From a91aa4a6490a07f390a601bc62b4a51ea15729f8 Mon Sep 17 00:00:00 2001
From: Sander Bollen <a.h.b.bollen@lumc.nl>
Date: Fri, 10 Apr 2015 11:49:48 +0200
Subject: [PATCH] adding checkAllelesVcfInBamTest stub and adding bgzipped and
 tabixed VCF files for tools that need indexed files

---
 .../biopet/tools/CheckAllelesVcfInBam.scala   |   2 +-
 .../src/test/resources/VEP_oneline.vcf.gz     | Bin 0 -> 6141 bytes
 .../src/test/resources/VEP_oneline.vcf.gz.tbi | Bin 0 -> 101 bytes
 .../src/test/resources/chrQ.vcf               |  85 ++++++++++++++++++
 .../src/test/resources/unvepped.vcf.gz        | Bin 0 -> 5094 bytes
 .../src/test/resources/unvepped.vcf.gz.tbi    | Bin 0 -> 95 bytes
 .../tools/CheckAllelesVcfInBamTest.scala      |  44 +++++++++
 .../sasc/biopet/tools/VcfWithVcfTest.scala    |  10 +--
 8 files changed, 135 insertions(+), 6 deletions(-)
 create mode 100644 public/biopet-framework/src/test/resources/VEP_oneline.vcf.gz
 create mode 100644 public/biopet-framework/src/test/resources/VEP_oneline.vcf.gz.tbi
 create mode 100644 public/biopet-framework/src/test/resources/chrQ.vcf
 create mode 100644 public/biopet-framework/src/test/resources/unvepped.vcf.gz
 create mode 100644 public/biopet-framework/src/test/resources/unvepped.vcf.gz.tbi
 create mode 100644 public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBamTest.scala

diff --git a/public/biopet-framework/src/main/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBam.scala b/public/biopet-framework/src/main/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBam.scala
index 126c40e15..d16b9812c 100644
--- a/public/biopet-framework/src/main/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBam.scala
+++ b/public/biopet-framework/src/main/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBam.scala
@@ -81,7 +81,7 @@ object CheckAllelesVcfInBam extends ToolCommand {
     val commandArgs: Args = argsParser.parse(args, Args()) getOrElse sys.exit(1)
 
     if (commandArgs.bamFiles.size != commandArgs.samples.size)
-      logger.warn("Number of samples is different from number of bam files: those left over will be removed")
+      logger.warn("Number of samples is different from number of bam files: additional samples or bam files will not be used")
     val samReaderFactory = SamReaderFactory.makeDefault
     val bamReaders: Map[String, SamReader] = Map(commandArgs.samples zip commandArgs.bamFiles.map(x => samReaderFactory.open(x)): _*)
     val bamHeaders = bamReaders.map(x => (x._1, x._2.getFileHeader))
diff --git a/public/biopet-framework/src/test/resources/VEP_oneline.vcf.gz b/public/biopet-framework/src/test/resources/VEP_oneline.vcf.gz
new file mode 100644
index 0000000000000000000000000000000000000000..3dccfacc66deb4dfc034ce927addceeb9a716535
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diff --git a/public/biopet-framework/src/test/resources/VEP_oneline.vcf.gz.tbi b/public/biopet-framework/src/test/resources/VEP_oneline.vcf.gz.tbi
new file mode 100644
index 0000000000000000000000000000000000000000..1e25b0dccdd45daf908188094e8a998f875094df
GIT binary patch
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diff --git a/public/biopet-framework/src/test/resources/chrQ.vcf b/public/biopet-framework/src/test/resources/chrQ.vcf
new file mode 100644
index 000000000..4b97e4867
--- /dev/null
+++ b/public/biopet-framework/src/test/resources/chrQ.vcf
@@ -0,0 +1,85 @@
+##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">
+##INFO=<ID=FG,Number=.,Type=String,Description="functionGVS">
+##INFO=<ID=FD,Number=.,Type=String,Description="functionDBSNP">
+##INFO=<ID=GM,Number=.,Type=String,Description="accession">
+##INFO=<ID=GL,Number=.,Type=String,Description="geneList">
+##INFO=<ID=AAC,Number=.,Type=String,Description="aminoAcids">
+##INFO=<ID=PP,Number=.,Type=String,Description="proteinPosition">
+##INFO=<ID=CDP,Number=.,Type=String,Description="cDNAPosition">
+##INFO=<ID=PH,Number=.,Type=String,Description="polyPhen">
+##INFO=<ID=CP,Number=1,Type=String,Description="scorePhastCons">
+##INFO=<ID=CG,Number=1,Type=String,Description="consScoreGERP">
+##INFO=<ID=AA,Number=1,Type=String,Description="chimpAllele">
+##INFO=<ID=CN,Number=.,Type=String,Description="CNV">
+##INFO=<ID=HA,Number=1,Type=String,Description="AfricanHapMapFreq">
+##INFO=<ID=HE,Number=1,Type=String,Description="EuropeanHapMapFreq">
+##INFO=<ID=HC,Number=1,Type=String,Description="AsianHapMapFreq">
+##INFO=<ID=DG,Number=0,Type=Flag,Description="hasGenotypes">
+##INFO=<ID=DV,Number=.,Type=String,Description="dbSNPValidation">
+##INFO=<ID=RM,Number=.,Type=String,Description="repeatMasker">
+##INFO=<ID=RT,Number=.,Type=String,Description="tandemRepeat">
+##INFO=<ID=CA,Number=0,Type=Flag,Description="clinicalAssociation">
+##INFO=<ID=DSP,Number=1,Type=Integer,Description="distanceToSplice">
+##INFO=<ID=GS,Number=.,Type=String,Description="granthamScore">
+##INFO=<ID=MR,Number=.,Type=String,Description="microRNAs">
+##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">
+##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities">
+##INFO=<ID=DB,Number=0,Type=Flag,Description="dbSNP Membership">
+##INFO=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth; some reads may have been filtered">
+##INFO=<ID=DS,Number=0,Type=Flag,Description="Were any of the samples downsampled?">
+##INFO=<ID=Dels,Number=1,Type=Float,Description="Fraction of Reads Containing Spanning Deletions">
+##INFO=<ID=END,Number=1,Type=Integer,Description="Stop position of the interval">
+##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
+##INFO=<ID=HaplotypeScore,Number=1,Type=Float,Description="Consistency of the site with at most two segregating haplotypes">
+##INFO=<ID=InbreedingCoeff,Number=1,Type=Float,Description="Inbreeding coefficient as estimated from the genotype likelihoods per-sample when compared against the Hardy-Weinberg expectation">
+##INFO=<ID=MLEAC,Number=A,Type=Integer,Description="Maximum likelihood expectation (MLE) for the allele counts (not necessarily the same as the AC), for each ALT allele, in the same order as listed">
+##INFO=<ID=MLEAF,Number=A,Type=Float,Description="Maximum likelihood expectation (MLE) for the allele frequency (not necessarily the same as the AF), for each ALT allele, in the same order as listed">
+##INFO=<ID=MQ,Number=1,Type=Float,Description="RMS Mapping Quality">
+##INFO=<ID=MQ0,Number=1,Type=Integer,Description="Total Mapping Quality Zero Reads">
+##INFO=<ID=MQRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref read mapping qualities">
+##INFO=<ID=NEGATIVE_TRAIN_SITE,Number=0,Type=Flag,Description="This variant was used to build the negative training set of bad variants">
+##INFO=<ID=POSITIVE_TRAIN_SITE,Number=0,Type=Flag,Description="This variant was used to build the positive training set of good variants">
+##INFO=<ID=QD,Number=1,Type=Float,Description="Variant Confidence/Quality by Depth">
+##INFO=<ID=RPA,Number=.,Type=Integer,Description="Number of times tandem repeat unit is repeated, for each allele (including reference)">
+##INFO=<ID=RU,Number=1,Type=String,Description="Tandem repeat unit (bases)">
+##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias">
+##INFO=<ID=STR,Number=0,Type=Flag,Description="Variant is a short tandem repeat">
+##INFO=<ID=VQSLOD,Number=1,Type=Float,Description="Log odds ratio of being a true variant versus being false under the trained gaussian mixture model">
+##INFO=<ID=culprit,Number=1,Type=String,Description="The annotation which was the worst performing in the Gaussian mixture model, likely the reason why the variant was filtered out">
+##INFO=<ID=ClippingRankSum,Number=1,Type=Float,Description="Z-score From Wilcoxon rank sum test of Alt vs. Ref number of hard clipped bases">
+##INFO=<ID=GATKCaller,Number=.,Type=String,Description="GATK variant caller used to call the variant">
+##INFO=<ID=PartOfCompound,Number=.,Type=String,Description="Whether the record was originally part of a record containing compound variants">
+##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
+##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
+##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
+##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
+##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
+##FILTER=<ID=LowQual,Description="Low quality">
+##FILTER=<ID=VQSRTrancheINDEL99.00to99.90,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -1.4714 <= x < -0.3324">
+##FILTER=<ID=VQSRTrancheINDEL99.90to100.00+,Description="Truth sensitivity tranche level for INDEL model at VQS Lod < -6.093">
+##FILTER=<ID=VQSRTrancheINDEL99.90to100.00,Description="Truth sensitivity tranche level for INDEL model at VQS Lod: -6.093 <= x < -1.4714">
+##FILTER=<ID=VQSRTrancheSNP99.00to99.90,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -4.8126 <= x < 0.2264">
+##FILTER=<ID=VQSRTrancheSNP99.90to100.00+,Description="Truth sensitivity tranche level for SNP model at VQS Lod < -39474.9285">
+##FILTER=<ID=VQSRTrancheSNP99.90to100.00,Description="Truth sensitivity tranche level for SNP model at VQS Lod: -39474.9285 <= x < -4.8126">
+##FILTER=<ID=TooHigh1000GAF,Description="Allele frequency in 1000G is more than 5%">
+##FILTER=<ID=TooHighGoNLAF,Description="Allele frequency in 1000G is more than 5%">
+##FILTER=<ID=IndexNotCalled,Description="Position in index sample is not called">
+##FILTER=<ID=IndexIsVariant,Description="Index call is a variant">
+##FILTER=<ID=InArtificialChrom,Description="Variant found in an artificial chromosome">
+##FILTER=<ID=IsIntergenic,Description="Variant found in intergenic region">
+##contig=<ID=chrQ,length=16571>
+##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
+chrQ	1042	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
diff --git a/public/biopet-framework/src/test/resources/unvepped.vcf.gz b/public/biopet-framework/src/test/resources/unvepped.vcf.gz
new file mode 100644
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diff --git a/public/biopet-framework/src/test/resources/unvepped.vcf.gz.tbi b/public/biopet-framework/src/test/resources/unvepped.vcf.gz.tbi
new file mode 100644
index 0000000000000000000000000000000000000000..1895ffffc8cafd9cda37d3b9afb81a9a1bfe4034
GIT binary patch
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literal 0
HcmV?d00001

diff --git a/public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBamTest.scala b/public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBamTest.scala
new file mode 100644
index 000000000..461a607c1
--- /dev/null
+++ b/public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/CheckAllelesVcfInBamTest.scala
@@ -0,0 +1,44 @@
+package nl.lumc.sasc.biopet.tools
+
+import java.nio.file.Paths
+
+import org.scalatest.Matchers
+import org.scalatest.mock.MockitoSugar
+import org.scalatest.testng.TestNGSuite
+import org.testng.annotations.Test
+
+import scala.util.Random
+
+/**
+ * Created by ahbbollen on 10-4-15.
+ */
+class CheckAllelesVcfInBamTest extends TestNGSuite with MockitoSugar with Matchers {
+  import CheckAllelesVcfInBam._
+
+  private def resourcePath(p: String): String = {
+    Paths.get(getClass.getResource(p).toURI).toString
+  }
+
+  val vcf = resourcePath("/chrQ.vcf")
+  val bam = resourcePath("/single01.bam")
+  val rand = new Random()
+
+  @Test def testOutputTypeVcf() = {
+    val tmp_path = "/tmp/CheckAllesVcfInBam_" + rand.nextString(10) + ".vcf"
+    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 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 arguments = Array("-I", vcf, "-b", bam, "-s", "sample01", "-o", tmp_path)
+    main(arguments)
+  }
+
+}
diff --git a/public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/VcfWithVcfTest.scala b/public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/VcfWithVcfTest.scala
index b2fbcfbb5..a71edf513 100644
--- a/public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/VcfWithVcfTest.scala
+++ b/public/biopet-framework/src/test/scala/nl/lumc/sasc/biopet/tools/VcfWithVcfTest.scala
@@ -19,24 +19,24 @@ class VcfWithVcfTest extends TestNGSuite with MockitoSugar with Matchers {
     Paths.get(getClass.getResource(p).toURI).toString
   }
 
-  val vepped_path = resourcePath("/VEP_oneline.vcf")
-  val unvepped_path = resourcePath("/unvepped.vcf")
+  val vepped_path = resourcePath("/VEP_oneline.vcf.gz")
+  val unvepped_path = resourcePath("/unvepped.vcf.gz")
   val rand = new Random()
 
   @Test def testOutputTypeVcf() = {
-    val tmp_path = "/tmp_VcfWithVcf_" + rand.nextString(10) + ".vcf"
+    val tmp_path = "/tmp/VcfWithVcf_" + rand.nextString(10) + ".vcf"
     val arguments = Array("-I", unvepped_path, "-S", vepped_path, "-O", tmp_path, "-f", "CSQ")
     main(arguments)
   }
 
   @Test def testOutputTypeVcfGz() = {
-    val tmp_path = "/tmp_VcfWithVcf_" + rand.nextString(10) + ".vcf.gz"
+    val tmp_path = "/tmp/VcfWithVcf_" + rand.nextString(10) + ".vcf.gz"
     val arguments = Array("-I", unvepped_path, "-S", vepped_path, "-O", tmp_path, "-f", "CSQ")
     main(arguments)
   }
 
   @Test def testOutputTypeBcf() = {
-    val tmp_path = "/tmp_VcfWithVcf_" + rand.nextString(10) + ".bcf"
+    val tmp_path = "/tmp/VcfWithVcf_" + rand.nextString(10) + ".bcf"
     val arguments = Array("-I", unvepped_path, "-S", vepped_path, "-O", tmp_path, "-f", "CSQ")
     main(arguments)
   }
-- 
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