view test-data/input_vcf.vcf @ 1:0f17ca98338e draft default tip

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##fileformat=VCFv4.2
##FILTER=<ID=alt_allele_in_normal,Description="Evidence seen in the normal sample">
##FILTER=<ID=clustered_events,Description="Clustered events observed in the tumor">
##FILTER=<ID=clustered_read_position,Description="Evidence for somatic variant clusters near the ends of reads">
##FILTER=<ID=germline_risk,Description="Evidence indicates this site is germline, not somatic">
##FILTER=<ID=homologous_mapping_event,Description="More than three events were observed in the tumor">
##FILTER=<ID=multi_event_alt_allele_in_normal,Description="Multiple events observed in tumor and normal">
##FILTER=<ID=panel_of_normals,Description="Seen in at least 2 samples in the panel of normals">
##FILTER=<ID=str_contraction,Description="Site filtered due to contraction of short tandem repeat region">
##FILTER=<ID=strand_artifact,Description="Evidence for alt allele comes from one read direction only">
##FILTER=<ID=t_lod_fstar,Description="Tumor does not meet likelihood threshold">
##FILTER=<ID=triallelic_site,Description="Site filtered because more than two alt alleles pass tumor LOD">
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=AF,Number=1,Type=Float,Description="Allele fraction of the event in the tumor">
##FORMAT=<ID=ALT_F1R2,Number=1,Type=Integer,Description="Count of reads in F1R2 pair orientation supporting the alternate allele">
##FORMAT=<ID=ALT_F2R1,Number=1,Type=Integer,Description="Count of reads in F2R1 pair orientation supporting the alternate allele">
##FORMAT=<ID=DP,Number=1,Type=Integer,Description="Approximate read depth (reads with MQ=255 or with bad mates are filtered)">
##FORMAT=<ID=FOXOG,Number=1,Type=Float,Description="Fraction of alt reads indicating OxoG error">
##FORMAT=<ID=GQ,Number=1,Type=Integer,Description="Genotype Quality">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=PGT,Number=1,Type=String,Description="Physical phasing haplotype information, describing how the alternate alleles are phased in relation to one another">
##FORMAT=<ID=PID,Number=1,Type=String,Description="Physical phasing ID information, where each unique ID within a given sample (but not across samples) connects records within a phasing group">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification">
##FORMAT=<ID=QSS,Number=A,Type=Integer,Description="Sum of base quality scores for each allele">
##FORMAT=<ID=REF_F1R2,Number=1,Type=Integer,Description="Count of reads in F1R2 pair orientation supporting the reference allele">
##FORMAT=<ID=REF_F2R1,Number=1,Type=Integer,Description="Count of reads in F2R1 pair orientation supporting the reference allele">
##GATKCommandLine.MuTect2=<ID=MuTect2,Version=3.8-0-ge9d806836,Date="Wed Apr 11 08:55:44 UTC 2018",Epoch=1523436944508,CommandLineOptions="analysis_type=MuTect2 input_file=[tumor.bam, normal.bam] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=[position.bed] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=genome.fa 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 refactor_NDN_cigar_string=false fix_misencoded_quality_scores=false allow_potentially_misencoded_quality_scores=false useOriginalQualities=false defaultBaseQualities=-1 performanceLog=null BQSR=null quantize_quals=0 static_quantized_quals=null round_down_quantized=false disable_indel_quals=false emit_original_quals=false preserve_qscores_less_than=6 globalQScorePrior=-1.0 secondsBetweenProgressUpdates=10 validation_strictness=SILENT remove_program_records=false keep_program_records=false sample_rename_mapping_file=null unsafe=null use_jdk_deflater=false use_jdk_inflater=false disable_auto_index_creation_and_locking_when_reading_rods=false no_cmdline_in_header=false sites_only=false never_trim_vcf_format_field=false bcf=false bam_compression=null simplifyBAM=false disable_bam_indexing=false generate_md5=false num_threads=1 num_cpu_threads_per_data_thread=7 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 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false cosmic=[] normal_panel=[] dbsnp=(RodBinding name= source=UNBOUND) m2debug=false artifact_detection_mode=false initial_tumor_lod=4.0 initial_normal_lod=0.5 tumor_lod=6.3 normal_lod=2.2 dbsnp_normal_lod=5.5 max_alt_alleles_in_normal_count=1 max_alt_alleles_in_normal_qscore_sum=20 max_alt_allele_in_normal_fraction=0.03 power_constant_qscore=30 strand_artifact_lod=2.0 strand_artifact_power_threshold=0.9 enable_strand_artifact_filter=false enable_clustered_read_position_filter=false pir_median_threshold=10.0 pir_mad_threshold=3.0 debug=false useFilteredReadsForAnnotations=false emitRefConfidence=NONE bamOutput=null bamWriterType=CALLED_HAPLOTYPES emitDroppedReads=false disableOptimizations=false annotateNDA=false useNewAFCalculator=false heterozygosity=0.001 indel_heterozygosity=1.25E-4 heterozygosity_stdev=0.01 standard_min_confidence_threshold_for_calling=10.0 standard_min_confidence_threshold_for_emitting=30.0 max_alternate_alleles=6 max_genotype_count=1024 max_num_PL_values=100 input_prior=[] sample_ploidy=2 genotyping_mode=DISCOVERY alleles=(RodBinding name= source=UNBOUND) contamination_fraction_to_filter=0.0 contamination_fraction_per_sample_file=null p_nonref_model=null exactcallslog=null output_mode=EMIT_VARIANTS_ONLY allSitePLs=false kmerSize=[10, 25] dontIncreaseKmerSizesForCycles=false allowNonUniqueKmersInRef=false numPruningSamples=1 recoverDanglingHeads=false doNotRecoverDanglingBranches=false minDanglingBranchLength=4 consensus=false maxNumHaplotypesInPopulation=128 errorCorrectKmers=false minPruning=2 debugGraphTransformations=false allowCyclesInKmerGraphToGeneratePaths=false graphOutput=null kmerLengthForReadErrorCorrection=25 minObservationsForKmerToBeSolid=20 gcpHMM=10 pair_hmm_implementation=FASTEST_AVAILABLE phredScaledGlobalReadMismappingRate=45 noFpga=false nativePairHmmThreads=1 useDoublePrecision=false debug_read_name=null MQ_filtering_level=20 comp=[] annotation=[DepthPerAlleleBySample, BaseQualitySumPerAlleleBySample, TandemRepeatAnnotator, OxoGReadCounts] excludeAnnotation=[SpanningDeletions] out=/export/galaxy/database/files/001/dataset_1160.dat dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 keepRG=null min_base_quality_score=10 errorCorrectReads=false captureAssemblyFailureBAM=false dontUseSoftClippedBases=false justDetermineActiveRegions=false doNotRunPhysicalPhasing=false maxReadsInRegionPerSample=1000 minReadsPerAlignmentStart=5 activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null maxReadsInMemoryPerSample=30000 maxTotalReadsInMemory=10000000 maxProbPropagationDistance=50 activeProbabilityThreshold=0.002 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false">
##INFO=<ID=ECNT,Number=1,Type=String,Description="Number of events in this haplotype">
##INFO=<ID=HCNT,Number=1,Type=String,Description="Number of haplotypes that support this variant">
##INFO=<ID=MAX_ED,Number=1,Type=Integer,Description="Maximum distance between events in this active region">
##INFO=<ID=MIN_ED,Number=1,Type=Integer,Description="Minimum distance between events in this active region">
##INFO=<ID=NLOD,Number=1,Type=String,Description="Normal LOD score">
##INFO=<ID=PON,Number=1,Type=String,Description="Count from Panel of Normals">
##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=STR,Number=0,Type=Flag,Description="Variant is a short tandem repeat">
##INFO=<ID=TLOD,Number=1,Type=String,Description="Tumor LOD score">
##SAMPLE=<ID=NORMAL,SampleName=normal,File=/export/job_work_dir/000/551/working/normal.bam>
##SAMPLE=<ID=TUMOR,SampleName=tumor,File=/export/job_work_dir/000/551/working/tumor.bam>
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#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	TUMOR	NORMAL
chr22	11603571	.	A	T	.	alt_allele_in_normal;clustered_events	ECNT=3;HCNT=25;MAX_ED=139;MIN_ED=95;NLOD=82.02;TLOD=6.65	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/1:404,8:0.019:3:5:0.625:11853,239:196:208	0/0:305,5:0.016:2:3:0.600:8997,153:145:160
chr22	11603666	.	C	A	.	alt_allele_in_normal;clustered_events	ECNT=3;HCNT=21;MAX_ED=139;MIN_ED=95;NLOD=189.96;TLOD=17.06	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/1:1201,19:0.018:8:11:0.579:39536,548:578:623	0/0:1053,33:0.039:13:20:0.606:34747,962:516:537
chr22	11603710	.	G	C	.	alt_allele_in_normal;clustered_events	ECNT=3;HCNT=18;MAX_ED=139;MIN_ED=95;NLOD=29.16;TLOD=100.26	GT:AD:AF:ALT_F1R2:ALT_F2R1:FOXOG:QSS:REF_F1R2:REF_F2R1	0/1:1454,64:0.045:28:36:0.438:47536,2109:717:737	0/0:1149,124:0.101:57:67:0.460:37571,4096:561:588