diff --git a/test/data/16699289_chrM.g.vcf b/test/data/16699289_chrM.g.vcf index 2f7b72f81720b35f492cdb257c7592e3d699e189..b5927f6e36a6bf558968bde41c8c8ea64134ea5a 100644 --- a/test/data/16699289_chrM.g.vcf +++ b/test/data/16699289_chrM.g.vcf @@ -10,72 +10,6 @@ ##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=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias."> -##GATKCommandLine.HaplotypeCaller=<ID=HaplotypeCaller,Version=3.7-0-gcfedb67,Date="Fri Mar 13 15:58:36 UTC 2020",Epoch=1584115116921,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[16699289/bams/16699289.markdup.bam] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=[chrM:1-16571] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=500 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=16699289/bams/16699289.baserecal.grp 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 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=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=LINEAR variant_index_parameter=128000 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN dbsnp=(RodBinding name=dbsnp source=/exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/dbsnp_137.hg19_nohap.noclin.vcf.gz) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[StrandBiasBySample] excludeAnnotation=[ChromosomeCounts, FisherStrand, StrandOddsRatio, QualByDepth] group=[StandardAnnotation, StandardHCAnnotation] debug=false useFilteredReadsForAnnotations=false emitRefConfidence=GVCF 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=-0.0 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=true gcpHMM=10 pair_hmm_implementation=VECTOR_LOGLESS_CACHING pair_hmm_sub_implementation=ENABLE_ALL always_load_vector_logless_PairHMM_lib=false phredScaledGlobalReadMismappingRate=45 noFpga=false sample_name=null 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 GVCFGQBands=[1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 70, 80, 90, 99] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 includeUmappedReads=false useAllelesTrigger=false doNotRunPhysicalPhasing=false keepRG=null justDetermineActiveRegions=false dontGenotype=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false errorCorrectReads=false pcr_indel_model=CONSERVATIVE maxReadsInRegionPerSample=10000 minReadsPerAlignmentStart=10 mergeVariantsViaLD=false activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null maxReadsInMemoryPerSample=30000 maxTotalReadsInMemory=10000000 maxProbPropagationDistance=50 activeProbabilityThreshold=0.002 min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> -##GVCFBlock0-1=minGQ=0(inclusive),maxGQ=1(exclusive) -##GVCFBlock1-2=minGQ=1(inclusive),maxGQ=2(exclusive) -##GVCFBlock10-11=minGQ=10(inclusive),maxGQ=11(exclusive) -##GVCFBlock11-12=minGQ=11(inclusive),maxGQ=12(exclusive) -##GVCFBlock12-13=minGQ=12(inclusive),maxGQ=13(exclusive) -##GVCFBlock13-14=minGQ=13(inclusive),maxGQ=14(exclusive) -##GVCFBlock14-15=minGQ=14(inclusive),maxGQ=15(exclusive) -##GVCFBlock15-16=minGQ=15(inclusive),maxGQ=16(exclusive) -##GVCFBlock16-17=minGQ=16(inclusive),maxGQ=17(exclusive) -##GVCFBlock17-18=minGQ=17(inclusive),maxGQ=18(exclusive) -##GVCFBlock18-19=minGQ=18(inclusive),maxGQ=19(exclusive) -##GVCFBlock19-20=minGQ=19(inclusive),maxGQ=20(exclusive) -##GVCFBlock2-3=minGQ=2(inclusive),maxGQ=3(exclusive) -##GVCFBlock20-21=minGQ=20(inclusive),maxGQ=21(exclusive) -##GVCFBlock21-22=minGQ=21(inclusive),maxGQ=22(exclusive) -##GVCFBlock22-23=minGQ=22(inclusive),maxGQ=23(exclusive) -##GVCFBlock23-24=minGQ=23(inclusive),maxGQ=24(exclusive) -##GVCFBlock24-25=minGQ=24(inclusive),maxGQ=25(exclusive) -##GVCFBlock25-26=minGQ=25(inclusive),maxGQ=26(exclusive) -##GVCFBlock26-27=minGQ=26(inclusive),maxGQ=27(exclusive) -##GVCFBlock27-28=minGQ=27(inclusive),maxGQ=28(exclusive) -##GVCFBlock28-29=minGQ=28(inclusive),maxGQ=29(exclusive) -##GVCFBlock29-30=minGQ=29(inclusive),maxGQ=30(exclusive) -##GVCFBlock3-4=minGQ=3(inclusive),maxGQ=4(exclusive) -##GVCFBlock30-31=minGQ=30(inclusive),maxGQ=31(exclusive) -##GVCFBlock31-32=minGQ=31(inclusive),maxGQ=32(exclusive) -##GVCFBlock32-33=minGQ=32(inclusive),maxGQ=33(exclusive) -##GVCFBlock33-34=minGQ=33(inclusive),maxGQ=34(exclusive) -##GVCFBlock34-35=minGQ=34(inclusive),maxGQ=35(exclusive) -##GVCFBlock35-36=minGQ=35(inclusive),maxGQ=36(exclusive) -##GVCFBlock36-37=minGQ=36(inclusive),maxGQ=37(exclusive) -##GVCFBlock37-38=minGQ=37(inclusive),maxGQ=38(exclusive) -##GVCFBlock38-39=minGQ=38(inclusive),maxGQ=39(exclusive) -##GVCFBlock39-40=minGQ=39(inclusive),maxGQ=40(exclusive) -##GVCFBlock4-5=minGQ=4(inclusive),maxGQ=5(exclusive) -##GVCFBlock40-41=minGQ=40(inclusive),maxGQ=41(exclusive) -##GVCFBlock41-42=minGQ=41(inclusive),maxGQ=42(exclusive) -##GVCFBlock42-43=minGQ=42(inclusive),maxGQ=43(exclusive) -##GVCFBlock43-44=minGQ=43(inclusive),maxGQ=44(exclusive) -##GVCFBlock44-45=minGQ=44(inclusive),maxGQ=45(exclusive) -##GVCFBlock45-46=minGQ=45(inclusive),maxGQ=46(exclusive) -##GVCFBlock46-47=minGQ=46(inclusive),maxGQ=47(exclusive) -##GVCFBlock47-48=minGQ=47(inclusive),maxGQ=48(exclusive) -##GVCFBlock48-49=minGQ=48(inclusive),maxGQ=49(exclusive) -##GVCFBlock49-50=minGQ=49(inclusive),maxGQ=50(exclusive) -##GVCFBlock5-6=minGQ=5(inclusive),maxGQ=6(exclusive) -##GVCFBlock50-51=minGQ=50(inclusive),maxGQ=51(exclusive) -##GVCFBlock51-52=minGQ=51(inclusive),maxGQ=52(exclusive) -##GVCFBlock52-53=minGQ=52(inclusive),maxGQ=53(exclusive) -##GVCFBlock53-54=minGQ=53(inclusive),maxGQ=54(exclusive) -##GVCFBlock54-55=minGQ=54(inclusive),maxGQ=55(exclusive) -##GVCFBlock55-56=minGQ=55(inclusive),maxGQ=56(exclusive) -##GVCFBlock56-57=minGQ=56(inclusive),maxGQ=57(exclusive) -##GVCFBlock57-58=minGQ=57(inclusive),maxGQ=58(exclusive) -##GVCFBlock58-59=minGQ=58(inclusive),maxGQ=59(exclusive) -##GVCFBlock59-60=minGQ=59(inclusive),maxGQ=60(exclusive) -##GVCFBlock6-7=minGQ=6(inclusive),maxGQ=7(exclusive) -##GVCFBlock60-70=minGQ=60(inclusive),maxGQ=70(exclusive) -##GVCFBlock7-8=minGQ=7(inclusive),maxGQ=8(exclusive) -##GVCFBlock70-80=minGQ=70(inclusive),maxGQ=80(exclusive) -##GVCFBlock8-9=minGQ=8(inclusive),maxGQ=9(exclusive) -##GVCFBlock80-90=minGQ=80(inclusive),maxGQ=90(exclusive) -##GVCFBlock9-10=minGQ=9(inclusive),maxGQ=10(exclusive) -##GVCFBlock90-99=minGQ=90(inclusive),maxGQ=99(exclusive) -##GVCFBlock99-100=minGQ=99(inclusive),maxGQ=100(exclusive) ##INFO=<ID=BaseQRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt Vs. Ref base qualities"> ##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=DB,Number=0,Type=Flag,Description="dbSNP Membership"> @@ -92,90 +26,6 @@ ##INFO=<ID=RAW_MQ,Number=1,Type=Float,Description="Raw data for RMS Mapping Quality"> ##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias"> ##contig=<ID=chrM,length=16571,assembly=hg19> -##contig=<ID=chr1,length=249250621,assembly=hg19> -##contig=<ID=chr2,length=243199373,assembly=hg19> -##contig=<ID=chr3,length=198022430,assembly=hg19> -##contig=<ID=chr4,length=191154276,assembly=hg19> -##contig=<ID=chr5,length=180915260,assembly=hg19> -##contig=<ID=chr6,length=171115067,assembly=hg19> -##contig=<ID=chr7,length=159138663,assembly=hg19> -##contig=<ID=chr8,length=146364022,assembly=hg19> -##contig=<ID=chr9,length=141213431,assembly=hg19> -##contig=<ID=chr10,length=135534747,assembly=hg19> -##contig=<ID=chr11,length=135006516,assembly=hg19> -##contig=<ID=chr12,length=133851895,assembly=hg19> -##contig=<ID=chr13,length=115169878,assembly=hg19> -##contig=<ID=chr14,length=107349540,assembly=hg19> -##contig=<ID=chr15,length=102531392,assembly=hg19> -##contig=<ID=chr16,length=90354753,assembly=hg19> -##contig=<ID=chr17,length=81195210,assembly=hg19> -##contig=<ID=chr18,length=78077248,assembly=hg19> -##contig=<ID=chr19,length=59128983,assembly=hg19> -##contig=<ID=chr20,length=63025520,assembly=hg19> -##contig=<ID=chr21,length=48129895,assembly=hg19> -##contig=<ID=chr22,length=51304566,assembly=hg19> -##contig=<ID=chrX,length=155270560,assembly=hg19> -##contig=<ID=chrY,length=59373566,assembly=hg19> -##contig=<ID=chr1_gl000191_random,length=106433,assembly=hg19> -##contig=<ID=chr1_gl000192_random,length=547496,assembly=hg19> -##contig=<ID=chr4_gl000193_random,length=189789,assembly=hg19> -##contig=<ID=chr4_gl000194_random,length=191469,assembly=hg19> -##contig=<ID=chr7_gl000195_random,length=182896,assembly=hg19> -##contig=<ID=chr8_gl000196_random,length=38914,assembly=hg19> -##contig=<ID=chr8_gl000197_random,length=37175,assembly=hg19> -##contig=<ID=chr9_gl000198_random,length=90085,assembly=hg19> -##contig=<ID=chr9_gl000199_random,length=169874,assembly=hg19> -##contig=<ID=chr9_gl000200_random,length=187035,assembly=hg19> -##contig=<ID=chr9_gl000201_random,length=36148,assembly=hg19> -##contig=<ID=chr11_gl000202_random,length=40103,assembly=hg19> -##contig=<ID=chr17_gl000203_random,length=37498,assembly=hg19> -##contig=<ID=chr17_gl000204_random,length=81310,assembly=hg19> -##contig=<ID=chr17_gl000205_random,length=174588,assembly=hg19> -##contig=<ID=chr17_gl000206_random,length=41001,assembly=hg19> -##contig=<ID=chr18_gl000207_random,length=4262,assembly=hg19> -##contig=<ID=chr19_gl000208_random,length=92689,assembly=hg19> -##contig=<ID=chr19_gl000209_random,length=159169,assembly=hg19> -##contig=<ID=chr21_gl000210_random,length=27682,assembly=hg19> -##contig=<ID=chrUn_gl000211,length=166566,assembly=hg19> -##contig=<ID=chrUn_gl000212,length=186858,assembly=hg19> -##contig=<ID=chrUn_gl000213,length=164239,assembly=hg19> -##contig=<ID=chrUn_gl000214,length=137718,assembly=hg19> -##contig=<ID=chrUn_gl000215,length=172545,assembly=hg19> -##contig=<ID=chrUn_gl000216,length=172294,assembly=hg19> -##contig=<ID=chrUn_gl000217,length=172149,assembly=hg19> -##contig=<ID=chrUn_gl000218,length=161147,assembly=hg19> -##contig=<ID=chrUn_gl000219,length=179198,assembly=hg19> -##contig=<ID=chrUn_gl000220,length=161802,assembly=hg19> -##contig=<ID=chrUn_gl000221,length=155397,assembly=hg19> -##contig=<ID=chrUn_gl000222,length=186861,assembly=hg19> -##contig=<ID=chrUn_gl000223,length=180455,assembly=hg19> -##contig=<ID=chrUn_gl000224,length=179693,assembly=hg19> -##contig=<ID=chrUn_gl000225,length=211173,assembly=hg19> -##contig=<ID=chrUn_gl000226,length=15008,assembly=hg19> -##contig=<ID=chrUn_gl000227,length=128374,assembly=hg19> -##contig=<ID=chrUn_gl000228,length=129120,assembly=hg19> -##contig=<ID=chrUn_gl000229,length=19913,assembly=hg19> -##contig=<ID=chrUn_gl000230,length=43691,assembly=hg19> -##contig=<ID=chrUn_gl000231,length=27386,assembly=hg19> -##contig=<ID=chrUn_gl000232,length=40652,assembly=hg19> -##contig=<ID=chrUn_gl000233,length=45941,assembly=hg19> -##contig=<ID=chrUn_gl000234,length=40531,assembly=hg19> -##contig=<ID=chrUn_gl000235,length=34474,assembly=hg19> -##contig=<ID=chrUn_gl000236,length=41934,assembly=hg19> -##contig=<ID=chrUn_gl000237,length=45867,assembly=hg19> -##contig=<ID=chrUn_gl000238,length=39939,assembly=hg19> -##contig=<ID=chrUn_gl000239,length=33824,assembly=hg19> -##contig=<ID=chrUn_gl000240,length=41933,assembly=hg19> -##contig=<ID=chrUn_gl000241,length=42152,assembly=hg19> -##contig=<ID=chrUn_gl000242,length=43523,assembly=hg19> -##contig=<ID=chrUn_gl000243,length=43341,assembly=hg19> -##contig=<ID=chrUn_gl000244,length=39929,assembly=hg19> -##contig=<ID=chrUn_gl000245,length=36651,assembly=hg19> -##contig=<ID=chrUn_gl000246,length=38154,assembly=hg19> -##contig=<ID=chrUn_gl000247,length=36422,assembly=hg19> -##contig=<ID=chrUn_gl000248,length=39786,assembly=hg19> -##contig=<ID=chrUn_gl000249,length=38502,assembly=hg19> -##reference=file:///exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/ucsc.hg19_nohap.fasta #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 16699289 chrM 1 . G <NON_REF> . . END=72 GT:DP:GQ:MIN_DP:PL 0/0:96:99:54:0,120,1800 chrM 73 . G A,<NON_REF> 4062.77 . DP=131;ExcessHet=3.0103;MLEAC=2,0;MLEAF=1.00,0.00;RAW_MQ=444604.00 GT:AD:DP:GQ:PL:SB 1/1:0,126,0:126:99:4091,378,0,4091,378,4091:0,0,66,60 diff --git a/test/data/16699289_chrM.vcf b/test/data/16699289_chrM.vcf index e576427a70e126873725b640e40e4046fa3413ad..adb4c0fb547f638db8625390e38cb48b55b7e996 100644 --- a/test/data/16699289_chrM.vcf +++ b/test/data/16699289_chrM.vcf @@ -11,9 +11,6 @@ ##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Normalized, Phred-scaled likelihoods for genotypes as defined in the VCF specification"> ##FORMAT=<ID=RGQ,Number=1,Type=Integer,Description="Unconditional reference genotype confidence, encoded as a phred quality -10*log10 p(genotype call is wrong)"> ##FORMAT=<ID=SB,Number=4,Type=Integer,Description="Per-sample component statistics which comprise the Fisher's Exact Test to detect strand bias."> -##GATKCommandLine.GenotypeGVCFs=<ID=GenotypeGVCFs,Version=3.7-0-gcfedb67,Date="Fri Mar 13 16:18:15 UTC 2020",Epoch=1584116295451,CommandLineOptions="analysis_type=GenotypeGVCFs input_file=[] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=[chrM:1-16571] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/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 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 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=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 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false variant=[(RodBindingCollection [(RodBinding name=variant source=16699289/vcf/16699289.g.vcf.gz)])] out=/exports/capture-lumc/jobs/job-0d9c8698-8f38-4e8f-8e03-932f7a76a79f/multisample/genotype.chrM:1-16571.part.vcf.gz includeNonVariantSites=false uniquifySamples=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 annotation=[] group=[StandardAnnotation] dbsnp=(RodBinding name= source=UNBOUND) filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> -##GATKCommandLine.HaplotypeCaller=<ID=HaplotypeCaller,Version=3.7-0-gcfedb67,Date="Fri Mar 13 15:58:36 UTC 2020",Epoch=1584115116921,CommandLineOptions="analysis_type=HaplotypeCaller input_file=[16699289/bams/16699289.markdup.bam] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=[chrM:1-16571] excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/ucsc.hg19_nohap.fasta nonDeterministicRandomSeed=false disableDithering=false maxRuntime=-1 maxRuntimeUnits=MINUTES downsampling_type=BY_SAMPLE downsample_to_fraction=null downsample_to_coverage=500 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=16699289/bams/16699289.baserecal.grp 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 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=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=LINEAR variant_index_parameter=128000 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false likelihoodCalculationEngine=PairHMM heterogeneousKmerSizeResolution=COMBO_MIN dbsnp=(RodBinding name=dbsnp source=/exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/dbsnp_137.hg19_nohap.noclin.vcf.gz) dontTrimActiveRegions=false maxDiscARExtension=25 maxGGAARExtension=300 paddingAroundIndels=150 paddingAroundSNPs=20 comp=[] annotation=[StrandBiasBySample] excludeAnnotation=[ChromosomeCounts, FisherStrand, StrandOddsRatio, QualByDepth] group=[StandardAnnotation, StandardHCAnnotation] debug=false useFilteredReadsForAnnotations=false emitRefConfidence=GVCF 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=-0.0 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=true gcpHMM=10 pair_hmm_implementation=VECTOR_LOGLESS_CACHING pair_hmm_sub_implementation=ENABLE_ALL always_load_vector_logless_PairHMM_lib=false phredScaledGlobalReadMismappingRate=45 noFpga=false sample_name=null 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 GVCFGQBands=[1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 70, 80, 90, 99] indelSizeToEliminateInRefModel=10 min_base_quality_score=10 includeUmappedReads=false useAllelesTrigger=false doNotRunPhysicalPhasing=false keepRG=null justDetermineActiveRegions=false dontGenotype=false dontUseSoftClippedBases=false captureAssemblyFailureBAM=false errorCorrectReads=false pcr_indel_model=CONSERVATIVE maxReadsInRegionPerSample=10000 minReadsPerAlignmentStart=10 mergeVariantsViaLD=false activityProfileOut=null activeRegionOut=null activeRegionIn=null activeRegionExtension=null forceActive=false activeRegionMaxSize=null bandPassSigma=null maxReadsInMemoryPerSample=30000 maxTotalReadsInMemory=10000000 maxProbPropagationDistance=50 activeProbabilityThreshold=0.002 min_mapping_quality_score=20 filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> -##GATKCommandLine.SelectVariants=<ID=SelectVariants,Version=3.7-0-gcfedb67,Date="Fri Mar 13 16:20:16 UTC 2020",Epoch=1584116416195,CommandLineOptions="analysis_type=SelectVariants input_file=[] showFullBamList=false read_buffer_size=null read_filter=[] disable_read_filter=[] intervals=null excludeIntervals=null interval_set_rule=UNION interval_merging=ALL interval_padding=0 reference_sequence=/exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/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 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 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=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 reference_window_stop=0 phone_home= gatk_key=null tag=NA logging_level=INFO log_to_file=null help=false version=false variant=(RodBinding name=variant source=multisample/genotyped.vcf.gz) discordance=(RodBinding name= source=UNBOUND) concordance=(RodBinding name= source=UNBOUND) out=/exports/capture-lumc/jobs/job-0d9c8698-8f38-4e8f-8e03-932f7a76a79f/16699289/vcf/16699289_single.vcf.gz sample_name=[16699289] sample_expressions=null sample_file=null exclude_sample_name=[] exclude_sample_file=[] exclude_sample_expressions=[] selectexpressions=[] invertselect=false excludeNonVariants=true excludeFiltered=false preserveAlleles=false removeUnusedAlternates=false restrictAllelesTo=ALL keepOriginalAC=false keepOriginalDP=false mendelianViolation=false invertMendelianViolation=false mendelianViolationQualThreshold=0.0 select_random_fraction=0.0 remove_fraction_genotypes=0.0 selectTypeToInclude=[] selectTypeToExclude=[] keepIDs=null excludeIDs=null fullyDecode=false justRead=false maxIndelSize=2147483647 minIndelSize=0 maxFilteredGenotypes=2147483647 minFilteredGenotypes=0 maxFractionFilteredGenotypes=1.0 minFractionFilteredGenotypes=0.0 maxNOCALLnumber=2147483647 maxNOCALLfraction=1.0 setFilteredGtToNocall=false ALLOW_NONOVERLAPPING_COMMAND_LINE_SAMPLES=false forceValidOutput=false filter_reads_with_N_cigar=false filter_mismatching_base_and_quals=false filter_bases_not_stored=false"> ##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"> @@ -36,91 +33,6 @@ ##INFO=<ID=ReadPosRankSum,Number=1,Type=Float,Description="Z-score from Wilcoxon rank sum test of Alt vs. Ref read position bias"> ##INFO=<ID=SOR,Number=1,Type=Float,Description="Symmetric Odds Ratio of 2x2 contingency table to detect strand bias"> ##contig=<ID=chrM,length=16571,assembly=hg19> -##contig=<ID=chr1,length=249250621,assembly=hg19> -##contig=<ID=chr2,length=243199373,assembly=hg19> -##contig=<ID=chr3,length=198022430,assembly=hg19> -##contig=<ID=chr4,length=191154276,assembly=hg19> -##contig=<ID=chr5,length=180915260,assembly=hg19> -##contig=<ID=chr6,length=171115067,assembly=hg19> -##contig=<ID=chr7,length=159138663,assembly=hg19> -##contig=<ID=chr8,length=146364022,assembly=hg19> -##contig=<ID=chr9,length=141213431,assembly=hg19> -##contig=<ID=chr10,length=135534747,assembly=hg19> -##contig=<ID=chr11,length=135006516,assembly=hg19> -##contig=<ID=chr12,length=133851895,assembly=hg19> -##contig=<ID=chr13,length=115169878,assembly=hg19> -##contig=<ID=chr14,length=107349540,assembly=hg19> -##contig=<ID=chr15,length=102531392,assembly=hg19> -##contig=<ID=chr16,length=90354753,assembly=hg19> -##contig=<ID=chr17,length=81195210,assembly=hg19> -##contig=<ID=chr18,length=78077248,assembly=hg19> -##contig=<ID=chr19,length=59128983,assembly=hg19> -##contig=<ID=chr20,length=63025520,assembly=hg19> -##contig=<ID=chr21,length=48129895,assembly=hg19> -##contig=<ID=chr22,length=51304566,assembly=hg19> -##contig=<ID=chrX,length=155270560,assembly=hg19> -##contig=<ID=chrY,length=59373566,assembly=hg19> -##contig=<ID=chr1_gl000191_random,length=106433,assembly=hg19> -##contig=<ID=chr1_gl000192_random,length=547496,assembly=hg19> -##contig=<ID=chr4_gl000193_random,length=189789,assembly=hg19> -##contig=<ID=chr4_gl000194_random,length=191469,assembly=hg19> -##contig=<ID=chr7_gl000195_random,length=182896,assembly=hg19> -##contig=<ID=chr8_gl000196_random,length=38914,assembly=hg19> -##contig=<ID=chr8_gl000197_random,length=37175,assembly=hg19> -##contig=<ID=chr9_gl000198_random,length=90085,assembly=hg19> -##contig=<ID=chr9_gl000199_random,length=169874,assembly=hg19> -##contig=<ID=chr9_gl000200_random,length=187035,assembly=hg19> -##contig=<ID=chr9_gl000201_random,length=36148,assembly=hg19> -##contig=<ID=chr11_gl000202_random,length=40103,assembly=hg19> -##contig=<ID=chr17_gl000203_random,length=37498,assembly=hg19> -##contig=<ID=chr17_gl000204_random,length=81310,assembly=hg19> -##contig=<ID=chr17_gl000205_random,length=174588,assembly=hg19> -##contig=<ID=chr17_gl000206_random,length=41001,assembly=hg19> -##contig=<ID=chr18_gl000207_random,length=4262,assembly=hg19> -##contig=<ID=chr19_gl000208_random,length=92689,assembly=hg19> -##contig=<ID=chr19_gl000209_random,length=159169,assembly=hg19> -##contig=<ID=chr21_gl000210_random,length=27682,assembly=hg19> -##contig=<ID=chrUn_gl000211,length=166566,assembly=hg19> -##contig=<ID=chrUn_gl000212,length=186858,assembly=hg19> -##contig=<ID=chrUn_gl000213,length=164239,assembly=hg19> -##contig=<ID=chrUn_gl000214,length=137718,assembly=hg19> -##contig=<ID=chrUn_gl000215,length=172545,assembly=hg19> -##contig=<ID=chrUn_gl000216,length=172294,assembly=hg19> -##contig=<ID=chrUn_gl000217,length=172149,assembly=hg19> -##contig=<ID=chrUn_gl000218,length=161147,assembly=hg19> -##contig=<ID=chrUn_gl000219,length=179198,assembly=hg19> -##contig=<ID=chrUn_gl000220,length=161802,assembly=hg19> -##contig=<ID=chrUn_gl000221,length=155397,assembly=hg19> -##contig=<ID=chrUn_gl000222,length=186861,assembly=hg19> -##contig=<ID=chrUn_gl000223,length=180455,assembly=hg19> -##contig=<ID=chrUn_gl000224,length=179693,assembly=hg19> -##contig=<ID=chrUn_gl000225,length=211173,assembly=hg19> -##contig=<ID=chrUn_gl000226,length=15008,assembly=hg19> -##contig=<ID=chrUn_gl000227,length=128374,assembly=hg19> -##contig=<ID=chrUn_gl000228,length=129120,assembly=hg19> -##contig=<ID=chrUn_gl000229,length=19913,assembly=hg19> -##contig=<ID=chrUn_gl000230,length=43691,assembly=hg19> -##contig=<ID=chrUn_gl000231,length=27386,assembly=hg19> -##contig=<ID=chrUn_gl000232,length=40652,assembly=hg19> -##contig=<ID=chrUn_gl000233,length=45941,assembly=hg19> -##contig=<ID=chrUn_gl000234,length=40531,assembly=hg19> -##contig=<ID=chrUn_gl000235,length=34474,assembly=hg19> -##contig=<ID=chrUn_gl000236,length=41934,assembly=hg19> -##contig=<ID=chrUn_gl000237,length=45867,assembly=hg19> -##contig=<ID=chrUn_gl000238,length=39939,assembly=hg19> -##contig=<ID=chrUn_gl000239,length=33824,assembly=hg19> -##contig=<ID=chrUn_gl000240,length=41933,assembly=hg19> -##contig=<ID=chrUn_gl000241,length=42152,assembly=hg19> -##contig=<ID=chrUn_gl000242,length=43523,assembly=hg19> -##contig=<ID=chrUn_gl000243,length=43341,assembly=hg19> -##contig=<ID=chrUn_gl000244,length=39929,assembly=hg19> -##contig=<ID=chrUn_gl000245,length=36651,assembly=hg19> -##contig=<ID=chrUn_gl000246,length=38154,assembly=hg19> -##contig=<ID=chrUn_gl000247,length=36422,assembly=hg19> -##contig=<ID=chrUn_gl000248,length=39786,assembly=hg19> -##contig=<ID=chrUn_gl000249,length=38502,assembly=hg19> -##reference=file:///exports/capture-lumc/dependencies/reference_files/gatk_bundle_hg19/ucsc.hg19_nohap.fasta -##source=SelectVariants #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT 16699289 chrM 73 . G A 4062.77 . AC=2;AF=1.00;AN=2;DP=131;ExcessHet=3.0103;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=58.26;QD=32.24;SOR=0.791 GT:AD:DP:GQ:PL 1/1:0,126:126:99:4091,378,0 chrM 150 . T C 5149.77 . AC=2;AF=1.00;AN=2;DP=130;ExcessHet=3.0103;FS=0.000;MLEAC=2;MLEAF=1.00;MQ=60.00;QD=34.24;SOR=0.710 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,117:117:99:1|1:150_T_C:5178,352,0