1
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16 50745926 rs2066844 C T 80 PASS NS=3;DP=14;AF=0.5;DB;H2;ANNOVAR_DATE=2015-06-17;Func.refGene=exonic;Gene.refGene=NOD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NOD2:NM_001293557:exon3:c.C2023T:p.R675W,NOD2:NM_022162:exon4:c.C2104T:p.R702W;Func.ensGene=exonic;Gene.ensGene=ENSG00000167207;GeneDetail.ensGene=.;ExonicFunc.ensGene=nonsynonymous_SNV;AAChange.ensGene=ENSG00000167207:ENST00000300589:exon4:c.C2104T:p.R702W;esp6500si_ea=0.043488;esp6500si_all=0.031558;1000g2012apr_eur=0.05;1000g2012apr_all=0.02;snp138=rs2066844;LJB2_SIFT=0.010000;LJB2_PolyPhen2_HDIV=0.999;LJB2_PP2_HDIV_Pred=D;LJB2_PolyPhen2_HVAR=0.901;LJB2_PolyPhen2_HVAR_Pred=P;LJB2_LRT=0.993490;LJB2_LRT_Pred=N;LJB2_MutationTaster=0.291000;LJB2_MutationTaster_Pred=N;LJB_MutationAssessor=2.32;LJB_MutationAssessor_Pred=medium;LJB2_FATHMM=-0.5;LJB2_GERP++=3.66;LJB2_PhyloP=1.421000;LJB2_SiPhy=6.9139;ALLELE_END GT:GQ:DP:HQ 0|0:48:1:51,51 1|0:48:8:51,51 1/1:43:5:.,.
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