#!/bin/sh #PBS -N Germline #PBS -j oe #PBS -l ncpus=12 #PBS -l nodes=1 #PBS -l mem=20G #inputpath=$1 #sample=$2 source /home/liuxiangqiong/miniconda3/bin/activate base gatk4=/cgdata/CGTools/soft/tools/gatk4/gatk-4.0.8.1/gatk b37=/cgdata/Database/GATK/b37/human_g1k_v37_decoy.fasta target=/cgdata/liuxiangqiong/work62pancancer/Client/v0/script/refdata/NanOnco_Plus_Panel_v2.0_Covered_b37_cg.parY2X.sort_NOhap.bed annovar_dir=/cgdata/soft/src/annovar.archive/annovar_v20200608 annovar_db=/cgdata/soft/src/annovar.archive/annovar_v20200608/DB outdir=${inputpath}/4Germline_unpair $gatk4 HaplotypeCaller -R $b37 -I ${bam_dir}/${sample}_clean.bam -ip 50 -L ${target} -O ${outdir}/${sample}.vcf.gz perl $annovar_dir/table_annovar.pl ${outdir}/${sample}.vcf.gz $annovar_db \ -buildver hg19 -out ${outdir}/${sample} -remove \ -protocol refGene,genomicSuperDups,phastConsElements46way,omim,avsnp150,clinvar,icgc28,cosmic94,gnomad_exome,1000g2015aug_all,hgmd-pro,intervar_20180118,dbscsnv11,dbnsfp41a,regsnpintron \ -operation g,r,r,r,f,f,f,f,f,f,f,f,f,f,f \ -nastring . -vcfinput -polish perl /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/germ_filter.pl -i ${outdir}/${sample}.hg19_multianno.txt -s /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/refdata/Select_RefSeq_HGNC_MANE.txt ${outdir}/${sample}.germ.xls