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Commit 52a67c4b authored by Peter van 't Hof's avatar Peter van 't Hof
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Merge branch 'fix-sample-names' into 'develop' 

Fix sample names on VCFs used in by tool tests

 * Replaces identifiers (e.g. Child_something) with `Sample_101` etc. 
 * Some proper temp file creation for more tools 

See merge request !259
parents 911948ed 4dcbb9cd
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public/biopet-tools/src/test/resources/VEP_oneline.vcf
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View file @ 52a67c4b
##fileformat=VCFv4.1
##reference=file:///data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta
##UnifiedGenotyperCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Sat Jun 14 16:58:07 CEST 2014",Epoch=1402757887567,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/Child_7006504.ug.chrom_merged.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.snp.recal) tranches_file=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.snp.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=SNP filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##UnifiedGenotyperCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Sat Jun 14 17:01:08 CEST 2014",Epoch=1402758068552,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.snp.recalibrated.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.indel.recal) tranches_file=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.indel.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=INDEL filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##UnifiedGenotyperCommandLine=<ID=UnifiedGenotyper,CommandLineOptions="analysis_type=UnifiedGenotyper input_file=[/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Child_7006504.ready.bam, /data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Mother_7006508.ready.bam, /data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Father_7006506.ready.bam] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=[chrM] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false genotype_likelihoods_model=BOTH pcr_error_rate=1.0E-4 computeSLOD=false annotateNDA=false pair_hmm_implementation=LOGLESS_CACHING min_base_quality_score=17 max_deletion_fraction=0.05 allSitePLs=false min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 indelGapContinuationPenalty=10 indelGapOpenPenalty=45 indelHaplotypeSize=80 indelDebug=false ignoreSNPAlleles=false allReadsSP=false ignoreLaneInfo=false reference_sample_calls=(RodBinding name= source=UNBOUND) reference_sample_name=null sample_ploidy=2 min_quality_score=1 max_quality_score=40 site_quality_prior=20 min_power_threshold_for_calling=0.95 min_reference_depth=100 exclude_filtered_reference_sites=false output_mode=EMIT_VARIANTS_ONLY heterozygosity=0.001 indel_heterozygosity=1.25E-4 genotyping_mode=DISCOVERY standard_min_confidence_threshold_for_calling=20.0 standard_min_confidence_threshold_for_emitting=20.0 alleles=(RodBinding name= source=UNBOUND) max_alternate_alleles=6 input_prior=[] contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=EXACT_INDEPENDENT exactcallslog=null dbsnp=(RodBinding name=dbsnp source=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/dbsnp_137.hg19_nohap.vcf) comp=[] out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub onlyEmitSamples=[] debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false",Date="Sat Jun 14 15:20:24 CEST 2014",Epoch=1402752024377,Version=3.1-1-g07a4bf8>
##HaplotypeCallerCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Sat Jun 14 22:28:02 CEST 2014",Epoch=1402777682364,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/Child_7006504.hc.chrom_merged.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.snp.recal) tranches_file=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.snp.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=SNP filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##HaplotypeCallerCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Sat Jun 14 22:31:13 CEST 2014",Epoch=1402777873043,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.snp.recalibrated.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.indel.recal) tranches_file=/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.indel.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=INDEL filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##HaplotypeCallerCommandLine=<ID=HaplotypeCaller,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[/data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Child_7006504.ready.bam, /data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Mother_7006508.ready.bam, /data/DIV5/KG/kg_wes_mr/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Father_7006506.ready.bam] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=[chrM] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN graphOutput=null bamOutput=null bam_compression=null disable_bam_indexing=null generate_md5=null simplifyBAM=null bamWriterType=CALLED_HAPLOTYPES dbsnp=(RodBinding name=dbsnp source=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/dbsnp_137.hg19_nohap.vcf) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[ClippingRankSumTest, DepthPerSampleHC] excludeAnnotation=[SpanningDeletions, TandemRepeatAnnotator] heterozygosity=0.001 indel_heterozygosity=1.25E-4 genotyping_mode=DISCOVERY standard_min_confidence_threshold_for_calling=20.0 standard_min_confidence_threshold_for_emitting=20.0 alleles=(RodBinding name= source=UNBOUND) max_alternate_alleles=6 input_prior=[] contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=EXACT_INDEPENDENT exactcallslog=null kmerSize=[10, 25] dontIncreaseKmerSizesForCycles=false numPruningSamples=1 recoverDanglingHeads=false dontRecoverDanglingTails=false consensus=false emitRefConfidence=NONE GVCFGQBands=[5, 20, 60] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 minPruning=2 gcpHMM=10 includeUmappedReads=false useAllelesTrigger=false useFilteredReadsForAnnotations=false phredScaledGlobalReadMismappingRate=45 maxNumHaplotypesInPopulation=128 mergeVariantsViaLD=false pair_hmm_implementation=LOGLESS_CACHING keepRG=null justDetermineActiveRegions=false dontGenotype=false errorCorrectKmers=false debug=false debugGraphTransformations=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false allowCyclesInKmerGraphToGeneratePaths=false noFpga=false errorCorrectReads=false kmerLengthForReadErrorCorrection=25 minObservationsForKmerToBeSolid=20 pcr_indel_model=CONSERVATIVE activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false",Date="Sat Jun 14 15:26:18 CEST 2014",Epoch=1402752378803,Version=3.1-1-g07a4bf8>
##INFO=<ID=DN,Number=1,Type=Integer,Description="inDbSNP">
##INFO=<ID=DT,Number=0,Type=Flag,Description="in1000Genomes">
##INFO=<ID=DA,Number=1,Type=String,Description="allelesDBSNP">
......@@ -164,5 +158,5 @@
##contig=<ID=chrUn_gl000248,length=39786>
##contig=<ID=chrUn_gl000249,length=38502>
##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence type as predicted by VEP. Format: Allele|Gene|Feature|Feature_type|Consequence|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|AA_MAF|EA_MAF|ALLELE_NUM|DISTANCE|STRAND|CLIN_SIG|SYMBOL|SYMBOL_SOURCE|GMAF|HGVSc|HGVSp|AFR_MAF|AMR_MAF|ASN_MAF|EUR_MAF|PUBMED">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Child_7006504 Father_7006506 Mother_7006508
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_101 Sample_102 Sample_103
chr1 871042 rs199537431 C CA 1541.12 PASS FG=intron;FD=unknown;GM=NM_152486.2;GL=SAMD11;CP=0.000;CG=-1.630;CN=2294,3274,30362,112930;DSP=107;AC=2;AF=0.333;AN=6;BaseQRankSum=4.068;DB;DP=124;FS=1.322;MLEAC=2;MLEAF=0.333;MQ=60.0;MQ0=0;MQRankSum=-0.197;QD=19.03;RPA=1,2;RU=A;ReadPosRankSum=-0.424;STR;VQSLOD=0.079;culprit=FS;GATKCaller=UG,HC;CSQ=A|ENSESTG00000013623|ENSESTT00000034081|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||||A:0.0078|ENSESTT00000034081.1:c.306-110_306-109insA||||||,A|CCDS2.2|CCDS2.2|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||||A:0.0078|CCDS2.2:c.306-110_306-109insA||||||,A|ENSESTG00000013623|ENSESTT00000034116|Transcript|upstream_gene_variant||||||rs199537431|||1|3610|1||||A:0.0078|||||||,A|ENSESTG00000013623|ENSESTT00000034091|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||||A:0.0078|ENSESTT00000034091.1:c.306-110_306-109insA||||||,A|ENSESTG00000013623|ENSESTT00000034102|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||||A:0.0078|ENSESTT00000034102.1:c.29-110_29-109insA||||||,A|148398|XM_005244723.1|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||SAMD11||A:0.0078|XM_005244723.1:c.306-110_306-109insA||||||,A|148398|XM_005244724.1|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||SAMD11||A:0.0078|XM_005244724.1:c.306-110_306-109insA||||||,A|148398|XM_005244725.1|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||SAMD11||A:0.0078|XM_005244725.1:c.306-110_306-109insA||||||,A|148398|NM_152486.2|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||SAMD11||A:0.0078|NM_152486.2:c.306-110_306-109insA||||||,A|148398|XM_005244727.1|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||SAMD11||A:0.0078|XM_005244727.1:c.306-110_306-109insA||||||,A|148398|XM_005244726.1|Transcript|intron_variant&feature_elongation||||||rs199537431|||1||1||SAMD11||A:0.0078|XM_005244726.1:c.306-110_306-109insA|||||| GT:AD:DP:GQ:PL 0/1:24,21:45:99:838,0,889 0/1:17,19:36:99:744,0,603 0/0:42,0:43:99:0,126,1717
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##fileformat=VCFv4.1
##reference=file:///data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta
##UnifiedGenotyperCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Wed Jul 09 06:04:23 CEST 2014",Epoch=1404878663625,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/Child_7006504.ug.chrom_merged.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.snp.recal) tranches_file=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.snp.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=SNP filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##UnifiedGenotyperCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Wed Jul 09 06:07:15 CEST 2014",Epoch=1404878835287,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.snp.recalibrated.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.indel.recal) tranches_file=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_ug/Child_7006504.indel.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=INDEL filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##UnifiedGenotyperCommandLine=<ID=UnifiedGenotyper,CommandLineOptions="analysis_type=UnifiedGenotyper input_file=[/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Child_7006504.ready.bam, /data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Mother_7006508.ready.bam, /data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Father_7006506.ready.bam] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=[chrM] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false genotype_likelihoods_model=BOTH pcr_error_rate=1.0E-4 computeSLOD=false annotateNDA=false pair_hmm_implementation=LOGLESS_CACHING min_base_quality_score=17 max_deletion_fraction=0.05 allSitePLs=false min_indel_count_for_genotyping=5 min_indel_fraction_per_sample=0.25 indelGapContinuationPenalty=10 indelGapOpenPenalty=45 indelHaplotypeSize=80 indelDebug=false ignoreSNPAlleles=false allReadsSP=false ignoreLaneInfo=false reference_sample_calls=(RodBinding name= source=UNBOUND) reference_sample_name=null sample_ploidy=2 min_quality_score=1 max_quality_score=40 site_quality_prior=20 min_power_threshold_for_calling=0.95 min_reference_depth=100 exclude_filtered_reference_sites=false output_mode=EMIT_VARIANTS_ONLY heterozygosity=0.001 indel_heterozygosity=1.25E-4 genotyping_mode=DISCOVERY standard_min_confidence_threshold_for_calling=20.0 standard_min_confidence_threshold_for_emitting=20.0 alleles=(RodBinding name= source=UNBOUND) max_alternate_alleles=6 input_prior=[] contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=EXACT_INDEPENDENT exactcallslog=null dbsnp=(RodBinding name=dbsnp source=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/dbsnp_137.hg19_nohap.vcf) comp=[] out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub onlyEmitSamples=[] debug_file=null metrics_file=null annotation=[] excludeAnnotation=[] filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false",Date="Wed Jul 09 04:32:56 CEST 2014",Epoch=1404873176100,Version=3.1-1-g07a4bf8>
##HaplotypeCallerCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Wed Jul 09 10:12:42 CEST 2014",Epoch=1404893562589,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/Child_7006504.hc.chrom_merged.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.snp.recal) tranches_file=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.snp.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=SNP filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##HaplotypeCallerCommandLine=<ID=ApplyRecalibration,Version=3.1-1-g07a4bf8,Date="Wed Jul 09 10:15:50 CEST 2014",Epoch=1404893750488,CommandLineOptions="analysis_type=ApplyRecalibration input_file=[] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false input=[(RodBinding name=input source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.snp.recalibrated.vcf)] recal_file=(RodBinding name=recal_file source=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.indel.recal) tranches_file=/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/recalibration_hc/Child_7006504.indel.tranches out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub ts_filter_level=99.0 lodCutoff=null ignore_filter=null excludeFiltered=false mode=INDEL filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##HaplotypeCallerCommandLine=<ID=HaplotypeCaller,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[/data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Child_7006504.ready.bam, /data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Mother_7006508.ready.bam, /data/DIV5/KG/kg_wes_mr_devel/runs/trio_7006504_run_00/trio_7006504/phase2/bams/Father_7006506.ready.bam] showFullBamList=false read_buffer_size=null phone_home=AWS gatk_key=null tag=NA read_filter=[] intervals=[chrM] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=250 baq=OFF baqGapOpenPenalty=40.0 fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null disable_auto_index_creation_and_locking_when_reading_rods=false num_threads=1 num_cpu_threads_per_data_thread=1 num_io_threads=0 monitorThreadEfficiency=false num_bam_file_handles=null read_group_black_list=null pedigree=[] pedigreeString=[] pedigreeValidationType=STRICT allow_intervals_with_unindexed_bam=false generateShadowBCF=false variant_index_type=DYNAMIC_SEEK variant_index_parameter=-1 logging_level=INFO log_to_file=null help=false version=false out=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub no_cmdline_in_header=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub bcf=org.broadinstitute.sting.gatk.io.stubs.VariantContextWriterStub likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN graphOutput=null bamOutput=null bam_compression=null disable_bam_indexing=null generate_md5=null simplifyBAM=null bamWriterType=CALLED_HAPLOTYPES dbsnp=(RodBinding name=dbsnp source=/data/DIV5/KG/references/gatk_bundle_2.5/hg19_nohap/dbsnp_137.hg19_nohap.vcf) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[ClippingRankSumTest, DepthPerSampleHC] excludeAnnotation=[SpanningDeletions, TandemRepeatAnnotator] heterozygosity=0.001 indel_heterozygosity=1.25E-4 genotyping_mode=DISCOVERY standard_min_confidence_threshold_for_calling=20.0 standard_min_confidence_threshold_for_emitting=20.0 alleles=(RodBinding name= source=UNBOUND) max_alternate_alleles=6 input_prior=[] contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=EXACT_INDEPENDENT exactcallslog=null kmerSize=[10, 25] dontIncreaseKmerSizesForCycles=false numPruningSamples=1 recoverDanglingHeads=false dontRecoverDanglingTails=false consensus=false emitRefConfidence=NONE GVCFGQBands=[5, 20, 60] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 minPruning=2 gcpHMM=10 includeUmappedReads=false useAllelesTrigger=false useFilteredReadsForAnnotations=false phredScaledGlobalReadMismappingRate=45 maxNumHaplotypesInPopulation=128 mergeVariantsViaLD=false pair_hmm_implementation=LOGLESS_CACHING keepRG=null justDetermineActiveRegions=false dontGenotype=false errorCorrectKmers=false debug=false debugGraphTransformations=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false allowCyclesInKmerGraphToGeneratePaths=false noFpga=false errorCorrectReads=false kmerLengthForReadErrorCorrection=25 minObservationsForKmerToBeSolid=20 pcr_indel_model=CONSERVATIVE activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false",Date="Wed Jul 09 04:32:56 CEST 2014",Epoch=1404873176271,Version=3.1-1-g07a4bf8>
##INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed">
##INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed">
##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes">
......@@ -130,5 +124,5 @@
##contig=<ID=chrUn_gl000247,length=36422>
##contig=<ID=chrUn_gl000248,length=39786>
##contig=<ID=chrUn_gl000249,length=38502>
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Child_7006504 Father_7006506 Mother_7006508
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT Sample_101 Sample_102 Sample_103
chr1 14599 . T A 35.13 VQSRTrancheSNP99.00to99.90 AC=4;AF=1.0;AN=4;BaseQRankSum=-0.736;DP=3;Dels=0.0;FS=0.0;HaplotypeScore=0.4161;MLEAC=4;MLEAF=1.0;MQ=20.77;MQ0=0;MQRankSum=0.736;QD=11.71;ReadPosRankSum=-0.736;VQSLOD=0.076;culprit=FS;GATKCaller=UG GT:AD:DP:GQ:PL ./.:.:.:.:. 1/1:0,1:1:3:32,3,0 1/1:1,1:2:3:27,3,0
public/biopet-tools/src/test/resources/unvepped.vcf.gz
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public/biopet-tools/src/test/resources/unvepped.vcf.gz.tbi
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public/biopet-tools/src/test/scala/nl/lumc/sasc/biopet/tools/BastyGenerateFastaTest.scala
+ 9
− 9
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......@@ -35,7 +35,7 @@ class BastyGenerateFastaTest extends TestNGSuite with MockitoSugar with Matchers
val tmppath = tmp.getAbsolutePath
tmp.deleteOnExit()
val arguments = Array("-V", chrQ_path, "--outputVariants", tmppath, "--sampleName", "Child_7006504", "--reference", chrQRef_path, "--outputName", "test")
val arguments = Array("-V", chrQ_path, "--outputVariants", tmppath, "--sampleName", "Sample_101", "--reference", chrQRef_path, "--outputName", "test")
main(arguments)
}
......@@ -45,7 +45,7 @@ class BastyGenerateFastaTest extends TestNGSuite with MockitoSugar with Matchers
val tmppath = tmp.getAbsolutePath
tmp.deleteOnExit()
val arguments = Array("-V", chrQ_path, "--outputVariants", tmppath, "--bamFile", bam_path, "--sampleName", "Child_7006504", "--reference", chrQRef_path, "--outputName", "test")
val arguments = Array("-V", chrQ_path, "--outputVariants", tmppath, "--bamFile", bam_path, "--sampleName", "Sample_101", "--reference", chrQRef_path, "--outputName", "test")
main(arguments)
}
......@@ -55,7 +55,7 @@ class BastyGenerateFastaTest extends TestNGSuite with MockitoSugar with Matchers
val tmppath = tmp.getAbsolutePath
tmp.deleteOnExit()
val arguments = Array("-V", chrQ_path, "--outputConsensus", tmppath, "--outputConsensusVariants", tmppath, "--bamFile", bam_path, "--sampleName", "Child_7006504", "--reference", chrQRef_path, "--outputName", "test")
val arguments = Array("-V", chrQ_path, "--outputConsensus", tmppath, "--outputConsensusVariants", tmppath, "--bamFile", bam_path, "--sampleName", "Sample_101", "--reference", chrQRef_path, "--outputName", "test")
main(arguments)
}
......@@ -63,13 +63,13 @@ class BastyGenerateFastaTest extends TestNGSuite with MockitoSugar with Matchers
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
val child = mock[Args]
when(child.sampleName) thenReturn "Child_7006504"
val father = mock[Args]
when(father.sampleName) thenReturn "Father_7006506"
val one = mock[Args]
when(one.sampleName) thenReturn "Sample_101"
val two = mock[Args]
when(two.sampleName) thenReturn "Sample_102"
getMaxAllele(record)(child) shouldBe "C-"
getMaxAllele(record)(father) shouldBe "CA"
getMaxAllele(record)(one) shouldBe "C-"
getMaxAllele(record)(two) shouldBe "CA"
}
......
public/biopet-tools/src/test/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBamTest.scala
+ 9
− 3
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......@@ -45,19 +45,25 @@ class CheckAllelesVcfInBamTest extends TestNGSuite with MockitoSugar with Matche
val rand = new Random()
@Test def testOutputTypeVcf() = {
val tmp_path = "/tmp/CheckAllesVcfInBam_" + rand.nextString(10) + ".vcf"
val tmp = File.createTempFile("CheckAllelesVcfInBam", ".vcf")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vcf, "-b", bam, "-s", "sample01", "-o", tmp_path)
main(arguments)
}
@Test def testOutputTypeVcfGz() = {
val tmp_path = "/tmp/CheckAllesVcfInBam_" + rand.nextString(10) + ".vcf.gz"
val tmp = File.createTempFile("CheckAllelesVcfInBam", ".vcf.gz")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vcf, "-b", bam, "-s", "sample01", "-o", tmp_path)
main(arguments)
}
@Test def testOutputTypeBcf() = {
val tmp_path = "/tmp/CheckAllesVcfInBam_" + rand.nextString(10) + ".bcf"
val tmp = File.createTempFile("CheckAllelesVcfInBam", ".bcf")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vcf, "-b", bam, "-s", "sample01", "-o", tmp_path)
main(arguments)
}
......
public/biopet-tools/src/test/scala/nl/lumc/sasc/biopet/tools/MergeAllelesTest.scala
+ 10
− 3
View file @ 52a67c4b
......@@ -15,6 +15,7 @@
*/
package nl.lumc.sasc.biopet.tools
import java.io.File
import java.nio.file.Paths
import org.scalatest.Matchers
......@@ -48,19 +49,25 @@ class MergeAllelesTest extends TestNGSuite with MockitoSugar with Matchers {
val rand = new Random()
@Test def testOutputTypeVcf() = {
val tmp_path = "/tmp/MergeAlleles_" + rand.nextString(10) + ".vcf"
val tmp = File.createTempFile("MergeAlleles", ".vcf")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vepped_path, "-o", tmp_path, "-R", reference)
main(arguments)
}
@Test def testOutputTypeVcfGz() = {
val tmp_path = "/tmp/MergeAlleles_" + rand.nextString(10) + ".vcf.gz"
val tmp = File.createTempFile("MergeAlleles", ".vcf.gz")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vepped_path, "-o", tmp_path, "-R", reference)
main(arguments)
}
@Test def testOutputTypeBcf() = {
val tmp_path = "/tmp/MergeAlleles_" + rand.nextString(10) + ".bcf"
val tmp = File.createTempFile("MergeAlleles", ".bcf")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vepped_path, "-o", tmp_path, "-R", reference)
main(arguments)
}
......
public/biopet-tools/src/test/scala/nl/lumc/sasc/biopet/tools/VcfFilterTest.scala
+ 36
− 30
View file @ 52a67c4b
......@@ -44,19 +44,25 @@ class VcfFilterTest extends TestNGSuite with MockitoSugar with Matchers {
val rand = new Random()
@Test def testOutputTypeVcf() = {
val tmp_path = "/tmp/VcfFilter_" + rand.nextString(10) + ".vcf"
val tmp = File.createTempFile("VcfFilter", ".vcf")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments: Array[String] = Array("-I", vepped_path, "-o", tmp_path)
main(arguments)
}
@Test def testOutputTypeBcf() = {
val tmp_path = "/tmp/VcfFilter_" + rand.nextString(10) + ".bcf"
val tmp = File.createTempFile("VcfFilter", ".bcf")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments: Array[String] = Array("-I", vepped_path, "-o", tmp_path)
main(arguments)
}
@Test def testOutputTypeVcfGz() = {
val tmp_path = "/tmp/VcfFilter_" + rand.nextString(10) + ".vcf.gz"
val tmp = File.createTempFile("VcfFilter", ".vcf.gz")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments: Array[String] = Array("-I", vepped_path, "-o", tmp_path)
main(arguments)
}
......@@ -65,20 +71,20 @@ class VcfFilterTest extends TestNGSuite with MockitoSugar with Matchers {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
hasGenotype(record, List(("Child_7006504", GenotypeType.HET))) shouldBe true
hasGenotype(record, List(("Child_7006504", GenotypeType.HOM_VAR))) shouldBe false
hasGenotype(record, List(("Child_7006504", GenotypeType.HOM_REF))) shouldBe false
hasGenotype(record, List(("Child_7006504", GenotypeType.NO_CALL))) shouldBe false
hasGenotype(record, List(("Child_7006504", GenotypeType.MIXED))) shouldBe false
hasGenotype(record, List(("Sample_101", GenotypeType.HET))) shouldBe true
hasGenotype(record, List(("Sample_101", GenotypeType.HOM_VAR))) shouldBe false
hasGenotype(record, List(("Sample_101", GenotypeType.HOM_REF))) shouldBe false
hasGenotype(record, List(("Sample_101", GenotypeType.NO_CALL))) shouldBe false
hasGenotype(record, List(("Sample_101", GenotypeType.MIXED))) shouldBe false
hasGenotype(record, List(("Mother_7006508", GenotypeType.HET))) shouldBe false
hasGenotype(record, List(("Mother_7006508", GenotypeType.HOM_VAR))) shouldBe false
hasGenotype(record, List(("Mother_7006508", GenotypeType.HOM_REF))) shouldBe true
hasGenotype(record, List(("Mother_7006508", GenotypeType.NO_CALL))) shouldBe false
hasGenotype(record, List(("Mother_7006508", GenotypeType.MIXED))) shouldBe false
hasGenotype(record, List(("Sample_103", GenotypeType.HET))) shouldBe false
hasGenotype(record, List(("Sample_103", GenotypeType.HOM_VAR))) shouldBe false
hasGenotype(record, List(("Sample_103", GenotypeType.HOM_REF))) shouldBe true
hasGenotype(record, List(("Sample_103", GenotypeType.NO_CALL))) shouldBe false
hasGenotype(record, List(("Sample_103", GenotypeType.MIXED))) shouldBe false
hasGenotype(record, List(("Mother_7006508", GenotypeType.HOM_REF), ("Child_7006504", GenotypeType.HET))) shouldBe true
hasGenotype(record, List(("Mother_7006508", GenotypeType.HET), ("Child_7006504", GenotypeType.HOM_REF))) shouldBe false
hasGenotype(record, List(("Sample_103", GenotypeType.HOM_REF), ("Sample_101", GenotypeType.HET))) shouldBe true
hasGenotype(record, List(("Sample_103", GenotypeType.HET), ("Sample_101", GenotypeType.HOM_REF))) shouldBe false
}
@Test def testMinQualScore() = {
......@@ -142,42 +148,42 @@ class VcfFilterTest extends TestNGSuite with MockitoSugar with Matchers {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
mustHaveVariant(record, List("Child_7006504")) shouldBe true
mustHaveVariant(record, List("Child_7006504", "Father_7006506")) shouldBe true
mustHaveVariant(record, List("Child_7006504", "Father_7006506", "Mother_7006508")) shouldBe false
mustHaveVariant(record, List("Sample_101")) shouldBe true
mustHaveVariant(record, List("Sample_101", "Sample_102")) shouldBe true
mustHaveVariant(record, List("Sample_101", "Sample_102", "Sample_103")) shouldBe false
}
@Test def testSameGenotype() = {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
notSameGenotype(record, "Child_7006504", "Father_7006506") shouldBe false
notSameGenotype(record, "Child_7006504", "Mother_7006508") shouldBe true
notSameGenotype(record, "Father_7006506", "Mother_7006508") shouldBe true
notSameGenotype(record, "Sample_101", "Sample_102") shouldBe false
notSameGenotype(record, "Sample_101", "Sample_103") shouldBe true
notSameGenotype(record, "Sample_102", "Sample_103") shouldBe true
}
@Test def testfilterHetVarToHomVar() = {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
filterHetVarToHomVar(record, "Child_7006504", "Father_7006506") shouldBe true
filterHetVarToHomVar(record, "Child_7006504", "Mother_7006508") shouldBe true
filterHetVarToHomVar(record, "Father_7006506", "Mother_7006508") shouldBe true
filterHetVarToHomVar(record, "Sample_101", "Sample_102") shouldBe true
filterHetVarToHomVar(record, "Sample_101", "Sample_103") shouldBe true
filterHetVarToHomVar(record, "Sample_102", "Sample_103") shouldBe true
}
@Test def testDeNovo() = {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
denovoInSample(record, "Child_7006504") shouldBe false
denovoInSample(record, "Father_7006506") shouldBe false
denovoInSample(record, "Mother_7006508") shouldBe false
denovoInSample(record, "Sample_101") shouldBe false
denovoInSample(record, "Sample_102") shouldBe false
denovoInSample(record, "Sample_103") shouldBe false
}
@Test def testResToDom() = {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
val trio = new Trio("Child_7006504", "Father_7006506", "Mother_7006508")
val trio = new Trio("Sample_101", "Sample_102", "Sample_103")
resToDom(record, List(trio)) shouldBe false
}
......@@ -185,7 +191,7 @@ class VcfFilterTest extends TestNGSuite with MockitoSugar with Matchers {
@Test def testTrioCompound = {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
val trio = new Trio("Child_7006504", "Father_7006506", "Mother_7006508")
val trio = new Trio("Sample_101", "Sample_102", "Sample_103")
trioCompound(record, List(trio))
}
......@@ -193,7 +199,7 @@ class VcfFilterTest extends TestNGSuite with MockitoSugar with Matchers {
@Test def testDeNovoTrio = {
val reader = new VCFFileReader(vepped, false)
val record = reader.iterator().next()
val trio = new Trio("Child_7006504", "Father_7006506", "Mother_7006508")
val trio = new Trio("Sample_101", "Sample_102", "Sample_103")
denovoTrio(record, List(trio))
}
......
public/biopet-tools/src/test/scala/nl/lumc/sasc/biopet/tools/VcfToTsvTest.scala
+ 10
− 3
View file @ 52a67c4b
......@@ -15,6 +15,7 @@
*/
package nl.lumc.sasc.biopet.tools
import java.io.File
import java.nio.file.Paths
import org.scalatest.Matchers
......@@ -41,19 +42,25 @@ class VcfToTsvTest extends TestNGSuite with MockitoSugar with Matchers {
val unvepped = resourcePath("/unvepped.vcf")
@Test def testAllFields() = {
val tmp_path = "/tmp/VcfToTsv_" + rand.nextString(10) + ".tsv"
val tmp = File.createTempFile("VcfToTsv", ".tsv")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", unvepped, "-o", tmp_path, "--all_info")
main(arguments)
}
@Test def testSpecificField() = {
val tmp_path = "/tmp/VcfToTsv_" + rand.nextString(10) + ".tsv"
val tmp = File.createTempFile("VcfToTsv", ".tsv")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vepped, "-o", tmp_path, "-i", "CSQ")
main(arguments)
}
@Test def testNewSeparators() = {
val tmp_path = "/tmp/VcfToTsv_" + rand.nextString(10) + ".tsv"
val tmp = File.createTempFile("VcfToTsv", ".tsv")
tmp.deleteOnExit()
val tmp_path = tmp.getAbsolutePath
val arguments = Array("-I", vepped, "-o", tmp_path, "--all_info", "--separator", ",", "--list_separator", "|")
main(arguments)
}
......
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