diff --git a/modules/gatk4/createsomaticpanelofnormals/functions.nf b/modules/gatk4/createsomaticpanelofnormals/functions.nf new file mode 100644 index 00000000..85628ee0 --- /dev/null +++ b/modules/gatk4/createsomaticpanelofnormals/functions.nf @@ -0,0 +1,78 @@ +// +// Utility functions used in nf-core DSL2 module files +// + +// +// Extract name of software tool from process name using $task.process +// +def getSoftwareName(task_process) { + return task_process.tokenize(':')[-1].tokenize('_')[0].toLowerCase() +} + +// +// Extract name of module from process name using $task.process +// +def getProcessName(task_process) { + return task_process.tokenize(':')[-1] +} + +// +// Function to initialise default values and to generate a Groovy Map of available options for nf-core modules +// +def initOptions(Map args) { + def Map options = [:] + options.args = args.args ?: '' + options.args2 = args.args2 ?: '' + options.args3 = args.args3 ?: '' + options.publish_by_meta = args.publish_by_meta ?: [] + options.publish_dir = args.publish_dir ?: '' + options.publish_files = args.publish_files + options.suffix = args.suffix ?: '' + return options +} + +// +// Tidy up and join elements of a list to return a path string +// +def getPathFromList(path_list) { + def paths = path_list.findAll { item -> !item?.trim().isEmpty() } // Remove empty entries + paths = paths.collect { it.trim().replaceAll("^[/]+|[/]+\$", "") } // Trim whitespace and trailing slashes + return paths.join('/') +} + +// +// Function to save/publish module results +// +def saveFiles(Map args) { + def ioptions = initOptions(args.options) + def path_list = [ ioptions.publish_dir ?: args.publish_dir ] + + // Do not publish versions.yml unless running from pytest workflow + if (args.filename.equals('versions.yml') && !System.getenv("NF_CORE_MODULES_TEST")) { + return null + } + if (ioptions.publish_by_meta) { + def key_list = ioptions.publish_by_meta instanceof List ? ioptions.publish_by_meta : args.publish_by_meta + for (key in key_list) { + if (args.meta && key instanceof String) { + def path = key + if (args.meta.containsKey(key)) { + path = args.meta[key] instanceof Boolean ? "${key}_${args.meta[key]}".toString() : args.meta[key] + } + path = path instanceof String ? path : '' + path_list.add(path) + } + } + } + if (ioptions.publish_files instanceof Map) { + for (ext in ioptions.publish_files) { + if (args.filename.endsWith(ext.key)) { + def ext_list = path_list.collect() + ext_list.add(ext.value) + return "${getPathFromList(ext_list)}/$args.filename" + } + } + } else if (ioptions.publish_files == null) { + return "${getPathFromList(path_list)}/$args.filename" + } +} diff --git a/modules/gatk4/createsomaticpanelofnormals/main.nf b/modules/gatk4/createsomaticpanelofnormals/main.nf new file mode 100644 index 00000000..66dfda23 --- /dev/null +++ b/modules/gatk4/createsomaticpanelofnormals/main.nf @@ -0,0 +1,47 @@ +// Import generic module functions +include { initOptions; saveFiles; getSoftwareName; getProcessName } from './functions' + +params.options = [:] +options = initOptions(params.options) + +process GATK4_CREATESOMATICPANELOFNORMALS { + tag "$meta.id" + label 'process_low' + publishDir "${params.outdir}", + mode: params.publish_dir_mode, + saveAs: { filename -> saveFiles(filename:filename, options:params.options, publish_dir:getSoftwareName(task.process), meta:meta, publish_by_meta:['id']) } + + conda (params.enable_conda ? "bioconda::gatk4=4.2.0.0" : null) + if (workflow.containerEngine == 'singularity' && !params.singularity_pull_docker_container) { + container "https://depot.galaxyproject.org/singularity/gatk4:4.2.0.0--0" + } else { + container "quay.io/biocontainers/gatk4:4.2.0.0--0" + } + + input: + tuple val(meta), path(genomicsdb) + path fasta + path fastaidx + path dict + + output: + tuple val(meta), path("*.vcf.gz"), emit: vcf + tuple val(meta), path("*.tbi") , emit: tbi + path "versions.yml" , emit: versions + + script: + def prefix = options.suffix ? "${meta.id}${options.suffix}" : "${meta.id}" + """ + gatk \\ + CreateSomaticPanelOfNormals \\ + -R $fasta \\ + -V gendb://$genomicsdb \\ + -O ${prefix}.vcf.gz \\ + $options.args + + cat <<-END_VERSIONS > versions.yml + ${getProcessName(task.process)}: + ${getSoftwareName(task.process)}: \$(echo \$(gatk --version 2>&1) | sed 's/^.*(GATK) v//; s/ .*\$//') + END_VERSIONS + """ +} diff --git a/modules/gatk4/createsomaticpanelofnormals/meta.yml b/modules/gatk4/createsomaticpanelofnormals/meta.yml new file mode 100644 index 00000000..f0199ed6 --- /dev/null +++ b/modules/gatk4/createsomaticpanelofnormals/meta.yml @@ -0,0 +1,55 @@ +name: gatk4_createsomaticpanelofnormals +description: Create a panel of normals contraining germline and artifactual sites for use with mutect2. +keywords: + - gatk4 + - createsomaticpanelofnormals + - panelofnormals +tools: + - gatk4: + description: | + Developed in the Data Sciences Platform at the Broad Institute, the toolkit offers a wide variety of tools + with a primary focus on variant discovery and genotyping. Its powerful processing engine + and high-performance computing features make it capable of taking on projects of any size. + homepage: https://gatk.broadinstitute.org/hc/en-us + documentation: https://gatk.broadinstitute.org/hc/en-us/categories/360002369672s + doi: 10.1158/1538-7445.AM2017-3590 + +input: + - meta: + type: map + description: | + Groovy Map containing sample information + e.g. [ id:'test'] + - genoomicsdb: + type: directory + description: genomicsDB workspace that contains the samples to create the somatic panel of normals with. + pattern: "*_genomicsDBworkspace" + - fasta: + type: file + description: The reference fasta file + pattern: "*.fasta" + - fastaidx: + type: file + description: Index of reference fasta file + pattern: "fasta.fai" + - dict: + type: file + description: GATK sequence dictionary + pattern: "*.dict" + +output: + - vcf: + type: file + description: panel of normal as compressed vcf file + pattern: "*.vcf.gz" + - tbi: + type: file + description: Index of vcf file + pattern: "*vcf.gz.tbi" + - versions: + type: file + description: File containing software versions + pattern: "versions.yml" + +authors: + - "@GCJMackenzie" diff --git a/tests/config/pytest_modules.yml b/tests/config/pytest_modules.yml index 8ffc958b..fac11d0e 100644 --- a/tests/config/pytest_modules.yml +++ b/tests/config/pytest_modules.yml @@ -406,6 +406,10 @@ gatk4/createsequencedictionary: - modules/gatk4/createsequencedictionary/** - tests/modules/gatk4/createsequencedictionary/** +gatk4/createsomaticpanelofnormals: + - modules/gatk4/createsomaticpanelofnormals/** + - tests/modules/gatk4/createsomaticpanelofnormals/** + gatk4/fastqtosam: - modules/gatk4/fastqtosam/** - tests/modules/gatk4/fastqtosam/** diff --git a/tests/modules/gatk4/createsomaticpanelofnormals/main.nf b/tests/modules/gatk4/createsomaticpanelofnormals/main.nf new file mode 100644 index 00000000..34fc9847 --- /dev/null +++ b/tests/modules/gatk4/createsomaticpanelofnormals/main.nf @@ -0,0 +1,72 @@ +#!/usr/bin/env nextflow + +nextflow.enable.dsl = 2 + +include { GATK4_CREATESOMATICPANELOFNORMALS } from '../../../../modules/gatk4/createsomaticpanelofnormals/main.nf' addParams( options: [suffix:'.pon'] ) + +workflow test_gatk4_createsomaticpanelofnormals { + maindir = file('test_genomicsdb') + subdir1 = file('test_genomicsdb/chr22$1$40001') + subdir2 = file('test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448') + subdir3 = file('test_genomicsdb/chr22$1$40001/genomicsdb_meta_dir') + subdir2.mkdirs() + subdir3.mkdirs() + + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/__tiledb_workspace.tdb' , checkIfExists: true).copyTo(maindir) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/vcfheader.vcf' , checkIfExists: true).copyTo(maindir) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/vidmap.json' , checkIfExists: true).copyTo(maindir) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/callset.json' , checkIfExists: true).copyTo(maindir) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/.__consolidation_lock' , checkIfExists: true).copyTo(subdir1) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__array_schema.tdb' , checkIfExists: true).copyTo(subdir1) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/genomicsdb_meta_dir/genomicsdb_column_bounds.json' , checkIfExists: true).copyTo(subdir3) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/genomicsdb_meta_dir/genomicsdb_meta_2b25a6c2-cb94-4a4a-9005-acb7c595d322.json' , checkIfExists: true).copyTo(subdir3) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/AD.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/AD_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/ALT.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/ALT_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/BaseQRankSum.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/DB.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/DP.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/DP_FORMAT.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/END.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/ExcessHet.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/FILTER.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/FILTER_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/GQ.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/GT.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/GT_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/ID.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/ID_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/InbreedingCoeff.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/MIN_DP.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/MLEAC.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/MLEAC_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/MLEAF.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/MLEAF_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/MQRankSum.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/PGT.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/PGT_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/PID.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/PID_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/PL.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/PL_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/PS.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/QUAL.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/RAW_MQandDP.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/REF.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/REF_var.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/ReadPosRankSum.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/SB.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/__book_keeping.tdb.gz' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/__coords.tdb' , checkIfExists: true).copyTo(subdir2) + file( 'https://raw.githubusercontent.com/nf-core/test-datasets/modules/data/genomics/homo_sapiens/illumina/gatk/test_genomicsdb/chr22$1$40001/__3cf81648-433d-4464-be08-23d082445c9b139814474716928_1630588248448/__tiledb_fragment.tdb' , checkIfExists: true).copyTo(subdir2) + + input = [ [ id:'test' ], // meta map + file( maindir , checkIfExists: true)] + + fasta = file(params.test_data['homo_sapiens']['genome']['genome_fasta'], checkIfExists: true) + fastaidx = file(params.test_data['homo_sapiens']['genome']['genome_fasta_fai'], checkIfExists: true) + dict = file(params.test_data['homo_sapiens']['genome']['genome_dict'], checkIfExists: true) + + GATK4_CREATESOMATICPANELOFNORMALS ( input, fasta, fastaidx, dict ) +} diff --git a/tests/modules/gatk4/createsomaticpanelofnormals/test.yml b/tests/modules/gatk4/createsomaticpanelofnormals/test.yml new file mode 100644 index 00000000..d3e6c537 --- /dev/null +++ b/tests/modules/gatk4/createsomaticpanelofnormals/test.yml @@ -0,0 +1,9 @@ +- name: gatk4 createsomaticpanelofnormals test_gatk4_createsomaticpanelofnormals + command: nextflow run tests/modules/gatk4/createsomaticpanelofnormals -entry test_gatk4_createsomaticpanelofnormals -c tests/config/nextflow.config + tags: + - gatk4 + - gatk4/createsomaticpanelofnormals + files: + - path: output/gatk4/test.pon.vcf.gz + - path: output/gatk4/test.pon.vcf.gz.tbi + md5sum: d88d2b745c9226ddf284e3494db8b9d2