Germline & Somatic short variant discovery (SNVs + Indels) for WGS & WES.
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  1. {
  2. "tumor_fastq_1": "",
  3. "tumor_fastq_2": "",
  4. "normal_fastq_1": "",
  5. "normal_fastq_2": "",
  6. "tumor_deduped_bam": "",
  7. "normal_deduped_bam": "",
  8. "pl": "ILLUMINAL",
  9. "fasta": "GRCh38.d1.vd1.fa",
  10. "ref_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  11. "dbsnp": "dbsnp_146.hg38.vcf",
  12. "dbsnp_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  13. "SENTIEON_INSTALL_DIR": "/opt/sentieon-genomics",
  14. "SENTIEON_LICENSE": "192.168.0.55:8990",
  15. "dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
  16. "db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
  17. "hg": "hg38",
  18. "annovar_database": "oss://pgx-reference-data/annovar/",
  19. "germline_resource": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz",
  20. "germline_resource_tbi": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz.tbi",
  21. "regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Padded.bed",
  22. "interval_padding": "0",
  23. "sentieon_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/sentieon-genomics:v202010.02",
  24. "varscan_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/varscan2:v2.4.3",
  25. "pindel_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/pindel:0.2.5b9_3",
  26. "samtools_docker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/samtools:v1.3.1",
  27. "annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2019.10",
  28. "vep_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/vep:v104.0",
  29. "cache": "oss://pgx-reference-data/ensembl_vep/",
  30. "vep_path": "/opt/vep/ensembl-vep",
  31. "species": "homo_sapiens_merged",
  32. "vcf2maf_path": "/opt/mskcc-vcf2maf",
  33. "tnseq_pon": "",
  34. "tnscope_pon": "",
  35. "disk_size": "200",
  36. "cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc",
  37. "haplotyper": false,
  38. "pindel": false,
  39. "tnseq": false,
  40. "tnscope": false,
  41. "varscan": false,
  42. "annovar": false,
  43. "vep": false,
  44. "only_pass": true,
  45. "input_fastq": false,
  46. "input_bam": false
  47. }