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3.0 years ago
lincaijin1994
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40
Hugo_Symbol Variant_Classification tx exon txChange aaChange Variant_Type sample_id Func.refGene Gene.refGene GeneDetail.refGene ExonicFunc.refGene AAChange.refGene Func.knownGene Gene.knownGene GeneDetail.knownGene ExonicFunc.knownGene AAChange.knownGene Func.ensGene Gene.ensGene GeneDetail.ensGene ExonicFunc.ensGene AAChange.ensGene
PRKCZ Missense_Mutation NM_002744 exon1 c.G50T p.R17L SNP 1901797K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon1:c.G50T:p.R17L exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon1:c.G50T:p.R17L exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon1:c.G50T:p.R17L,ENSG00000067606:ENST00000468310:exon1:c.G50T:p.R17L
PRKCZ Missense_Mutation NM_002744 exon2 c.G97T p.A33S SNP 1902400K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon2:c.G97T:p.A33S exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon2:c.G97T:p.A33S exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon2:c.G97T:p.A33S,ENSG00000067606:ENST00000468310:exon2:c.G97T:p.A33S
PRKCZ Missense_Mutation NM_002744 exon2 c.C98A p.A33D SNP B2001120K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon2:c.C98A:p.A33D exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon2:c.C98A:p.A33D exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon2:c.C98A:p.A33D,ENSG00000067606:ENST00000468310:exon2:c.C98A:p.A33D
PRKCZ Missense_Mutation NM_002744 exon2 c.C164A p.P55Q SNP 1800772K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon2:c.C164A:p.P55Q exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon2:c.C164A:p.P55Q exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon2:c.C164A:p.P55Q,ENSG00000067606:ENST00000468310:exon2:c.C164A:p.P55Q,ENSG00000067606:ENST00000503297:exon2:c.C26A:p.P9Q
PRKCZ Missense_Mutation NM_002744 exon2 c.C172A p.L58I SNP 1800772K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon2:c.C172A:p.L58I exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon2:c.C172A:p.L58I exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon2:c.C172A:p.L58I,ENSG00000067606:ENST00000468310:exon2:c.C172A:p.L58I,ENSG00000067606:ENST00000503297:exon2:c.C34A:p.L12I
PRKCZ Missense_Mutation NM_002744 exon2 c.C172A p.L58I SNP 1800782K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon2:c.C172A:p.L58I exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon2:c.C172A:p.L58I exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon2:c.C172A:p.L58I,ENSG00000067606:ENST00000468310:exon2:c.C172A:p.L58I,ENSG00000067606:ENST00000503297:exon2:c.C34A:p.L12I
PRKCZ Missense_Mutation NM_002744 exon2 c.C172A p.L58I SNP 1800816K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon2:c.C172A:p.L58I exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon2:c.C172A:p.L58I exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon2:c.C172A:p.L58I,ENSG00000067606:ENST00000468310:exon2:c.C172A:p.L58I,ENSG00000067606:ENST00000503297:exon2:c.C34A:p.L12I
PRKCZ Missense_Mutation NM_002744 exon3 c.C217A p.Q73K SNP 1800853K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon3:c.C217A:p.Q73K exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon3:c.C217A:p.Q73K exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon3:c.C217A:p.Q73K,ENSG00000067606:ENST00000503297:exon3:c.C79A:p.Q27K
PRKCZ Missense_Mutation NM_002744 exon3 c.G260T p.R87M SNP 1801038K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon3:c.G260T:p.R87M exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon3:c.G260T:p.R87M exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000378567:exon3:c.G260T:p.R87M,ENSG00000067606:ENST00000503297:exon3:c.G122T:p.R41M
PRKCZ Missense_Mutation NM_002744 exon4 c.C290A p.P97Q SNP 1800791K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon4:c.C290A:p.P97Q exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon4:c.C290A:p.P97Q exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000468310:exon3:c.C200A:p.P67Q,ENSG00000067606:ENST00000378567:exon4:c.C290A:p.P97Q,ENSG00000067606:ENST00000503297:exon4:c.C152A:p.P51Q
PRKCZ Missense_Mutation NM_002744 exon4 c.C290A p.P97Q SNP B2000359K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon4:c.C290A:p.P97Q exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon4:c.C290A:p.P97Q exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000468310:exon3:c.C200A:p.P67Q,ENSG00000067606:ENST00000378567:exon4:c.C290A:p.P97Q,ENSG00000067606:ENST00000503297:exon4:c.C152A:p.P51Q
PRKCZ Missense_Mutation NM_002744 exon4 c.C290A p.P97Q SNP B2000415K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon4:c.C290A:p.P97Q exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon4:c.C290A:p.P97Q exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000468310:exon3:c.C200A:p.P67Q,ENSG00000067606:ENST00000378567:exon4:c.C290A:p.P97Q,ENSG00000067606:ENST00000503297:exon4:c.C152A:p.P51Q
PRKCZ Missense_Mutation NM_002744 exon4 c.C290A p.P97Q SNP B2001619K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon4:c.C290A:p.P97Q exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon4:c.C290A:p.P97Q exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000468310:exon3:c.C200A:p.P67Q,ENSG00000067606:ENST00000378567:exon4:c.C290A:p.P97Q,ENSG00000067606:ENST00000503297:exon4:c.C152A:p.P51Q
PRKCZ Missense_Mutation NM_002744 exon4 c.C298A p.P100T SNP B2001256K_anno exonic PRKCZ . nonsynonymous SNV PRKCZ:NM_002744:exon4:c.C298A:p.P100T exonic PRKCZ . nonsynonymous SNV PRKCZ:uc001aiq.3:exon4:c.C298A:p.P100T exonic ENSG00000067606 . nonsynonymous SNV ENSG00000067606:ENST00000468310:exon3:c.C208A:p.P70T,ENSG00000067606:ENST00000378567:exon4:c.C298A:p.P100T,ENSG00000067606:ENST00000503297:exon4:c.C160A:p.P54T
Here is an example of annotation file of missense variant. I want to know how to identify the first codon missense variants. Any help is appreciated.
lines where aaChange matches 'p.M1[A-Z]*'
?