diff --git a/variants/annotvcf.sh b/variants/annotvcf.sh index 9d7595e930f1a3d91adf2b0841c21fa2abbe7146..1ca2a785324c0a2969fc28c29e3f7e6432dd5517 100644 --- a/variants/annotvcf.sh +++ b/variants/annotvcf.sh @@ -19,7 +19,7 @@ do h) usage;; esac done -function join_by { local IFS="$1"; shift; echo "$*"; } + shift $(($OPTIND -1)) source /etc/profile.d/modules.sh @@ -33,9 +33,9 @@ fi if [[ $index_path == '/project/shared/bicf_workflow_ref/GRCh38' ]] then tabix ${unionvcf} - bcftools annotate -Oz -a ${index_path}/ExAC.vcf.gz -o ${pair_id}.exac.vcf.gz --columns CHROM,POS,AC_Het,AC_Hom,AC_Hemi,AC_Adj,AN_Adj,AC_POPMAX,AN_POPMAX,POPMAX ${unionvcf} - tabix ${pair_id}.exac.vcf.gz - java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.exac.vcf.gz | java -jar $SNPEFF_HOME/SnpSift.jar annotate -id ${index_path}/dbSnp.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CLNSIG,CLNDSDB,CLNDSDBID,CLNDBN,CLNREVSTAT,CLNACC ${index_path}/clinvar.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CNT ${index_path}/cosmic.vcf.gz - | java -Xmx10g -jar $SNPEFF_HOME/SnpSift.jar dbnsfp -v -db ${index_path}/dbNSFP.txt.gz - |bgzip > ${pair_id}.annot.vcf.gz + bcftools annotate -Oz -a ${index_path}/gnomad.exomes.r2.0.2.HG38.vcf.gz -o ${pair_id}.gnomad.vcf.gz --columns CHROM,POS,AF,AF_raw,AF_POPMAX,POPMAX ${unionvcf} + tabix ${pair_id}.gnomad.vcf.gz + java -Xmx10g -jar $SNPEFF_HOME/snpEff.jar -no-intergenic -lof -c $SNPEFF_HOME/snpEff.config GRCh38.86 ${pair_id}.gnomad.vcf.gz | java -jar $SNPEFF_HOME/SnpSift.jar annotate -id ${index_path}/dbSnp.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CLNSIG,CLNDSDB,CLNDSDBID,CLNDBN,CLNREVSTAT,CLNACC ${index_path}/clinvar.vcf.gz - | java -jar $SNPEFF_HOME/SnpSift.jar annotate -info CNT ${index_path}/cosmic.vcf.gz - | java -Xmx10g -jar $SNPEFF_HOME/SnpSift.jar dbnsfp -v -db ${index_path}/dbNSFP.txt.gz - |bgzip > ${pair_id}.annot.vcf.gz tabix ${pair_id}.annot.vcf.gz else if [[ $index_path == '/project/shared/bicf_workflow_ref/GRCm38' ]]