AstraZeneca-NGS / VarDictJava

VarDict Java port
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EGFR EXON19 frameshit #367

Open asmlgkj opened 2 years ago

asmlgkj commented 2 years ago

Dear professor, Thanks a lot. I met a variant called by vardict in EGFR EXON19.

chr7 55242462 . CAAGGAATT C 276 PASS SAMPLE=FL202208025;TYPE=Deletion;DP=1493;END=55242470;VD=179;AF=0.1199;BIAS=2:2;REFBIAS=647:662;VARBIAS=81:98;PMEAN=24.1;PSTD=1;QUAL=37;QSTD=1;SBF=0.30123;ODDRATIO=1.18233;MQ=60;SN=358;HIAF=0.1202;ADJAF=0.0496;SHIFT3=3;MSI=2;MSILEN=1;NM=1.0;HICNT=179;HICOV=1489;LSEQ=GTTAAAATTCCCGTCGCTAT;RSEQ=AAGAGAAGCAACATCTCCGA;DUPRATE=0;SPLITREAD=0;SPANPAIR=0;ANNOVAR_DATE=2020-06-08;Func.refGeneWithVer=exonic;Gene.refGeneWithVer=EGFR;GeneDetail.refGeneWithVer=.;ExonicFunc.refGeneWithVer=frameshift_deletion;AAChange.refGeneWithVer=EGFR:NM_005228.4:exon19:c.2233_2240del:p.E746Rfs*14;1000g2015aug_all=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;CLNHGVS=.;avsnp150=.;cosmic94=.;Alt=.;#Chr=.;Start=.;DamagePredCount=.;SIFT_pred=.;SIFT4G_pred=.;LRT_pred=.;MutationTaster_pred=.;MutationAssessor_pred=.;FATHMM_pred=.;PROVEAN_pred=.;MetaSVM_pred=.;MetaLR_pred=.;M-CAP_pred=.;MutPred_score=.;MVP_score=.;MPC_score=.;PrimateAI_pred=.;DEOGEN2_pred=.;BayesDel_addAF_pred=.;BayesDel_noAF_pred=.;LIST-S2_pred=.;DANN_score=.;fathmm-MKL_coding_pred=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-phred_coding=.;Eigen-PC-raw_coding=.;Eigen-PC-phred_coding=.;integrated_fitCons_score=.;GM12878_fitCons_score=.;H1-hESC_fitCons_score=.;HUVEC_fitCons_score=.;GERP++_NR=.;GERP++_RS=.;phyloP100way_vertebrate=.;phyloP30way_mammalian=.;phyloP17way_primate=.;phastCons100way_vertebrate=.;phastCons30way_mammalian=.;phastCons17way_primate=.;bStatistic=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;ALLELE_END GT:DP:VD:AD:AF:RD:ALD 0/1:1493:179:1309,179:0.1199:647,662:81,98


chr7 55242490 . A AAAGCCAAC 237 PASS SAMPLE=FL202208025;TYPE=Insertion;DP=1223;END=55242490;VD=86;AF=0.0703;BIAS=2:2;REFBIAS=530:534;VARBIAS=48:38;PMEAN=3 9;PSTD=1;QUAL=37;QSTD=1;SBF=0.31361;ODDRATIO=1.27242651736862;MQ=60;SN=172;HIAF=0.0809;ADJAF=0.009;SHIFT3=11;MSI=3;MSILEN=1;NM=1.0;HICNT=86;HICOV=1063;LSEQ=TAAGAGAAGCAACATCTCCG;RSEQ=AAGCCAA CAAGGAAATCCTC;DUPRATE=0;SPLITREAD=0;SPANPAIR=0;ANNOVAR_DATE=2020-06-08;Func.refGeneWithVer=exonic;Gene.refGeneWithVer=EGFR;GeneDetail.refGeneWithVer=.;ExonicFunc.refGeneWithVer=frameshift_i nsertion;AAChange.refGeneWithVer=EGFR:NM_005228.4:exon19:c.2260_2261insAAGCCAAC:p.E758Pfs*11;1000g2015aug_all=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF _eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;CL NHGVS=.;avsnp150=.;cosmic94=.;Alt=.;#Chr=.;Start=.;DamagePredCount=.;SIFT_pred=.;SIFT4G_pred=.;LRT_pred=.;MutationTaster_pred=.;MutationAssessor_pred=.;FATHMM_pred=.;PROVEANpred=.;MetaSVM pred=.;MetaLR_pred=.;M-CAP_pred=.;MutPred_score=.;MVP_score=.;MPC_score=.;PrimateAI_pred=.;DEOGEN2_pred=.;BayesDel_addAF_pred=.;BayesDel_noAF_pred=.;LIST-S2_pred=.;DANN_score=.;fathmm-MKL_c oding_pred=.;fathmm-XF_coding_pred=.;Eigen-raw_coding=.;Eigen-phred_coding=.;Eigen-PC-raw_coding=.;Eigen-PC-phred_coding=.;integrated_fitCons_score=.;GM12878_fitCons_score=.;H1-hESC_fitCons _score=.;HUVEC_fitCons_score=.;GERP++_NR=.;GERP++_RS=.;phyloP100way_vertebrate=.;phyloP30way_mammalian=.;phyloP17way_primate=.;phastCons100way_vertebrate=.;phastCons30way_mammalian=.;phastC ons17way_primate=.;bStatistic=.;Interpro_domain=.;GTEx_V8_gene=.;GTEx_V8_tissue=.;ALLELE_END GT:DP:VD:AD:AF:RD:ALD 0/1:1223:86:1064,86:0.0703:530,534:48,38

b9f58adb5d88e98fe9a9670679ee0ac


is this two real variant?