Annotation of genetic variants detected from human genome hg19 and hg38.
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  1. task annovar {
  2. File vcf
  3. String basename = basename(vcf,".vcf")
  4. String hg
  5. File annovar_database
  6. String docker
  7. String cluster_config
  8. String disk_size
  9. command <<<
  10. set -o pipefail
  11. set -e
  12. nt=$(nproc)
  13. awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${basename}.PASS.vcf
  14. if [ ${hg} == "hg38" ]; then
  15. /installations/annovar/table_annovar.pl ${basename}.PASS.vcf \
  16. ${annovar_database} -buildver ${hg} \
  17. -out ${basename} -remove \
  18. -protocol refGene,ensGene,knownGene,rmsk,esp6500siv2_all,ALL.sites.2015_08,AFR.sites.2015_08,AMR.sites.2015_08,EAS.sites.2015_08,EUR.sites.2015_08,SAS.sites.2015_08,avsnp147,dbnsfp33a,clinvar_20210501,gnomad_genome,dbscsnv11,dbnsfp31a_interpro \
  19. -operation g,g,g,r,f,f,f,f,f,f,f,f \
  20. -nastring . -vcfinput -thread $nt
  21. fi
  22. # 1000g2015aug contains 6 datasets: ALL.sites.2015_08,AFR.sites.2015_08,AMR.sites.2015_08,EAS.sites.2015_08,EUR.sites.2015_08,SAS.sites.2015_08
  23. #-protocol refGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20210501 \
  24. #-operation g,r,r,f,f,f,f,f,f,f \
  25. if [ ${hg} == "hg19" ]; then
  26. /installations/annovar/table_annovar.pl ${basename}.PASS.vcf \
  27. ${annovar_database} -buildver ${hg} \
  28. -out ${basename} -remove \
  29. -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,snp138,cosmic78,intervar_20170202,popfreq_all_20150413,clinvar_20190305 \
  30. -operation g,r,r,f,f,f,f,f,f \
  31. -nastring . -vcfinput -thread $nt
  32. fi
  33. >>>
  34. runtime {
  35. docker: docker
  36. cluster: cluster_config
  37. systemDisk: "cloud_ssd 40"
  38. dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
  39. }
  40. output {
  41. File pass_vcf = "${basename}.PASS.vcf"
  42. File avinput = "${basename}.avinput"
  43. File multianno_txt = "${basename}.${hg}_multianno.txt"
  44. File multianno_vcf = "${basename}.${hg}_multianno.vcf"
  45. }
  46. }