VEP (Variant Effect Predictor) predicts the functional effects of genomic variants. The annotated VCF will be converted into MAF based on vcf2maf.
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- task vcf2maf {
-
- File vcf
- String basename = basename(vcf,".vcf")
- String tumor_id
- String normal_id
- File ref_dir
- String fasta
- String vep_path
- File cache
- String ncbi_build
- String species
- Boolean only_pass
- String docker
- String cluster_config
- String disk_size
-
-
- command <<<
- set -o pipefail
- set -e
- nt=$(nproc)
-
- if [ only_pass ]; then
- awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > INPUT.vcf
- else
- cp ${vcf} INPUT.vcf
- fi
-
- perl /opt/mskcc-vcf2maf/vcf2maf.pl \
- --input-vcf INPUT.vcf --output-maf ${basename}.maf \
- --tumor-id ${tumor_id} --normal-id ${normal_id} \
- --ref-fasta ${ref_dir}/${fasta} \
- --vep-path ${vep_path} \
- --vep-data ${cache} \
- --ncbi-build ${ncbi_build} \
- --species ${species} \
- --vep-fork $nt
- >>>
-
- runtime {
- docker: docker
- cluster: cluster_config
- systemDisk: "cloud_ssd 40"
- dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
- }
-
- output {
- File maf = "${basename}.maf"
- }
- }
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