##fileformat=VCFv4.1 ##FILTER= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##FORMAT= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##INFO= ##UnifiedGenotyper="analysis_type=UnifiedGenotyper input_file=[test_trio/reads.10462.recal.bam] sample_metadata=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=[./test_trio/Target_Intervals/chr22_target_interval.bed] excludeIntervals=null reference_sequence=reference_genome/HGC/Homo_sapiens_GRCh37_53.fasta rodBind=[] rodToIntervalTrackName=null BTI_merge_rule=UNION nonDeterministicRandomSeed=false downsampling_type=null downsample_to_fraction=null downsample_to_coverage=1000 baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 interval_merging=ALL read_group_black_list=null processingTracker=null restartProcessingTracker=false processingTrackerStatusFile=null processingTrackerID=-1 allow_intervals_with_unindexed_bam=false disable_experimental_low_memory_sharding=false logging_level=INFO log_to_file=null help=false genotype_likelihoods_model=SNP p_nonref_model=EXACT heterozygosity=0.001 pcr_error_rate=1.0E-4 genotyping_mode=DISCOVERY output_mode=EMIT_VARIANTS_ONLY standard_min_confidence_threshold_for_calling=50.0 standard_min_confidence_threshold_for_emitting=10.0 computeSLOD=false alleles=(RodBinding name= source=UNBOUND) assume_single_sample_reads=null abort_at_too_much_coverage=-1 min_base_quality_score=17 min_mapping_quality_score=20 max_deletion_fraction=0.05 min_indel_count_for_genotyping=5 indel_heterozygosity=1.25E-4 indelGapContinuationPenalty=10.0 indelGapOpenPenalty=45.0 indelHaplotypeSize=80 doContextDependentGapPenalties=true getGapPenaltiesFromData=false indel_recal_file=indel.recal_data.csv indelDebug=false dovit=false GSA_PRODUCTION_ONLY=false exactCalculation=LINEAR_EXPERIMENTAL ignoreSNPAlleles=false output_all_callable_bases=false genotype=false dbsnp=(RodBinding name=dbsnp source=DBsnp/b37/dbsnp_132_b37_sanger.vcf) out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub debug_file=null metrics_file=null annotation=[]" ##VariantAnnotator="analysis_type=VariantAnnotator input_file=[test_trio/reads.10462.recal.bam] sample_metadata=[] read_buffer_size=null phone_home=STANDARD read_filter=[] intervals=[./test_trio/Target_Intervals/chr22_target_interval.bed] excludeIntervals=null reference_sequence=reference_genome/HGC/Homo_sapiens_GRCh37_53.fasta rodBind=[] rodToIntervalTrackName=null BTI_merge_rule=UNION nonDeterministicRandomSeed=false downsampling_type=null downsample_to_fraction=null downsample_to_coverage=null baq=OFF baqGapOpenPenalty=40.0 performanceLog=null useOriginalQualities=false defaultBaseQualities=-1 validation_strictness=SILENT unsafe=null num_threads=1 interval_merging=ALL read_group_black_list=null processingTracker=null restartProcessingTracker=false processingTrackerStatusFile=null processingTrackerID=-1 allow_intervals_with_unindexed_bam=false disable_experimental_low_memory_sharding=false logging_level=INFO log_to_file=null help=false variant=(RodBinding name=variant source=test_trio/SNP/chr22_new_snp.vcf) snpEffFile=(RodBinding name= source=UNBOUND) dbsnp=(RodBinding name=dbsnp source=DBsnp/b37/dbsnp_132_b37_sanger.vcf) comp=[] resource=[] out=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub NO_HEADER=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub sites_only=org.broadinstitute.sting.gatk.io.stubs.VCFWriterStub annotation=[HaplotypeScore, FisherStrand, MappingQualityRankSumTest, ReadPosRankSumTest, RMSMappingQuality, DepthOfCoverage, QualByDepth] group=[] expression=[] useAllAnnotations=false list=false assume_single_sample_reads=null vcfContainsOnlyIndels=false" ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##contig= ##reference=file:///home/elliott/reference_genome/HGC/Homo_sapiens_GRCh37_53.fasta #CHROM POS ID REF ALT QUAL FILTER INFO FORMAT DNMSCZ5100233 Chr22 16256352 . T C 43.79 LowQual AC=1;AF=0.50;AN=2;BaseQRankSum=4.023;DP=347;Dels=0.00;HRun=0;HaplotypeScore=0.0000;MQ=4.05;MQ0=318;MQRankSum=-0.337;QD=0.13;ReadPosRankSum=0.652 GT:AD:DP:GQ:PL 0/1:172,175:347:50.10:74,0,50 Chr22 16256430 . A G 497.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-7.858;DP=533;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.6651;MQ=8.27;MQ0=352;MQRankSum=-1.257;QD=0.93;ReadPosRankSum=-0.856 GT:AD:DP:GQ:PL 0/1:262,269:533:99:527,0,341 Chr22 16256512 . T C 1320.63 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=13.097;DP=664;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=10.0005;MQ=10.83;MQ0=292;MQRankSum=0.422;QD=1.99;ReadPosRankSum=-0.094 GT:AD:DP:GQ:PL 0/1:295,369:664:99:1351,0,697 Chr22 16269934 . A G 775.82 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=7.474;DP=834;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=1.9774;MQ=11.52;MQ0=601;MQRankSum=-1.915;QD=0.93;ReadPosRankSum=-0.117 GT:AD:DP:GQ:PL 0/1:578,248:826:99:806,0,2272 Chr22 16449050 . G A 2505.21 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-11.133;DP=458;Dels=0.00;FS=2.911;HRun=0;HaplotypeScore=10.2021;MQ=17.69;MQ0=157;MQRankSum=2.263;QD=5.47;ReadPosRankSum=-2.541 GT:AD:DP:GQ:PL 0/1:264,190:458:99:2535,0,2578 Chr22 17072483 rs2236639 A G 5024.23 PASS AC=2;AF=1.00;AN=2;DB;DP=196;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=5.2075;MQ=34.43;MQ0=17;QD=25.63 GT:AD:DP:GQ:PL 1/1:0,196:196:99:5022,466,0 Chr22 17073066 rs5747988 A G 1309.48 PASS AC=2;AF=1.00;AN=2;DB;DP=46;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=1.3670;MQ=56.27;MQ0=0;QD=28.47 GT:AD:DP:GQ:PL 1/1:0,46:46:99:1342,123,0 Chr22 17082913 . A C 17.96 LowQual AC=1;AF=0.50;AN=2;BaseQRankSum=-0.467;DP=14;Dels=0.00;HRun=6;HaplotypeScore=0.8321;MQ=56.27;MQ0=0;MQRankSum=0.467;QD=1.28;ReadPosRankSum=-1.557 GT:AD:DP:GQ:PL 0/1:11,3:14:47.88:48,0,203 Chr22 17128089 rs76160126 G A 886.26 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-5.036;DB;DP=115;Dels=0.00;FS=3.900;HRun=0;HaplotypeScore=1.7356;MQ=29.84;MQ0=22;MQRankSum=-0.327;QD=7.71;ReadPosRankSum=-0.235 GT:AD:DP:GQ:PL 0/1:68,47:115:99:916,0,1008 Chr22 17156061 rs8142573 A G 2153.94 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=7.543;DB;DP=236;Dels=0.00;FS=0.552;HRun=0;HaplotypeScore=5.3265;MQ=38.54;MQ0=21;MQRankSum=0.638;QD=9.13;ReadPosRankSum=-1.070 GT:AD:DP:GQ:PL 0/1:146,90:236:99:2184,0,3255 Chr22 17156280 rs6518594 A G 10658.69 PASS AC=2;AF=1.00;AN=2;DB;DP=319;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.1983;MQ=57.22;MQ0=0;QD=33.41 GT:AD:DP:GQ:PL 1/1:0,319:319:99:10657,885,0 Chr22 17446991 rs4819925 C T 4098.66 PASS AC=2;AF=1.00;AN=2;DB;DP=112;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=1.6671;MQ=59.79;MQ0=0;QD=36.60 GT:AD:DP:GQ:PL 1/1:0,112:112:99:4098,325,0 Chr22 17469026 rs5992604 G A 467.43 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.866;DB;DP=37;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=2.7035;MQ=59.25;MQ0=0;MQRankSum=-1.960;QD=12.63;ReadPosRankSum=-0.471 GT:AD:DP:GQ:PL 0/1:19,18:37:99:497,0,490 Chr22 17469049 rs28502153 C A 380.12 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.164;DB;DP=29;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.9832;MQ=59.04;MQ0=0;MQRankSum=0.851;QD=13.11;ReadPosRankSum=1.942 GT:AD:DP:GQ:PL 0/1:14,15:29:99:410,0,424 Chr22 17539625 rs1054946 C G 14.92 LowQual AC=1;AF=0.50;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=7.46 GT:AD:DP:GQ:PL 0/1:0,2:2:1.76:45,3,0 Chr22 17565932 rs917864 T C 36.72 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=18.36 GT:AD:DP:GQ:PL 1/1:0,2:2:6.01:68,6,0 Chr22 17565974 rs917865 G C 41.87 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=20.93 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0 Chr22 17586471 rs2241046 C T 8817.64 PASS AC=2;AF=1.00;AN=2;DB;DP=255;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=2.4658;MQ=58.63;MQ0=0;QD=34.58 GT:AD:DP:GQ:PL 1/1:0,255:255:99:8817,719,0 Chr22 17589209 rs879577 C T 690.55 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.286;DB;DP=54;Dels=0.00;FS=1.114;HRun=0;HaplotypeScore=1.6281;MQ=60.00;MQ0=0;MQRankSum=0.684;QD=12.79;ReadPosRankSum=1.324 GT:AD:DP:GQ:PL 0/1:26,28:54:99:721,0,651 Chr22 17589567 rs879575 C T 506.78 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-3.799;DB;DP=32;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.230;QD=15.84;ReadPosRankSum=0.729 GT:AD:DP:GQ:PL 0/1:13,19:32:99:537,0,380 Chr22 17590269 rs4819555 C T 113.87 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.800;DB;DP=15;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=0.5784;MQ=58.45;MQ0=0;MQRankSum=-1.200;QD=7.59;ReadPosRankSum=0.533 GT:AD:DP:GQ:PL 0/1:10,5:15:99:144,0,295 Chr22 17591973 rs887795 G T 43.53 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=21.77 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:75,6,0 Chr22 17594216 rs9605216 A G 10.43 LowQual AC=1;AF=0.50;AN=2;DB;DP=1;Dels=0.00;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=10.43 GT:AD:DP:GQ:PL 0/1:0,1:1:1.76:40,3,0 Chr22 17596178 rs4819962 T C 41.69 LowQual AC=2;AF=1.00;AN=2;DB;DP=2;Dels=0.00;HRun=0;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=20.85 GT:AD:DP:GQ:PL 1/1:0,2:2:6.02:73,6,0 Chr22 17600148 rs9605220 A G 510.49 PASS AC=2;AF=1.00;AN=2;DB;DP=16;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;QD=31.91 GT:AD:DP:GQ:PL 1/1:0,16:16:42.14:543,42,0 Chr22 17600977 rs5994165 G A 921.06 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=4.317;DB;DP=62;Dels=0.00;FS=1.379;HRun=2;HaplotypeScore=0.0000;MQ=60.00;MQ0=0;MQRankSum=-0.472;QD=14.86;ReadPosRankSum=-0.416 GT:AD:DP:GQ:PL 0/1:30,32:62:99:951,0,761 Chr22 17630486 rs1034859 C A 4985.79 PASS AC=2;AF=1.00;AN=2;DB;DP=153;Dels=0.00;FS=0.000;HRun=0;HaplotypeScore=4.3875;MQ=59.06;MQ0=0;QD=32.59 GT:AD:DP:GQ:PL 1/1:1,152:153:99:4985,430,0