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 12 3921573 3921573 + Missense_Mutation SNP T T C TCGA-OR-A5JF-01A-11D-A29I-10 TCGA-OR-A5JF-10A-01D-A29L-10 g.chr12:3921573T>C c.733A>G c.(733-735)Agt>Ggt p.S245G BLCA 12 3923240 3923240 + Missense_Mutation SNP C C G TCGA-FD-A43P-01A-31D-A23U-08 TCGA-FD-A43P-10A-01D-A23U-08 g.chr12:3923240C>G c.663G>C c.(661-663)tgG>tgC p.W221C BRCA 12 3921319 3921319 + Silent SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:3921319G>T c.987C>A c.(985-987)atC>atA p.I329I BRCA 12 3931108 3931108 + Missense_Mutation SNP G G A TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr12:3931108G>A c.479C>T c.(478-480)aCg>aTg p.T160M BRCA 12 3939170 3939170 + Silent SNP T T C TCGA-A8-A06Z-01A-11W-A019-09 TCGA-A8-A06Z-10A-01W-A021-09 g.chr12:3939170T>C c.33A>G c.(31-33)aaA>aaG p.K11K CESC 12 3921552 3921552 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr12:3921552T>C c.754A>G c.(754-756)Ata>Gta p.I252V CESC 12 3939163 3939163 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr12:3939163C>A c.40G>T c.(40-42)Gaa>Taa p.E14* COAD 12 3921401 3921401 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:3921401C>T c.905G>A c.(904-906)gGg>gAg p.G302E COAD 12 3921504 3921504 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr12:3921504G>A c.802C>T c.(802-804)Cgg>Tgg p.R268W COAD 12 3921559 3921559 + Silent SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:3921559T>C c.747A>G c.(745-747)aaA>aaG p.K249K COAD 12 3921560 3921560 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:3921560T>C c.746A>G c.(745-747)aAa>aGa p.K249R COAD 12 3921560 3921560 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr12:3921560T>C c.746A>G c.(745-747)aAa>aGa p.K249R COAD 12 3931093 3931093 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:3931093C>T c.494G>A c.(493-495)cGa>cAa p.R165Q COAD 12 3931098 3931098 + Silent SNP G G A TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr12:3931098G>A c.489C>T c.(487-489)cgC>cgT p.R163R COAD 12 3931108 3931108 + Missense_Mutation SNP G G A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr12:3931108G>A c.479C>T c.(478-480)aCg>aTg p.T160M COAD 12 3939061 3939061 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:3939061A>G c.142T>C c.(142-144)Ttt>Ctt p.F48L COADREAD 12 3921401 3921401 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr12:3921401C>T c.905G>A c.(904-906)gGg>gAg p.G302E COADREAD 12 3921504 3921504 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr12:3921504G>A c.802C>T c.(802-804)Cgg>Tgg p.R268W COADREAD 12 3921559 3921559 + Silent SNP T T C TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:3921559T>C c.747A>G c.(745-747)aaA>aaG p.K249K COADREAD 12 3921560 3921560 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr12:3921560T>C c.746A>G c.(745-747)aAa>aGa p.K249R COADREAD 12 3921560 3921560 + Missense_Mutation SNP T T C TCGA-CA-5797-01A-01D-1650-10 TCGA-CA-5797-10A-01D-1650-10 g.chr12:3921560T>C c.746A>G c.(745-747)aAa>aGa p.K249R COADREAD 12 3931093 3931093 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:3931093C>T c.494G>A c.(493-495)cGa>cAa p.R165Q COADREAD 12 3931098 3931098 + Silent SNP G G A TCGA-AA-A01K-01A-01W-A00E-09 TCGA-AA-A01K-10A-01W-A00E-09 g.chr12:3931098G>A c.489C>T c.(487-489)cgC>cgT p.R163R COADREAD 12 3931108 3931108 + Missense_Mutation SNP G G A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr12:3931108G>A c.479C>T c.(478-480)aCg>aTg p.T160M COADREAD 12 3939061 3939061 + Missense_Mutation SNP A A G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:3939061A>G c.142T>C c.(142-144)Ttt>Ctt p.F48L COADREAD 12 3939084 3939084 + Missense_Mutation SNP G G T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr12:3939084G>T c.119C>A c.(118-120)gCa>gAa p.A40E COADREAD 12 3939099 3939099 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:3939099C>T c.104G>A c.(103-105)gGc>gAc p.G35D DLBC 12 3931308 3931308 + Silent SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr12:3931308G>A c.360C>T c.(358-360)aaC>aaT p.N120N ESCA 12 3935364 3935364 + Missense_Mutation SNP G G T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr12:3935364G>T c.304C>A c.(304-306)Cgc>Agc p.R102S GBMLGG 12 3939117 3939117 + De_novo_Start_OutOfFrame SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:3939117G>A HNSC 12 3921420 3921420 + Nonsense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr12:3921420G>A c.886C>T c.(886-888)Cga>Tga p.R296* HNSC 12 3931108 3931108 + Missense_Mutation SNP G G A TCGA-CR-6487-01A-11D-1870-08 TCGA-CR-6487-10A-01D-1870-08 g.chr12:3931108G>A c.479C>T c.(478-480)aCg>aTg p.T160M HNSC 12 3935380 3935380 + Silent SNP G G A TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 g.chr12:3935380G>A c.288C>T c.(286-288)ctC>ctT p.L96L HNSC 12 3939117 3939117 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 g.chr12:3939117G>T c.86C>A c.(85-87)aCg>aAg p.T29K KIPAN 12 3921402 3921402 + Missense_Mutation SNP C C A TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr12:3921402C>A c.904G>T c.(904-906)Ggg>Tgg p.G302W KIPAN 12 3939160 3939160 + Missense_Mutation SNP A A T TCGA-BP-4977-01A-01D-1462-08 TCGA-BP-4977-11A-01D-1462-08 g.chr12:3939160A>T c.43T>A c.(43-45)Tta>Ata p.L15I KIRC 12 3939160 3939160 + Missense_Mutation SNP A A T TCGA-BP-4977-01A-01D-1462-08 TCGA-BP-4977-11A-01D-1462-08 g.chr12:3939160A>T c.43T>A c.(43-45)Tta>Ata p.L15I KIRP 12 3921402 3921402 + Missense_Mutation SNP C C A TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr12:3921402C>A c.904G>T c.(904-906)Ggg>Tgg p.G302W LGG 12 3939117 3939117 + De_novo_Start_OutOfFrame SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:3939117G>A LIHC 12 3923215 3923215 + Missense_Mutation SNP C C T TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr12:3923215C>T c.688G>A c.(688-690)Gtc>Atc p.V230I LIHC 12 3931065 3931065 + Silent SNP G G A TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr12:3931065G>A c.522C>T c.(520-522)aaC>aaT p.N174N LIHC 12 3939151 3939151 + Missense_Mutation SNP T T C TCGA-DD-A4ND-01A-11D-A25V-10 TCGA-DD-A4ND-11A-11D-A25V-10 g.chr12:3939151T>C c.52A>G c.(52-54)Aaa>Gaa p.K18E LIHC 12 3939168 3939168 + Missense_Mutation SNP G G C TCGA-BC-A10U-01A-11D-A12Z-10 TCGA-BC-A10U-11A-11D-A12Z-10 g.chr12:3939168G>C c.35C>G c.(34-36)gCa>gGa p.A12G LUAD 12 3921379 3921379 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr12:3921379G>A c.927C>T c.(925-927)gaC>gaT p.D309D LUAD 12 3923203 3923203 + Splice_Site SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr12:3923203C>A c.700G>T c.(700-702)Gga>Tga p.G234* LUSC 12 3921356 3921356 + Missense_Mutation SNP T T A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr12:3921356T>A c.950A>T c.(949-951)aAc>aTc p.N317I LUSC 12 3931253 3931253 + Nonsense_Mutation SNP G G A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 g.chr12:3931253G>A c.415C>T c.(415-417)Cag>Tag p.Q139* OV 12 3921561 3921561 + Missense_Mutation SNP T T C TCGA-13-1507-01A-01W-0549-09 TCGA-13-1507-10A-01W-0550-09 g.chr12:3921561T>C c.745A>G c.(745-747)Aaa>Gaa p.K249E PAAD 12 3931121 3931121 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:3931121G>T c.466C>A c.(466-468)Ctc>Atc p.L156I PAAD 12 3939112 3939112 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:3939112C>T c.91G>A c.(91-93)Gat>Aat p.D31N PRAD 12 3923277 3923277 + Missense_Mutation SNP T T A TCGA-FC-A8O0-01A-41D-A377-08 TCGA-FC-A8O0-10A-01D-A37A-08 g.chr12:3923277T>A c.626A>T c.(625-627)gAa>gTa p.E209V READ 12 3939084 3939084 + Missense_Mutation SNP G G T TCGA-CI-6624-01C-11D-1826-10 TCGA-CI-6624-10A-01D-1826-10 g.chr12:3939084G>T c.119C>A c.(118-120)gCa>gAa p.A40E READ 12 3939099 3939099 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:3939099C>T c.104G>A c.(103-105)gGc>gAc p.G35D SKCM 12 3921430 3921430 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr12:3921430G>A c.876C>T c.(874-876)tcC>tcT p.S292S SKCM 12 3931093 3931093 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:3931093C>T c.494G>A c.(493-495)cGa>cAa p.R165Q SKCM 12 3935326 3935326 + Silent SNP G G A TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr12:3935326G>A c.342C>T c.(340-342)ttC>ttT p.F114F SKCM 12 3939121 3939121 + Missense_Mutation SNP C C G TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:3939121C>G c.82G>C c.(82-84)Gac>Cac p.D28H

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 12 3895960 3895960 single base substitution T C downstream_gene_variant BRCA-EU 12 3897189 3897189 single base substitution C G downstream_gene_variant BRCA-EU 12 3897576 3897576 single base substitution G C downstream_gene_variant BRCA-EU 12 3898373 3898373 single base substitution C G downstream_gene_variant BRCA-EU 12 3899031 3899031 single base substitution C T downstream_gene_variant BRCA-EU 12 3900273 3900273 single base substitution T A 3_prime_UTR_variant BRCA-EU 12 3900313 3900313 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 3900812 3900812 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 3900885 3900885 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 3901245 3901245 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 3904230 3904230 insertion of <=200bp - AA intron_variant BRCA-EU 12 3904639 3904639 single base substitution A T intron_variant BRCA-EU 12 3904935 3904935 single base substitution T G intron_variant BRCA-EU 12 3904998 3904998 single base substitution G A intron_variant BRCA-EU 12 3905196 3905196 single base substitution T G intron_variant BRCA-EU 12 3907803 3907803 single base substitution G C intron_variant BRCA-EU 12 3907865 3907865 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 3907950 3907950 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 3908494 3908494 single base substitution G C intron_variant BRCA-EU 12 3909892 3909892 deletion of <=200bp T - intron_variant BRCA-EU 12 3910470 3910470 single base substitution C T intron_variant BRCA-EU 12 3910660 3910660 single base substitution C A intron_variant BRCA-EU 12 3910727 3910727 insertion of <=200bp - T intron_variant BRCA-EU 12 3910999 3910999 single base substitution A T intron_variant BRCA-EU 12 3911721 3911721 single base substitution C T downstream_gene_variant BRCA-EU 12 3911721 3911721 single base substitution C T intron_variant BRCA-EU 12 3911946 3911946 single base substitution C T downstream_gene_variant BRCA-EU 12 3911946 3911946 single base substitution C T intron_variant BRCA-EU 12 3912070 3912070 single base substitution G C downstream_gene_variant BRCA-EU 12 3912070 3912070 single base substitution G C intron_variant BRCA-EU 12 3912224 3912224 single base substitution T A downstream_gene_variant BRCA-EU 12 3912224 3912224 single base substitution T A intron_variant BRCA-EU 12 3914232 3914232 single base substitution G A downstream_gene_variant BRCA-EU 12 3914232 3914232 single base substitution G A intron_variant BRCA-EU 12 3914967 3914967 single base substitution C T downstream_gene_variant BRCA-EU 12 3914967 3914967 single base substitution C T intron_variant BRCA-EU 12 3915981 3915981 single base substitution A G downstream_gene_variant BRCA-EU 12 3915981 3915981 single base substitution A G intron_variant BRCA-EU 12 3916915 3916915 single base substitution C A downstream_gene_variant BRCA-EU 12 3916915 3916915 single base substitution C A intron_variant BRCA-EU 12 3916955 3916955 single base substitution C T downstream_gene_variant BRCA-EU 12 3916955 3916955 single base substitution C T intron_variant BRCA-EU 12 3918594 3918594 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 12 3918594 3918594 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 3918594 3918594 deletion of <=200bp T - intron_variant BRCA-EU 12 3919230 3919233 deletion of <=200bp TCTG - 3_prime_UTR_variant BRCA-EU 12 3919230 3919233 deletion of <=200bp TCTG - downstream_gene_variant BRCA-EU 12 3919230 3919233 deletion of <=200bp TCTG - intron_variant BRCA-EU 12 3920282 3920282 single base substitution C A 3_prime_UTR_variant BRCA-EU 12 3920282 3920282 single base substitution C A downstream_gene_variant BRCA-EU 12 3920282 3920282 single base substitution C A intron_variant BRCA-EU 12 3920302 3920302 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 3920302 3920302 single base substitution C G downstream_gene_variant BRCA-EU 12 3920302 3920302 single base substitution C G intron_variant BRCA-EU 12 3920422 3920422 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 12 3920422 3920422 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 3920422 3920422 insertion of <=200bp - A intron_variant BRCA-EU 12 3920909 3920909 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 12 3920909 3920909 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 3920909 3920909 deletion of <=200bp T - exon_variant BRCA-EU 12 3920909 3920909 deletion of <=200bp T - intron_variant BRCA-EU 12 3922644 3922644 deletion of <=200bp A - intron_variant BRCA-EU 12 3923012 3923012 single base substitution A C intron_variant BRCA-EU 12 3923238 3923238 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 3923238 3923238 single base substitution C G exon_variant BRCA-EU 12 3923238 3923238 single base substitution C G missense_variant R141T 422G>C BRCA-EU 12 3923238 3923238 single base substitution C G missense_variant R215T 644G>C BRCA-EU 12 3923238 3923238 single base substitution C G missense_variant R222T 665G>C BRCA-EU 12 3924090 3924090 single base substitution T A intron_variant BRCA-EU 12 3924220 3924220 single base substitution C T intron_variant BRCA-EU 12 3924220 3924220 single base substitution C T splice_acceptor_variant BRCA-EU 12 3924377 3924377 single base substitution G A intron_variant BRCA-EU 12 3924545 3924545 single base substitution C G intron_variant BRCA-EU 12 3925945 3925945 single base substitution G C intron_variant BRCA-EU 12 3926031 3926031 single base substitution G A intron_variant BRCA-EU 12 3927889 3927889 single base substitution G A intron_variant BRCA-EU 12 3928413 3928413 single base substitution C G intron_variant BRCA-EU 12 3928513 3928513 single base substitution C T intron_variant BRCA-EU 12 3928911 3928911 single base substitution C G intron_variant BRCA-EU 12 3931500 3931500 single base substitution C T intron_variant BRCA-EU 12 3931500 3931500 single base substitution C T upstream_gene_variant BRCA-EU 12 3932314 3932314 single base substitution C G intron_variant BRCA-EU 12 3932314 3932314 single base substitution C G upstream_gene_variant BRCA-EU 12 3932556 3932556 single base substitution T G intron_variant BRCA-EU 12 3932556 3932556 single base substitution T G upstream_gene_variant BRCA-EU 12 3934174 3934174 single base substitution G C downstream_gene_variant BRCA-EU 12 3934174 3934174 single base substitution G C intron_variant BRCA-EU 12 3934174 3934174 single base substitution G C upstream_gene_variant BRCA-EU 12 3934385 3934385 single base substitution C A downstream_gene_variant BRCA-EU 12 3934385 3934385 single base substitution C A intron_variant BRCA-EU 12 3934385 3934385 single base substitution C A upstream_gene_variant BRCA-EU 12 3934961 3934961 single base substitution C T downstream_gene_variant BRCA-EU 12 3934961 3934961 single base substitution C T intron_variant BRCA-EU 12 3934961 3934961 single base substitution C T upstream_gene_variant BRCA-EU 12 3935043 3935043 single base substitution C A downstream_gene_variant BRCA-EU 12 3935043 3935043 single base substitution C A intron_variant BRCA-EU 12 3935043 3935043 single base substitution C A upstream_gene_variant BRCA-EU 12 3935158 3935158 single base substitution G C downstream_gene_variant BRCA-EU 12 3935158 3935158 single base substitution G C intron_variant BRCA-EU 12 3935158 3935158 single base substitution G C upstream_gene_variant BRCA-EU 12 3935446 3935446 single base substitution A G downstream_gene_variant BRCA-EU 12 3935446 3935446 single base substitution A G intron_variant BRCA-EU 12 3935446 3935446 single base substitution A G upstream_gene_variant BRCA-EU 12 3937686 3937686 single base substitution C T downstream_gene_variant BRCA-EU 12 3937686 3937686 single base substitution C T intron_variant BRCA-EU 12 3938509 3938509 single base substitution A C intron_variant BRCA-EU 12 3938525 3938525 single base substitution T A intron_variant BRCA-EU 12 3938640 3938640 single base substitution C A intron_variant BRCA-EU 12 3940016 3940016 single base substitution C T intron_variant BRCA-EU 12 3940067 3940067 single base substitution A C intron_variant BRCA-EU 12 3940270 3940270 deletion of <=200bp A - intron_variant BRCA-EU 12 3941188 3941188 single base substitution C G intron_variant BRCA-EU 12 3941922 3941922 single base substitution C T intron_variant BRCA-EU 12 3942147 3942147 deletion of <=200bp G - intron_variant BRCA-EU 12 3942323 3942323 single base substitution T C intron_variant BRCA-EU 12 3942385 3942385 single base substitution C T intron_variant BRCA-EU 12 3942749 3942749 single base substitution C A intron_variant BRCA-EU 12 3943273 3943273 single base substitution G A intron_variant BRCA-EU 12 3943723 3943723 single base substitution C A intron_variant BRCA-EU 12 3943923 3943923 single base substitution C A intron_variant BRCA-EU 12 3944291 3944291 deletion of <=200bp A - intron_variant BRCA-EU 12 3945652 3945652 single base substitution A C intron_variant BRCA-EU 12 3946511 3946511 single base substitution A T intron_variant BRCA-EU 12 3947673 3947673 deletion of <=200bp A - intron_variant BRCA-EU 12 3948134 3948134 single base substitution C G intron_variant BRCA-EU 12 3950333 3950333 single base substitution C A intron_variant BRCA-EU 12 3952213 3952213 single base substitution C T intron_variant BRCA-EU 12 3952235 3952235 single base substitution G A intron_variant BRCA-EU 12 3952303 3952303 single base substitution T C intron_variant BRCA-EU 12 3952746 3952746 single base substitution T C intron_variant BRCA-EU 12 3953115 3953115 single base substitution T C intron_variant BRCA-EU 12 3953123 3953123 insertion of <=200bp - T intron_variant BRCA-EU 12 3954349 3954349 single base substitution C G intron_variant BRCA-EU 12 3954916 3954916 single base substitution A G intron_variant BRCA-EU 12 3955441 3955441 single base substitution A T intron_variant BRCA-EU 12 3957416 3957416 single base substitution C A intron_variant BRCA-EU 12 3957908 3957908 single base substitution G C intron_variant BRCA-EU 12 3958425 3958425 deletion of <=200bp A - intron_variant BRCA-EU 12 3958425 3958425 insertion of <=200bp - A intron_variant BRCA-EU 12 3960454 3960454 single base substitution G T intron_variant BRCA-EU 12 3960808 3960808 single base substitution G A intron_variant BRCA-EU 12 3960814 3960814 single base substitution T G intron_variant BRCA-EU 12 3961278 3961278 single base substitution C A intron_variant BRCA-EU 12 3961588 3961588 single base substitution C G intron_variant BRCA-EU 12 3963105 3963105 single base substitution C G intron_variant BRCA-EU 12 3964170 3964170 single base substitution T C intron_variant BRCA-EU 12 3965457 3965457 single base substitution T C intron_variant BRCA-EU 12 3966997 3966997 single base substitution T G intron_variant BRCA-EU 12 3967609 3967609 single base substitution C G intron_variant BRCA-EU 12 3968623 3968623 single base substitution G A intron_variant BRCA-EU 12 3969482 3969482 single base substitution T C intron_variant BRCA-EU 12 3971658 3971658 single base substitution C T intron_variant BRCA-EU 12 3971903 3971903 single base substitution C A intron_variant BRCA-EU 12 3974269 3974269 single base substitution C G intron_variant BRCA-EU 12 3975591 3975591 single base substitution G A intron_variant BRCA-EU 12 3975655 3975655 single base substitution A T intron_variant BRCA-EU 12 3975894 3975894 single base substitution C T intron_variant BRCA-EU 12 3976645 3976645 single base substitution C A intron_variant BRCA-EU 12 3977577 3977577 single base substitution G C intron_variant BRCA-EU 12 3978662 3978662 single base substitution C G intron_variant BRCA-EU 12 3978804 3978804 single base substitution C T intron_variant BRCA-EU 12 3979839 3979839 single base substitution C G intron_variant BRCA-EU 12 3982131 3982131 single base substitution G A intron_variant BRCA-EU 12 3982950 3982950 single base substitution T G upstream_gene_variant BRCA-EU 12 3983472 3983472 single base substitution T C upstream_gene_variant BRCA-EU 12 3983501 3983501 single base substitution T C upstream_gene_variant BRCA-EU 12 3986319 3986319 single base substitution T C upstream_gene_variant BRCA-EU 12 3986620 3986620 single base substitution C A upstream_gene_variant BRCA-EU 12 3986868 3986868 single base substitution G C upstream_gene_variant BRCA-EU 12 3987455 3987455 single base substitution C G upstream_gene_variant BRCA-FR 12 3899031 3899031 single base substitution C T downstream_gene_variant BRCA-FR 12 3914967 3914967 single base substitution C T downstream_gene_variant BRCA-FR 12 3914967 3914967 single base substitution C T intron_variant BRCA-FR 12 3920081 3920081 single base substitution C T 3_prime_UTR_variant BRCA-FR 12 3920081 3920081 single base substitution C T downstream_gene_variant BRCA-FR 12 3920081 3920081 single base substitution C T intron_variant BRCA-FR 12 3923346 3923346 single base substitution G A 3_prime_UTR_variant BRCA-FR 12 3923346 3923346 single base substitution G A exon_variant BRCA-FR 12 3923346 3923346 single base substitution G A missense_variant A105V 314C>T BRCA-FR 12 3923346 3923346 single base substitution G A missense_variant A179V 536C>T BRCA-FR 12 3923346 3923346 single base substitution G A missense_variant A186V 557C>T BRCA-FR 12 3924435 3924435 single base substitution G A intron_variant BRCA-FR 12 3928911 3928911 single base substitution C G intron_variant BRCA-FR 12 3942385 3942385 single base substitution C T intron_variant BRCA-FR 12 3955441 3955441 single base substitution A T intron_variant BRCA-FR 12 3959657 3959657 single base substitution C T intron_variant BRCA-FR 12 3975894 3975894 single base substitution C T intron_variant BRCA-FR 12 3987015 3987015 single base substitution C A upstream_gene_variant BRCA-FR 12 3987455 3987455 single base substitution C G upstream_gene_variant BRCA-UK 12 3910155 3910155 single base substitution C T intron_variant BRCA-UK 12 3937686 3937686 single base substitution C T downstream_gene_variant BRCA-UK 12 3937686 3937686 single base substitution C T intron_variant BRCA-UK 12 3940067 3940067 single base substitution A C intron_variant BRCA-UK 12 3961588 3961588 single base substitution C G intron_variant BRCA-UK 12 3961890 3961890 single base substitution G A intron_variant BRCA-US 12 3921319 3921319 single base substitution G T 3_prime_UTR_variant BRCA-US 12 3921319 3921319 single base substitution G T intron_variant BRCA-US 12 3921319 3921319 single base substitution G T synonymous_variant I248I 744C>A BRCA-US 12 3921319 3921319 single base substitution G T synonymous_variant I329I 987C>A BRCA-US 12 3931108 3931108 single base substitution G A 3_prime_UTR_variant BRCA-US 12 3931108 3931108 single base substitution G A exon_variant BRCA-US 12 3931108 3931108 single base substitution G A missense_variant T153M 458C>T BRCA-US 12 3931108 3931108 single base substitution G A missense_variant T160M 479C>T BRCA-US 12 3931108 3931108 single base substitution G A missense_variant T79M 236C>T BRCA-US 12 3939170 3939170 single base substitution T C 5_prime_UTR_variant BRCA-US 12 3939170 3939170 single base substitution T C exon_variant BRCA-US 12 3939170 3939170 single base substitution T C synonymous_variant K11K 33A>G BRCA-US 12 3939170 3939170 single base substitution T C synonymous_variant K4K 12A>G BTCA-JP 12 3935280 3935280 deletion of <=200bp A - downstream_gene_variant BTCA-JP 12 3935280 3935280 deletion of <=200bp A - intron_variant BTCA-JP 12 3935280 3935280 deletion of <=200bp A - upstream_gene_variant BTCA-JP 12 3935289 3935289 single base substitution A C downstream_gene_variant BTCA-JP 12 3935289 3935289 single base substitution A C intron_variant BTCA-JP 12 3935289 3935289 single base substitution A C upstream_gene_variant BTCA-JP 12 3935528 3935528 single base substitution G A downstream_gene_variant BTCA-JP 12 3935528 3935528 single base substitution G A intron_variant BTCA-JP 12 3935528 3935528 single base substitution G A upstream_gene_variant BTCA-JP 12 3951177 3951177 single base substitution G A intron_variant BTCA-JP 12 3982462 3982462 deletion of <=200bp T - 5_prime_UTR_variant BTCA-JP 12 3982661 3982661 single base substitution G C upstream_gene_variant CESC-US 12 3921552 3921552 single base substitution T C 3_prime_UTR_variant CESC-US 12 3921552 3921552 single base substitution T C intron_variant CESC-US 12 3921552 3921552 single base substitution T C missense_variant I171V 511A>G CESC-US 12 3921552 3921552 single base substitution T C missense_variant I252V 754A>G CESC-US 12 3939163 3939163 single base substitution C A 5_prime_UTR_variant CESC-US 12 3939163 3939163 single base substitution C A exon_variant CESC-US 12 3939163 3939163 single base substitution C A stop_gained E14* 40G>T CESC-US 12 3939163 3939163 single base substitution C A stop_gained E7* 19G>T CLLE-ES 12 3935068 3935068 deletion of <=200bp G - downstream_gene_variant CLLE-ES 12 3935068 3935068 deletion of <=200bp G - intron_variant CLLE-ES 12 3935068 3935068 deletion of <=200bp G - upstream_gene_variant CLLE-ES 12 3943992 3943992 single base substitution G A intron_variant CLLE-ES 12 3963347 3963347 single base substitution C A intron_variant COCA-CN 12 3921387 3921387 single base substitution A C 3_prime_UTR_variant COCA-CN 12 3921387 3921387 single base substitution A C intron_variant COCA-CN 12 3921387 3921387 single base substitution A C missense_variant L226V 676T>G COCA-CN 12 3921387 3921387 single base substitution A C missense_variant L307V 919T>G COCA-CN 12 3921618 3921618 single base substitution G T intron_variant COCA-CN 12 3921644 3921644 single base substitution G A intron_variant COCA-CN 12 3924077 3924077 single base substitution G T intron_variant COCA-CN 12 3931375 3931375 single base substitution G A intron_variant COCA-CN 12 3931375 3931375 single base substitution G A upstream_gene_variant COCA-CN 12 3931622 3931622 single base substitution A G intron_variant COCA-CN 12 3931622 3931622 single base substitution A G upstream_gene_variant COCA-CN 12 3931630 3931630 single base substitution G T intron_variant COCA-CN 12 3931630 3931630 single base substitution G T upstream_gene_variant COCA-CN 12 3938155 3938155 single base substitution G A exon_variant COCA-CN 12 3938155 3938155 single base substitution G A intron_variant COCA-CN 12 3938155 3938155 single base substitution G A missense_variant S42L 125C>T COCA-CN 12 3938155 3938155 single base substitution G A synonymous_variant I56I 168C>T COCA-CN 12 3938155 3938155 single base substitution G A synonymous_variant I63I 189C>T COCA-CN 12 3939020 3939020 single base substitution G A intron_variant COCA-CN 12 3939116 3939116 single base substitution C T 5_prime_UTR_variant COCA-CN 12 3939116 3939116 single base substitution C T exon_variant COCA-CN 12 3939116 3939116 single base substitution C T missense_variant R8H 23G>A COCA-CN 12 3939116 3939116 single base substitution C T synonymous_variant T22T 66G>A COCA-CN 12 3939116 3939116 single base substitution C T synonymous_variant T29T 87G>A COCA-CN 12 3941211 3941211 single base substitution T C intron_variant COCA-CN 12 3949922 3949922 single base substitution C T intron_variant COCA-CN 12 3951695 3951695 single base substitution G A intron_variant ESAD-UK 12 3895591 3895591 single base substitution T C downstream_gene_variant ESAD-UK 12 3896586 3896586 single base substitution G T downstream_gene_variant ESAD-UK 12 3896644 3896644 single base substitution G T downstream_gene_variant ESAD-UK 12 3897689 3897689 single base substitution G T downstream_gene_variant ESAD-UK 12 3900486 3900486 single base substitution C T 3_prime_UTR_variant ESAD-UK 12 3901992 3901992 single base substitution C T intron_variant ESAD-UK 12 3904185 3904185 single base substitution G C intron_variant ESAD-UK 12 3904641 3904641 single base substitution A C intron_variant ESAD-UK 12 3905262 3905262 single base substitution A G intron_variant ESAD-UK 12 3905291 3905291 single base substitution T A intron_variant ESAD-UK 12 3905727 3905727 single base substitution G A intron_variant ESAD-UK 12 3908518 3908518 single base substitution A G intron_variant ESAD-UK 12 3911254 3911254 single base substitution C T downstream_gene_variant ESAD-UK 12 3911254 3911254 single base substitution C T intron_variant ESAD-UK 12 3911265 3911265 single base substitution C G downstream_gene_variant ESAD-UK 12 3911265 3911265 single base substitution C G intron_variant ESAD-UK 12 3913278 3913278 single base substitution C T downstream_gene_variant ESAD-UK 12 3913278 3913278 single base substitution C T intron_variant ESAD-UK 12 3913703 3913703 single base substitution A C downstream_gene_variant ESAD-UK 12 3913703 3913703 single base substitution A C intron_variant ESAD-UK 12 3914628 3914628 single base substitution C A downstream_gene_variant ESAD-UK 12 3914628 3914628 single base substitution C A intron_variant ESAD-UK 12 3916542 3916542 single base substitution T C downstream_gene_variant ESAD-UK 12 3916542 3916542 single base substitution T C intron_variant ESAD-UK 12 3916869 3916869 single base substitution T C downstream_gene_variant ESAD-UK 12 3916869 3916869 single base substitution T C intron_variant ESAD-UK 12 3920252 3920252 single base substitution A G 3_prime_UTR_variant ESAD-UK 12 3920252 3920252 single base substitution A G downstream_gene_variant ESAD-UK 12 3920252 3920252 single base substitution A G intron_variant ESAD-UK 12 3924684 3924684 single base substitution T G intron_variant ESAD-UK 12 3926668 3926668 single base substitution T G intron_variant ESAD-UK 12 3928142 3928142 single base substitution C T intron_variant ESAD-UK 12 3928380 3928380 single base substitution G A intron_variant ESAD-UK 12 3929636 3929636 single base substitution A T intron_variant ESAD-UK 12 3930420 3930420 single base substitution C T intron_variant ESAD-UK 12 3931472 3931472 single base substitution T C intron_variant ESAD-UK 12 3931472 3931472 single base substitution T C upstream_gene_variant ESAD-UK 12 3932648 3932648 single base substitution C T intron_variant ESAD-UK 12 3932648 3932648 single base substitution C T upstream_gene_variant ESAD-UK 12 3932795 3932795 single base substitution A C intron_variant ESAD-UK 12 3932795 3932795 single base substitution A C upstream_gene_variant ESAD-UK 12 3934587 3934587 single base substitution G A downstream_gene_variant ESAD-UK 12 3934587 3934587 single base substitution G A intron_variant ESAD-UK 12 3934587 3934587 single base substitution G A upstream_gene_variant ESAD-UK 12 3935900 3935900 single base substitution A G downstream_gene_variant ESAD-UK 12 3935900 3935900 single base substitution A G intron_variant ESAD-UK 12 3935900 3935900 single base substitution A G upstream_gene_variant ESAD-UK 12 3935945 3935945 single base substitution T G downstream_gene_variant ESAD-UK 12 3935945 3935945 single base substitution T G intron_variant ESAD-UK 12 3935945 3935945 single base substitution T G upstream_gene_variant ESAD-UK 12 3936379 3936379 single base substitution A T downstream_gene_variant ESAD-UK 12 3936379 3936379 single base substitution A T intron_variant ESAD-UK 12 3937335 3937335 single base substitution G A downstream_gene_variant ESAD-UK 12 3937335 3937335 single base substitution G A intron_variant ESAD-UK 12 3937750 3937750 single base substitution T C downstream_gene_variant ESAD-UK 12 3937750 3937750 single base substitution T C intron_variant ESAD-UK 12 3938088 3938088 single base substitution T A downstream_gene_variant ESAD-UK 12 3938088 3938088 single base substitution T A exon_variant ESAD-UK 12 3938088 3938088 single base substitution T A intron_variant ESAD-UK 12 3938088 3938088 single base substitution T A missense_variant I79L 235A>T ESAD-UK 12 3938088 3938088 single base substitution T A missense_variant I86L 256A>T ESAD-UK 12 3939117 3939117 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 12 3939117 3939117 single base substitution G A exon_variant ESAD-UK 12 3939117 3939117 single base substitution G A missense_variant R8C 22C>T ESAD-UK 12 3939117 3939117 single base substitution G A missense_variant T22M 65C>T ESAD-UK 12 3939117 3939117 single base substitution G A missense_variant T29M 86C>T ESAD-UK 12 3939702 3939702 single base substitution G A intron_variant ESAD-UK 12 3941611 3941611 single base substitution A C intron_variant ESAD-UK 12 3942648 3942648 single base substitution T C intron_variant ESAD-UK 12 3942795 3942795 single base substitution C A intron_variant ESAD-UK 12 3942812 3942812 deletion of <=200bp A - intron_variant ESAD-UK 12 3945202 3945202 single base substitution T C intron_variant ESAD-UK 12 3948290 3948290 single base substitution C T intron_variant ESAD-UK 12 3948513 3948513 single base substitution G A intron_variant ESAD-UK 12 3948844 3948844 single base substitution C G intron_variant ESAD-UK 12 3949558 3949558 single base substitution A G intron_variant ESAD-UK 12 3949641 3949641 single base substitution T A intron_variant ESAD-UK 12 3949718 3949718 single base substitution C T intron_variant ESAD-UK 12 3954803 3954803 single base substitution G A intron_variant ESAD-UK 12 3955441 3955441 single base substitution A T intron_variant ESAD-UK 12 3955873 3955873 single base substitution A G intron_variant ESAD-UK 12 3956000 3956000 single base substitution C T intron_variant ESAD-UK 12 3956379 3956379 single base substitution G A intron_variant ESAD-UK 12 3957258 3957258 single base substitution G A intron_variant ESAD-UK 12 3957379 3957379 single base substitution T G intron_variant ESAD-UK 12 3957813 3957813 single base substitution A C intron_variant ESAD-UK 12 3958485 3958485 insertion of <=200bp - A intron_variant ESAD-UK 12 3961457 3961457 single base substitution G A intron_variant ESAD-UK 12 3961732 3961732 single base substitution A G intron_variant ESAD-UK 12 3961957 3961957 single base substitution G A intron_variant ESAD-UK 12 3962497 3962497 single base substitution C T intron_variant ESAD-UK 12 3962516 3962516 single base substitution A C intron_variant ESAD-UK 12 3964140 3964140 single base substitution C T intron_variant ESAD-UK 12 3971052 3971052 single base substitution G A intron_variant ESAD-UK 12 3971635 3971635 insertion of <=200bp - G intron_variant ESAD-UK 12 3972463 3972463 single base substitution C T intron_variant ESAD-UK 12 3972964 3972964 single base substitution A G intron_variant ESAD-UK 12 3975185 3975185 single base substitution T A intron_variant ESAD-UK 12 3975922 3975922 single base substitution T A intron_variant ESAD-UK 12 3978316 3978316 insertion of <=200bp - T intron_variant ESAD-UK 12 3981778 3981778 single base substitution G A intron_variant ESAD-UK 12 3982826 3982826 single base substitution T G upstream_gene_variant ESAD-UK 12 3982935 3982935 single base substitution G A upstream_gene_variant ESAD-UK 12 3984943 3984943 single base substitution A T upstream_gene_variant ESAD-UK 12 3984994 3984996 deletion of <=200bp ATC - upstream_gene_variant ESAD-UK 12 3985756 3985756 insertion of <=200bp - T upstream_gene_variant ESAD-UK 12 3986187 3986187 single base substitution T G upstream_gene_variant ESAD-UK 12 3986465 3986465 single base substitution C T upstream_gene_variant ESCA-CN 12 3921402 3921402 single base substitution C T 3_prime_UTR_variant ESCA-CN 12 3921402 3921402 single base substitution C T intron_variant ESCA-CN 12 3921402 3921402 single base substitution C T missense_variant G221R 661G>A ESCA-CN 12 3921402 3921402 single base substitution C T missense_variant G302R 904G>A ESCA-CN 12 3949498 3949498 single base substitution T A intron_variant ESCA-CN 12 3950576 3950576 single base substitution T G intron_variant ESCA-CN 12 3953918 3953918 single base substitution T C intron_variant KIRC-US 12 3921406 3921406 single base substitution T C 3_prime_UTR_variant KIRC-US 12 3921406 3921406 single base substitution T C intron_variant KIRC-US 12 3921406 3921406 single base substitution T C synonymous_variant K219K 657A>G KIRC-US 12 3921406 3921406 single base substitution T C synonymous_variant K300K 900A>G KIRC-US 12 3939160 3939160 single base substitution A T 5_prime_UTR_variant KIRC-US 12 3939160 3939160 single base substitution A T exon_variant KIRC-US 12 3939160 3939160 single base substitution A T missense_variant L15I 43T>A KIRC-US 12 3939160 3939160 single base substitution A T missense_variant L8I 22T>A LAML-KR 12 3919807 3919807 single base substitution G A 3_prime_UTR_variant LAML-KR 12 3919807 3919807 single base substitution G A downstream_gene_variant LAML-KR 12 3919807 3919807 single base substitution G A intron_variant LAML-KR 12 3934287 3934287 single base substitution C T downstream_gene_variant LAML-KR 12 3934287 3934287 single base substitution C T intron_variant LAML-KR 12 3934287 3934287 single base substitution C T upstream_gene_variant LICA-FR 12 3896477 3896477 single base substitution C T downstream_gene_variant LICA-FR 12 3915164 3915164 single base substitution C T downstream_gene_variant LICA-FR 12 3915164 3915164 single base substitution C T intron_variant LICA-FR 12 3925874 3925874 single base substitution G C intron_variant LICA-FR 12 3960228 3960228 single base substitution C T intron_variant LICA-FR 12 3982114 3982114 single base substitution G C intron_variant LIHC-US 12 3931251 3931251 single base substitution C A missense_variant Q132H 396G>T LIHC-US 12 3931251 3931251 single base substitution C A missense_variant Q139H 417G>T LIHC-US 12 3931251 3931251 single base substitution C A missense_variant Q58H 174G>T LIHC-US 12 3931251 3931251 single base substitution C A splice_region_variant LIHC-US 12 3931251 3931251 single base substitution C A upstream_gene_variant LIHC-US 12 3939151 3939151 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 12 3939151 3939151 single base substitution T C exon_variant LIHC-US 12 3939151 3939151 single base substitution T C missense_variant K11E 31A>G LIHC-US 12 3939151 3939151 single base substitution T C missense_variant K18E 52A>G LIHC-US 12 3939168 3939168 single base substitution G C 5_prime_UTR_variant LIHC-US 12 3939168 3939168 single base substitution G C exon_variant LIHC-US 12 3939168 3939168 single base substitution G C missense_variant A12G 35C>G LIHC-US 12 3939168 3939168 single base substitution G C missense_variant A5G 14C>G LINC-JP 12 3901814 3901814 deletion of <=200bp A - intron_variant LINC-JP 12 3916438 3916438 single base substitution G A downstream_gene_variant LINC-JP 12 3916438 3916438 single base substitution G A intron_variant LINC-JP 12 3921585 3921585 single base substitution C T 3_prime_UTR_variant LINC-JP 12 3921585 3921585 single base substitution C T intron_variant LINC-JP 12 3921585 3921585 single base substitution C T missense_variant A160T 478G>A LINC-JP 12 3921585 3921585 single base substitution C T missense_variant A241T 721G>A LINC-JP 12 3941226 3941226 single base substitution T C intron_variant LINC-JP 12 3962123 3962123 single base substitution G A intron_variant LINC-JP 12 3982529 3982529 single base substitution C T 5_prime_UTR_variant LINC-JP 12 3982529 3982529 single base substitution C T upstream_gene_variant LINC-JP 12 3982659 3982659 single base substitution A G upstream_gene_variant LINC-JP 12 3983477 3983477 single base substitution C T upstream_gene_variant LIRI-JP 12 3895596 3895596 single base substitution T C downstream_gene_variant LIRI-JP 12 3897286 3897286 single base substitution A G downstream_gene_variant LIRI-JP 12 3900224 3900224 single base substitution G C 3_prime_UTR_variant LIRI-JP 12 3903041 3903041 single base substitution C T intron_variant LIRI-JP 12 3904781 3904781 single base substitution A T intron_variant LIRI-JP 12 3907758 3907758 single base substitution T C intron_variant LIRI-JP 12 3907877 3907877 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 3908580 3908580 single base substitution T G intron_variant LIRI-JP 12 3913078 3913078 single base substitution T C downstream_gene_variant LIRI-JP 12 3913078 3913078 single base substitution T C intron_variant LIRI-JP 12 3913944 3913944 single base substitution C T downstream_gene_variant LIRI-JP 12 3913944 3913944 single base substitution C T intron_variant LIRI-JP 12 3916359 3916359 single base substitution T C downstream_gene_variant LIRI-JP 12 3916359 3916359 single base substitution T C intron_variant LIRI-JP 12 3918070 3918070 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 3918070 3918070 single base substitution C A downstream_gene_variant LIRI-JP 12 3918070 3918070 single base substitution C A intron_variant LIRI-JP 12 3919372 3919372 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 3919372 3919372 single base substitution T C downstream_gene_variant LIRI-JP 12 3919372 3919372 single base substitution T C intron_variant LIRI-JP 12 3919396 3919396 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 12 3919396 3919396 deletion of <=200bp G - downstream_gene_variant LIRI-JP 12 3919396 3919396 deletion of <=200bp G - intron_variant LIRI-JP 12 3919434 3919434 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 3919434 3919434 single base substitution T C downstream_gene_variant LIRI-JP 12 3919434 3919434 single base substitution T C intron_variant LIRI-JP 12 3920147 3920147 single base substitution T A 3_prime_UTR_variant LIRI-JP 12 3920147 3920147 single base substitution T A downstream_gene_variant LIRI-JP 12 3920147 3920147 single base substitution T A intron_variant LIRI-JP 12 3922694 3922694 single base substitution G T intron_variant LIRI-JP 12 3924363 3924363 single base substitution C T intron_variant LIRI-JP 12 3924784 3924784 single base substitution T A intron_variant LIRI-JP 12 3924953 3924953 single base substitution T A intron_variant LIRI-JP 12 3927979 3927979 single base substitution T C intron_variant LIRI-JP 12 3930824 3930824 single base substitution G T intron_variant LIRI-JP 12 3930859 3930859 single base substitution A T intron_variant LIRI-JP 12 3930910 3930910 single base substitution C T intron_variant LIRI-JP 12 3934122 3934122 single base substitution C T downstream_gene_variant LIRI-JP 12 3934122 3934122 single base substitution C T intron_variant LIRI-JP 12 3934122 3934122 single base substitution C T upstream_gene_variant LIRI-JP 12 3935654 3935654 single base substitution A G downstream_gene_variant LIRI-JP 12 3935654 3935654 single base substitution A G intron_variant LIRI-JP 12 3935654 3935654 single base substitution A G upstream_gene_variant LIRI-JP 12 3935760 3935760 single base substitution T C downstream_gene_variant LIRI-JP 12 3935760 3935760 single base substitution T C intron_variant LIRI-JP 12 3935760 3935760 single base substitution T C upstream_gene_variant LIRI-JP 12 3937891 3937891 single base substitution C T downstream_gene_variant LIRI-JP 12 3937891 3937891 single base substitution C T intron_variant LIRI-JP 12 3940398 3940398 single base substitution G T intron_variant LIRI-JP 12 3941495 3941495 single base substitution G A intron_variant LIRI-JP 12 3943672 3943672 single base substitution C T intron_variant LIRI-JP 12 3944362 3944362 single base substitution A G intron_variant LIRI-JP 12 3947790 3947790 single base substitution T C intron_variant LIRI-JP 12 3947861 3947861 single base substitution G T intron_variant LIRI-JP 12 3950958 3950958 single base substitution C A intron_variant LIRI-JP 12 3952313 3952313 single base substitution G C intron_variant LIRI-JP 12 3953243 3953243 single base substitution A G intron_variant LIRI-JP 12 3957354 3957354 single base substitution T C intron_variant LIRI-JP 12 3958180 3958180 single base substitution G A intron_variant LIRI-JP 12 3958631 3958631 single base substitution C T intron_variant LIRI-JP 12 3958673 3958673 single base substitution T C intron_variant LIRI-JP 12 3960624 3960624 single base substitution T C intron_variant LIRI-JP 12 3965081 3965081 single base substitution G A intron_variant LIRI-JP 12 3968589 3968589 single base substitution C T intron_variant LIRI-JP 12 3970509 3970509 single base substitution T C intron_variant LIRI-JP 12 3971723 3971723 single base substitution T C intron_variant LIRI-JP 12 3975863 3975863 single base substitution A G intron_variant LIRI-JP 12 3978193 3978193 single base substitution T A intron_variant LIRI-JP 12 3979946 3979946 single base substitution G A intron_variant LIRI-JP 12 3980550 3980550 single base substitution T G intron_variant LIRI-JP 12 3982157 3982157 insertion of <=200bp - A intron_variant LIRI-JP 12 3983612 3983612 single base substitution A G upstream_gene_variant LIRI-JP 12 3986615 3986615 single base substitution G A upstream_gene_variant LIRI-JP 12 3987051 3987051 single base substitution A G upstream_gene_variant LUSC-KR 12 3898096 3898096 single base substitution A T downstream_gene_variant LUSC-KR 12 3901373 3901373 single base substitution C A intron_variant LUSC-KR 12 3903861 3903861 single base substitution T C intron_variant LUSC-KR 12 3908949 3908949 single base substitution G A intron_variant LUSC-KR 12 3914319 3914319 single base substitution T A downstream_gene_variant LUSC-KR 12 3914319 3914319 single base substitution T A intron_variant LUSC-KR 12 3920210 3920210 single base substitution G T 3_prime_UTR_variant LUSC-KR 12 3920210 3920210 single base substitution G T downstream_gene_variant LUSC-KR 12 3920210 3920210 single base substitution G T intron_variant LUSC-KR 12 3923498 3923498 single base substitution G C intron_variant LUSC-KR 12 3924599 3924599 single base substitution C G intron_variant LUSC-KR 12 3926705 3926705 single base substitution C A intron_variant LUSC-KR 12 3931268 3931268 single base substitution T C 3_prime_UTR_variant LUSC-KR 12 3931268 3931268 single base substitution T C exon_variant LUSC-KR 12 3931268 3931268 single base substitution T C missense_variant T127A 379A>G LUSC-KR 12 3931268 3931268 single base substitution T C missense_variant T134A 400A>G LUSC-KR 12 3931268 3931268 single base substitution T C missense_variant T53A 157A>G LUSC-KR 12 3931268 3931268 single base substitution T C upstream_gene_variant LUSC-KR 12 3934585 3934585 single base substitution T A downstream_gene_variant LUSC-KR 12 3934585 3934585 single base substitution T A intron_variant LUSC-KR 12 3934585 3934585 single base substitution T A upstream_gene_variant LUSC-KR 12 3941071 3941071 single base substitution G C intron_variant LUSC-KR 12 3943097 3943097 single base substitution C T intron_variant LUSC-KR 12 3945881 3945881 single base substitution T C intron_variant LUSC-KR 12 3949498 3949498 single base substitution T A intron_variant LUSC-KR 12 3951122 3951122 single base substitution G C intron_variant LUSC-KR 12 3951194 3951194 single base substitution C T intron_variant LUSC-KR 12 3953918 3953918 single base substitution T C intron_variant LUSC-KR 12 3955764 3955764 single base substitution T C intron_variant LUSC-KR 12 3959174 3959174 single base substitution T A intron_variant LUSC-KR 12 3961768 3961768 single base substitution G T intron_variant LUSC-KR 12 3963633 3963633 single base substitution C T intron_variant LUSC-KR 12 3966298 3966298 single base substitution T G intron_variant LUSC-KR 12 3970294 3970294 single base substitution C T intron_variant LUSC-KR 12 3974849 3974849 single base substitution T C intron_variant LUSC-KR 12 3975068 3975068 single base substitution G T intron_variant LUSC-KR 12 3975790 3975790 single base substitution T C intron_variant LUSC-KR 12 3975800 3975800 single base substitution T C intron_variant LUSC-KR 12 3983231 3983231 single base substitution C A upstream_gene_variant LUSC-US 12 3921356 3921356 single base substitution T A 3_prime_UTR_variant LUSC-US 12 3921356 3921356 single base substitution T A intron_variant LUSC-US 12 3921356 3921356 single base substitution T A missense_variant N236I 707A>T LUSC-US 12 3921356 3921356 single base substitution T A missense_variant N317I 950A>T LUSC-US 12 3931253 3931253 single base substitution G A splice_region_variant LUSC-US 12 3931253 3931253 single base substitution G A stop_gained Q132* 394C>T LUSC-US 12 3931253 3931253 single base substitution G A stop_gained Q139* 415C>T LUSC-US 12 3931253 3931253 single base substitution G A stop_gained Q58* 172C>T LUSC-US 12 3931253 3931253 single base substitution G A upstream_gene_variant MALY-DE 12 3895431 3895431 single base substitution T G downstream_gene_variant MALY-DE 12 3910727 3910727 deletion of <=200bp T - intron_variant MALY-DE 12 3912648 3912648 single base substitution A G downstream_gene_variant MALY-DE 12 3912648 3912648 single base substitution A G intron_variant MALY-DE 12 3912703 3912703 single base substitution A G downstream_gene_variant MALY-DE 12 3912703 3912703 single base substitution A G intron_variant MALY-DE 12 3917427 3917427 single base substitution C T downstream_gene_variant MALY-DE 12 3917427 3917427 single base substitution C T intron_variant MALY-DE 12 3920073 3920073 single base substitution C T 3_prime_UTR_variant MALY-DE 12 3920073 3920073 single base substitution C T downstream_gene_variant MALY-DE 12 3920073 3920073 single base substitution C T intron_variant MALY-DE 12 3925043 3925043 single base substitution A G intron_variant MALY-DE 12 3925475 3925475 single base substitution G A intron_variant MALY-DE 12 3932740 3932740 single base substitution G T intron_variant MALY-DE 12 3932740 3932740 single base substitution G T upstream_gene_variant MALY-DE 12 3937834 3937834 single base substitution A G downstream_gene_variant MALY-DE 12 3937834 3937834 single base substitution A G intron_variant MALY-DE 12 3941129 3941129 single base substitution T A intron_variant MALY-DE 12 3945388 3945388 single base substitution T G intron_variant MALY-DE 12 3946405 3946405 single base substitution G A intron_variant MALY-DE 12 3947649 3947649 single base substitution G A intron_variant MALY-DE 12 3952121 3952121 single base substitution T G intron_variant MALY-DE 12 3956894 3956894 single base substitution A G intron_variant MALY-DE 12 3957895 3957895 single base substitution A G intron_variant MALY-DE 12 3963498 3963498 single base substitution A T intron_variant MALY-DE 12 3973823 3973823 single base substitution T G intron_variant MALY-DE 12 3985448 3985448 single base substitution G A upstream_gene_variant MALY-DE 12 3985716 3985716 single base substitution C T upstream_gene_variant MALY-DE 12 3985762 3985762 single base substitution T A upstream_gene_variant MELA-AU 12 3895381 3895381 single base substitution T A downstream_gene_variant MELA-AU 12 3896033 3896033 single base substitution T A downstream_gene_variant MELA-AU 12 3896083 3896083 single base substitution G A downstream_gene_variant MELA-AU 12 3896213 3896213 single base substitution C T downstream_gene_variant MELA-AU 12 3896228 3896228 single base substitution C T downstream_gene_variant MELA-AU 12 3896365 3896365 single base substitution G A downstream_gene_variant MELA-AU 12 3896407 3896407 single base substitution G A downstream_gene_variant MELA-AU 12 3896665 3896665 single base substitution G A downstream_gene_variant MELA-AU 12 3897353 3897354 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 3897680 3897680 single base substitution C T downstream_gene_variant MELA-AU 12 3897762 3897763 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 3898297 3898297 single base substitution G A downstream_gene_variant MELA-AU 12 3898719 3898719 single base substitution G A downstream_gene_variant MELA-AU 12 3898820 3898820 single base substitution C T downstream_gene_variant MELA-AU 12 3899254 3899254 single base substitution C T downstream_gene_variant MELA-AU 12 3899326 3899326 single base substitution G A downstream_gene_variant MELA-AU 12 3899695 3899695 single base substitution C T downstream_gene_variant MELA-AU 12 3900008 3900008 single base substitution G A downstream_gene_variant MELA-AU 12 3901175 3901175 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3901276 3901276 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3901298 3901298 single base substitution C T 3_prime_UTR_variant MELA-AU 12 3901859 3901859 single base substitution G A intron_variant MELA-AU 12 3901866 3901866 single base substitution G A intron_variant MELA-AU 12 3902037 3902037 single base substitution G A intron_variant MELA-AU 12 3902253 3902253 single base substitution G A intron_variant MELA-AU 12 3902586 3902586 single base substitution G A intron_variant MELA-AU 12 3902587 3902587 single base substitution A C intron_variant MELA-AU 12 3902634 3902634 single base substitution C T intron_variant MELA-AU 12 3903020 3903020 single base substitution G A intron_variant MELA-AU 12 3903059 3903059 single base substitution G A intron_variant MELA-AU 12 3903559 3903559 single base substitution C T intron_variant MELA-AU 12 3904125 3904125 single base substitution G A intron_variant MELA-AU 12 3904360 3904360 single base substitution G A intron_variant MELA-AU 12 3904395 3904395 single base substitution A T intron_variant MELA-AU 12 3904456 3904456 single base substitution G A intron_variant MELA-AU 12 3904581 3904581 single base substitution G A intron_variant MELA-AU 12 3904737 3904737 single base substitution C T intron_variant MELA-AU 12 3904887 3904887 single base substitution G A intron_variant MELA-AU 12 3905108 3905108 single base substitution G A intron_variant MELA-AU 12 3905219 3905219 single base substitution C T intron_variant MELA-AU 12 3905352 3905353 multiple base substitution (>=2bp and <=200bp) AA TC intron_variant MELA-AU 12 3905630 3905630 single base substitution A G intron_variant MELA-AU 12 3905645 3905645 single base substitution G A intron_variant MELA-AU 12 3906342 3906342 single base substitution G A intron_variant MELA-AU 12 3907261 3907261 single base substitution G A intron_variant MELA-AU 12 3908241 3908241 single base substitution G A intron_variant MELA-AU 12 3908275 3908275 single base substitution A C intron_variant MELA-AU 12 3908332 3908332 single base substitution G A intron_variant MELA-AU 12 3908535 3908535 single base substitution T A intron_variant MELA-AU 12 3908786 3908786 single base substitution C T intron_variant MELA-AU 12 3909473 3909473 single base substitution A G intron_variant MELA-AU 12 3910776 3910776 single base substitution C T intron_variant MELA-AU 12 3910974 3910974 single base substitution G A intron_variant MELA-AU 12 3911189 3911189 single base substitution A T intron_variant MELA-AU 12 3911682 3911682 single base substitution G A downstream_gene_variant MELA-AU 12 3911682 3911682 single base substitution G A intron_variant MELA-AU 12 3911688 3911688 single base substitution G A downstream_gene_variant MELA-AU 12 3911688 3911688 single base substitution G A intron_variant MELA-AU 12 3911738 3911738 single base substitution C T downstream_gene_variant MELA-AU 12 3911738 3911738 single base substitution C T intron_variant MELA-AU 12 3912711 3912711 single base substitution G A downstream_gene_variant MELA-AU 12 3912711 3912711 single base substitution G A intron_variant MELA-AU 12 3912771 3912771 single base substitution G A downstream_gene_variant MELA-AU 12 3912771 3912771 single base substitution G A intron_variant MELA-AU 12 3912891 3912891 single base substitution G A downstream_gene_variant MELA-AU 12 3912891 3912891 single base substitution G A intron_variant MELA-AU 12 3912943 3912943 single base substitution G A downstream_gene_variant MELA-AU 12 3912943 3912943 single base substitution G A intron_variant MELA-AU 12 3913072 3913072 single base substitution G A downstream_gene_variant MELA-AU 12 3913072 3913072 single base substitution G A intron_variant MELA-AU 12 3913380 3913380 single base substitution T A downstream_gene_variant MELA-AU 12 3913380 3913380 single base substitution T A intron_variant MELA-AU 12 3914014 3914014 single base substitution G A downstream_gene_variant MELA-AU 12 3914014 3914014 single base substitution G A intron_variant MELA-AU 12 3914098 3914098 single base substitution A G downstream_gene_variant MELA-AU 12 3914098 3914098 single base substitution A G intron_variant MELA-AU 12 3914578 3914578 single base substitution G A downstream_gene_variant MELA-AU 12 3914578 3914578 single base substitution G A intron_variant MELA-AU 12 3914843 3914843 single base substitution T C downstream_gene_variant MELA-AU 12 3914843 3914843 single base substitution T C intron_variant MELA-AU 12 3915135 3915135 single base substitution G A downstream_gene_variant MELA-AU 12 3915135 3915135 single base substitution G A intron_variant MELA-AU 12 3915150 3915150 single base substitution G A downstream_gene_variant MELA-AU 12 3915150 3915150 single base substitution G A intron_variant MELA-AU 12 3916019 3916019 single base substitution C T downstream_gene_variant MELA-AU 12 3916019 3916019 single base substitution C T intron_variant MELA-AU 12 3916192 3916192 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3916192 3916192 single base substitution G A downstream_gene_variant MELA-AU 12 3916519 3916520 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 3916519 3916520 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 3916799 3916799 single base substitution G A downstream_gene_variant MELA-AU 12 3916799 3916799 single base substitution G A intron_variant MELA-AU 12 3917334 3917334 single base substitution G A downstream_gene_variant MELA-AU 12 3917334 3917334 single base substitution G A intron_variant MELA-AU 12 3917387 3917387 single base substitution C T downstream_gene_variant MELA-AU 12 3917387 3917387 single base substitution C T intron_variant MELA-AU 12 3917437 3917438 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 3917437 3917438 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 3917444 3917444 single base substitution G A downstream_gene_variant MELA-AU 12 3917444 3917444 single base substitution G A intron_variant MELA-AU 12 3917592 3917592 single base substitution G A downstream_gene_variant MELA-AU 12 3917592 3917592 single base substitution G A intron_variant MELA-AU 12 3917627 3917627 single base substitution G A downstream_gene_variant MELA-AU 12 3917627 3917627 single base substitution G A intron_variant MELA-AU 12 3917874 3917874 single base substitution C T downstream_gene_variant MELA-AU 12 3917874 3917874 single base substitution C T intron_variant MELA-AU 12 3918731 3918731 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3918731 3918731 single base substitution G A downstream_gene_variant MELA-AU 12 3918731 3918731 single base substitution G A intron_variant MELA-AU 12 3918873 3918873 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3918873 3918873 single base substitution G A downstream_gene_variant MELA-AU 12 3918873 3918873 single base substitution G A intron_variant MELA-AU 12 3919369 3919369 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3919369 3919369 single base substitution G A downstream_gene_variant MELA-AU 12 3919369 3919369 single base substitution G A intron_variant MELA-AU 12 3919370 3919370 single base substitution G C 3_prime_UTR_variant MELA-AU 12 3919370 3919370 single base substitution G C downstream_gene_variant MELA-AU 12 3919370 3919370 single base substitution G C intron_variant MELA-AU 12 3919649 3919649 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3919649 3919649 single base substitution G A downstream_gene_variant MELA-AU 12 3919649 3919649 single base substitution G A intron_variant MELA-AU 12 3919797 3919797 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3919797 3919797 single base substitution G A downstream_gene_variant MELA-AU 12 3919797 3919797 single base substitution G A intron_variant MELA-AU 12 3919840 3919840 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3919840 3919840 single base substitution G A downstream_gene_variant MELA-AU 12 3919840 3919840 single base substitution G A intron_variant MELA-AU 12 3920366 3920366 single base substitution A T 3_prime_UTR_variant MELA-AU 12 3920366 3920366 single base substitution A T downstream_gene_variant MELA-AU 12 3920366 3920366 single base substitution A T intron_variant MELA-AU 12 3920770 3920771 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 12 3920770 3920771 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 3920770 3920771 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 3921285 3921285 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3921285 3921285 single base substitution G A downstream_gene_variant MELA-AU 12 3921285 3921285 single base substitution G A intron_variant MELA-AU 12 3921543 3921543 single base substitution C T 3_prime_UTR_variant MELA-AU 12 3921543 3921543 single base substitution C T intron_variant MELA-AU 12 3921543 3921543 single base substitution C T missense_variant G174R 520G>A MELA-AU 12 3921543 3921543 single base substitution C T missense_variant G255R 763G>A MELA-AU 12 3922001 3922001 single base substitution C T intron_variant MELA-AU 12 3922049 3922049 single base substitution A G intron_variant MELA-AU 12 3922081 3922081 single base substitution C T intron_variant MELA-AU 12 3922293 3922293 single base substitution C A intron_variant MELA-AU 12 3922323 3922323 single base substitution C A intron_variant MELA-AU 12 3922392 3922392 single base substitution G A intron_variant MELA-AU 12 3922654 3922654 single base substitution G A intron_variant MELA-AU 12 3924284 3924284 single base substitution G A intron_variant MELA-AU 12 3924356 3924356 single base substitution G A intron_variant MELA-AU 12 3925740 3925740 single base substitution C T intron_variant MELA-AU 12 3925747 3925747 single base substitution G C intron_variant MELA-AU 12 3925887 3925887 single base substitution G A intron_variant MELA-AU 12 3926044 3926044 single base substitution G A intron_variant MELA-AU 12 3926117 3926117 single base substitution G A intron_variant MELA-AU 12 3926150 3926150 single base substitution G A intron_variant MELA-AU 12 3926334 3926334 single base substitution G T intron_variant MELA-AU 12 3926475 3926475 single base substitution G A intron_variant MELA-AU 12 3926640 3926640 single base substitution G A intron_variant MELA-AU 12 3926732 3926732 single base substitution G A intron_variant MELA-AU 12 3926738 3926738 single base substitution C A intron_variant MELA-AU 12 3926940 3926940 single base substitution G A intron_variant MELA-AU 12 3927004 3927004 single base substitution G A intron_variant MELA-AU 12 3927610 3927610 single base substitution G A intron_variant MELA-AU 12 3927712 3927712 single base substitution G A intron_variant MELA-AU 12 3927895 3927895 single base substitution G A intron_variant MELA-AU 12 3928497 3928515 deletion of <=200bp TTTCCTAAACTGGTCTCTC - intron_variant MELA-AU 12 3929765 3929765 single base substitution G A intron_variant MELA-AU 12 3929827 3929827 single base substitution G A intron_variant MELA-AU 12 3930266 3930266 single base substitution G A intron_variant MELA-AU 12 3930549 3930549 single base substitution T A intron_variant MELA-AU 12 3930691 3930691 single base substitution A C intron_variant MELA-AU 12 3931162 3931162 single base substitution G A 3_prime_UTR_variant MELA-AU 12 3931162 3931162 single base substitution G A exon_variant MELA-AU 12 3931162 3931162 single base substitution G A missense_variant P135L 404C>T MELA-AU 12 3931162 3931162 single base substitution G A missense_variant P142L 425C>T MELA-AU 12 3931162 3931162 single base substitution G A missense_variant P61L 182C>T MELA-AU 12 3931162 3931162 single base substitution G A upstream_gene_variant MELA-AU 12 3931216 3931216 single base substitution C T intron_variant MELA-AU 12 3931216 3931216 single base substitution C T upstream_gene_variant MELA-AU 12 3931393 3931393 single base substitution C T intron_variant MELA-AU 12 3931393 3931393 single base substitution C T upstream_gene_variant MELA-AU 12 3931402 3931402 single base substitution T C intron_variant MELA-AU 12 3931402 3931402 single base substitution T C upstream_gene_variant MELA-AU 12 3932074 3932074 single base substitution C T intron_variant MELA-AU 12 3932074 3932074 single base substitution C T upstream_gene_variant MELA-AU 12 3932135 3932135 single base substitution G A intron_variant MELA-AU 12 3932135 3932135 single base substitution G A upstream_gene_variant MELA-AU 12 3932346 3932346 single base substitution G A intron_variant MELA-AU 12 3932346 3932346 single base substitution G A upstream_gene_variant MELA-AU 12 3933008 3933008 single base substitution G A intron_variant MELA-AU 12 3933008 3933008 single base substitution G A upstream_gene_variant MELA-AU 12 3933326 3933326 single base substitution G T downstream_gene_variant MELA-AU 12 3933326 3933326 single base substitution G T intron_variant MELA-AU 12 3933326 3933326 single base substitution G T upstream_gene_variant MELA-AU 12 3933507 3933507 single base substitution A T downstream_gene_variant MELA-AU 12 3933507 3933507 single base substitution A T intron_variant MELA-AU 12 3933507 3933507 single base substitution A T upstream_gene_variant MELA-AU 12 3933529 3933529 single base substitution G A downstream_gene_variant MELA-AU 12 3933529 3933529 single base substitution G A intron_variant MELA-AU 12 3933529 3933529 single base substitution G A upstream_gene_variant MELA-AU 12 3933791 3933791 single base substitution C T downstream_gene_variant MELA-AU 12 3933791 3933791 single base substitution C T intron_variant MELA-AU 12 3933791 3933791 single base substitution C T upstream_gene_variant MELA-AU 12 3934181 3934189 deletion of <=200bp AAACTGACA - downstream_gene_variant MELA-AU 12 3934181 3934189 deletion of <=200bp AAACTGACA - intron_variant MELA-AU 12 3934181 3934189 deletion of <=200bp AAACTGACA - upstream_gene_variant MELA-AU 12 3934390 3934390 single base substitution C T downstream_gene_variant MELA-AU 12 3934390 3934390 single base substitution C T intron_variant MELA-AU 12 3934390 3934390 single base substitution C T upstream_gene_variant MELA-AU 12 3934626 3934626 single base substitution T G downstream_gene_variant MELA-AU 12 3934626 3934626 single base substitution T G intron_variant MELA-AU 12 3934626 3934626 single base substitution T G upstream_gene_variant MELA-AU 12 3934809 3934809 single base substitution G A downstream_gene_variant MELA-AU 12 3934809 3934809 single base substitution G A intron_variant MELA-AU 12 3934809 3934809 single base substitution G A upstream_gene_variant MELA-AU 12 3934876 3934876 single base substitution G A downstream_gene_variant MELA-AU 12 3934876 3934876 single base substitution G A intron_variant MELA-AU 12 3934876 3934876 single base substitution G A upstream_gene_variant MELA-AU 12 3935109 3935109 single base substitution G A downstream_gene_variant MELA-AU 12 3935109 3935109 single base substitution G A intron_variant MELA-AU 12 3935109 3935109 single base substitution G A upstream_gene_variant MELA-AU 12 3935243 3935243 single base substitution T A downstream_gene_variant MELA-AU 12 3935243 3935243 single base substitution T A intron_variant MELA-AU 12 3935243 3935243 single base substitution T A upstream_gene_variant MELA-AU 12 3935421 3935421 single base substitution T A downstream_gene_variant MELA-AU 12 3935421 3935421 single base substitution T A intron_variant MELA-AU 12 3935421 3935421 single base substitution T A upstream_gene_variant MELA-AU 12 3935461 3935461 single base substitution G A downstream_gene_variant MELA-AU 12 3935461 3935461 single base substitution G A intron_variant MELA-AU 12 3935461 3935461 single base substitution G A upstream_gene_variant MELA-AU 12 3935576 3935576 single base substitution G A downstream_gene_variant MELA-AU 12 3935576 3935576 single base substitution G A intron_variant MELA-AU 12 3935576 3935576 single base substitution G A upstream_gene_variant MELA-AU 12 3935789 3935789 single base substitution G A downstream_gene_variant MELA-AU 12 3935789 3935789 single base substitution G A intron_variant MELA-AU 12 3935789 3935789 single base substitution G A upstream_gene_variant MELA-AU 12 3935809 3935809 single base substitution C T downstream_gene_variant MELA-AU 12 3935809 3935809 single base substitution C T intron_variant MELA-AU 12 3935809 3935809 single base substitution C T upstream_gene_variant MELA-AU 12 3935956 3935956 single base substitution G A downstream_gene_variant MELA-AU 12 3935956 3935956 single base substitution G A intron_variant MELA-AU 12 3935956 3935956 single base substitution G A upstream_gene_variant MELA-AU 12 3937021 3937021 single base substitution G A downstream_gene_variant MELA-AU 12 3937021 3937021 single base substitution G A intron_variant MELA-AU 12 3937446 3937446 single base substitution G A downstream_gene_variant MELA-AU 12 3937446 3937446 single base substitution G A intron_variant MELA-AU 12 3939017 3939017 single base substitution A T intron_variant MELA-AU 12 3939530 3939530 single base substitution G A intron_variant MELA-AU 12 3940736 3940737 deletion of <=200bp GA - intron_variant MELA-AU 12 3941142 3941142 single base substitution G A intron_variant MELA-AU 12 3941510 3941510 single base substitution G A intron_variant MELA-AU 12 3941605 3941605 single base substitution C T intron_variant MELA-AU 12 3941660 3941660 single base substitution C T intron_variant MELA-AU 12 3942228 3942228 single base substitution A G intron_variant MELA-AU 12 3942488 3942488 single base substitution G A intron_variant MELA-AU 12 3942866 3942866 single base substitution G A intron_variant MELA-AU 12 3943103 3943103 single base substitution A C intron_variant MELA-AU 12 3943349 3943349 single base substitution G A intron_variant MELA-AU 12 3943743 3943743 single base substitution T C intron_variant MELA-AU 12 3943999 3943999 single base substitution C T intron_variant MELA-AU 12 3944457 3944457 single base substitution G A intron_variant MELA-AU 12 3944501 3944501 single base substitution G A intron_variant MELA-AU 12 3944584 3944584 single base substitution G A intron_variant MELA-AU 12 3944797 3944797 single base substitution A G intron_variant MELA-AU 12 3944880 3944880 single base substitution G A intron_variant MELA-AU 12 3944881 3944881 single base substitution G A intron_variant MELA-AU 12 3945095 3945095 single base substitution T C intron_variant MELA-AU 12 3945694 3945694 single base substitution G A intron_variant MELA-AU 12 3945932 3945932 single base substitution C T intron_variant MELA-AU 12 3945946 3945946 single base substitution G A intron_variant MELA-AU 12 3946058 3946058 single base substitution G A intron_variant MELA-AU 12 3947314 3947314 single base substitution G A intron_variant MELA-AU 12 3947922 3947922 single base substitution C T intron_variant MELA-AU 12 3947960 3947960 single base substitution G A intron_variant MELA-AU 12 3947998 3947998 single base substitution G A intron_variant MELA-AU 12 3948492 3948492 single base substitution G A intron_variant MELA-AU 12 3948710 3948710 single base substitution G A intron_variant MELA-AU 12 3949002 3949002 single base substitution A G intron_variant MELA-AU 12 3950389 3950389 single base substitution C T intron_variant MELA-AU 12 3950741 3950741 single base substitution G T intron_variant MELA-AU 12 3951018 3951018 single base substitution C T intron_variant MELA-AU 12 3952126 3952126 single base substitution A G intron_variant MELA-AU 12 3952256 3952256 single base substitution A T intron_variant MELA-AU 12 3952459 3952459 single base substitution G A intron_variant MELA-AU 12 3952576 3952576 single base substitution A C intron_variant MELA-AU 12 3953886 3953886 single base substitution G A intron_variant MELA-AU 12 3954461 3954461 single base substitution A G intron_variant MELA-AU 12 3954967 3954967 single base substitution G A intron_variant MELA-AU 12 3955073 3955073 single base substitution T G intron_variant MELA-AU 12 3955140 3955140 single base substitution G A intron_variant MELA-AU 12 3955678 3955678 single base substitution T C intron_variant MELA-AU 12 3955685 3955685 single base substitution G A intron_variant MELA-AU 12 3955820 3955820 single base substitution G A intron_variant MELA-AU 12 3956150 3956150 single base substitution G A intron_variant MELA-AU 12 3956285 3956285 single base substitution G A intron_variant MELA-AU 12 3956363 3956363 single base substitution G A intron_variant MELA-AU 12 3956387 3956387 single base substitution C T intron_variant MELA-AU 12 3956893 3956893 single base substitution A C intron_variant MELA-AU 12 3957026 3957026 single base substitution G A intron_variant MELA-AU 12 3957046 3957046 single base substitution C T intron_variant MELA-AU 12 3957277 3957277 single base substitution G A intron_variant MELA-AU 12 3957605 3957605 single base substitution G A intron_variant MELA-AU 12 3957756 3957756 single base substitution T A intron_variant MELA-AU 12 3958520 3958520 single base substitution C T intron_variant MELA-AU 12 3958578 3958578 single base substitution C T intron_variant MELA-AU 12 3958720 3958720 single base substitution G A intron_variant MELA-AU 12 3958849 3958849 single base substitution G A intron_variant MELA-AU 12 3958895 3958895 single base substitution G A intron_variant MELA-AU 12 3958994 3958994 single base substitution G A intron_variant MELA-AU 12 3959025 3959025 single base substitution G A intron_variant MELA-AU 12 3959055 3959055 single base substitution T C intron_variant MELA-AU 12 3959630 3959630 single base substitution G A intron_variant MELA-AU 12 3959909 3959909 single base substitution G A intron_variant MELA-AU 12 3959926 3959926 single base substitution T C intron_variant MELA-AU 12 3960292 3960292 single base substitution G A intron_variant MELA-AU 12 3960503 3960503 single base substitution G A intron_variant MELA-AU 12 3961025 3961025 single base substitution G A intron_variant MELA-AU 12 3961268 3961268 single base substitution G A intron_variant MELA-AU 12 3961342 3961342 single base substitution G A intron_variant MELA-AU 12 3961537 3961537 single base substitution G A intron_variant MELA-AU 12 3961713 3961713 single base substitution G A intron_variant MELA-AU 12 3961725 3961725 single base substitution G A intron_variant MELA-AU 12 3961848 3961848 single base substitution G A intron_variant MELA-AU 12 3962136 3962136 single base substitution G A intron_variant MELA-AU 12 3962177 3962177 single base substitution G A intron_variant MELA-AU 12 3962423 3962423 single base substitution A C intron_variant MELA-AU 12 3962957 3962957 single base substitution G A intron_variant MELA-AU 12 3963047 3963047 single base substitution G A intron_variant MELA-AU 12 3963371 3963371 single base substitution C T intron_variant MELA-AU 12 3963875 3963875 single base substitution G A intron_variant MELA-AU 12 3964227 3964227 single base substitution G A intron_variant MELA-AU 12 3964264 3964264 single base substitution A T intron_variant MELA-AU 12 3964434 3964434 single base substitution G A intron_variant MELA-AU 12 3964607 3964607 single base substitution G A intron_variant MELA-AU 12 3964930 3964930 single base substitution G A intron_variant MELA-AU 12 3965340 3965340 single base substitution G A intron_variant MELA-AU 12 3965522 3965522 single base substitution T C intron_variant MELA-AU 12 3965545 3965545 single base substitution G A intron_variant MELA-AU 12 3965547 3965547 single base substitution G A intron_variant MELA-AU 12 3966035 3966035 single base substitution G A intron_variant MELA-AU 12 3966036 3966036 single base substitution A C intron_variant MELA-AU 12 3966349 3966349 single base substitution G A intron_variant MELA-AU 12 3966363 3966363 single base substitution A C intron_variant MELA-AU 12 3966490 3966490 single base substitution G A intron_variant MELA-AU 12 3966817 3966817 single base substitution G A intron_variant MELA-AU 12 3967400 3967400 single base substitution A G intron_variant MELA-AU 12 3967463 3967463 single base substitution G A intron_variant MELA-AU 12 3967664 3967664 single base substitution G A intron_variant MELA-AU 12 3968705 3968705 single base substitution G A intron_variant MELA-AU 12 3968903 3968903 single base substitution G A intron_variant MELA-AU 12 3968933 3968933 single base substitution T C intron_variant MELA-AU 12 3969150 3969151 multiple base substitution (>=2bp and <=200bp) GT CA intron_variant MELA-AU 12 3969243 3969243 single base substitution A G intron_variant MELA-AU 12 3969348 3969348 single base substitution G A intron_variant MELA-AU 12 3969562 3969562 single base substitution G A intron_variant MELA-AU 12 3970164 3970164 single base substitution A C intron_variant MELA-AU 12 3970370 3970371 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 12 3971101 3971101 single base substitution G A intron_variant MELA-AU 12 3971291 3971291 single base substitution G A intron_variant MELA-AU 12 3971302 3971302 single base substitution G A intron_variant MELA-AU 12 3971676 3971676 single base substitution A T intron_variant MELA-AU 12 3971803 3971803 single base substitution G A intron_variant MELA-AU 12 3972599 3972599 single base substitution G A intron_variant MELA-AU 12 3973479 3973479 single base substitution A T intron_variant MELA-AU 12 3974192 3974192 single base substitution C T intron_variant MELA-AU 12 3975419 3975419 single base substitution G A intron_variant MELA-AU 12 3975686 3975686 single base substitution G A intron_variant MELA-AU 12 3976226 3976226 single base substitution G A intron_variant MELA-AU 12 3976489 3976489 single base substitution G A intron_variant MELA-AU 12 3976612 3976612 single base substitution T G intron_variant MELA-AU 12 3976718 3976718 single base substitution G A intron_variant MELA-AU 12 3976915 3976915 single base substitution G A intron_variant MELA-AU 12 3977080 3977080 single base substitution G A intron_variant MELA-AU 12 3977323 3977323 single base substitution T C intron_variant MELA-AU 12 3978011 3978011 single base substitution G A intron_variant MELA-AU 12 3978342 3978342 single base substitution G A intron_variant MELA-AU 12 3978574 3978574 single base substitution G A intron_variant MELA-AU 12 3979031 3979031 single base substitution G A intron_variant MELA-AU 12 3979309 3979309 single base substitution A C intron_variant MELA-AU 12 3979624 3979624 single base substitution G A intron_variant MELA-AU 12 3980816 3980816 single base substitution C T intron_variant MELA-AU 12 3980868 3980868 single base substitution C T intron_variant MELA-AU 12 3981003 3981003 single base substitution G T intron_variant MELA-AU 12 3981066 3981066 single base substitution C T intron_variant MELA-AU 12 3981088 3981088 single base substitution G A intron_variant MELA-AU 12 3982091 3982091 single base substitution C G intron_variant MELA-AU 12 3982460 3982460 single base substitution G A 5_prime_UTR_variant MELA-AU 12 3982635 3982636 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 3982899 3982899 single base substitution G A upstream_gene_variant MELA-AU 12 3983084 3983084 single base substitution G A upstream_gene_variant MELA-AU 12 3983257 3983257 single base substitution G A upstream_gene_variant MELA-AU 12 3983504 3983504 single base substitution A C upstream_gene_variant MELA-AU 12 3983638 3983638 single base substitution C T upstream_gene_variant MELA-AU 12 3983644 3983644 single base substitution C T upstream_gene_variant MELA-AU 12 3983651 3983651 single base substitution C T upstream_gene_variant MELA-AU 12 3983695 3983695 single base substitution G A upstream_gene_variant MELA-AU 12 3984202 3984202 single base substitution C T upstream_gene_variant MELA-AU 12 3984337 3984337 single base substitution C T upstream_gene_variant MELA-AU 12 3984409 3984409 single base substitution G A upstream_gene_variant MELA-AU 12 3984711 3984711 single base substitution C T upstream_gene_variant MELA-AU 12 3984868 3984868 single base substitution C T upstream_gene_variant MELA-AU 12 3985066 3985066 single base substitution T A upstream_gene_variant MELA-AU 12 3985087 3985087 single base substitution T C upstream_gene_variant MELA-AU 12 3985588 3985589 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 3985632 3985632 single base substitution G A upstream_gene_variant MELA-AU 12 3985646 3985646 single base substitution G A upstream_gene_variant MELA-AU 12 3985726 3985726 single base substitution G A upstream_gene_variant MELA-AU 12 3985898 3985898 single base substitution C T upstream_gene_variant MELA-AU 12 3985900 3985900 single base substitution G C upstream_gene_variant MELA-AU 12 3985931 3985931 single base substitution C T upstream_gene_variant MELA-AU 12 3986005 3986005 single base substitution C T upstream_gene_variant MELA-AU 12 3986259 3986259 single base substitution G A upstream_gene_variant MELA-AU 12 3986288 3986288 single base substitution C T upstream_gene_variant MELA-AU 12 3986324 3986336 deletion of <=200bp TAAATTTTTTGCT - upstream_gene_variant MELA-AU 12 3986331 3986331 single base substitution T C upstream_gene_variant MELA-AU 12 3986372 3986372 single base substitution C T upstream_gene_variant MELA-AU 12 3987113 3987113 single base substitution C T upstream_gene_variant MELA-AU 12 3987287 3987287 single base substitution G A upstream_gene_variant MELA-AU 12 3987452 3987452 single base substitution C T upstream_gene_variant ORCA-IN 12 3904673 3904674 multiple base substitution (>=2bp and <=200bp) TC CA intron_variant ORCA-IN 12 3915824 3915824 single base substitution G A downstream_gene_variant ORCA-IN 12 3915824 3915824 single base substitution G A intron_variant ORCA-IN 12 3932966 3932966 single base substitution C G intron_variant ORCA-IN 12 3932966 3932966 single base substitution C G upstream_gene_variant ORCA-IN 12 3940126 3940126 single base substitution T A intron_variant ORCA-IN 12 3945513 3945513 single base substitution C T intron_variant ORCA-IN 12 3954045 3954045 single base substitution C T intron_variant OV-AU 12 3895506 3895506 single base substitution A G downstream_gene_variant OV-AU 12 3897842 3897842 single base substitution A G downstream_gene_variant OV-AU 12 3901197 3901197 single base substitution G A 3_prime_UTR_variant OV-AU 12 3903953 3903953 single base substitution G A intron_variant OV-AU 12 3907122 3907122 single base substitution A C intron_variant OV-AU 12 3915137 3915137 single base substitution A C downstream_gene_variant OV-AU 12 3915137 3915137 single base substitution A C intron_variant OV-AU 12 3919836 3919836 single base substitution G A 3_prime_UTR_variant OV-AU 12 3919836 3919836 single base substitution G A downstream_gene_variant OV-AU 12 3919836 3919836 single base substitution G A intron_variant OV-AU 12 3926507 3926507 single base substitution C T intron_variant OV-AU 12 3926693 3926693 single base substitution G A intron_variant OV-AU 12 3927872 3927872 single base substitution C A intron_variant OV-AU 12 3933186 3933186 single base substitution C A downstream_gene_variant OV-AU 12 3933186 3933186 single base substitution C A intron_variant OV-AU 12 3933186 3933186 single base substitution C A upstream_gene_variant OV-AU 12 3939783 3939783 single base substitution C T intron_variant OV-AU 12 3939832 3939832 single base substitution T A intron_variant OV-AU 12 3944812 3944812 single base substitution T G intron_variant OV-AU 12 3953992 3953992 single base substitution G T intron_variant OV-AU 12 3954350 3954350 single base substitution A G intron_variant OV-AU 12 3960797 3960797 single base substitution C A intron_variant OV-AU 12 3961255 3961255 single base substitution C A intron_variant OV-AU 12 3964722 3964722 single base substitution T C intron_variant OV-AU 12 3969892 3969892 single base substitution A C intron_variant OV-AU 12 3970980 3970980 single base substitution G C intron_variant OV-AU 12 3979118 3979118 single base substitution G T intron_variant OV-AU 12 3983332 3983332 single base substitution C G upstream_gene_variant OV-AU 12 3984065 3984065 single base substitution A G upstream_gene_variant OV-AU 12 3986485 3986485 single base substitution C T upstream_gene_variant OV-US 12 3921561 3921561 single base substitution T C 3_prime_UTR_variant OV-US 12 3921561 3921561 single base substitution T C intron_variant OV-US 12 3921561 3921561 single base substitution T C missense_variant K168E 502A>G OV-US 12 3921561 3921561 single base substitution T C missense_variant K249E 745A>G PACA-AU 12 3899099 3899099 single base substitution A T downstream_gene_variant PACA-AU 12 3899911 3899911 single base substitution C G downstream_gene_variant PACA-AU 12 3901421 3901421 single base substitution A G intron_variant PACA-AU 12 3904096 3904096 single base substitution G T intron_variant PACA-AU 12 3906225 3906225 single base substitution T C intron_variant PACA-AU 12 3906747 3906747 single base substitution G C intron_variant PACA-AU 12 3913080 3913080 single base substitution C G downstream_gene_variant PACA-AU 12 3913080 3913080 single base substitution C G intron_variant PACA-AU 12 3915140 3915140 single base substitution C T downstream_gene_variant PACA-AU 12 3915140 3915140 single base substitution C T intron_variant PACA-AU 12 3915247 3915247 insertion of <=200bp - G downstream_gene_variant PACA-AU 12 3915247 3915247 insertion of <=200bp - G intron_variant PACA-AU 12 3917465 3917465 single base substitution T A downstream_gene_variant PACA-AU 12 3917465 3917465 single base substitution T A intron_variant PACA-AU 12 3920203 3920203 single base substitution A G 3_prime_UTR_variant PACA-AU 12 3920203 3920203 single base substitution A G downstream_gene_variant PACA-AU 12 3920203 3920203 single base substitution A G intron_variant PACA-AU 12 3921671 3921671 single base substitution C T intron_variant PACA-AU 12 3924592 3924609 deletion of <=200bp AAAACAACATTGCAAATT - intron_variant PACA-AU 12 3925119 3925119 single base substitution C T intron_variant PACA-AU 12 3927092 3927096 deletion of <=200bp ATTCC - intron_variant PACA-AU 12 3931502 3931502 single base substitution C T intron_variant PACA-AU 12 3931502 3931502 single base substitution C T upstream_gene_variant PACA-AU 12 3934385 3934385 single base substitution C A downstream_gene_variant PACA-AU 12 3934385 3934385 single base substitution C A intron_variant PACA-AU 12 3934385 3934385 single base substitution C A upstream_gene_variant PACA-AU 12 3946274 3946274 single base substitution G A intron_variant PACA-AU 12 3946726 3946726 single base substitution A T intron_variant PACA-AU 12 3955804 3955804 single base substitution T A intron_variant PACA-AU 12 3960802 3960802 single base substitution C T intron_variant PACA-AU 12 3962484 3962484 single base substitution C T intron_variant PACA-AU 12 3962720 3962720 single base substitution G T intron_variant PACA-AU 12 3964477 3964477 single base substitution G C intron_variant PACA-AU 12 3976438 3976438 single base substitution C G intron_variant PACA-AU 12 3981446 3981446 deletion of <=200bp A - intron_variant PACA-AU 12 3983213 3983213 single base substitution C G upstream_gene_variant PACA-AU 12 3983346 3983346 single base substitution A G upstream_gene_variant PACA-CA 12 3901445 3901445 single base substitution T C intron_variant PACA-CA 12 3903649 3903649 single base substitution T A intron_variant PACA-CA 12 3903777 3903777 single base substitution T C intron_variant PACA-CA 12 3910620 3910620 single base substitution A G intron_variant PACA-CA 12 3911609 3911609 single base substitution A C downstream_gene_variant PACA-CA 12 3911609 3911609 single base substitution A C intron_variant PACA-CA 12 3912833 3912833 single base substitution T C downstream_gene_variant PACA-CA 12 3912833 3912833 single base substitution T C intron_variant PACA-CA 12 3913592 3913592 single base substitution G A downstream_gene_variant PACA-CA 12 3913592 3913592 single base substitution G A intron_variant PACA-CA 12 3916070 3916070 single base substitution C A 3_prime_UTR_variant PACA-CA 12 3916070 3916070 single base substitution C A downstream_gene_variant PACA-CA 12 3917366 3917366 single base substitution G T downstream_gene_variant PACA-CA 12 3917366 3917366 single base substitution G T intron_variant PACA-CA 12 3917941 3917941 single base substitution C G downstream_gene_variant PACA-CA 12 3917941 3917941 single base substitution C G intron_variant PACA-CA 12 3919471 3919471 single base substitution T C 3_prime_UTR_variant PACA-CA 12 3919471 3919471 single base substitution T C downstream_gene_variant PACA-CA 12 3919471 3919471 single base substitution T C intron_variant PACA-CA 12 3920115 3920115 single base substitution C T 3_prime_UTR_variant PACA-CA 12 3920115 3920115 single base substitution C T downstream_gene_variant PACA-CA 12 3920115 3920115 single base substitution C T intron_variant PACA-CA 12 3926578 3926578 single base substitution C G intron_variant PACA-CA 12 3927366 3927366 single base substitution C G intron_variant PACA-CA 12 3932213 3932213 single base substitution C T intron_variant PACA-CA 12 3932213 3932213 single base substitution C T upstream_gene_variant PACA-CA 12 3932568 3932568 deletion of <=200bp T - intron_variant PACA-CA 12 3932568 3932568 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 3932673 3932673 single base substitution A T intron_variant PACA-CA 12 3932673 3932673 single base substitution A T upstream_gene_variant PACA-CA 12 3936741 3936741 single base substitution C G downstream_gene_variant PACA-CA 12 3936741 3936741 single base substitution C G intron_variant PACA-CA 12 3937572 3937572 single base substitution G A downstream_gene_variant PACA-CA 12 3937572 3937572 single base substitution G A intron_variant PACA-CA 12 3938397 3938397 single base substitution C T intron_variant PACA-CA 12 3939544 3939544 single base substitution C T intron_variant PACA-CA 12 3939742 3939742 single base substitution A C intron_variant PACA-CA 12 3943696 3943696 single base substitution A T intron_variant PACA-CA 12 3945179 3945179 insertion of <=200bp - TA intron_variant PACA-CA 12 3945724 3945724 single base substitution G T intron_variant PACA-CA 12 3946160 3946160 single base substitution C T intron_variant PACA-CA 12 3953463 3953463 single base substitution T C intron_variant PACA-CA 12 3953594 3953594 insertion of <=200bp - T intron_variant PACA-CA 12 3956224 3956224 insertion of <=200bp - AG intron_variant PACA-CA 12 3956752 3956752 single base substitution T A intron_variant PACA-CA 12 3958231 3958231 single base substitution C T intron_variant PACA-CA 12 3958983 3958983 single base substitution A C intron_variant PACA-CA 12 3961769 3961769 single base substitution A G intron_variant PACA-CA 12 3961825 3961825 single base substitution G C intron_variant PACA-CA 12 3961975 3961975 single base substitution C A intron_variant PACA-CA 12 3962772 3962772 single base substitution C A intron_variant PACA-CA 12 3963495 3963495 single base substitution A G intron_variant PACA-CA 12 3968232 3968232 single base substitution C T intron_variant PACA-CA 12 3968793 3968793 single base substitution G A intron_variant PACA-CA 12 3971108 3971108 single base substitution G C intron_variant PACA-CA 12 3971403 3971403 single base substitution G A intron_variant PACA-CA 12 3973177 3973177 deletion of <=200bp A - intron_variant PACA-CA 12 3973321 3973321 single base substitution C T intron_variant PACA-CA 12 3974065 3974065 single base substitution T C intron_variant PACA-CA 12 3980725 3980725 single base substitution C T intron_variant PACA-CA 12 3983360 3983360 single base substitution A C upstream_gene_variant PACA-CA 12 3983547 3983547 single base substitution C A upstream_gene_variant PACA-CA 12 3986342 3986342 single base substitution G A upstream_gene_variant PACA-CA 12 3986518 3986518 single base substitution T G upstream_gene_variant PACA-CA 12 3987077 3987077 single base substitution C A upstream_gene_variant PACA-CA 12 3987078 3987078 single base substitution C T upstream_gene_variant PAEN-AU 12 3901859 3901859 single base substitution G T intron_variant PAEN-AU 12 3904609 3904609 single base substitution G A intron_variant PAEN-AU 12 3912549 3912549 single base substitution G A downstream_gene_variant PAEN-AU 12 3912549 3912549 single base substitution G A intron_variant PAEN-AU 12 3919508 3919508 single base substitution C T 3_prime_UTR_variant PAEN-AU 12 3919508 3919508 single base substitution C T downstream_gene_variant PAEN-AU 12 3919508 3919508 single base substitution C T intron_variant PAEN-AU 12 3937470 3937470 single base substitution T C downstream_gene_variant PAEN-AU 12 3937470 3937470 single base substitution T C intron_variant PAEN-AU 12 3972524 3972524 single base substitution C G intron_variant PAEN-AU 12 3983566 3983566 single base substitution A T upstream_gene_variant PAEN-IT 12 3919986 3919986 single base substitution A C 3_prime_UTR_variant PAEN-IT 12 3919986 3919986 single base substitution A C downstream_gene_variant PAEN-IT 12 3919986 3919986 single base substitution A C intron_variant PAEN-IT 12 3945496 3945496 single base substitution A G intron_variant PAEN-IT 12 3947304 3947304 single base substitution A C intron_variant PAEN-IT 12 3950860 3950860 single base substitution C A intron_variant PAEN-IT 12 3956426 3956426 single base substitution A T intron_variant PBCA-DE 12 3903025 3903025 insertion of <=200bp - G intron_variant PBCA-DE 12 3910617 3910617 single base substitution C G intron_variant PBCA-DE 12 3935015 3935015 insertion of <=200bp - C downstream_gene_variant PBCA-DE 12 3935015 3935015 insertion of <=200bp - C intron_variant PBCA-DE 12 3935015 3935015 insertion of <=200bp - C upstream_gene_variant PBCA-DE 12 3936099 3936099 single base substitution A T downstream_gene_variant PBCA-DE 12 3936099 3936099 single base substitution A T intron_variant PBCA-DE 12 3936099 3936099 single base substitution A T upstream_gene_variant PBCA-DE 12 3940308 3940308 insertion of <=200bp - G intron_variant PBCA-DE 12 3944404 3944404 single base substitution C G intron_variant PBCA-DE 12 3977280 3977280 insertion of <=200bp - A intron_variant PBCA-DE 12 3979038 3979038 single base substitution G A intron_variant PBCA-DE 12 3983361 3983361 insertion of <=200bp - T upstream_gene_variant PRAD-CA 12 3919820 3919820 single base substitution G A 3_prime_UTR_variant PRAD-CA 12 3919820 3919820 single base substitution G A downstream_gene_variant PRAD-CA 12 3919820 3919820 single base substitution G A intron_variant PRAD-CA 12 3934724 3934724 single base substitution G C downstream_gene_variant PRAD-CA 12 3934724 3934724 single base substitution G C intron_variant PRAD-CA 12 3934724 3934724 single base substitution G C upstream_gene_variant PRAD-CA 12 3945911 3945911 single base substitution A C intron_variant PRAD-CA 12 3956648 3956648 single base substitution G A intron_variant PRAD-UK 12 3895517 3895518 deletion of <=200bp TT - downstream_gene_variant PRAD-UK 12 3897658 3897699 multiple base substitution (>=2bp and <=200bp) ATATATAAAAAAAGAAAGAAATCATTGCCAAGATCAATGTCA AACT downstream_gene_variant PRAD-UK 12 3923354 3923354 insertion of <=200bp - T frameshift_variant R102R? PRAD-UK 12 3923354 3923354 insertion of <=200bp - T frameshift_variant R176R? PRAD-UK 12 3923354 3923354 insertion of <=200bp - T frameshift_variant R183R? PRAD-UK 12 3923354 3923354 insertion of <=200bp - T splice_region_variant PRAD-UK 12 3941974 3941974 single base substitution C T intron_variant PRAD-UK 12 3984273 3984273 insertion of <=200bp - T upstream_gene_variant READ-US 12 3939084 3939084 single base substitution G T 5_prime_UTR_variant READ-US 12 3939084 3939084 single base substitution G T exon_variant READ-US 12 3939084 3939084 single base substitution G T missense_variant A33E 98C>A READ-US 12 3939084 3939084 single base substitution G T missense_variant A40E 119C>A READ-US 12 3939084 3939084 single base substitution G T missense_variant Q19K 55C>A RECA-EU 12 3896988 3896988 single base substitution G T downstream_gene_variant RECA-EU 12 3901597 3901597 single base substitution C A intron_variant RECA-EU 12 3908782 3908782 single base substitution G T intron_variant RECA-EU 12 3909291 3909291 single base substitution T G intron_variant RECA-EU 12 3910290 3910290 single base substitution G T intron_variant RECA-EU 12 3911175 3911175 single base substitution T C intron_variant RECA-EU 12 3928329 3928329 single base substitution G C intron_variant RECA-EU 12 3930923 3930923 single base substitution C A intron_variant RECA-EU 12 3930924 3930924 single base substitution G A intron_variant RECA-EU 12 3938287 3938287 single base substitution T A intron_variant RECA-EU 12 3938895 3938895 single base substitution G C intron_variant RECA-EU 12 3952303 3952303 single base substitution T C intron_variant RECA-EU 12 3961815 3961815 single base substitution A C intron_variant RECA-EU 12 3963294 3963294 single base substitution T A intron_variant RECA-EU 12 3971444 3971444 single base substitution C A intron_variant RECA-EU 12 3973791 3973791 single base substitution G A intron_variant RECA-EU 12 3974724 3974724 single base substitution T A intron_variant RECA-EU 12 3982719 3982719 single base substitution A G upstream_gene_variant RECA-EU 12 3983372 3983372 single base substitution C G upstream_gene_variant RECA-EU 12 3984993 3984993 single base substitution T A upstream_gene_variant SKCA-BR 12 3897485 3897485 single base substitution G A downstream_gene_variant SKCA-BR 12 3898531 3898531 single base substitution C T downstream_gene_variant SKCA-BR 12 3899591 3899591 single base substitution G A downstream_gene_variant SKCA-BR 12 3900555 3900555 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 3900805 3900805 single base substitution T G 3_prime_UTR_variant SKCA-BR 12 3901257 3901257 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 3902788 3902788 single base substitution G A intron_variant SKCA-BR 12 3904013 3904013 single base substitution G A intron_variant SKCA-BR 12 3906674 3906674 single base substitution C T intron_variant SKCA-BR 12 3907413 3907413 single base substitution A G intron_variant SKCA-BR 12 3911687 3911687 single base substitution G A downstream_gene_variant SKCA-BR 12 3911687 3911687 single base substitution G A intron_variant SKCA-BR 12 3912840 3912840 single base substitution G A downstream_gene_variant SKCA-BR 12 3912840 3912840 single base substitution G A intron_variant SKCA-BR 12 3912891 3912891 single base substitution G A downstream_gene_variant SKCA-BR 12 3912891 3912891 single base substitution G A intron_variant SKCA-BR 12 3913885 3913885 single base substitution G A downstream_gene_variant SKCA-BR 12 3913885 3913885 single base substitution G A intron_variant SKCA-BR 12 3914002 3914002 single base substitution G A downstream_gene_variant SKCA-BR 12 3914002 3914002 single base substitution G A intron_variant SKCA-BR 12 3914055 3914055 single base substitution G A downstream_gene_variant SKCA-BR 12 3914055 3914055 single base substitution G A intron_variant SKCA-BR 12 3915982 3915982 single base substitution G A downstream_gene_variant SKCA-BR 12 3915982 3915982 single base substitution G A intron_variant SKCA-BR 12 3918931 3918931 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 3918931 3918931 single base substitution G A downstream_gene_variant SKCA-BR 12 3918931 3918931 single base substitution G A intron_variant SKCA-BR 12 3919580 3919580 single base substitution A C 3_prime_UTR_variant SKCA-BR 12 3919580 3919580 single base substitution A C downstream_gene_variant SKCA-BR 12 3919580 3919580 single base substitution A C intron_variant SKCA-BR 12 3921019 3921019 single base substitution T G 3_prime_UTR_variant SKCA-BR 12 3921019 3921019 single base substitution T G downstream_gene_variant SKCA-BR 12 3921019 3921019 single base substitution T G exon_variant SKCA-BR 12 3921019 3921019 single base substitution T G intron_variant SKCA-BR 12 3922392 3922392 single base substitution G A intron_variant SKCA-BR 12 3926048 3926048 single base substitution A G intron_variant SKCA-BR 12 3928655 3928655 single base substitution A C intron_variant SKCA-BR 12 3931537 3931537 single base substitution A G intron_variant SKCA-BR 12 3931537 3931537 single base substitution A G upstream_gene_variant SKCA-BR 12 3932066 3932066 single base substitution T A intron_variant SKCA-BR 12 3932066 3932066 single base substitution T A upstream_gene_variant SKCA-BR 12 3932716 3932716 single base substitution C A intron_variant SKCA-BR 12 3932716 3932716 single base substitution C A upstream_gene_variant SKCA-BR 12 3936233 3936233 single base substitution G A downstream_gene_variant SKCA-BR 12 3936233 3936233 single base substitution G A intron_variant SKCA-BR 12 3936537 3936537 single base substitution C T downstream_gene_variant SKCA-BR 12 3936537 3936537 single base substitution C T intron_variant SKCA-BR 12 3936911 3936911 single base substitution T C downstream_gene_variant SKCA-BR 12 3936911 3936911 single base substitution T C intron_variant SKCA-BR 12 3943403 3943403 single base substitution A G intron_variant SKCA-BR 12 3943936 3943936 single base substitution G A intron_variant SKCA-BR 12 3943956 3943959 deletion of <=200bp AGAG - intron_variant SKCA-BR 12 3944238 3944238 single base substitution G A intron_variant SKCA-BR 12 3945266 3945266 single base substitution C T intron_variant SKCA-BR 12 3946058 3946058 single base substitution G A intron_variant SKCA-BR 12 3946071 3946071 single base substitution G A intron_variant SKCA-BR 12 3946479 3946479 single base substitution G A intron_variant SKCA-BR 12 3947544 3947544 single base substitution G A intron_variant SKCA-BR 12 3947907 3947907 single base substitution A G intron_variant SKCA-BR 12 3949529 3949529 single base substitution C A intron_variant SKCA-BR 12 3949748 3949748 single base substitution G A intron_variant SKCA-BR 12 3950108 3950108 single base substitution A C intron_variant SKCA-BR 12 3955945 3955945 insertion of <=200bp - AAAAG intron_variant SKCA-BR 12 3957166 3957166 single base substitution A G intron_variant SKCA-BR 12 3957896 3957896 single base substitution G A intron_variant SKCA-BR 12 3958089 3958089 single base substitution A G intron_variant SKCA-BR 12 3962072 3962072 single base substitution G A intron_variant SKCA-BR 12 3962328 3962328 single base substitution A C intron_variant SKCA-BR 12 3965002 3965002 single base substitution G A intron_variant SKCA-BR 12 3967180 3967180 single base substitution C T intron_variant SKCA-BR 12 3968725 3968726 deletion of <=200bp TA - intron_variant SKCA-BR 12 3970713 3970713 single base substitution C T intron_variant SKCA-BR 12 3971032 3971032 single base substitution T A intron_variant SKCA-BR 12 3972358 3972358 single base substitution T C intron_variant SKCA-BR 12 3981891 3981891 single base substitution T G intron_variant SKCA-BR 12 3983210 3983210 single base substitution T C upstream_gene_variant SKCA-BR 12 3986966 3986966 single base substitution T C upstream_gene_variant SKCA-BR 12 3987373 3987373 single base substitution C T upstream_gene_variant SKCM-US 12 3921430 3921430 single base substitution G A 3_prime_UTR_variant SKCM-US 12 3921430 3921430 single base substitution G A intron_variant SKCM-US 12 3921430 3921430 single base substitution G A synonymous_variant S211S 633C>T SKCM-US 12 3921430 3921430 single base substitution G A synonymous_variant S292S 876C>T SKCM-US 12 3931093 3931093 single base substitution C T 3_prime_UTR_variant SKCM-US 12 3931093 3931093 single base substitution C T exon_variant SKCM-US 12 3931093 3931093 single base substitution C T missense_variant R158Q 473G>A SKCM-US 12 3931093 3931093 single base substitution C T missense_variant R165Q 494G>A SKCM-US 12 3931093 3931093 single base substitution C T missense_variant R84Q 251G>A SKCM-US 12 3935326 3935326 single base substitution G A downstream_gene_variant SKCM-US 12 3935326 3935326 single base substitution G A splice_region_variant SKCM-US 12 3935326 3935326 single base substitution G A upstream_gene_variant SKCM-US 12 3939121 3939121 single base substitution C G 5_prime_UTR_variant SKCM-US 12 3939121 3939121 single base substitution C G exon_variant SKCM-US 12 3939121 3939121 single base substitution C G missense_variant D21H 61G>C SKCM-US 12 3939121 3939121 single base substitution C G missense_variant D28H 82G>C SKCM-US 12 3939121 3939121 single base substitution C G missense_variant W6C 18G>C STAD-US 12 3921464 3921464 single base substitution C A 3_prime_UTR_variant STAD-US 12 3921464 3921464 single base substitution C A intron_variant STAD-US 12 3921464 3921464 single base substitution C A missense_variant R200L 599G>T STAD-US 12 3921464 3921464 single base substitution C A missense_variant R281L 842G>T STAD-US 12 3921503 3921503 single base substitution C T 3_prime_UTR_variant STAD-US 12 3921503 3921503 single base substitution C T intron_variant STAD-US 12 3921503 3921503 single base substitution C T missense_variant R187Q 560G>A STAD-US 12 3921503 3921503 single base substitution C T missense_variant R268Q 803G>A STAD-US 12 3923335 3923335 single base substitution T C 3_prime_UTR_variant STAD-US 12 3923335 3923335 single base substitution T C exon_variant STAD-US 12 3923335 3923335 single base substitution T C missense_variant K109E 325A>G STAD-US 12 3923335 3923335 single base substitution T C missense_variant K183E 547A>G STAD-US 12 3923335 3923335 single base substitution T C missense_variant K190E 568A>G STAD-US 12 3931156 3931156 single base substitution T C 3_prime_UTR_variant STAD-US 12 3931156 3931156 single base substitution T C exon_variant STAD-US 12 3931156 3931156 single base substitution T C missense_variant H137R 410A>G STAD-US 12 3931156 3931156 single base substitution T C missense_variant H144R 431A>G STAD-US 12 3931156 3931156 single base substitution T C missense_variant H63R 188A>G STAD-US 12 3931156 3931156 single base substitution T C upstream_gene_variant STAD-US 12 3938171 3938171 single base substitution A G exon_variant STAD-US 12 3938171 3938171 single base substitution A G intron_variant STAD-US 12 3938171 3938171 single base substitution A G missense_variant V51A 152T>C STAD-US 12 3938171 3938171 single base substitution A G missense_variant V58A 173T>C STAD-US 12 3938171 3938171 single base substitution A G synonymous_variant L37L 109T>C STAD-US 12 3939057 3939057 single base substitution T C missense_variant Q42R 125A>G STAD-US 12 3939057 3939057 single base substitution T C missense_variant Q49R 146A>G STAD-US 12 3939057 3939057 single base substitution T C missense_variant S28G 82A>G STAD-US 12 3939057 3939057 single base substitution T C splice_region_variant UCEC-US 12 3921314 3921314 single base substitution G A 3_prime_UTR_variant UCEC-US 12 3921314 3921314 single base substitution G A intron_variant UCEC-US 12 3921314 3921314 single base substitution G A missense_variant P250L 749C>T UCEC-US 12 3921314 3921314 single base substitution G A missense_variant P331L 992C>T UCEC-US 12 3921558 3921558 single base substitution C A 3_prime_UTR_variant UCEC-US 12 3921558 3921558 single base substitution C A intron_variant UCEC-US 12 3921558 3921558 single base substitution C A missense_variant D169Y 505G>T UCEC-US 12 3921558 3921558 single base substitution C A missense_variant D250Y 748G>T UCEC-US 12 3923299 3923299 single base substitution G A 3_prime_UTR_variant UCEC-US 12 3923299 3923299 single base substitution G A exon_variant UCEC-US 12 3923299 3923299 single base substitution G A synonymous_variant L121L 361C>T UCEC-US 12 3923299 3923299 single base substitution G A synonymous_variant L195L 583C>T UCEC-US 12 3923299 3923299 single base substitution G A synonymous_variant L202L 604C>T UCEC-US 12 3931047 3931047 single base substitution G T 3_prime_UTR_variant UCEC-US 12 3931047 3931047 single base substitution G T exon_variant UCEC-US 12 3931047 3931047 single base substitution G T missense_variant F173L 519C>A UCEC-US 12 3931047 3931047 single base substitution G T missense_variant F180L 540C>A UCEC-US 12 3931047 3931047 single base substitution G T missense_variant F99L 297C>A UCEC-US 12 3931093 3931093 single base substitution C T 3_prime_UTR_variant UCEC-US 12 3931093 3931093 single base substitution C T exon_variant UCEC-US 12 3931093 3931093 single base substitution C T missense_variant R158Q 473G>A UCEC-US 12 3931093 3931093 single base substitution C T missense_variant R165Q 494G>A UCEC-US 12 3931093 3931093 single base substitution C T missense_variant R84Q 251G>A UCEC-US 12 3931303 3931303 single base substitution G A 3_prime_UTR_variant UCEC-US 12 3931303 3931303 single base substitution G A exon_variant UCEC-US 12 3931303 3931303 single base substitution G A missense_variant A115V 344C>T UCEC-US 12 3931303 3931303 single base substitution G A missense_variant A122V 365C>T UCEC-US 12 3931303 3931303 single base substitution G A missense_variant A41V 122C>T UCEC-US 12 3931303 3931303 single base substitution G A upstream_gene_variant UCEC-US 12 3938117 3938117 single base substitution G T downstream_gene_variant UCEC-US 12 3938117 3938117 single base substitution G T exon_variant UCEC-US 12 3938117 3938117 single base substitution G T intron_variant UCEC-US 12 3938117 3938117 single base substitution G T missense_variant S69Y 206C>A UCEC-US 12 3938117 3938117 single base substitution G T missense_variant S76Y 227C>A UCEC-US 12 3938119 3938119 single base substitution A C downstream_gene_variant UCEC-US 12 3938119 3938119 single base substitution A C exon_variant UCEC-US 12 3938119 3938119 single base substitution A C intron_variant UCEC-US 12 3938119 3938119 single base substitution A C missense_variant I68M 204T>G UCEC-US 12 3938119 3938119 single base substitution A C missense_variant I75M 225T>G UCEC-US 12 3939163 3939163 single base substitution C A 5_prime_UTR_variant UCEC-US 12 3939163 3939163 single base substitution C A exon_variant UCEC-US 12 3939163 3939163 single base substitution C A stop_gained E14* 40G>T UCEC-US 12 3939163 3939163 single base substitution C A stop_gained E7* 19G>T UCEC-US 12 3948688 3948688 single base substitution A G intron_variant UCEC-US 12 3948700 3948700 single base substitution A C intron_variant UCEC-US 12 3948790 3948790 single base substitution C T intron_variant UCEC-US 12 3948817 3948817 single base substitution T G intron_variant UCEC-US 12 3948994 3948994 single base substitution T C intron_variant UCEC-US 12 3949254 3949254 single base substitution A C intron_variant UCEC-US 12 3949293 3949293 single base substitution T C intron_variant UCEC-US 12 3949297 3949297 single base substitution C A intron_variant UCEC-US 12 3949396 3949396 single base substitution C A intron_variant UCEC-US 12 3949559 3949559 single base substitution G T intron_variant UCEC-US 12 3949670 3949670 single base substitution G T intron_variant UCEC-US 12 3949768 3949768 single base substitution G A intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-21-1077-01 COSM693278 c.394C>T p.Q132* Substitution - Nonsense 12:3822087-3822087 - PT48 COSM5933114 c.754C>T p.Q252* Substitution - Nonsense 12:3812365-3812365 - TCGA-BS-A0TJ-01 COSM938913 c.360A>G p.P120P Substitution - coding silent 12:3822121-3822121 - TCGA-BP-4977-01 COSM468303 c.22T>A p.L8I Substitution - Missense 12:3829994-3829994 - TCGA-AA-3866-01 COSM296116 c.458C>T p.T153M Substitution - Missense 12:3821942-3821942 - PA285 COSM1163003 c.163G>A p.D55N Substitution - Missense 12:3828994-3828994 - YUTRAIN COSM5375067 c.508T>G p.L170V Substitution - Missense 12:3821892-3821892 - TCGA-AX-A0J1-01 COSM938908 c.583C>T p.L195L Substitution - coding silent 12:3814133-3814133 - TCGA-D1-A17Q-01 COSM178820 c.473G>A p.R158Q Substitution - Missense 12:3821927-3821927 - TCGA-BR-4370-01 COSM4041528 c.782G>A p.R261Q Substitution - Missense 12:3812337-3812337 - PT19_1 COSM5899647 c.358C>T p.P120S Substitution - Missense 12:3822123-3822123 - LUAD-NYU1101 COSM369260 c.854C>T p.S285F Substitution - Missense 12:3812265-3812265 - 71 COSM5015065 c.506A>T p.D169V Substitution - Missense 12:3821894-3821894 - TCGA-AX-A0J0-01 COSM938906 c.727G>T p.D243Y Substitution - Missense 12:3812392-3812392 - PAPNNX COSM5004746 c.129G>A p.P43P Substitution - coding silent 12:3829028-3829028 - ESCC_BICR_060T COSM5434861 c.883G>A p.G295R Substitution - Missense 12:3812236-3812236 - TCGA-DD-A4NF-01 COSM4912789 c.396G>T p.Q132H Substitution - Missense 12:3822085-3822085 - TCGA-AX-A05Z-01 COSM938904 c.971C>T p.P324L Substitution - Missense 12:3812148-3812148 - J30_T COSM3954667 c.379A>T p.T127S Substitution - Missense 12:3822102-3822102 - HCC94T COSM1606045 c.700G>A p.A234T Substitution - Missense 12:3812419-3812419 - TCGA-AP-A056-01 COSM938915 c.206C>A p.S69Y Substitution - Missense 12:3828951-3828951 - DLD1 COSM2206566 c.798A>G p.T266T Substitution - coding silent 12:3812321-3812321 - S0045 COSM5882233 c.117C>T p.H39H Substitution - coding silent 12:3829899-3829899 - TCGA-13-1507-01 COSM75848 c.724A>G p.K242E Substitution - Missense 12:3812395-3812395 - TCGA-AN-A046-01 COSM3811917 c.966C>A p.I322I Substitution - coding silent 12:3812153-3812153 - 2492704 COSM5716753 c.349C>T p.P117S Substitution - Missense 12:3822132-3822132 - T613 COSM548322 c.225C>T p.F75F Substitution - coding silent 12:3828932-3828932 - YUKLAB COSM1704898 c.871C>T p.P291S Substitution - Missense 12:3812248-3812248 - 2492705 COSM5716753 c.349C>T p.P117S Substitution - Missense 12:3822132-3822132 - TCGA-EE-A2GI-06 COSM178820 c.473G>A p.R158Q Substitution - Missense 12:3821927-3821927 - HCT15 COSM2206566 c.798A>G p.T266T Substitution - coding silent 12:3812321-3812321 - Br17X COSM39212 c.414_417delTCAA p.N138fs*30 Deletion - Frameshift 12:3821983-3821986 - T578 COSM4711171 c.169G>A p.E57K Substitution - Missense 12:3828988-3828988 - T368 COSM4711172 c.102A>G p.E34E Substitution - coding silent 12:3829914-3829914 - TCGA-CG-4444-01 COSM4041533 c.152T>C p.V51A Substitution - Missense 12:3829005-3829005 - PR-00-1165 COSM246368 c.132T>C p.D44D Substitution - coding silent 12:3829025-3829025 - TCGA-AX-A063-01 COSM938914 c.344C>T p.A115V Substitution - Missense 12:3822137-3822137 - GB07 COSM1744037 c.878A>T p.K293I Substitution - Missense 12:3812241-3812241 - T2269 COSM178820 c.473G>A p.R158Q Substitution - Missense 12:3821927-3821927 - TCGA-D3-A51T-06 COSM3460379 c.855C>T p.S285S Substitution - coding silent 12:3812264-3812264 - 587238 COSM1219298 c.223T>A p.F75I Substitution - Missense 12:3828934-3828934 - pfg081T COSM4748968 c.236T>G p.I79R Substitution - Missense 12:3828921-3828921 - TCGA-AA-A01K-01 COSM299974 c.468C>T p.R156R Substitution - coding silent 12:3821932-3821932 - YUDUTY COSM1704897 c.883G>C p.G295R Substitution - Missense 12:3812236-3812236 - TCGA-FU-A3HZ-01 COSM938917 c.19G>T p.E7* Substitution - Nonsense 12:3829997-3829997 - ESO-081 COSM1243482 c.882C>T p.D294D Substitution - coding silent 12:3812237-3812237 - PD8964a COSM5782187 c.644G>C p.R215T Substitution - Missense 12:3814072-3814072 - TCGA-AP-A056-01 COSM938917 c.19G>T p.E7* Substitution - Nonsense 12:3829997-3829997 - TCGA-B5-A0JY-01 COSM938912 c.519C>A p.F173L Substitution - Missense 12:3821881-3821881 - TCGA-AO-A128-01 COSM296116 c.458C>T p.T153M Substitution - Missense 12:3821942-3821942 - TCGA-BS-A0UF-01 COSM178820 c.473G>A p.R158Q Substitution - Missense 12:3821927-3821927 - TCGA-CI-6624-01 COSM1562135 c.98C>A p.A33E Substitution - Missense 12:3829918-3829918 - 19 COSM5747353 c.404C>T p.P135L Substitution - Missense 12:3821996-3821996 - T578 COSM4711170 c.803A>C p.K268T Substitution - Missense 12:3812316-3812316 - TCGA-CG-4306-01 COSM4041534 c.125A>G p.Q42R Substitution - Missense 12:3829891-3829891 - YUKAT COSM5375066 c.930C>T p.N310N Substitution - coding silent 12:3812189-3812189 - TCGA-BP-4166-01 COSM3359710 c.879A>G p.K293K Substitution - coding silent 12:3812240-3812240 - HCC94 COSM1606045 c.700G>A p.A234T Substitution - Missense 12:3812419-3812419 - TCGA-BR-4256-01 COSM4041527 c.821G>T p.R274L Substitution - Missense 12:3812298-3812298 - MO_1176 COSM5565287 c.783G>A p.R261R Substitution - coding silent 12:3812336-3812336 - DN15001 COSM5962082 c.536C>T p.A179V Substitution - Missense 12:3814180-3814180 - TCGA-B5-A0K2-01 COSM938905 c.865C>T p.R289* Substitution - Nonsense 12:3812254-3812254 - TCGA-EE-A3J5-06 COSM3460381 c.61G>C p.D21H Substitution - Missense 12:3829955-3829955 - TCGA-BR-8679-01 COSM4041532 c.410A>G p.H137R Substitution - Missense 12:3821990-3821990 - TCGA-BR-8297-01 COSM4041530 c.547A>G p.K183E Substitution - Missense 12:3814169-3814169 - TCGA-18-3421-01 COSM693279 c.929A>T p.N310I Substitution - Missense 12:3812190-3812190 - Pat_24_A COSM5840894 c.295delA p.R99fs*27 Deletion - Frameshift 12:3826186-3826186 - TCGA-BC-A10U-01 COSM4942355 c.14C>G p.A5G Substitution - Missense 12:3830002-3830002 - PT49 COSM5935929 c.218C>T p.S73F Substitution - Missense 12:3828939-3828939 - sysucc-880T COSM5462213 c.66G>A p.T22T Substitution - coding silent 12:3829950-3829950 - sysucc-311T COSM5478220 c.898T>G p.L300V Substitution - Missense 12:3812221-3812221 - TCGA-DD-A4ND-01 COSM4935018 c.31A>G p.K11E Substitution - Missense 12:3829985-3829985 - CSCC-32-T COSM4562620 c.913G>T p.V305L Substitution - Missense 12:3812206-3812206 - 2492706 COSM5716753 c.349C>T p.P117S Substitution - Missense 12:3822132-3822132 - TCGA-RP-A694-06 COSM4894471 c.321C>T p.F107F Substitution - coding silent 12:3826160-3826160 - TCGA-AP-A051-01 COSM938916 c.204T>G p.I68M Substitution - Missense 12:3828953-3828953 - TCGA-A8-A06Z-01 COSM431051 c.12A>G p.K4K Substitution - coding silent 12:3830004-3830004 - TCGA-FU-A3HZ-01 COSM4839620 c.733A>G p.I245V Substitution - Missense 12:3812386-3812386 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.657267;Hs.657268 12p13.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V58A c.173T>C 12 3938171 STAD A T Missense p.L15I c.43T>A 12 3939160 RCCC C A Missense p.R281L c.842G>T 12 3921464 STAD C A Nonsense p.G234* c.700G>T 12 3923203 LUAD C G Missense p.D28H c.82G>C 12 3939121 CM C T Missense p.G234R c.700G>A 12 3923203 CM C T Missense p.R165Q c.494G>A 12 3931093 CM C T Missense p.R268Q c.803G>A 12 3921503 STAD G - 3-UTRDeletion . c.1014+1897delT 12 3919395 HC G A 3-UTRSNV . c.1014+74C>T 12 3921218 RCCC G A IntronicSNV . c.19-10245C>T 12 3949429 CM G A IntronicSNV . c.19-10473C>T 12 3949657 CM G A Missense p.A122V c.365C>T 12 3931303 UCEC G A Missense p.R268W c.802C>T 12 3921504 COREAD G A Missense p.T160M c.479C>T 12 3931108 COREAD G A Missense p.T160M c.479C>T 12 3931108 HNSC G A Nonsense p.Q139* c.415C>T 12 3931253 LUSC G A Nonsense p.R296* c.886C>T 12 3921420 HNSC G A Synonymous p.F82F c.246C>T 12 3938098 LUAD G A Synonymous p.L96L c.288C>T 12 3935380 HNSC G A Synonymous p.R163R c.489C>T 12 3931098 COREAD G T Missense p.T29K c.86C>A 12 3939117 HNSC T A Missense p.N317I c.950A>T 12 3921356 LUSC TCAA - Frameshift p.N145Kfs*30 c.435_438delTCAA 12 3931149 GBM T C Missense p.K249E c.745A>G 12 3921561 OV T C Missense p.Q49R c.146A>G 12 3939057 STAD T C Synonymous p.K11K c.33A>G 12 3939170 BRCA T C Synonymous p.K300K c.900A>G 12 3921406 RCCC T G SpliceAcceptorSNV . c.269-2A>C 12 3935401 BRCA