLLE-ES 10 103395092 103395092 single base substitution T A intron_variant CLLE-ES 10 103402761 103402761 single base substitution T A intron_variant CLLE-ES 10 103414506 103414506 single base substitution C A intron_variant CLLE-ES 10 103420422 103420422 single base substitution A G intron_variant CLLE-ES 10 103431136 103431136 single base substitution C A downstream_gene_variant CLLE-ES 10 103431136 103431136 single base substitution C A intron_variant CLLE-ES 10 103431434 103431434 single base substitution G A downstream_gene_variant CLLE-ES 10 103431434 103431434 single base substitution G A intron_variant CLLE-ES 10 103431606 103431606 single base substitution A G downstream_gene_variant CLLE-ES 10 103431606 103431606 single base substitution A G intron_variant CLLE-ES 10 103447136 103447136 single base substitution T A intron_variant COAD-US 10 103368654 103368654 single base substitution T C downstream_gene_variant COAD-US 10 103371383 103371383 single base substitution A G downstream_gene_variant COAD-US 10 103371383 103371383 single base substitution A G splice_donor_variant COAD-US 10 103371430 103371430 single base substitution G A exon_variant COAD-US 10 103371430 103371430 single base substitution G A synonymous_variant Y358Y 1074C>T COAD-US 10 103372099 103372099 single base substitution G A exon_variant COAD-US 10 103372099 103372099 single base substitution G A synonymous_variant S324S 972C>T COAD-US 10 103372201 103372201 deletion of <=200bp A - exon_variant COAD-US 10 103372201 103372201 deletion of <=200bp A - frameshift_variant F290 COAD-US 10 103432678 103432678 single base substitution C T downstream_gene_variant COAD-US 10 103432678 103432678 single base substitution C T exon_variant COAD-US 10 103432678 103432678 single base substitution C T synonymous_variant T223T 669G>A COCA-CN 10 103371210 103371210 single base substitution G C downstream_gene_variant COCA-CN 10 103371210 103371210 single base substitution G C intron_variant COCA-CN 10 103372438 103372438 single base substitution C T intron_variant COCA-CN 10 103402154 103402154 single base substitution T A intron_variant COCA-CN 10 103402156 103402156 single base substitution A T intron_variant COCA-CN 10 103421406 103421406 single base substitution T C intron_variant COCA-CN 10 103423408 103423408 single base substitution G A intron_variant COCA-CN 10 103457386 103457386 single base substitution T C upstream_gene_variant ESAD-UK 10 103372370 103372370 single base substitution G A intron_variant ESAD-UK 10 103376178 103376178 single base substitution A C intron_variant ESAD-UK 10 103376178 103376178 single base substitution A C upstream_gene_variant ESAD-UK 10 103380479 103380479 single base substitution A G downstream_gene_variant ESAD-UK 10 103380479 103380479 single base substitution A G intron_variant ESAD-UK 10 103383910 103383910 single base substitution A C downstream_gene_variant ESAD-UK 10 103383910 103383910 single base substitution A C intron_variant ESAD-UK 10 103385248 103385248 single base substitution C T exon_variant ESAD-UK 10 103385248 103385248 single base substitution C T intron_variant ESAD-UK 10 103387597 103387597 single base substitution T C intron_variant ESAD-UK 10 103387597 103387597 single base substitution T C upstream_gene_variant ESAD-UK 10 103387813 103387813 single base substitution G T intron_variant ESAD-UK 10 103387813 103387813 single base substitution G T upstream_gene_variant ESAD-UK 10 103388064 103388064 single base substitution A C intron_variant ESAD-UK 10 103388064 103388064 single base substitution A C upstream_gene_variant ESAD-UK 10 103393959 103393959 insertion of <=200bp - A intron_variant ESAD-UK 10 103398492 103398492 single base substitution T G intron_variant ESAD-UK 10 103398531 103398531 single base substitution G T intron_variant ESAD-UK 10 103403700 103403700 single base substitution G A intron_variant ESAD-UK 10 103404795 103404795 single base substitution C T intron_variant ESAD-UK 10 103406266 103406266 single base substitution C T intron_variant ESAD-UK 10 103413357 103413357 single base substitution G A intron_variant ESAD-UK 10 103415152 103415152 single base substitution G T intron_variant ESAD-UK 10 103417264 103417264 single base substitution G C intron_variant ESAD-UK 10 103418247 103418247 single base substitution A C intron_variant ESAD-UK 10 103420240 103420240 single base substitution A G intron_variant ESAD-UK 10 103424725 103424725 single base substitution G C intron_variant ESAD-UK 10 103429241 103429241 single base substitution C T downstream_gene_variant ESAD-UK 10 103429241 103429241 single base substitution C T intron_variant ESAD-UK 10 103429305 103429305 single base substitution C T downstream_gene_variant ESAD-UK 10 103429305 103429305 single base substitution C T intron_variant ESAD-UK 10 103430881 103430881 single base substitution A G downstream_gene_variant ESAD-UK 10 103430881 103430881 single base substitution A G intron_variant ESAD-UK 10 103434513 103434513 single base substitution G A intron_variant ESAD-UK 10 103434713 103434713 single base substitution C A intron_variant ESAD-UK 10 103434714 103434714 single base substitution A T intron_variant ESAD-UK 10 103435153 103435153 single base substitution A T intron_variant ESAD-UK 10 103436562 103436562 single base substitution A G intron_variant ESAD-UK 10 103436562 103436562 single base substitution A G upstream_gene_variant ESAD-UK 10 103436783 103436783 single base substitution C T intron_variant ESAD-UK 10 103436783 103436783 single base substitution C T upstream_gene_variant ESAD-UK 10 103442279 103442279 single base substitution T C intron_variant ESAD-UK 10 103444152 103444152 single base substitution G A intron_variant ESAD-UK 10 103447170 103447170 single base substitution G A intron_variant ESAD-UK 10 103450529 103450529 single base substitution G T intron_variant ESAD-UK 10 103451025 103451025 single base substitution C T intron_variant ESAD-UK 10 103453653 103453653 single base substitution C T intron_variant ESAD-UK 10 103455742 103455742 single base substitution C T upstream_gene_variant ESAD-UK 10 103457683 103457683 single base substitution G A upstream_gene_variant ESAD-UK 10 103459792 103459792 single base substitution G A upstream_gene_variant GACA-CN 10 103433292 103433292 single base substitution G A downstream_gene_variant GACA-CN 10 103433292 103433292 single base substitution G A exon_variant GACA-CN 10 103433292 103433292 single base substitution G A synonymous_variant D165D 495C>T LAML-KR 10 103457232 103457232 single base substitution G A upstream_gene_variant LAML-KR 10 103457414 103457414 single base substitution C T upstream_gene_variant LAML-KR 10 103457416 103457416 single base substitution C T upstream_gene_variant LGG-US 10 103433381 103433381 deletion of <=200bp C - exon_variant LGG-US 10 103433381 103433381 deletion of <=200bp C - frameshift_variant A136 LICA-FR 10 103382530 103382530 single base substitution G C downstream_gene_variant LICA-FR 10 103382530 103382530 single base substitution G C intron_variant LICA-FR 10 103393691 103393691 single base substitution T C intron_variant LICA-FR 10 103412725 103412725 single base substitution T C intron_variant LICA-FR 10 103424830 103424830 single base substitution T C intron_variant LICA-FR 10 103453494 103453494 single base substitution C T intron_variant LIHC-US 10 103371084 103371084 single base substitution A G downstream_gene_variant LIHC-US 10 103371084 103371084 single base substitution A G exon_variant LIHC-US 10 103371084 103371084 single base substitution A G synonymous_variant S401S 1203T>C LIHC-US 10 103436144 103436144 single base substitution T C exon_variant LIHC-US 10 103436144 103436144 single base substitution T C missense_variant R104G 310A>G LINC-JP 10 103372249 103372249 single base substitution A C intron_variant LINC-JP 10 103404076 103404076 single base substitution G A intron_variant LINC-JP 10 103408888 103408888 single base substitution T C intron_variant LINC-JP 10 103418790 103418790 single base substitution G A intron_variant LINC-JP 10 103422570 103422570 single base substitution T C intron_variant LINC-JP 10 103431904 103431904 single base substitution T C downstream_gene_variant LINC-JP 10 103431904 103431904 single base substitution T C intron_variant LINC-JP 10 103436203 103436203 single base substitution G C exon_variant LINC-JP 10 103436203 103436203 single base substitution G C intron_variant LINC-JP 10 103454539 103454539 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 10 103454539 103454539 single base substitution G A intron_variant LIRI-JP 10 103365973 103365973 single base substitution C T downstream_gene_variant LIRI-JP 10 103366829 103366829 single base substitution T C downstream_gene_variant LIRI-JP 10 103367738 103367738 single base substitution C A downstream_gene_variant LIRI-JP 10 103368282 103368282 single base substitution T C downstream_gene_variant LIRI-JP 10 103368625 103368625 single base substitution T C downstream_gene_variant LIRI-JP 10 103368831 103368831 single base substitution A C downstream_gene_variant LIRI-JP 10 103375673 103375673 single base substitution C T intron_variant LIRI-JP 10 103375673 103375673 single base substitution C T upstream_gene_variant LIRI-JP 10 103377966 103377966 single base substitution C A intron_variant LIRI-JP 10 103379409 103379409 single base substitution C A intron_variant LIRI-JP 10 103380236 103380236 single base substitution C T downstream_gene_variant LIRI-JP 10 103380236 103380236 single base substitution C T intron_variant LIRI-JP 10 103383409 103383409 single base substitution T C downstream_gene_variant LIRI-JP 10 103383409 103383409 single base substitution T C intron_variant LIRI-JP 10 103383610 103383610 single base substitution T C downstream_gene_variant LIRI-JP 10 103383610 103383610 single base substitution T C intron_variant LIRI-JP 10 103385572 103385572 single base substitution G C exon_variant LIRI-JP 10 103385572 103385572 single base substitution G C intron_variant LIRI-JP 10 103387604 103387604 single base substitution C T intron_variant LIRI-JP 10 103387604 103387604 single base substitution C T upstream_gene_variant LIRI-JP 10 103388241 103388241 single base substitution T C intron_variant LIRI-JP 10 103388241 103388241 single base substitution T C upstream_gene_variant LIRI-JP 10 103389231 103389231 single base substitution G T intron_variant LIRI-JP 10 103389231 103389231 single base substitution G T upstream_gene_variant LIRI-JP 10 103390037 103390037 single base substitution T C intron_variant LIRI-JP 10 103390037 103390037 single base substitution T C upstream_gene_variant LIRI-JP 10 103390422 103390422 single base substitution A G intron_variant LIRI-JP 10 103390422 103390422 single base substitution A G upstream_gene_variant LIRI-JP 10 103391746 103391746 single base substitution G C intron_variant LIRI-JP 10 103392973 103392973 single base substitution G T intron_variant LIRI-JP 10 103393236 103393236 single base substitution G T intron_variant LIRI-JP 10 103394287 103394287 single base substitution T C intron_variant LIRI-JP 10 103398852 103398852 single base substitution T A intron_variant LIRI-JP 10 103401410 103401410 deletion of <=200bp C - intron_variant LIRI-JP 10 103403366 103403366 single base substitution T G intron_variant LIRI-JP 10 103405957 103405965 deletion of <=200bp TCCCTATTC - intron_variant LIRI-JP 10 103407240 103407240 single base substitution T C intron_variant LIRI-JP 10 103409401 103409401 single base substitution G A intron_variant LIRI-JP 10 103409511 103409511 single base substitution G A intron_variant LIRI-JP 10 103413038 103413038 single base substitution T A intron_variant LIRI-JP 10 103413130 103413130 single base substitution C A intron_variant LIRI-JP 10 103416860 103416860 single base substitution G A intron_variant LIRI-JP 10 103421198 103421198 single base substitution C T intron_variant LIRI-JP 10 103421933 103421933 single base substitution G C intron_variant LIRI-JP 10 103422144 103422144 single base substitution T C intron_variant LIRI-JP 10 103424107 103424107 single base substitution T G intron_variant LIRI-JP 10 103427227 103427227 deletion of <=200bp T - intron_variant LIRI-JP 10 103427280 103427280 single base substitution G A intron_variant LIRI-JP 10 103427323 103427323 single base substitution T C intron_variant LIRI-JP 10 103427328 103427328 single base substitution C T intron_variant LIRI-JP 10 103429468 103429468 single base substitution C A downstream_gene_variant LIRI-JP 10 103429468 103429468 single base substitution C A intron_variant LIRI-JP 10 103430080 103430080 single base substitution T A downstream_gene_variant LIRI-JP 10 103430080 103430080 single base substitution T A intron_variant LIRI-JP 10 103432713 103432713 single base substitution C T downstream_gene_variant LIRI-JP 10 103432713 103432713 single base substitution C T exon_variant LIRI-JP 10 103432713 103432713 single base substitution C T missense_variant G212R 634G>A LIRI-JP 10 103433010 103433010 single base substitution T C downstream_gene_variant LIRI-JP 10 103433010 103433010 single base substitution T C intron_variant LIRI-JP 10 103433469 103433469 single base substitution T C intron_variant LIRI-JP 10 103435478 103435478 single base substitution G T intron_variant LIRI-JP 10 103437021 103437021 single base substitution C T intron_variant LIRI-JP 10 103437021 103437021 single base substitution C T upstream_gene_variant LIRI-JP 10 103437130 103437130 single base substitution T A intron_variant LIRI-JP 10 103437130 103437130 single base substitution T A upstream_gene_variant LIRI-JP 10 103437143 103437143 single base substitution C A intron_variant LIRI-JP 10 103437143 103437143 single base substitution C A upstream_gene_variant LIRI-JP 10 103437453 103437453 single base substitution G A intron_variant LIRI-JP 10 103437453 103437453 single base substitution G A upstream_gene_variant LIRI-JP 10 103438618 103438618 single base substitution G A intron_variant LIRI-JP 10 103438618 103438618 single base substitution G A upstream_gene_variant LIRI-JP 10 103439385 103439385 single base substitution A C intron_variant LIRI-JP 10 103439385 103439385 single base substitution A C upstream_gene_variant LIRI-JP 10 103440278 103440278 single base substitution T C intron_variant LIRI-JP 10 103440278 103440278 single base substitution T C upstream_gene_variant LIRI-JP 10 103440468 103440468 deletion of <=200bp T - intron_variant LIRI-JP 10 103440468 103440468 deletion of <=200bp T - upstream_gene_variant LIRI-JP 10 103444906 103444906 single base substitution T C intron_variant LIRI-JP 10 103449711 103449711 single base substitution C A intron_variant LIRI-JP 10 103449994 103449994 single base substitution T C intron_variant LIRI-JP 10 103450990 103450990 single base substitution T C intron_variant LIRI-JP 10 103452194 103452194 single base substitution T C intron_variant LIRI-JP 10 103457488 103457488 single base substitution A C upstream_gene_variant LIRI-JP 10 103458525 103458525 single base substitution C A upstream_gene_variant LIRI-JP 10 103458729 103458729 deletion of <=200bp T - upstream_gene_variant LUSC-KR 10 103372934 103372934 single base substitution G C intron_variant LUSC-KR 10 103372934 103372934 single base substitution G C upstream_gene_variant LUSC-KR 10 103390424 103390424 single base substitution C A intron_variant LUSC-KR 10 103390424 103390424 single base substitution C A upstream_gene_variant LUSC-KR 10 103408328 103408328 single base substitution G A intron_variant LUSC-KR 10 103408798 103408798 single base substitution C A intron_variant LUSC-KR 10 103424507 103424507 single base substitution T C intron_variant LUSC-KR 10 103428041 103428041 single base substitution G A intron_variant LUSC-KR 10 103429324 103429324 single base substitution C T downstream_gene_variant LUSC-KR 10 103429324 103429324 single base substitution C T intron_variant LUSC-KR 10 103429806 103429806 single base substitution C A downstream_gene_variant LUSC-KR 10 103429806 103429806 single base substitution C A intron_variant LUSC-KR 10 103431361 103431361 single base substitution G C downstream_gene_variant LUSC-KR 10 103431361 103431361 single base substitution G C intron_variant LUSC-KR 10 103436817 103436817 single base substitution T C intron_variant LUSC-KR 10 103436817 103436817 single base substitution T C upstream_gene_variant LUSC-KR 10 103437323 103437323 single base substitution T C intron_variant LUSC-KR 10 103437323 103437323 single base substitution T C upstream_gene_variant LUSC-KR 10 103437773 103437773 single base substitution T C intron_variant LUSC-KR 10 103437773 103437773 single base substitution T C upstream_gene_variant LUSC-KR 10 103451153 103451153 single base substitution C T intron_variant LUSC-KR 10 103455019 103455019 single base substitution G T exon_variant LUSC-KR 10 103455019 103455019 single base substitution G T upstream_gene_variant LUSC-KR 10 103458001 103458001 single base substitution G A upstream_gene_variant LUSC-KR 10 103458209 103458209 single base substitution G A upstream_gene_variant MALY-DE 10 103372437 103372437 single base substitution A C intron_variant MALY-DE 10 103372442 103372442 single base substitution T C intron_variant MALY-DE 10 103372581 103372582 deletion of <=200bp CA - intron_variant MALY-DE 10 103375519 103375519 single base substitution C G intron_variant MALY-DE 10 103375519 103375519 single base substitution C G upstream_gene_variant MALY-DE 10 103402154 103402154 single base substitution T A intron_variant MALY-DE 10 103402156 103402156 single base substitution A T intron_variant MALY-DE 10 103402158 103402158 single base substitution T A intron_variant MALY-DE 10 103403290 103403290 single base substitution T G intron_variant MALY-DE 10 103403300 103403300 single base substitution C G intron_variant MALY-DE 10 103415153 103415153 single base substitution T G intron_variant MALY-DE 10 103415615 103415615 single base substitution G A intron_variant MALY-DE 10 103419504 103419504 single base substitution A G intron_variant MALY-DE 10 103419542 103419542 single base substitution A T intron_variant MALY-DE 10 103433679 103433679 single base substitution C G intron_variant MALY-DE 10 103441146 103441146 deletion of <=200bp A - intron_variant MALY-DE 10 103441146 103441146 deletion of <=200bp A - upstream_gene_variant MALY-DE 10 103441158 103441158 single base substitution T A intron_variant MALY-DE 10 103441158 103441158 single base substitution T A upstream_gene_variant MALY-DE 10 103454358 103454360 deletion of <=200bp CCT - disruptive_inframe_deletion EA13A MALY-DE 10 103454358 103454360 deletion of <=200bp CCT - intron_variant MALY-DE 10 103456874 103456874 insertion of <=200bp - T upstream_gene_variant MALY-DE 10 103457504 103457524 deletion of <=200bp CATCATTAAAGCGGCCGGGCG - upstream_gene_variant MALY-DE 10 103458393 103458393 single base substitution A G upstream_gene_variant MELA-AU 10 103366562 103366562 single base substitution C A downstream_gene_variant MELA-AU 10 103366811 103366811 single base substitution C T downstream_gene_variant MELA-AU 10 103367100 103367100 single base substitution A T downstream_gene_variant MELA-AU 10 103367786 103367786 single base substitution T A downstream_gene_variant MELA-AU 10 103369042 103369042 single base substitution G A downstream_gene_variant MELA-AU 10 103369148 103369148 single base substitution G T downstream_gene_variant MELA-AU 10 103371831 103371831 single base substitution G A intron_variant MELA-AU 10 103372026 103372026 single base substitution G A intron_variant MELA-AU 10 103372372 103372372 single base substitution G A intron_variant MELA-AU 10 103374951 103374951 single base substitution G A intron_variant MELA-AU 10 103374951 103374951 single base substitution G A upstream_gene_variant MELA-AU 10 103375023 103375023 single base substitution G A intron_variant MELA-AU 10 103375023 103375023 single base substitution G A upstream_gene_variant MELA-AU 10 103375201 103375201 single base substitution T C intron_variant MELA-AU 10 103375201 103375201 single base substitution T C upstream_gene_variant MELA-AU 10 103375260 103375260 single base substitution G A intron_variant MELA-AU 10 103375260 103375260 single base substitution G A upstream_gene_variant MELA-AU 10 103375447 103375447 single base substitution G A intron_variant MELA-AU 10 103375447 103375447 single base substitution G A upstream_gene_variant MELA-AU 10 103375916 103375916 single base substitution A G intron_variant MELA-AU 10 103375916 103375916 single base substitution A G upstream_gene_variant MELA-AU 10 103378299 103378299 single base substitution G A intron_variant MELA-AU 10 103378428 103378428 single base substitution G A intron_variant MELA-AU 10 103378510 103378510 single base substitution G A intron_variant MELA-AU 10 103379048 103379048 single base substitution G A intron_variant MELA-AU 10 103379191 103379191 single base substitution G A intron_variant MELA-AU 10 103379575 103379575 single base substitution C T downstream_gene_variant MELA-AU 10 103379575 103379575 single base substitution C T intron_variant MELA-AU 10 103379666 103379666 single base substitution G A downstream_gene_variant MELA-AU 10 103379666 103379666 single base substitution G A intron_variant MELA-AU 10 103380026 103380026 single base substitution C T downstream_gene_variant MELA-AU 10 103380026 103380026 single base substitution C T intron_variant MELA-AU 10 103380666 103380667 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 10 103380666 103380667 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 103380793 103380793 single base substitution G A downstream_gene_variant MELA-AU 10 103380793 103380793 single base substitution G A intron_variant MELA-AU 10 103380911 103380911 single base substitution G A downstream_gene_variant MELA-AU 10 103380911 103380911 single base substitution G A intron_variant MELA-AU 10 103381605 103381605 single base substitution G A downstream_gene_variant MELA-AU 10 103381605 103381605 single base substitution G A intron_variant MELA-AU 10 103381685 103381685 single base substitution G A downstream_gene_variant MELA-AU 10 103381685 103381685 single base substitution G A intron_variant MELA-AU 10 103381716 103381716 single base substitution G A downstream_gene_variant MELA-AU 10 103381716 103381716 single base substitution G A intron_variant MELA-AU 10 103383552 103383552 single base substitution G A downstream_gene_variant MELA-AU 10 103383552 103383552 single base substitution G A intron_variant MELA-AU 10 103383575 103383575 single base substitution G A downstream_gene_variant MELA-AU 10 103383575 103383575 single base substitution G A intron_variant MELA-AU 10 103384638 103384638 single base substitution G A exon_variant MELA-AU 10 103384638 103384638 single base substitution G A intron_variant MELA-AU 10 103384745 103384745 single base substitution G A exon_variant MELA-AU 10 103384745 103384745 single base substitution G A intron_variant MELA-AU 10 103385260 103385260 single base substitution G A exon_variant MELA-AU 10 103385260 103385260 single base substitution G A intron_variant MELA-AU 10 103385708 103385708 single base substitution G A exon_variant MELA-AU 10 103385708 103385708 single base substitution G A intron_variant MELA-AU 10 103385717 103385717 single base substitution G A exon_variant MELA-AU 10 103385717 103385717 single base substitution G A intron_variant MELA-AU 10 103387423 103387423 single base substitution G A intron_variant MELA-AU 10 103387423 103387423 single base substitution G A upstream_gene_variant MELA-AU 10 103388126 103388126 single base substitution C T intron_variant MELA-AU 10 103388126 103388126 single base substitution C T upstream_gene_variant MELA-AU 10 103388369 103388369 single base substitution G A intron_variant MELA-AU 10 103388369 103388369 single base substitution G A upstream_gene_variant MELA-AU 10 103388775 103388775 single base substitution G A intron_variant MELA-AU 10 103388775 103388775 single base substitution G A upstream_gene_variant MELA-AU 10 103388863 103388863 single base substitution G A intron_variant MELA-AU 10 103388863 103388863 single base substitution G A upstream_gene_variant MELA-AU 10 103389261 103389261 single base substitution G A intron_variant MELA-AU 10 103389261 103389261 single base substitution G A upstream_gene_variant MELA-AU 10 103389381 103389381 single base substitution G A intron_variant MELA-AU 10 103389381 103389381 single base substitution G A upstream_gene_variant MELA-AU 10 103390240 103390240 single base substitution G A intron_variant MELA-AU 10 103390240 103390240 single base substitution G A upstream_gene_variant MELA-AU 10 103391821 103391821 single base substitution A G intron_variant MELA-AU 10 103391875 103391875 single base substitution G A intron_variant MELA-AU 10 103392051 103392051 single base substitution C T intron_variant MELA-AU 10 103393966 103393966 single base substitution A G intron_variant MELA-AU 10 103394554 103394554 single base substitution A C intron_variant MELA-AU 10 103395847 103395847 single base substitution C T intron_variant MELA-AU 10 103396322 103396322 single base substitution G A intron_variant MELA-AU 10 103396367 103396367 single base substitution G A intron_variant MELA-AU 10 103396480 103396480 single base substitution G A intron_variant MELA-AU 10 103397042 103397042 single base substitution G A intron_variant MELA-AU 10 103397849 103397849 single base substitution G A intron_variant MELA-AU 10 103398087 103398087 single base substitution G A intron_variant MELA-AU 10 103398279 103398279 single base substitution G A intron_variant MELA-AU 10 103398788 103398788 single base substitution G A intron_variant MELA-AU 10 103399350 103399350 single base substitution T C intron_variant MELA-AU 10 103399979 103399979 single base substitution G A intron_variant MELA-AU 10 103400058 103400058 single base substitution G A intron_variant MELA-AU 10 103400080 103400080 single base substitution G A intron_variant MELA-AU 10 103401102 103401102 single base substitution G A intron_variant MELA-AU 10 103401253 103401253 single base substitution G A intron_variant MELA-AU 10 103401406 103401406 single base substitution T A intron_variant MELA-AU 10 103401475 103401475 single base substitution G A intron_variant MELA-AU 10 103401721 103401721 single base substitution T C intron_variant MELA-AU 10 103402154 103402154 single base substitution T A intron_variant MELA-AU 10 103402156 103402156 single base substitution A T intron_variant MELA-AU 10 103402158 103402158 single base substitution T A intron_variant MELA-AU 10 103403351 103403351 single base substitution G A intron_variant MELA-AU 10 103403590 103403590 single base substitution G A intron_variant MELA-AU 10 103403662 103403662 single base substitution G A intron_variant MELA-AU 10 103403752 103403752 single base substitution G A intron_variant MELA-AU 10 103404170 103404171 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 103404557 103404557 single base substitution G A intron_variant MELA-AU 10 103404695 103404696 deletion of <=200bp TG - intron_variant MELA-AU 10 103405269 103405270 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 103406036 103406036 single base substitution G A intron_variant MELA-AU 10 103406189 103406189 single base substitution G A intron_variant MELA-AU 10 103406642 103406642 single base substitution C T intron_variant MELA-AU 10 103407108 103407109 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 103407964 103407964 single base substitution T C intron_variant MELA-AU 10 103409013 103409013 single base substitution G A intron_variant MELA-AU 10 103409218 103409218 single base substitution A G intron_variant MELA-AU 10 103409771 103409771 single base substitution C T intron_variant MELA-AU 10 103409983 103409983 single base substitution G A intron_variant MELA-AU 10 103410708 103410708 single base substitution G A intron_variant MELA-AU 10 103410710 103410710 single base substitution G A intron_variant MELA-AU 10 103410772 103410772 single base substitution G A intron_variant MELA-AU 10 103411366 103411367 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 103411398 103411399 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 103411767 103411767 single base substitution G A intron_variant MELA-AU 10 103412502 103412502 single base substitution G A intron_variant MELA-AU 10 103412799 103412799 single base substitution G A intron_variant MELA-AU 10 103413854 103413854 single base substitution G A intron_variant MELA-AU 10 103414040 103414040 single base substitution C T intron_variant MELA-AU 10 103414599 103414599 single base substitution G A intron_variant MELA-AU 10 103415600 103415600 single base substitution A C intron_variant MELA-AU 10 103416069 103416069 single base substitution G A intron_variant MELA-AU 10 103417384 103417384 single base substitution G A intron_variant MELA-AU 10 103417531 103417531 single base substitution G A intron_variant MELA-AU 10 103417734 103417734 single base substitution G A intron_variant MELA-AU 10 103417963 103417963 single base substitution G A intron_variant MELA-AU 10 103418608 103418608 single base substitution G T intron_variant MELA-AU 10 103418655 103418655 single base substitution G A intron_variant MELA-AU 10 103419718 103419718 single base substitution G A intron_variant MELA-AU 10 103420356 103420356 single base substitution G A intron_variant MELA-AU 10 103420933 103420933 single base substitution G A intron_variant MELA-AU 10 103421731 103421731 single base substitution G A intron_variant MELA-AU 10 103421812 103421812 single base substitution G A intron_variant MELA-AU 10 103421820 103421820 single base substitution G A intron_variant MELA-AU 10 103422113 103422113 single base substitution G A intron_variant MELA-AU 10 103422472 103422472 single base substitution G A intron_variant MELA-AU 10 103422847 103422847 single base substitution G A intron_variant MELA-AU 10 103423051 103423052 deletion of <=200bp AG - intron_variant MELA-AU 10 103423197 103423197 single base substitution C T intron_variant MELA-AU 10 103423637 103423637 single base substitution G A intron_variant MELA-AU 10 103423728 103423728 single base substitution A G intron_variant MELA-AU 10 103423733 103423733 single base substitution C T intron_variant MELA-AU 10 103423907 103423907 single base substitution C T intron_variant MELA-AU 10 103424063 103424063 single base substitution T A intron_variant MELA-AU 10 103424367 103424367 single base substitution C T intron_variant MELA-AU 10 103424748 103424748 single base substitution G A intron_variant MELA-AU 10 103426215 103426215 single base substitution G A intron_variant MELA-AU 10 103426496 103426496 single base substitution G A intron_variant MELA-AU 10 103426641 103426641 single base substitution C T intron_variant MELA-AU 10 103427075 103427075 single base substitution G A intron_variant MELA-AU 10 103427352 103427352 single base substitution G A intron_variant MELA-AU 10 103427827 103427827 single base substitution G A intron_variant MELA-AU 10 103428294 103428295 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 103428329 103428329 single base substitution T C downstream_gene_variant MELA-AU 10 103428329 103428329 single base substitution T C intron_variant MELA-AU 10 103429167 103429167 single base substitution G A downstream_gene_variant MELA-AU 10 103429167 103429167 single base substitution G A intron_variant MELA-AU 10 103429312 103429312 single base substitution G A downstream_gene_variant MELA-AU 10 103429312 103429312 single base substitution G A intron_variant MELA-AU 10 103430626 103430626 single base substitution G A downstream_gene_variant MELA-AU 10 103430626 103430626 single base substitution G A intron_variant MELA-AU 10 103430639 103430639 single base substitution G A downstream_gene_variant MELA-AU 10 103430639 103430639 single base substitution G A intron_variant MELA-AU 10 103431239 103431240 multiple base substitution (>=2bp and <=200bp) CA AC downstream_gene_variant MELA-AU 10 103431239 103431240 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 10 103431499 103431500 multiple base substitution (>=2bp and <=200bp) GT TG downstream_gene_variant MELA-AU 10 103431499 103431500 multiple base substitution (>=2bp and <=200bp) GT TG intron_variant MELA-AU 10 103431877 103431877 single base substitution G A downstream_gene_variant MELA-AU 10 103431877 103431877 single base substitution G A intron_variant MELA-AU 10 103432578 103432578 single base substitution G A downstream_gene_variant MELA-AU 10 103432578 103432578 single base substitution G A intron_variant MELA-AU 10 103432820 103432820 single base substitution G A downstream_gene_variant MELA-AU 10 103432820 103432820 single base substitution G A intron_variant MELA-AU 10 103433020 103433020 single base substitution G C downstream_gene_variant MELA-AU 10 103433020 103433020 single base substitution G C intron_variant MELA-AU 10 103433477 103433477 single base substitution G A intron_variant MELA-AU 10 103434825 103434825 single base substitution G A intron_variant MELA-AU 10 103436180 103436180 single base substitution G A exon_variant MELA-AU 10 103436180 103436180 single base substitution G A missense_variant P92S 274C>T MELA-AU 10 103436454 103436454 single base substitution G A exon_variant MELA-AU 10 103436454 103436454 single base substitution G A intron_variant MELA-AU 10 103436618 103436618 single base substitution G A intron_variant MELA-AU 10 103436618 103436618 single base substitution G A upstream_gene_variant MELA-AU 10 103436683 103436683 single base substitution G A intron_variant MELA-AU 10 103436683 103436683 single base substitution G A upstream_gene_variant MELA-AU 10 103437025 103437026 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 103437025 103437026 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 10 103437182 103437182 single base substitution G T intron_variant MELA-AU 10 103437182 103437182 single base substitution G T upstream_gene_variant MELA-AU 10 103437524 103437524 single base substitution C A intron_variant MELA-AU 10 103437524 103437524 single base substitution C A upstream_gene_variant MELA-AU 10 103438050 103438050 single base substitution G A intron_variant MELA-AU 10 103438050 103438050 single base substitution G A upstream_gene_variant MELA-AU 10 103438317 103438318 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 103438317 103438318 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 103439212 103439212 single base substitution G A intron_variant MELA-AU 10 103439212 103439212 single base substitution G A upstream_gene_variant MELA-AU 10 103439387 103439387 single base substitution G A intron_variant MELA-AU 10 103439387 103439387 single base substitution G A upstream_gene_variant MELA-AU 10 103439388 103439388 single base substitution G A intron_variant MELA-AU 10 103439388 103439388 single base substitution G A upstream_gene_variant MELA-AU 10 103440521 103440521 single base substitution A G intron_variant MELA-AU 10 103440521 103440521 single base substitution A G upstream_gene_variant MELA-AU 10 103443614 103443614 single base substitution G A intron_variant MELA-AU 10 103444069 103444069 single base substitution G A intron_variant MELA-AU 10 103446097 103446097 single base substitution G A intron_variant MELA-AU 10 103446769 103446769 single base substitution G A intron_variant MELA-AU 10 103447687 103447687 single base substitution G A intron_variant MELA-AU 10 103447984 103447984 single base substitution A G intron_variant MELA-AU 10 103448168 103448168 single base substitution G A intron_variant MELA-AU 10 103448432 103448432 single base substitution G A intron_variant MELA-AU 10 103449027 103449027 single base substitution G A intron_variant MELA-AU 10 103449221 103449221 single base substitution T C intron_variant MELA-AU 10 103449308 103449308 single base substitution A T intron_variant MELA-AU 10 103452726 103452726 single base substitution G C intron_variant MELA-AU 10 103453894 103453894 single base substitution G A intron_variant MELA-AU 10 103455494 103455494 single base substitution C T upstream_gene_variant MELA-AU 10 103456519 103456519 single base substitution C T upstream_gene_variant MELA-AU 10 103457253 103457253 single base substitution C T upstream_gene_variant MELA-AU 10 103457258 103457258 single base substitution T G upstream_gene_variant MELA-AU 10 103457263 103457263 single base substitution G A upstream_gene_variant MELA-AU 10 103457403 103457403 single base substitution C T upstream_gene_variant MELA-AU 10 103457519 103457519 single base substitution C T upstream_gene_variant MELA-AU 10 103457816 103457816 single base substitution C T upstream_gene_variant MELA-AU 10 103458100 103458100 single base substitution C T upstream_gene_variant MELA-AU 10 103459864 103459864 single base substitution C T upstream_gene_variant MELA-AU 10 103460009 103460009 single base substitution G A upstream_gene_variant ORCA-IN 10 103371392 103371392 single base substitution C A downstream_gene_variant ORCA-IN 10 103371392 103371392 single base substitution C A exon_variant ORCA-IN 10 103371392 103371392 single base substitution C A missense_variant C371F 1112G>T ORCA-IN 10 103377885 103377885 single base substitution G C intron_variant ORCA-IN 10 103377885 103377885 single base substitution G C upstream_gene_variant ORCA-IN 10 103402841 103402841 single base substitution C G intron_variant ORCA-IN 10 103410624 103410624 single base substitution C A intron_variant OV-AU 10 103375335 103375335 single base substitution C G intron_variant OV-AU 10 103375335 103375335 single base substitution C G upstream_gene_variant OV-AU 10 103375888 103375888 single base substitution C T intron_variant OV-AU 10 103375888 103375888 single base substitution C T upstream_gene_variant OV-AU 10 103377591 103377591 single base substitution A C intron_variant OV-AU 10 103377591 103377591 single base substitution A C upstream_gene_variant OV-AU 10 103384240 103384240 single base substitution G T downstream_gene_variant OV-AU 10 103384240 103384240 single base substitution G T intron_variant OV-AU 10 103385991 103385991 single base substitution C A exon_variant OV-AU 10 103385991 103385991 single base substitution C A intron_variant OV-AU 10 103386106 103386106 single base substitution T C exon_variant OV-AU 10 103386106 103386106 single base substitution T C intron_variant OV-AU 10 103395901 103395901 single base substitution G A intron_variant OV-AU 10 103400087 103400087 single base substitution G A intron_variant OV-AU 10 103409841 103409841 single base substitution A G intron_variant OV-AU 10 103416099 103416099 single base substitution T G intron_variant OV-AU 10 103424118 103424118 single base substitution G A intron_variant OV-AU 10 103429794 103429794 single base substitution G C downstream_gene_variant OV-AU 10 103429794 103429794 single base substitution G C intron_variant OV-AU 10 103431240 103431240 single base substitution A G downstream_gene_variant OV-AU 10 103431240 103431240 single base substitution A G intron_variant OV-AU 10 103431835 103431835 single base substitution G C downstream_gene_variant OV-AU 10 103431835 103431835 single base substitution G C intron_variant OV-AU 10 103450741 103450741 single base substitution T G intron_variant OV-AU 10 103454121 103454121 single base substitution G T intron_variant OV-AU 10 103456689 103456689 single base substitution G A upstream_gene_variant OV-AU 10 103459524 103459524 single base substitution A G upstream_gene_variant PACA-AU 10 103369008 103369008 single base substitution A G downstream_gene_variant PACA-AU 10 103369233 103369233 single base substitution C T downstream_gene_variant PACA-AU 10 103369267 103369267 single base substitution C T downstream_gene_variant PACA-AU 10 103376552 103376552 single base substitution G C intron_variant PACA-AU 10 103376552 103376552 single base substitution G C upstream_gene_variant PACA-AU 10 103377969 103377969 single base substitution G A intron_variant PACA-AU 10 103380187 103380187 single base substitution C A downstream_gene_variant PACA-AU 10 103380187 103380187 single base substitution C A intron_variant PACA-AU 10 103383645 103383645 single base substitution G C downstream_gene_variant PACA-AU 10 103383645 103383645 single base substitution G C intron_variant PACA-AU 10 103383693 103383693 single base substitution G A downstream_gene_variant PACA-AU 10 103383693 103383693 single base substitution G A intron_variant PACA-AU 10 103384647 103384647 single base substitution T G exon_variant PACA-AU 10 103384647 103384647 single base substitution T G intron_variant PACA-AU 10 103387570 103387570 single base substitution T C intron_variant PACA-AU 10 103387570 103387570 single base substitution T C upstream_gene_variant PACA-AU 10 103392629 103392629 single base substitution G T intron_variant PACA-AU 10 103396360 103396360 single base substitution T A intron_variant PACA-AU 10 103399385 103399385 single base substitution C T intron_variant PACA-AU 10 103399623 103399623 single base substitution T C intron_variant PACA-AU 10 103403589 103403589 single base substitution G A intron_variant PACA-AU 10 103403687 103403688 deletion of <=200bp AC - intron_variant PACA-AU 10 103405899 103405899 single base substitution G T intron_variant PACA-AU 10 103407468 103407468 single base substitution G A intron_variant PACA-AU 10 103411978 103411978 single base substitution A T intron_variant PACA-AU 10 103412984 103412984 single base substitution G A intron_variant PACA-AU 10 103413661 103413661 single base substitution C T intron_variant PACA-AU 10 103415412 103415412 single base substitution T A intron_variant PACA-AU 10 103416828 103416847 deletion of <=200bp CCCTCCTCCCTCCAATCCTC - intron_variant PACA-AU 10 103425922 103425922 single base substitution T G intron_variant PACA-AU 10 103426848 103426848 single base substitution C T intron_variant PACA-AU 10 103437348 103437348 single base substitution G A intron_variant PACA-AU 10 103437348 103437348 single base substitution G A upstream_gene_variant PACA-AU 10 103438234 103438234 single base substitution G C intron_variant PACA-AU 10 103438234 103438234 single base substitution G C upstream_gene_variant PACA-AU 10 103439480 103439480 deletion of <=200bp T - intron_variant PACA-AU 10 103439480 103439480 deletion of <=200bp T - upstream_gene_variant PACA-AU 10 103441507 103441507 single base substitution A G intron_variant PACA-AU 10 103442779 103442779 single base substitution T A intron_variant PACA-AU 10 103457557 103457557 single base substitution G A upstream_gene_variant PACA-CA 10 103365469 103365469 single base substitution C T downstream_gene_variant PACA-CA 10 103369268 103369268 single base substitution G A downstream_gene_variant PACA-CA 10 103370822 103370822 single base substitution G C 3_prime_UTR_variant PACA-CA 10 103370822 103370822 single base substitution G C downstream_gene_variant PACA-CA 10 103370822 103370822 single base substitution G C exon_variant PACA-CA 10 103374416 103374416 single base substitution A G intron_variant PACA-CA 10 103374416 103374416 single base substitution A G upstream_gene_variant PACA-CA 10 103387317 103387317 single base substitution G A intron_variant PACA-CA 10 103387317 103387317 single base substitution G A upstream_gene_variant PACA-CA 10 103390652 103390652 single base substitution G T intron_variant PACA-CA 10 103390652 103390652 single base substitution G T upstream_gene_variant PACA-CA 10 103391369 103391369 insertion of <=200bp - A intron_variant PACA-CA 10 103391369 103391369 insertion of <=200bp - A upstream_gene_variant PACA-CA 10 103391820 103391820 single base substitution A G intron_variant PACA-CA 10 103392146 103392146 single base substitution G A intron_variant PACA-CA 10 103396628 103396628 single base substitution G A intron_variant PACA-CA 10 103400388 103400388 single base substitution A G intron_variant PACA-CA 10 103401575 103401575 single base substitution A G intron_variant PACA-CA 10 103402640 103402640 single base substitution G A intron_variant PACA-CA 10 103408616 103408616 single base substitution G A intron_variant PACA-CA 10 103408830 103408830 single base substitution G A intron_variant PACA-CA 10 103409406 103409406 single base substitution T C intron_variant PACA-CA 10 103410757 103410757 single base substitution C T intron_variant PACA-CA 10 103410936 103410936 single base substitution C G intron_variant PACA-CA 10 103413126 103413126 single base substitution T C intron_variant PACA-CA 10 103414380 103414380 single base substitution G C intron_variant PACA-CA 10 103419781 103419781 single base substitution G C intron_variant PACA-CA 10 103422767 103422767 single base substitution C T intron_variant PACA-CA 10 103423247 103423247 deletion of <=200bp T - intron_variant PACA-CA 10 103424566 103424566 single base substitution G A intron_variant PACA-CA 10 103429300 103429300 single base substitution A G downstream_gene_variant PACA-CA 10 103429300 103429300 single base substitution A G intron_variant PACA-CA 10 103433917 103433917 single base substitution T C intron_variant PACA-CA 10 103434950 103434950 single base substitution G A intron_variant PACA-CA 10 103439720 103439720 single base substitution C T intron_variant PACA-CA 10 103439720 103439720 single base substitution C T upstream_gene_variant PACA-CA 10 103446284 103446284 single base substitution G T intron_variant PACA-CA 10 103447172 103447172 single base substitution G A intron_variant PACA-CA 10 103456398 103456400 deletion of <=200bp ACG - upstream_gene_variant PAEN-AU 10 103441352 103441352 single base substitution T C intron_variant PAEN-AU 10 103441352 103441352 single base substitution T C upstream_gene_variant PAEN-AU 10 103442344 103442344 single base substitution G A intron_variant PAEN-IT 10 103372975 103372975 single base substitution C T intron_variant PAEN-IT 10 103372975 103372975 single base substitution C T upstream_gene_variant PAEN-IT 10 103382854 103382854 single base substitution C G downstream_gene_variant PAEN-IT 10 103382854 103382854 single base substitution C G intron_variant PBCA-DE 10 103372581 103372582 deletion of <=200bp CA - intron_variant PBCA-DE 10 103379197 103379197 single base substitution C T intron_variant PBCA-DE 10 103383849 103383850 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 10 103383849 103383850 deletion of <=200bp AC - intron_variant PBCA-DE 10 103386257 103386257 deletion of <=200bp T - exon_variant PBCA-DE 10 103386257 103386257 deletion of <=200bp T - intron_variant PBCA-DE 10 103393674 103393674 single base substitution C T intron_variant PBCA-DE 10 103401406 103401406 single base substitution T A intron_variant PBCA-DE 10 103405961 103405961 single base substitution T C intron_variant PBCA-DE 10 103410110 103410110 single base substitution C A intron_variant PBCA-DE 10 103420088 103420088 single base substitution A G intron_variant PBCA-DE 10 103432037 103432037 single base substitution C A downstream_gene_variant PBCA-DE 10 103432037 103432037 single base substitution C A intron_variant PBCA-DE 10 103451529 103451529 single base substitution A C intron_variant PBCA-DE 10 103457504 103457524 deletion of <=200bp CATCATTAAAGCGGCCGGGCG - upstream_gene_variant PRAD-CA 10 103383374 103383374 single base substitution A C downstream_gene_variant PRAD-CA 10 103383374 103383374 single base substitution A C intron_variant PRAD-CA 10 103389547 103389547 single base substitution G C intron_variant PRAD-CA 10 103389547 103389547 single base substitution G C upstream_gene_variant PRAD-CA 10 103407275 103407275 single base substitution G T intron_variant PRAD-CA 10 103418880 103418880 single base substitution G A intron_variant PRAD-UK 10 103381684 103381684 single base substitution G C downstream_gene_variant PRAD-UK 10 103381684 103381684 single base substitution G C intron_variant PRAD-UK 10 103396989 103397029 multiple base substitution (>=2bp and <=200bp) AAAAAAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAG ATTAGCCAGGTGTGGTGGTGCATGCCTGTAA intron_variant PRAD-UK 10 103401610 103401610 single base substitution T C intron_variant PRAD-UK 10 103418574 103418574 single base substitution T C intron_variant PRAD-UK 10 103420529 103420529 single base substitution G C intron_variant PRAD-UK 10 103425811 103425811 single base substitution C T intron_variant PRAD-UK 10 103437718 103437718 single base substitution A G intron_variant PRAD-UK 10 103437718 103437718 single base substitution A G upstream_gene_variant RECA-EU 10 103377682 103377682 single base substitution C A intron_variant RECA-EU 10 103377682 103377682 single base substitution C A upstream_gene_variant RECA-EU 10 103392800 103392800 single base substitution G C intron_variant RECA-EU 10 103395939 103395939 single base substitution T G intron_variant RECA-EU 10 103406574 103406574 single base substitution A C intron_variant RECA-EU 10 103428870 103428870 single base substitution G T downstream_gene_variant RECA-EU 10 103428870 103428870 single base substitution G T intron_variant RECA-EU 10 103436936 103436936 single base substitution G A intron_variant RECA-EU 10 103436936 103436936 single base substitution G A upstream_gene_variant RECA-EU 10 103445272 103445272 single base substitution T A intron_variant RECA-EU 10 103451724 103451724 single base substitution G A intron_variant SKCA-BR 10 103365548 103365548 single base substitution G T downstream_gene_variant SKCA-BR 10 103372442 103372442 single base substitution T C intron_variant SKCA-BR 10 103372700 103372700 single base substitution G A intron_variant SKCA-BR 10 103375802 103375802 single base substitution G A intron_variant SKCA-BR 10 103375802 103375802 single base substitution G A upstream_gene_variant SKCA-BR 10 103380294 103380294 single base substitution A C downstream_gene_variant SKCA-BR 10 103380294 103380294 single base substitution A C intron_variant SKCA-BR 10 103381912 103381912 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 10 103381912 103381912 insertion of <=200bp - CA intron_variant SKCA-BR 10 103403543 103403543 single base substitution G A intron_variant SKCA-BR 10 103418485 103418485 single base substitution T C intron_variant SKCA-BR 10 103419717 103419717 single base substitution A G intron_variant SKCA-BR 10 103420229 103420229 single base substitution A C intron_variant SKCA-BR 10 103425005 103425005 single base substitution C G intron_variant SKCA-BR 10 103429243 103429243 single base substitution G A downstream_gene_variant SKCA-BR 10 103429243 103429243 single base substitution G A intron_variant SKCA-BR 10 103429516 103429516 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 10 103429516 103429516 insertion of <=200bp - CT intron_variant SKCA-BR 10 103432454 103432454 single base substitution T C downstream_gene_variant SKCA-BR 10 103432454 103432454 single base substitution T C intron_variant SKCA-BR 10 103434083 103434083 insertion of <=200bp - CA intron_variant SKCA-BR 10 103435249 103435261 deletion of <=200bp CTTTCTCTCCTGT - intron_variant SKCA-BR 10 103441152 103441152 insertion of <=200bp - AAT intron_variant SKCA-BR 10 103441152 103441152 insertion of <=200bp - AAT upstream_gene_variant SKCA-BR 10 103442853 103442853 single base substitution G A intron_variant SKCA-BR 10 103457399 103457399 single base substitution A C upstream_gene_variant SKCA-BR 10 103457496 103457496 single base substitution T G upstream_gene_variant SKCA-BR 10 103458080 103458080 single base substitution C T upstream_gene_variant SKCM-US 10 103371486 103371486 single base substitution G A exon_variant SKCM-US 10 103371486 103371486 single base substitution G A synonymous_variant L340L 1018C>T SKCM-US 10 103433321 103433321 single base substitution G A downstream_gene_variant SKCM-US 10 103433321 103433321 single base substitution G A exon_variant SKCM-US 10 103433321 103433321 single base substitution G A synonymous_variant L156L 466C>T SKCM-US 10 103433355 103433355 single base substitution G A exon_variant SKCM-US 10 103433355 103433355 single base substitution G A synonymous_variant F144F 432C>T SKCM-US 10 103433373 103433373 single base substitution G A exon_variant SKCM-US 10 103433373 103433373 single base substitution G A synonymous_variant F138F 414C>T STAD-US 10 103371071 103371071 single base substitution C T downstream_gene_variant STAD-US 10 103371071 103371071 single base substitution C T exon_variant STAD-US 10 103371071 103371071 single base substitution C T missense_variant V406I 1216G>A STAD-US 10 103371080 103371080 single base substitution T A downstream_gene_variant STAD-US 10 103371080 103371080 single base substitution T A exon_variant STAD-US 10 103371080 103371080 single base substitution T A missense_variant N403Y 1207A>T STAD-US 10 103371117 103371117 single base substitution A G downstream_gene_variant STAD-US 10 103371117 103371117 single base substitution A G exon_variant STAD-US 10 103371117 103371117 single base substitution A G synonymous_variant R390R 1170T>C STAD-US 10 103371152 103371152 single base substitution A T downstream_gene_variant STAD-US 10 103371152 103371152 single base substitution A T exon_variant STAD-US 10 103371152 103371152 single base substitution A T missense_variant S379T 1135T>A STAD-US 10 103372106 103372106 single base substitution C T exon_variant STAD-US 10 103372106 103372106 single base substitution C T missense_variant R322H 965G>A STAD-US 10 103432772 103432772 single base substitution C T downstream_gene_variant STAD-US 10 103432772 103432772 single base substitution C T exon_variant STAD-US 10 103432772 103432772 single base substitution C T missense_variant S192N 575G>A STAD-US 10 103436163 103436163 single base substitution C T exon_variant STAD-US 10 103436163 103436163 single base substitution C T synonymous_variant V97V 291G>A UCEC-US 10 103371150 103371150 single base substitution C T downstream_gene_variant UCEC-US 10 103371150 103371150 single base substitution C T exon_variant UCEC-US 10 103371150 103371150 single base substitution C T synonymous_variant S379S 1137G>A UCEC-US 10 103371165 103371165 single base substitution G T downstream_gene_variant UCEC-US 10 103371165 103371165 single base substitution G T splice_region_variant UCEC-US 10 103372106 103372106 single base substitution C T exon_variant UCEC-US 10 103372106 103372106 single base substitution C T missense_variant R322H 965G>A UCEC-US 10 103372159 103372159 single base substitution A G exon_variant UCEC-US 10 103372159 103372159 single base substitution A G synonymous_variant P304P 912T>C UCEC-US 10 103427724 103427724 single base substitution G A exon_variant UCEC-US 10 103427724 103427724 single base substitution G A missense_variant A230V 689C>T UCEC-US 10 103433325 103433325 single base substitution C T exon_variant UCEC-US 10 103433325 103433325 single base substitution C T synonymous_variant R154R 462G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-1608 COSM1252289 c.1119C>T p.H373H Substitution - coding silent 10:101611628-101611628 - BZ30 COSM1723081 c.38_40delAGG p.E13delE Deletion - In frame 10:101694601-101694603 - TCGA-A6-6653-01 COSM1345395 c.1119+2T>C p.? Unknown 10:101611626-101611626 - YUKAT COSM5369948 c.261G>A p.L87L Substitution - coding silent 10:101676436-101676436 - TCGA-BR-8487-01 COSM4011144 c.575G>A p.S192N Substitution - Missense 10:101673015-101673015 - TCGA-AG-3882-01 COSM5068047 c.759C>T p.S253S Substitution - coding silent 10:101667897-101667897 - CPCG0103-F1 COSM3395952 c.668C>T p.T223M Substitution - Missense 10:101672922-101672922 - GC6_T COSM147033 c.495C>T p.D165D Substitution - coding silent 10:101673535-101673535 - T3301 COSM4684079 c.681G>T p.W227C Substitution - Missense 10:101667975-101667975 - OSCC-GB_00690111 COSM4887008 c.1112G>T p.C371F Substitution - Missense 10:101611635-101611635 - TCGA-DD-A1EL-01 COSM4925816 c.1203T>C p.S401S Substitution - coding silent 10:101611327-101611327 - TCGA-D1-A103-01 COSM914056 c.462G>A p.R154R Substitution - coding silent 10:101673568-101673568 - TCGA-EE-A29M-06 COSM3433669 c.432C>T p.F144F Substitution - coding silent 10:101673598-101673598 - SA083 COSM214465 c.732_738delAGACCGA p.D245fs*14 Deletion - Frameshift 10:101667918-101667924 - 587220 COSM1206876 c.1216G>A p.V406I Substitution - Missense 10:101611314-101611314 - TCGA-AG-3882-01 COSM290902 c.758_759GC>AT p.S253>? Complex 10:101667897-101667898 - TCGA-D3-A2JF-06 COSM3433668 c.1018C>T p.L340L Substitution - coding silent 10:101611729-101611729 - TCGA-HU-8602-01 COSM1206876 c.1216G>A p.V406I Substitution - Missense 10:101611314-101611314 - HCC89 COSM1602886 c.261-10C>G p.? Unknown 10:101676446-101676446 - TCGA-29-1771-01 COSM1321580 c.997G>A p.E333K Substitution - Missense 10:101611750-101611750 - TCGA-AP-A0LM-01 COSM200170 c.1137G>A p.S379S Substitution - coding silent 10:101611393-101611393 - TCGA-AA-3663-01 COSM1345398 c.870delT p.P292fs*86 Deletion - Frameshift 10:101612444-101612444 - tumor_4196670 COSM1723081 c.38_40delAGG p.E13delE Deletion - In frame 10:101694601-101694603 - RK006_C01 COSM1627285 c.634G>A p.G212R Substitution - Missense 10:101672956-101672956 - TCGA-AX-A0J1-01 COSM914052 c.965G>A p.R322H Substitution - Missense 10:101612349-101612349 - CT-TC COSM4989455 c.1120-2A>G p.? Unknown 10:101611412-101611412 - SMS-CTR COSM4989455 c.1120-2A>G p.? Unknown 10:101611412-101611412 - TCGA-G4-6588-01 COSM1345399 c.669G>A p.T223T Substitution - coding silent 10:101672921-101672921 - T2940 COSM4684080 c.483G>A p.G161G Substitution - coding silent 10:101673547-101673547 - TCGA-AG-3882-01 COSM5068048 c.758G>A p.S253N Substitution - Missense 10:101667898-101667898 - I2L-P14b-Tumor-Organoid COSM5359887 c.851C>G p.T284R Substitution - Missense 10:101612463-101612463 - HCC89T COSM1602886 c.261-10C>G p.? Unknown 10:101676446-101676446 - HCC61T COSM1602885 c.971G>A p.S324N Substitution - Missense 10:101612343-101612343 - TCGA-BR-6705-01 COSM4011141 c.1207A>T p.N403Y Substitution - Missense 10:101611323-101611323 - TCGA-BC-A10W-01 COSM4937322 c.310A>G p.R104G Substitution - Missense 10:101676387-101676387 - TCGA-AP-A059-01 COSM914055 c.689C>T p.A230V Substitution - Missense 10:101667967-101667967 - 587342 COSM1206877 c.1027C>A p.L343M Substitution - Missense 10:101611720-101611720 - TCGA-C5-A7UH-01 COSM4856837 c.736C>T p.R246* Substitution - Nonsense 10:101667920-101667920 - TCGA-GN-A266-06 COSM3433669 c.432C>T p.F144F Substitution - coding silent 10:101673598-101673598 - I2L-P14b-Tumor-Biopsy COSM5359887 c.851C>G p.T284R Substitution - Missense 10:101612463-101612463 - TCGA-D3-A2J8-06 COSM3433670 c.414C>T p.F138F Substitution - coding silent 10:101673616-101673616 - CSCC-16-T COSM4487522 c.319C>T p.R107C Substitution - Missense 10:101676378-101676378 - TCGA-G4-6310-01 COSM1345397 c.972C>T p.S324S Substitution - coding silent 10:101612342-101612342 - NCHP_DIPG114 COSM1723081 c.38_40delAGG p.E13delE Deletion - In frame 10:101694601-101694603 - TCGA-CG-5721-01 COSM4011142 c.1170T>C p.R390R Substitution - coding silent 10:101611360-101611360 - TCGA-A8-A08F-01 COSM426958 c.681G>A p.W227* Substitution - Nonsense 10:101667975-101667975 - TCGA-DK-A3WW-01 COSM3790412 c.875C>T p.P292L Substitution - Missense 10:101612439-101612439 - TCGA-B5-A11E-01 COSM914051 c.1122C>A p.A374A Substitution - coding silent 10:101611408-101611408 - TCGA-AD-5900-01 COSM1345396 c.1074C>T p.Y358Y Substitution - coding silent 10:101611673-101611673 - CSCC-16-T COSM4504114 c.656C>T p.S219F Substitution - Missense 10:101672934-101672934 - TCGA-BR-7851-01 COSM914052 c.965G>A p.R322H Substitution - Missense 10:101612349-101612349 - RK006_C1 COSM1627285 c.634G>A p.G212R Substitution - Missense 10:101672956-101672956 - LB2518-MEL COSM25216 c.831C>T p.L277L Substitution - coding silent 10:101624750-101624750 - C113 COSM3395952 c.668C>T p.T223M Substitution - Missense 10:101672922-101672922 - T2647 COSM1723081 c.38_40delAGG p.E13delE Deletion - In frame 10:101694601-101694603 - TCGA-EE-A29R-06 COSM3433669 c.432C>T p.F144F Substitution - coding silent 10:101673598-101673598 - LUAD-B02477 COSM335775 c.381G>C p.E127D Substitution - Missense 10:101673649-101673649 - TCGA-FW-A3R5-06 COSM3866364 c.466C>T p.L156L Substitution - coding silent 10:101673564-101673564 - ATL052 COSM5703426 c.653G>A p.G218D Substitution - Missense 10:101672937-101672937 - SW1222 COSM4654642 c.627T>C p.D209D Substitution - coding silent 10:101672963-101672963 - ESO-859 COSM1206876 c.1216G>A p.V406I Substitution - Missense 10:101611314-101611314 - TCGA-B5-A0K6-01 COSM914054 c.777T>C p.F259F Substitution - coding silent 10:101624804-101624804 - TCGA-AP-A0LE-01 COSM914053 c.912T>C p.P304P Substitution - coding silent 10:101612402-101612402 - RKO COSM4647122 c.638G>A p.G213D Substitution - Missense 10:101672952-101672952 - TCGA-AN-A0AK-01 COSM3806317 c.1198C>A p.L400M Substitution - Missense 10:101611332-101611332 - U031 COSM1683084 c.1000G>A p.E334K Substitution - Missense 10:101611747-101611747 - HCC140T COSM1602887 c.165C>T p.C55C Substitution - coding silent 10:101694476-101694476 - S01864 COSM5671543 c.1144C>A p.L382I Substitution - Missense 10:101611386-101611386 - MN-296 COSM1578756 c.387T>C p.D129D Substitution - coding silent 10:101673643-101673643 - 2_RESISTANT COSM1723081 c.38_40delAGG p.E13delE Deletion - In frame 10:101694601-101694603 - TCGA-BR-8487-01 COSM4011143 c.1135T>A p.S379T Substitution - Missense 10:101611395-101611395 - TCGA-Q1-A73O-01 COSM4836244 c.360G>C p.Q120H Substitution - Missense 10:101673670-101673670 - Au2 COSM1723081 c.38_40delAGG p.E13delE Deletion - In frame 10:101694601-101694603 - ccRCC-67 COSM1661826 c.1239A>T p.*413C Nonstop extension 10:101611291-101611291 - T1743 COSM4684081 c.286C>T p.R96* Substitution - Nonsense 10:101676411-101676411 - ESCC_109 COSM5638818 c.845T>G p.L282R Substitution - Missense 10:101612469-101612469 - TCGA-BH-A0WA-01 COSM426959 c.623_624delTG p.V208fs*36 Deletion - Frameshift 10:101672966-101672967 - TCGA-HJ-7597-01 COSM4011145 c.291G>A p.V97V Substitution - coding silent 10:101676406-101676406 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.500822 10q24 608071 2469693|CGAP|BC063415|A/C|non-coding||1921|Candidate; 2469694|CGAP|BC063415|A/G|non-coding||1841|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.1236+170T>C 10 103370881 CLL A G Synonymous p.P304P c.912T>C 10 103372159 UCEC CA - Frameshift p.V208Gfs*36 c.623_624delTG 10 103432723 BRCA C A Missense p.G106W c.316G>T 10 103436138 LUAD CCT - InFrameDeletion p.E13delE c.38_40delAGG 10 103454358 BLCA CCT - InFrameDeletion p.E13delE c.38_40delAGG 10 103454358 THCA C T Missense p.G212R c.634G>A 10 103432713 HC C T Missense p.V406I c.1216G>A 10 103371071 ESCA C T Nonsense p.W227* c.681G>A 10 103427732 BRCA G A IntronicSNV . c.771-6063C>T 10 103390630 CLL G A Missense p.H201Y c.601C>T 10 103432746 HNSC G A Synonymous p.C266C c.798C>T 10 103384540 LUAD G A Synonymous p.D289D c.867C>T 10 103372204 CM G A Synonymous p.D365D c.1095C>T 10 103371409 CM G A Synonymous p.F138F c.414C>T 10 103433373 CM G A Synonymous p.F144F c.432C>T 10 103433355 CM G A Synonymous p.L340L c.1018C>T 10 103371486 CM G A Synonymous p.Y358Y c.1074C>T 10 103371430 BRCA GC AT Missense p.S253N c.758_759delinsAT 10 103427654 COREAD T A IntronicSNV . c.771-10525A>T 10 103395092 CLL T A Missense p.N403Y c.1207A>T 10 103371080 STAD