diff --git a/src/main/java/org/broadinstitute/hellbender/engine/MultiVariantWalkerGroupedByOverlap.java b/src/main/java/org/broadinstitute/hellbender/engine/MultiVariantWalkerGroupedByOverlap.java new file mode 100644 index 00000000000..9578671163e --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/engine/MultiVariantWalkerGroupedByOverlap.java @@ -0,0 +1,206 @@ +package org.broadinstitute.hellbender.engine; + +import htsjdk.samtools.util.Locatable; +import htsjdk.samtools.util.OverlapDetector; +import htsjdk.variant.variantcontext.Allele; +import htsjdk.variant.variantcontext.VariantContext; +import org.broadinstitute.barclay.argparser.Advanced; +import org.broadinstitute.barclay.argparser.Argument; +import org.broadinstitute.hellbender.exceptions.GATKException; +import org.broadinstitute.hellbender.utils.SimpleInterval; +import org.broadinstitute.hellbender.utils.Utils; + +import java.util.ArrayList; +import java.util.HashMap; +import java.util.List; +import java.util.Map; +import java.util.stream.Collectors; + + +/** + * A MultiVariantWalker that walks over multiple variant context sources in reference order and emits to client tools + * groups of all input variant contexts by their start position. This is intended to mimic GATK3 traversal behavior for + * some tools. + * + * As such, the argument '-ignore-variants-starting-outside-interval' has been provided to mimic GATK3's behavior + * only presenting variants that start inside the requested interval regardless of whether there is a spanning variant. + * + * Client tools must implement apply(List variantContexts, ReferenceContext referenceContext) + */ +public abstract class MultiVariantWalkerGroupedByOverlap extends MultiVariantWalker { + private List currentVariants = new ArrayList<>(); + private String lastCurrentVariantContig; + private int lastCurrentVariantEnd; + private List currentReadsContexts = new ArrayList<>(); + private OverlapDetector overlapDetector; + + public static final String IGNORE_VARIANTS_THAT_START_OUTSIDE_INTERVAL = "ignore-variants-starting-outside-interval"; + + public static final String COMBINE_VARIANTS_DISTANCE = "combine-variants-distance"; + + public static final String MAX_COMBINED_DISTANCE = "max-distance"; + + public static final String REFERENCE_WINDOW_PADDING = "ref-padding"; + + /** + * this option has no effect unless intervals are specified. + *

+ * This exists to mimic GATK3 interval traversal patterns + */ + @Advanced + @Argument(fullName = IGNORE_VARIANTS_THAT_START_OUTSIDE_INTERVAL, + doc = "Restrict variant output to sites that start within provided intervals (only applies when an interval is specified)", + optional = true) + protected boolean ignoreIntervalsOutsideStart = false; + + @Advanced + @Argument(fullName = COMBINE_VARIANTS_DISTANCE, doc = "Maximum distance for variants to be grouped together", optional = true) + protected int distanceToCombineVariants = defaultDistanceToGroupVariants(); + + @Advanced + @Argument(fullName = MAX_COMBINED_DISTANCE, doc = "Maximum distance for variants to be grouped together", optional = true) + protected int maxCombinedDistance = defaultMaxGroupedSpan(); + + @Advanced + @Argument(fullName = REFERENCE_WINDOW_PADDING, doc = "Number of bases on either side to expand spanning reference window", optional = true) + protected int referenceWindowPadding = defaultReferenceWindowPadding(); + + @Advanced + @Argument(fullName = "ignore-reference-blocks", shortName = "ignore-ref-blocks", optional = true) + protected boolean ignoreReferenceBlocks = false; + + // override to group variants that start nearby but not at the same locus + protected int defaultDistanceToGroupVariants() { + return 10000; + } + + // override to change reference padding + protected int defaultReferenceWindowPadding() { + return 1; + } + + // override to cap the size span of combined variants + protected int defaultMaxGroupedSpan() { + return Integer.MAX_VALUE; + } + + @Override + public boolean requiresReference() { + return true; + } + + /** + * This method keeps track of all the variants it is passed and will feed all the variants that start at the same + * site to the reduce method. + * + * {@inheritDoc} + */ + @Override + public final void apply(VariantContext variant, ReadsContext readsContext, ReferenceContext referenceContext, FeatureContext featureContext) { + + // Filtering out variants that start outside of the specified intervals + if (ignoreIntervalsOutsideStart && !isWithinInterval(new SimpleInterval(variant.getContig(), variant.getStart(), variant.getStart()))) { + return; + } + + if (ignoreReferenceBlocks && variant.getAlternateAlleles().size() ==1 && variant.getAlternateAllele(0).equals(Allele.NON_REF_ALLELE)) { + return; + } + + // Collecting all the reads that start at a particular base into one. + if (currentVariants.isEmpty()) { + lastCurrentVariantContig = variant.getContig(); + } else if (!currentVariants.get(0).contigsMatch(variant) + || variant.getStart() > lastCurrentVariantEnd) { + // Emptying any sites which should emit a new VC since the last one + apply(new ArrayList<>(currentVariants), currentReadsContexts); + currentVariants.clear(); + currentReadsContexts.clear(); + } + + currentVariants.add(variant); + currentReadsContexts.add(readsContext); + if (variant.getEnd() > lastCurrentVariantEnd || !lastCurrentVariantContig.equals(variant.getContig())) { + lastCurrentVariantEnd = variant.getEnd(); + lastCurrentVariantContig = variant.getContig(); + } + } + + /** + * This method must be implemented by tool authors. + * + * This is the primary traversal for any MultiVariantWalkerGroupedOnStart walkers. Will traverse over input variant contexts + * and call #apply() exactly once for each unique reference start position. All variants starting at each locus + * across source files will be grouped and passed as a list of VariantContext objects. + * @param variantContexts VariantContexts from driving variants with matching start position + * NOTE: This will never be empty + * @param referenceContext ReferenceContext object covering the reference of the longest spanning VariantContext + * @param readsContexts + */ + public abstract void apply(final List variantContexts, final ReferenceContext referenceContext, final List readsContexts); + + public void apply(List variantContexts, final List readsContexts) { + apply(variantContexts, makeSpanningReferenceContext(variantContexts, referenceWindowPadding), readsContexts); + } + + /** + * Helper method that ensures the reference context it returns is adequate to span the length of all the accumulated + * VariantContexts. It assumes that all variant contexts in currentVariants have the same contig. + */ + private ReferenceContext makeSpanningReferenceContext(final List variantContexts, final int referenceWindowPadding) { + Utils.nonEmpty(variantContexts, "Must have at least one current variant context"); + final List contigs = variantContexts.stream().map(VariantContext::getContig).distinct().collect(Collectors.toList()); + Utils.validate(contigs.size() == 1, "variant contexts should all have the same contig"); + final int minStart = variantContexts.stream().mapToInt(VariantContext::getStart).min().getAsInt(); + final int maxEnd = variantContexts.stream().mapToInt(VariantContext::getEnd).max().getAsInt(); + final SimpleInterval combinedInterval = new SimpleInterval(contigs.get(0), minStart, maxEnd); + + final ReferenceContext combinedReferenceContext = new ReferenceContext(reference, combinedInterval); + combinedReferenceContext.setWindow(referenceWindowPadding,referenceWindowPadding); + return combinedReferenceContext; + } + + /** + * {@inheritDoc} + * + * Implementation of multi-variant grouped on start traversal. + * + * NOTE: You should only override {@link #traverse()} if you are writing a new walker base class in the + * engine package that extends this class. It is not meant to be overridden by tools outside of the + * engine package. + */ + @Override + public void traverse() { + beforeTraverse(); + super.traverse(); + afterTraverse(); + } + + /** + * Marked final so that tool authors don't override it. Tool authors should override {@link #onTraversalStart} instead. + */ + private void beforeTraverse() { + overlapDetector = hasUserSuppliedIntervals() ? OverlapDetector.create(intervalArgumentCollection.getIntervals(getBestAvailableSequenceDictionary())) : null; + } + + /** + * @param loc locatable to query + * @return true if the query loc is entirely contained by the interval, true if no interval + */ + protected final boolean isWithinInterval(Locatable loc) { + return (overlapDetector==null || overlapDetector.overlapsAny(loc)); + } + + /** + * Clear accumulated reads before {@link #onTraversalSuccess()} is accessed + */ + private void afterTraverse() { + // Clearing the accumulator + if (currentVariants.isEmpty()) { + logger.warn("Error: The requested interval contained no data in source VCF files"); + + } else { + apply(currentVariants, currentReadsContexts); + } + } +} diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java index 7ba0a0baa24..f979b38dc9c 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/annotator/AnnotationUtils.java @@ -6,10 +6,12 @@ import org.apache.commons.lang3.StringUtils; import htsjdk.variant.vcf.VCFHeaderLineCount; import htsjdk.variant.vcf.VCFInfoHeaderLine; +import htsjdk.variant.vcf.VCFConstants; import org.broadinstitute.hellbender.tools.walkers.annotator.allelespecific.*; import org.broadinstitute.hellbender.utils.genotyper.AlleleLikelihoods; import org.broadinstitute.hellbender.utils.read.GATKRead; import org.broadinstitute.hellbender.utils.variant.GATKVCFHeaderLines; +import org.broadinstitute.hellbender.utils.variant.GATKVCFConstants; import java.util.*; diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCF.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCF.java index ef416e726b7..073b43fa0aa 100644 --- a/src/main/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCF.java +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/variantutils/ReblockGVCF.java @@ -487,7 +487,7 @@ private boolean isMonomorphicCallWithAlts(final VariantContext result) { final Genotype genotype = result.getGenotype(0); return (hasGenotypeValuesArray(posteriorsKey, genotype) && (genotype.isHomRef() || isNoCalledHomRef(posteriorsKey, genotype) || (genotype.hasPL() && MathUtils.minElementIndex(genotype.getPL()) == 0)) - && result.getAlternateAlleles().stream().anyMatch(this::isConcreteAlt)); + && result.getAlternateAlleles().stream().anyMatch(GATKVariantContextUtils::isConcreteAlt)); } /** @@ -526,26 +526,13 @@ boolean shouldBeReblocked(final VariantContext vc) { final List finalAlleles = alleleCounts.asAlleleList(vc.getAlleles()); return (pls != null && pls[0] < rgqThreshold) - || !genotypeHasConcreteAlt(finalAlleles) + || !GATKVariantContextUtils.genotypeHasConcreteAlt(finalAlleles) || finalAlleles.stream().anyMatch(a -> a.equals(Allele.NON_REF_ALLELE)) || (!genotype.hasPL() && !genotype.hasGQ() // If TREE_SCORE threshold is set to be > 0 then sites without TREE_SCORE should be reblocked. || vc.getAttributeAsDouble(GATKVCFConstants.TREE_SCORE, 0) < treeScoreThreshold); } - /** - * Is there a real ALT allele that's not or * ? - * @param alleles alleles in the called genotype - * @return true if the genotype has a called allele that is a "real" alternate - */ - private boolean genotypeHasConcreteAlt(final List alleles) { - return alleles.stream().anyMatch(this::isConcreteAlt); - } - - private boolean isConcreteAlt(final Allele a) { - return !a.isReference() && !a.isSymbolic() && !a.equals(Allele.SPAN_DEL); - } - /** * "reblock" a variant by converting its genotype to homRef, changing PLs, adding reblock END tags and other attributes * @param lowQualityVariant a variant already determined to be low quality diff --git a/src/main/java/org/broadinstitute/hellbender/tools/walkers/variantutils/VCFComparator.java b/src/main/java/org/broadinstitute/hellbender/tools/walkers/variantutils/VCFComparator.java new file mode 100644 index 00000000000..494f9a42857 --- /dev/null +++ b/src/main/java/org/broadinstitute/hellbender/tools/walkers/variantutils/VCFComparator.java @@ -0,0 +1,903 @@ +package org.broadinstitute.hellbender.tools.walkers.variantutils; + +import htsjdk.variant.variantcontext.*; +import htsjdk.variant.vcf.VCFConstants; +import org.apache.commons.collections4.CollectionUtils; +import org.broadinstitute.barclay.argparser.*; +import org.broadinstitute.hellbender.engine.*; +import org.broadinstitute.hellbender.exceptions.UserException; +import org.broadinstitute.hellbender.tools.walkers.annotator.*; +import org.broadinstitute.hellbender.tools.walkers.annotator.allelespecific.AS_StandardAnnotation; +import org.broadinstitute.hellbender.tools.walkers.genotyper.AlleleSubsettingUtils; +import org.broadinstitute.hellbender.tools.walkers.genotyper.GenotypeAssignmentMethod; +import org.broadinstitute.hellbender.utils.MathUtils; +import org.broadinstitute.hellbender.utils.variant.GATKVCFConstants; +import org.broadinstitute.hellbender.utils.variant.GATKVariantContextUtils; +import picard.cmdline.programgroups.VariantEvaluationProgramGroup; + +import java.io.PrintStream; +import java.util.*; +import java.util.stream.Collectors; + +/** + * A tool to allow for comparison of two single-sample GVCFs or multi-sample VCFs when some differences are expected + * input variants should be tagged "actual" or "expected" + * + * Example usage: + * java -jar gatk.jar VCFComparator -R ref.fasta -V:actual actual.vcf -V:expected expected.vcf + * + * Caveats: + * Reference blocks are not checked + * VCFComparator will ignore version-specific NaN versus empty AS_RAW annotation discrepancies + * VCFs are both expected to NOT have split multi-alleleics + */ +@ExperimentalFeature +@CommandLineProgramProperties( + summary = "Compare two VCFs, as for pipeline test updates", + oneLineSummary = "Compare two VCFs", + programGroup = VariantEvaluationProgramGroup.class +) +public class VCFComparator extends MultiVariantWalkerGroupedByOverlap { + public static final String ALLOW_NEW_STARS_LONG_NAME = "allow-new-stars"; + public static final String IGNORE_QUALS_LONG_NAME = "ignore-quals"; + public static final String DP_CHANGE_ALLOWED_LONG_NAME = "dp-change-allowed"; + public static final String RANK_SUM_CHANGE_ALLOWED_LONG_NAME = "ranksum-change-allowed"; + public static final String POSITIONS_ONLY_LONG_NAME = "positions-only"; + + private VariantAnnotatorEngine annotatorEngine; + private boolean isSingleSample = true; + private boolean alleleNumberIsDifferent = false; + private boolean inbreedingCoeffIsDifferent = false; + private final List annotationsThatVaryWithNoCalls = Arrays.asList(VCFConstants.ALLELE_NUMBER_KEY, GATKVCFConstants.INBREEDING_COEFFICIENT_KEY, + GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY, GATKVCFConstants.EXCESS_HET_KEY, + GATKVCFConstants.MLE_ALLELE_COUNT_KEY, GATKVCFConstants.MLE_ALLELE_FREQUENCY_KEY, VCFConstants.ALLELE_FREQUENCY_KEY, + VCFConstants.DEPTH_KEY, GATKVCFConstants.QUAL_BY_DEPTH_KEY, GATKVCFConstants.AS_QUAL_BY_DEPTH_KEY, + GATKVCFConstants.VQS_LOD_KEY, GATKVCFConstants.AS_VQS_LOD_KEY, GATKVCFConstants.AS_FILTER_STATUS_KEY, + GATKVCFConstants.CULPRIT_KEY, GATKVCFConstants.AS_CULPRIT_KEY); //AC should be the same + private boolean failOnCompletion = false; + + @Argument(fullName = "warn-on-errors", + shortName = "warn-on-errors", + doc = "just emit warnings on errors instead of terminating the run at the first instance. Won't fail unless --finish-before-failing is set", + optional = true) + private boolean warnOnError = false; + + @Argument(fullName = "finish-before-failing", + doc = "emit warnings as necesarry, but perform the whole comparison before failing", + optional= true) + private boolean finishBeforeFailing = false; + + @Argument(fullName = "default-ploidy", optional = true, doc = "Overall expected ploidy. Default value is 2.") + private int defaultPloidy = 2; + + @Argument(fullName = IGNORE_QUALS_LONG_NAME, optional = true, mutex={POSITIONS_ONLY_LONG_NAME}) + private boolean ignoreQuals = false; + + @Argument(fullName = "qual-change-allowed", optional = true) + private double qualTolerance = 0.001; + + @Argument(fullName = "inbreeding-coeff-change-allowed", optional = true) + private double inbreedingCoeffTolerance = 0.001; + + @Argument(fullName = "good-qual-threshold", optional = true, doc = "Variants with QUAL at or above this value are considered high quality and should appear in both files") + private double goodQualThreshold = 100.0; + + @Argument(fullName = DP_CHANGE_ALLOWED_LONG_NAME, optional = true, doc = "Note that this is a signed change (actual - expected)", mutex={POSITIONS_ONLY_LONG_NAME}) + private int dpChange = 0; + + @Argument(fullName = RANK_SUM_CHANGE_ALLOWED_LONG_NAME, optional = true, doc = "Amount of numerical 'noise' allowed in rank sum annotations") + private double ranksumTolerance = 0.0; + + @Argument(fullName = "likelihood-change-allowed", optional = true) + private int likelihoodTolerance = 0; + + @Argument(fullName = "ignore-non-ref-data", optional = true) + private boolean ignoreNonRefData = false; + + @Argument(fullName = "ignore-annotations", optional = true, doc = "Only match on position and alleles, ignoring all INFO annotations", mutex={POSITIONS_ONLY_LONG_NAME}) + private boolean ignoreAnnotations = false; + + @Argument(fullName = "ignore-genotype-annotations", optional = true, doc = "Only match on genotype call, ignoring all FORMAT annotations", mutex={POSITIONS_ONLY_LONG_NAME}) + private boolean ignoreGenotypeAnnotations = false; + + @Argument(fullName = "ignore-genotype-phasing", optional = true, doc = "Only check called genotype alleles, not order or phasing status") + private boolean ignoreGenotypePhasing = false; + + @Argument(fullName = "ignore-filters", optional = true, doc = "Ignore filter status when comparing variants", mutex={POSITIONS_ONLY_LONG_NAME}) + private boolean ignoreFilters = false; + + @Argument(fullName = "ignore-attribute", optional = true, doc = "Ignore INFO attributes with this key", mutex={POSITIONS_ONLY_LONG_NAME}) + private List ignoreAttributes = new ArrayList<>(5); + + @Argument(fullName = POSITIONS_ONLY_LONG_NAME, optional = true, doc = "Only match on position, ignoring alleles and annotations", mutex={}) + private boolean positionsOnly = false; + + @Argument(fullName = ALLOW_NEW_STARS_LONG_NAME, optional = true, doc = "Allow additional * alleles in actual if there is a corresponding deletion", mutex={POSITIONS_ONLY_LONG_NAME}) + private boolean allowNewStars = false; + + @Argument(fullName = "allow-extra-alleles", optional = true, doc = "Allow extra alleles in actual provided actual is a superset of expected", mutex={ALLOW_NEW_STARS_LONG_NAME, POSITIONS_ONLY_LONG_NAME}) + private boolean allowExtraAlleles = false; + + @Argument(fullName = "allow-missing-stars", optional = true, doc = "Allow missing * in actual if actual has no corresponding deletions") + private boolean allowMissingStars = false; + + @Argument(fullName = "ignore-star-attributes", optional = true, doc = "Ignore annotation values for spanning deletion (*) alleles") + private boolean ignoreStarAttributes = false; + + @Argument(fullName = "allow-nan-mismatch", optional = true, doc = "Allow VCF values of missing (.) and NaN to match") + private boolean allowNanMismatch = false; + + @Argument(fullName = "mute-acceptable-diffs", optional = true, doc = "Suppress warnings or exceptions for differences that are consequences of low quality genotypes or AN discrepancies") + private boolean muteDiffs = false; + + @Argument(fullName = "ignore-hom-ref-attributes", optional = true, doc = "Skip attribute comparison for homozygous reference genotypes") + private boolean ignoreHomRefAttributes = false; + + @Argument(fullName = "ignore-dbsnp-ids", optional = true) + private boolean ignoreDbsnp = false; + + @Advanced + @Argument(fullName=ReblockGVCF.ANNOTATIONS_TO_KEEP_LONG_NAME, doc="Annotations that are not recognized by GATK that should be checked, otherwise they are removed if ignore-non-ref-data is set.", optional = true) + private List annotationsToKeep = new ArrayList<>(); + + @Hidden + @Argument(fullName = "output-warnings", optional = true, doc = "Output warnings to a file, useful for testing") + private GATKPath warningsOutput = null; + + private PrintStream outputStream = null; + + @Override + public boolean doDictionaryCrossValidation() { + return false; + } //speed things up a bit + + @Override + public boolean useVariantAnnotations() { return true;} + + @Override + public List> getDefaultVariantAnnotationGroups() { + return Arrays.asList(StandardAnnotation.class, AS_StandardAnnotation.class); + } + + @Override + public void onTraversalStart() { + if (getDrivingVariantsFeatureInputs().size() != 2) { + throw new UserException.BadInput("VCFComparator expects exactly two inputs -- one actual and one expected."); + } + final List> expected = getDrivingVariantsFeatureInputs().stream().filter(file -> file.getName().equals("expected")).collect(Collectors.toList()); + if (expected.size() != 1) { + throw new UserException.BadInput("Tool requires exactly one expected input file"); + } + + annotatorEngine = new VariantAnnotatorEngine(makeVariantAnnotations(), null, Collections.emptyList(), false, false); + + isSingleSample = getSamplesForVariants().size() == 1 ? true : false; //if either expected or actual has more than one sample then we're not single-sample + + if (warningsOutput != null) { + outputStream = new PrintStream(warningsOutput.getOutputStream()); + } + } + + @Override + public void apply(final List variantContexts, final ReferenceContext referenceContext, final List readsContexts) { + if (isSingleSample && !variantContexts.get(0).getAlleles().contains(Allele.NON_REF_ALLELE)) { + throw new UserException.BadInput("Single-sample mode expects two GVCFs with data for comparison"); + } + + if (variantContexts.size() == 1) { + final VariantContext vc = variantContexts.get(0); + //TODO: if there's a variant that overlaps the requested interval the start may not be in the requested intervals + if (!muteDiffs) { + throwOrWarn(new UserException("Unmatched variant in " + vc.getSource() + " at position " + vc.getContig() + ":" + vc.getStart())); + //low coverage sites will have QUAL for singleton hom-vars boosted because of GQ0 hom-refs + } else if (hasGoodEvidence(vc)) { + throwOrWarn(new UserException("Unmatched variant in " + vc.getSource() + " at position " + vc.getContig() + ":" + vc.getStart())); + } + } + + //here we have all variants overlapping a given position + //if there's no actual for the expected (at the same position), see if the expected has an overlapping deletion + for (final VariantContext vc : variantContexts) { + if (vc.getSource().equals("actual")) { //there may be more expected than actual variants, but only compare once + continue; //TODO: this means we don't report cases where actual has multiple reference blocks spanning expected as unmatched + } + //vc is guaranteed to be from expected + + //variantContexts can have a bunch of overlapping variants, but use the start position to compare. Could still have two alleles with same start. + final List matches = variantContexts.stream().filter(v -> v.getStart() == vc.getStart()).collect(Collectors.toList()); + //matches includes vc (both actual and expected) + //TODO: matches.size() can be up to 2 times the number of haplotypes (based on ploidy). So checking only one match won't work for non-diploid organisms + if (matches.size() == 1 ) { + // if there's only one match, then it's the expected matching itself, so actual is missing the same vc start + // if it's a high quality site, throw an error/warning otherwise it's low quality so skip it + if (isHighQuality(vc) && hasGoodEvidence(vc) + && !vc.getGenotype(0).getAlleles().contains(Allele.SPAN_DEL)){ + throwOrWarn(new UserException("Apparent unmatched high quality variant in " + vc.getSource() + " at " + vc.getContig() + ":" + vc.getStart())); + } else { + return; + } + } else { + if ((!isHighQuality(vc) || (isSingleSample && !GATKVariantContextUtils.genotypeHasConcreteAlt(vc.getGenotype(0).getAlleles()))) + && ignoreHomRefAttributes) { + return; + } + final VariantContext match; + // VCFs are expected to NOT have split multi-alleleics + if (!matches.get(0).getSource().equals(vc.getSource())) { + match = matches.get(0); + } else { + match = matches.get(1); + } + + final List overlappingDels = variantContexts.stream().filter(v -> v.getStart() < vc.getStart() && v.overlaps(vc)) + .collect(Collectors.toList()); + + final VariantContext expectedTrimmed = trimAlleles(vc, overlappingDels); + final VariantContext actualTrimmed = trimAlleles(match, overlappingDels); + + //do single-sample GVCF checks, including deletion trimming and dropping + if (isSingleSample) { + try { + validateSingleSampleDeletions(vc, match, expectedTrimmed, actualTrimmed, overlappingDels); + } catch (UserException e) { + throwOrWarn(e); + } + } + + if (positionsOnly) { + return; + } + + //more rigorous checks on annotations and genotypes + try { + checkVariantContextsAreMatching(actualTrimmed, expectedTrimmed, overlappingDels); + } catch (UserException e) { + final boolean hasLowQualityGenotype = expectedTrimmed.getGenotypes().stream().anyMatch(g -> g.getGQ() < 20); + if (!muteDiffs || !(alleleNumberIsDifferent || inbreedingCoeffIsDifferent || hasLowQualityGenotype)) { + throwOrWarn(e); + } + } + + if (alleleNumberIsDifferent && !muteDiffs) { + logger.warn("Observed allele number differed at position " + vc.getContig() + ":" + vc.getStart()); + } + if (inbreedingCoeffIsDifferent && expectedTrimmed.getGenotypes().stream().anyMatch(g -> g.getGQ() < 20) && !muteDiffs) { + logger.warn("Low quality genotype may have caused inbreeding coeff differences at position " + vc.getContig() + ":" + vc.getStart()); + } + } + } + } + + private void validateSingleSampleDeletions(final VariantContext vc, final VariantContext match, + final VariantContext expectedTrimmed, final VariantContext actualTrimmed, + final List overlappingDels) { + final Genotype expectedGenotype = expectedTrimmed.getGenotype(0); + final List expectedGenotypeAlleles = expectedGenotype.getAlleles(); + final Genotype actualGenotype = actualTrimmed.getGenotype(0); + final List actualGenotypeAlleles = actualGenotype.getAlleles(); + + if (ignoreGenotypePhasing && !actualHasNewAlleles(expectedTrimmed, actualTrimmed)) { + return; + } + + // make sure both genotypes are not haploid and do use order here so we can check phasing + if (!expectedGenotypeAlleles.get(0).equals(actualGenotypeAlleles.get(0)) || ( expectedGenotypeAlleles.size() > 1 && actualGenotypeAlleles.size() > 1 && !expectedGenotypeAlleles.get(1).equals(actualGenotypeAlleles.get(1)))) { + if (expectedGenotype.isPhased() && expectedGenotypeAlleles.get(1).equals(actualGenotypeAlleles.get(0)) && expectedGenotypeAlleles.get(0).equals(actualGenotypeAlleles.get(1))) { + throw wrapWithPosition(vc.getContig(), vc.getStart(), new UserException("phasing is swapped. Actual in phaseset " + + actualGenotype.getExtendedAttribute(GATKVCFConstants.HAPLOTYPE_CALLER_PHASING_ID_KEY, "") + " has " + + actualGenotype.getGenotypeString(false) + + " expected in phaseset " + expectedGenotype.getExtendedAttribute(GATKVCFConstants.HAPLOTYPE_CALLER_PHASING_ID_KEY, "") + +" has " + expectedGenotype.getGenotypeString(false))); + } + if (overlappingDels.size() == 0) { + throw wrapWithPosition(vc.getContig(), vc.getStart(), makeGenotypeExceptionFromDifference("called genotype alleles", + actualGenotype.getGenotypeString(false), + expectedGenotype.getGenotypeString(false))); + } + + //this is okay if a star got corrected by dropping an upstream hom ref del + //could be dropped hom ref + if (overlappingDels.stream().anyMatch(v -> v.getGenotype(0).isHomRef())) { + try { + checkAttributes(vc.getAttributes(), match.getAttributes(), vc.getAlleles(), match.getAlleles(), vc.getPhredScaledQual()); + } catch (UserException e) { + throw wrapWithPosition(vc.getContig(), vc.getStart(), new UserException("INFO attributes do not match at " + vc.getContig() + ":" + vc.getStart())); + } + try { + checkGenotypes(expectedGenotype, actualGenotype); + } catch (final UserException e) { + throw wrapWithPosition(vc.getContig(), vc.getStart(), e); + } + } else if (overlappingDels.size() == 0 && expectedGenotypeAlleles.contains(Allele.SPAN_DEL) && !actualGenotypeAlleles.contains(Allele.SPAN_DEL)) { + return; + } else { + if (overlappingDels.stream().anyMatch(v -> v.getSource().equals("actual"))) { //there should be one overlapping that got trimmed and the other shouldn't overlap anymore + if (!allowMissingStars) { + throw wrapWithPosition(vc.getContig(), vc.getStart(), new UserException("genotype alleles do not match at spanning deletion site. " + + vc.getSource() + " has " + expectedGenotype.toString() + " and " + match.getSource() + " has " + + actualGenotype.toString())); + } + return; + } else { + final VariantContext overlapper = overlappingDels.get(0); + final VariantContext trimmedOverlapper = trimAlleles(overlapper, overlappingDels); + if (overlapper.overlaps(vc) && !trimmedOverlapper.overlaps(vc)) { + return; + } + } + + } + } + } + + private boolean hasGoodEvidence(final VariantContext vc) { + return (vc.getPhredScaledQual() > goodQualThreshold) + && (vc.getAttributeAsInt(VCFConstants.DEPTH_KEY,0)/(double)vc.getAttributeAsInt(VCFConstants.ALLELE_NUMBER_KEY,0)) > 5 + && vc.getGenotypes().stream().filter(g -> !g.isHomRef()).mapToInt(Genotype::getGQ).sum() > goodQualThreshold; + } + + private void checkVariantContextsAreMatching(final VariantContext actual, final VariantContext expected, + final List overlappingDels) { + if (!actual.getContig().equals(expected.getContig())) { + throw wrapWithPosition(expected.getContig(), expected.getStart(), new UserException("contigs differ for VCs")); + } + + if (actual.getStart() != expected.getStart()) { + throw wrapWithPosition(expected.getContig(), expected.getStart(), new UserException("start positions differ for VCs")); + } + + //don't check end in case we're being lenient about alleles + + //check alleles + if (actualHasNewAlleles(expected, actual)) { + try { + checkAlleles(actual, expected, overlappingDels); + } catch (final UserException e) { + throw wrapWithPosition(expected.getContig(), expected.getStart(), e); + } + } + + if (!ignoreDbsnp && !actual.getID().equals(expected.getID())) { //more alleles might mean more dbSNP matches + throw wrapWithPosition(expected.getContig(), expected.getStart(), new UserException("dbsnp IDs differ for VCs")); + } + + if (ignoreAnnotations) { + return; + } + + if (!ignoreQuals) { + final double diff = Math.abs(actual.getPhredScaledQual() - expected.getPhredScaledQual()); + if (diff > qualTolerance) { + throw wrapWithPosition(expected.getContig(), expected.getStart(), new UserException("qual scores differ by " + diff + ", which is more than " + qualTolerance)); + } + } + + try { + checkAttributes(actual.getAttributes(), expected.getAttributes(), actual.getAlternateAlleles(), expected.getAlternateAlleles(), expected.getPhredScaledQual()); + } catch (final UserException e) { + throw wrapWithPosition(expected.getContig() ,expected.getStart() , e); + } + + if (!alleleNumberIsDifferent) { + if (!ignoreFilters) { + if (actual.filtersWereApplied() != expected.filtersWereApplied()) { + throw wrapWithPosition(expected.getContig(), expected.getStart(), new UserException(" filters were not applied to both variants")); + } + if (!actual.getFilters().equals(expected.getFilters())) { + throw wrapWithPosition(expected.getContig(), expected.getStart(), new UserException("variants have different filters: expected has " + + (expected.getFilters().isEmpty() ? "PASS" : expected.getFilters()) + " and actual has " + actual.getFilters())); + } + } + + for (int i = 0; i < actual.getGenotypes().size(); i++) { + try { + checkGenotypes(actual.getGenotype(0), expected.getGenotype(0)); + } catch (final UserException e) { + throw wrapWithPosition(expected.getContig(), expected.getStart(), e); + } + } + } + } + + private void checkAlleles(final VariantContext actual, final VariantContext expected, final List overlappingDels) { + //TODO: this could be more rigorous + if (ignoreGenotypePhasing && !actualHasNewAlleles(actual, expected)) { + return; + } + if (!allowExtraAlleles && actualHasNewAlleles(actual, expected)) { + throw new UserException("Alleles are mismatched at " + actual.getContig() + ":" + actual.getStart() + ": actual has " + + actual.getAlternateAlleles() + " and expected has " + expected.getAlternateAlleles()); + + } else if (!allowNewStars && hasNewStar(actual, expected)) { + if (overlappingDels.size() == 0 || !overlappingDels.stream().anyMatch(vc -> vc.getSource().equals("actual"))) { + throw new UserException("Actual has new unmatched * allele. Alleles are mismatched at " + actual.getContig() + ":" + actual.getStart() + ": actual has " + + actual.getAlternateAlleles() + " and expected has " + expected.getAlternateAlleles()); + } + //this is a GenomicsDB/CombineGVCFs bug -- there is an overlapping deletion and * should be output, but those tools don't account for multiple haplotypes and upstream variant "ends" the deletion + } else if (!allowMissingStars && hasMissingStar(actual, expected)) { + final Set remainder = new LinkedHashSet<>(expected.getAlleles()); + remainder.removeAll(actual.getAlleles()); + if (remainder.size() > 1 || !remainder.contains(Allele.SPAN_DEL)) { + throw new UserException("Actual missing * allele. Alleles are mismatched at " + actual.getContig() + ":" + actual.getStart() + ": actual has " + + actual.getAlternateAlleles() + " and expected has " + expected.getAlternateAlleles()); + } + } else { + throw new UserException("Alleles are mismatched at " + actual.getContig() + ":" + actual.getStart() + ": actual has " + + actual.getAlternateAlleles() + " and expected has " + expected.getAlternateAlleles()); + } + } + + /** + * Compare VC alternate alleles + * @param actual + * @param expected + * @return + */ + private boolean actualHasNewAlleles(final VariantContext actual, final VariantContext expected) { + return !actual.getAlternateAlleles().stream().allMatch(a -> GATKVariantContextUtils.isAlleleInList( + actual.getReference(), a, expected.getReference(), expected.getAlternateAlleles())); + } + + private boolean hasMissingStar(final VariantContext actual, final VariantContext expected) { + return expected.getAlleles().contains(Allele.SPAN_DEL) && !actual.getAlleles().contains(Allele.SPAN_DEL); + } + + private boolean hasNewStar(final VariantContext actual, final VariantContext expected) { + return actual.getAlleles().contains(Allele.SPAN_DEL) && !expected.getAlleles().contains(Allele.SPAN_DEL); + } + + private UserException wrapWithPosition(final String contig, final int start, final UserException e) { + return new UserException("At position " + contig + ":" +start + " " + e.getMessage()); + } + + @SuppressWarnings("unchecked") + private void checkAttributes(final Map actual, final Map expected, + final List actualAlts, final List expectedAlts, + final double expectedQual) { + final Set expectedKeys = new LinkedHashSet<>(expected.keySet()); + + //do a precheck on AN because then we can't expect the rest of the annotations to match + alleleNumberIsDifferent = actual.containsKey(VCFConstants.ALLELE_NUMBER_KEY) && !isAttributeValueEqual(VCFConstants.ALLELE_NUMBER_KEY, actual.get(VCFConstants.ALLELE_NUMBER_KEY), + expected.get(VCFConstants.ALLELE_NUMBER_KEY)); + + if (actual.containsKey(GATKVCFConstants.INBREEDING_COEFFICIENT_KEY)) { + try { + inbreedingCoeffIsDifferent = !isAttributeEqualDoubleSmart(GATKVCFConstants.INBREEDING_COEFFICIENT_KEY, + Double.parseDouble(actual.get(GATKVCFConstants.INBREEDING_COEFFICIENT_KEY).toString()), + Double.parseDouble(expected.get(GATKVCFConstants.INBREEDING_COEFFICIENT_KEY).toString()), 0.001); + } catch (UserException e) { + inbreedingCoeffIsDifferent = true; + throw e; + } + } + + if (actual.containsKey(GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY) && !(actual.get(GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY) instanceof List)) { + try { + inbreedingCoeffIsDifferent = !isAttributeEqualDoubleSmart(GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY, + Double.parseDouble(actual.get(GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY).toString()), + Double.parseDouble(expected.get(GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY).toString()), 0.001); + } catch (final UserException e) { + inbreedingCoeffIsDifferent = true; + throw e; + } + } + + for (final Map.Entry exp : expected.entrySet()) { + final Object expectedValue = exp.getValue(); + final String key = exp.getKey(); + if (actual.containsKey(key) && actual.get(key) != null) { + //we already checked these + if (key.equals(GATKVCFConstants.INBREEDING_COEFFICIENT_KEY) + || key.equals(VCFConstants.ALLELE_NUMBER_KEY) + || (key.equals(GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY) && !(expected.get(key) instanceof List)) + || ignoreAttributes.contains(key)) { + continue; + } + final Object actualValue = actual.get(key); + if (expectedValue instanceof List && actualValue instanceof List || key.equals(GATKVCFConstants.AS_SB_TABLE_KEY)) { + // both values are lists, compare element by element + final List expectedList, actualList; + if (key.contains("AS_") || key.equals(GATKVCFConstants.AS_SB_TABLE_KEY)) { + expectedList = AnnotationUtils.decodeAnyASListWithRawDelim(expectedValue.toString()); + actualList = AnnotationUtils.decodeAnyASListWithRawDelim(actualValue.toString()); + } else { + expectedList = (List) expectedValue; + actualList = (List) actualValue; + } + if (actualList.size() != expectedList.size() && !key.contains("AS_")) { //TODO: account for subset alleles + throw makeVariantExceptionFromDifference("attributes", actual.keySet().toString(), + expected.keySet().toString()); + } + final List expectedListCommon, actualListCommon; + if (key.equals(VCFConstants.ALLELE_COUNT_KEY) || key.equals(GATKVCFConstants.MLE_ALLELE_COUNT_KEY)) { + if (!isACEqualEnough(key, actualList, expectedList, actualAlts, expectedAlts)) { + throw makeVariantExceptionFromDifference(key, actualList.toString(), expectedList.toString()); + } + } + //we've already gotten rid of stars... I think -- do we have to sort the alts? Maybe... I should be using my own AlleleSpecificAnnotationData!!! + final int iterationEnd = ignoreNonRefData && actualAlts.contains(Allele.NON_REF_ALLELE) ? expectedAlts.size()-1 : expectedAlts.size(); //exclusive + for (int i = 0; i < iterationEnd; i++) { + if (i >= actualList.size() || i >= expectedList.size()) { + //TODO: the toStrings here don't do a great job + throw makeVariantExceptionFromDifference(key, actualValue.toString(), expectedValue.toString()); + } + if (key.equals(GATKVCFConstants.AS_INBREEDING_COEFFICIENT_KEY)) { + final double actualPerAlleleValue = Double.parseDouble(actualList.get(i).toString()); + final double expectedPerAlleleValue = Double.parseDouble(expectedList.get(i).toString()); + if (!isAttributeEqualDoubleSmart(key, + actualPerAlleleValue, expectedPerAlleleValue, + inbreedingCoeffTolerance)) { + throw makeVariantExceptionFromDifference(key, Double.toString(actualPerAlleleValue), Double.toString(expectedPerAlleleValue)); + } + } + if (key.contains("AS_") && key.contains("RankSum")) { + final double actualPerAlleleValue, expectedPerAlleleValue; + if ((!((String) actualList.get(i)).isEmpty() && ((String) actualList.get(i)).equals("NaN"))) { + actualPerAlleleValue = Double.parseDouble(actualList.get(i).toString()); + expectedPerAlleleValue = Double.parseDouble(expectedList.get(i).toString()); + if (!isAttributeEqualDoubleSmart(key, + actualPerAlleleValue, expectedPerAlleleValue, + ranksumTolerance)) { + throw makeVariantExceptionFromDifference(key, Double.toString(actualPerAlleleValue), Double.toString(expectedPerAlleleValue)); + } + continue; + } else { + if (!muteDiffs && !allowNanMismatch) { + logger.warn("GATK version-specific NaN versus empty AS_RAW annotation discrepancy"); + } + } + } + //this needs some cleanup -- two exceptions?? + final boolean check; + try + {check = isAttributeValueEqual(key, actualList.get(i), expectedList.get(i)); } + catch (final UserException e){ + if (!ignoreStarAttributes && !actualAlts.get(i).equals(Allele.SPAN_DEL) && !actualAlts.get(i).equals(Allele.SPAN_DEL)) { + throw makeVariantExceptionFromDifference(key, actualList.get(i).toString(), expectedList.get(i).toString()); + } + } + } + } else { //if not list + try { + if (key.contains("RankSum") && !key.contains("AS_")) { + if (!isAttributeEqualDoubleSmart(key, Double.parseDouble(actualValue.toString()), Double.parseDouble(expectedValue.toString()), + ranksumTolerance)) { + throw makeVariantExceptionFromDifference(key, actualValue.toString(), actualValue.toString()); + } + } else { + isAttributeValueEqual(key, actualValue, expectedValue); + } + } catch (final UserException e) { + if (annotationsThatVaryWithNoCalls.contains(key) && alleleNumberIsDifferent) { + continue; + } else { + if (key.equals(GATKVCFConstants.QUAL_BY_DEPTH_KEY) || key.equals(GATKVCFConstants.AS_QUAL_BY_DEPTH_KEY)) { + final double actualDouble = Double.parseDouble(actualValue.toString()); + final double expectedDouble = Double.parseDouble(expectedValue.toString()); + final int expectedDP = Integer.parseInt(expected.get(VCFConstants.DEPTH_KEY).toString()); + if (qualByDepthDifferenceIsAcceptable(actualDouble, expectedDouble, expectedQual, expectedDP)) { //QD won't match if DP doesn't + if (!muteDiffs) { + logger.warn(key + " difference is within expected tolerances"); + } + continue; + } else { + final boolean isDepthEqual; + try { + isDepthEqual = isAttributeValueEqual(VCFConstants.DEPTH_KEY, actual.get(VCFConstants.DEPTH_KEY), expected.get(VCFConstants.DEPTH_KEY)); + } catch (final UserException e2) { + //check expected QD against expected AS_QD because in a few cases actual is wrong + if (!qualByDepthDifferenceIsAcceptable(Double.parseDouble(actual.get(GATKVCFConstants.QUAL_BY_DEPTH_KEY).toString()), + Double.parseDouble(actual.get(GATKVCFConstants.AS_QUAL_BY_DEPTH_KEY).toString()), expectedQual, expectedDP)) { + logger.warn(key + " difference (actual = " + actual.get(key) + " versus expected:" + + expected.get(key) + " is larger than expected, but so is DP (actual=" + + actual.get(VCFConstants.DEPTH_KEY) + " versus expected:" + expected.get(VCFConstants.DEPTH_KEY) + ")"); + } + continue; + } + if (isDepthEqual) { + throw e; + } + } + } + } + throw e; + } + } + } + expectedKeys.remove(key); + } + } + + /** + * Generate an exception to throw later + * @param thingToCompare the key to appear in the exception + * @param actual + * @param expected + * @return + */ + private UserException makeVariantExceptionFromDifference(final String thingToCompare, final String actual, final String expected) { + return new UserException("Variant contexts have different " + thingToCompare + ": actual has " + actual + + " expected has " + expected); + } + + /** + * Generate an exception to throw later + * @param thingToCompare the key to appear in the exception + * @param actual + * @param expected + * @return + */ + private UserException makeGenotypeExceptionFromDifference(final String thingToCompare, final String actual, final String expected) { + return new UserException("Genotypes have different " + thingToCompare + ": actual has " + actual + + " expected has " + expected); + } + + + /** + * + * @param key + * @param actual input VariantContext containing key + * @param expected input VariantContext containing key + * @return + */ + private boolean isAttributeValueEqual(final String key, final Object actual, final Object expected) { + if (allowNanMismatch && (actual.toString()).equals(".") && expected.toString().equals("NaN")) { + return true; + } + if (!actual.toString().equals(expected.toString())) { + throw new UserException("Variant contexts have different attribute values for " + key + ": actual has " + actual.toString() + + " and expected has " + expected.toString()); + } + return actual.toString().equals(expected.toString()); + + } + + private boolean isAttributeEqualDoubleSmart(final String key, final double actual, final double expected, final double tolerance) { + final double diff = Math.abs(actual - expected); + if (diff > tolerance) { + throw new UserException("Attribute " + key + " has difference " + String.format("%.3f", diff) + ", which is larger difference than allowed delta " + tolerance); + } + return true; + } + + private void checkGenotypes(final Genotype actual, final Genotype expected) { + if (!actual.getSampleName().equals(expected.getSampleName())) { + throw new UserException("Sample names do not match"); + } + if (!CollectionUtils.isEqualCollection(actual.getAlleles(), expected.getAlleles())) { + throw makeGenotypeExceptionFromDifference("alleles", actual.getAlleles().toString(), expected.getAlleles().toString()); + } + + if (!ignoreGenotypePhasing) { + if (!actual.getGenotypeString(false).equals(expected.getGenotypeString(false))) { + throw makeGenotypeExceptionFromDifference("genotype string", actual.getGenotypeString(false), expected.getGenotypeString(false)); + } + if (actual.isPhased() != expected.isPhased()) { + throw makeGenotypeExceptionFromDifference("phasing status", Boolean.toString(actual.isPhased()), Boolean.toString(expected.isPhased())); + } + } + if (ignoreHomRefAttributes && actual.isHomRef()) { + return; + } + if (actual.hasDP() != expected.hasDP()) { + throw makeGenotypeExceptionFromDifference("DP presence", Boolean.toString(actual.hasDP()), Boolean.toString(expected.hasDP())); + } + if (actual.hasAD() != expected.hasAD()) { + throw makeGenotypeExceptionFromDifference("AD presence", Boolean.toString(actual.hasAD()), Boolean.toString(expected.hasAD())); + } + if (actual.hasGQ() != expected.hasGQ()) { + throw makeGenotypeExceptionFromDifference("GQ presence", Boolean.toString(actual.hasGQ()), Boolean.toString(expected.hasGQ())); + } + if (!actual.isHomRef()) { + if (actual.hasGQ() && (Math.abs(actual.getGQ() - expected.getGQ())) > likelihoodTolerance) { + //allele subsetting can return GQs over 99, which apparently are capped on VCF write + if (actual.getGQ() < 99 || expected.getGQ() < 99) { + throw makeGenotypeExceptionFromDifference("GQ value", Integer.toString(actual.getGQ()), Integer.toString(expected.getGQ())); + } + } + } + if (ignoreGenotypeAnnotations) { + return; + } + //allow DP difference due to non-ref AD correction + if (actual.hasDP() && expected.hasDP()) { + if (actual.getDP() != expected.getDP()) { + if (dpChange == 0 && expected.getDP() - actual.getDP() != expected.getAD()[expected.getAD().length - 1]) { + throw makeGenotypeExceptionFromDifference("DP value", Integer.toString(actual.getDP()), Integer.toString(expected.getDP())); + } + if (actual.getDP() - expected.getDP() > dpChange) { + throw new UserException("DP difference exceeds allowable tolerance of " + dpChange + + ", actual has " + Integer.toString(actual.getDP()) + " expected has " + Integer.toString(expected.getDP())); + } + if (actual.hasAD() && (!Arrays.equals(actual.getAD(), expected.getAD()))) { + if (dpChange == 0 && actual.getAD()[actual.getAD().length - 1] == expected.getAD()[expected.getAD().length - 1]) { //non-ref differences are okay, but if there's an AD different that's not non-ref we're in trouble + throw makeGenotypeExceptionFromDifference("AD values", Arrays.toString(actual.getAD()), Arrays.toString(expected.getAD())); + } + for (int i = 0; i < actual.getAD().length - 1; i++) { + if (actual.getAD()[i] - expected.getAD()[i] > dpChange) { + throw new UserException("AD difference exceeds allowable tolerance of " + dpChange + + ", actual has " + actual.getAD().toString() + " expected has " + expected.getAD().toString()); + } + } + } + } + + if (actual.hasPL() != expected.hasPL()) { + throw makeGenotypeExceptionFromDifference("PL presence", Boolean.toString(actual.hasPL()), Boolean.toString(expected.hasPL())); + } + if (actual.hasPL() && expected.hasPL()) { + final int[] actualPls = actual.getPL(); + final int[] expectedPls = expected.getPL(); + if (actualPls.length != expectedPls.length) { + throw new UserException("PL lengths for genotype vary: actual is size " + actualPls.length + " and expected is " + expectedPls.length); + } + for (int i = 0; i < actualPls.length; i++) { + if (Math.abs(actualPls[i] - expectedPls[i]) > likelihoodTolerance) { + throw makeGenotypeExceptionFromDifference("PL value", Arrays.toString(actual.getPL()), Arrays.toString(expected.getPL())); + } + } + } + } + } + + private void throwOrWarn(final UserException e) { + if (muteDiffs && (alleleNumberIsDifferent || inbreedingCoeffIsDifferent)) { + return; + } + if (warnOnError || finishBeforeFailing) { + if (warningsOutput != null) { + outputStream.println(e.getMessage()); + } + logger.warn("***** " + e.getMessage() + " *****"); + if (finishBeforeFailing) { + failOnCompletion = true; + } + } else { + throw e; + } + } + + //Non-reblocked GVCFs can have alleles that aren't called, so trim them + private VariantContext trimAlleles(final VariantContext variant, final List overlappingDels) { + final Allele ref = variant.getReference(); + final Set relevantAlleles = new LinkedHashSet<>(); + for (final Genotype g : variant.getGenotypes()) { + final List gtAlleles = g.getAlleles(); + relevantAlleles.add(ref); + if (!gtAlleles.contains(Allele.NO_CALL)) { //in theory there could be half no-calls, but I've never seen one + if (overlappingDels.size() > 0) { + relevantAlleles.addAll(gtAlleles); + } else relevantAlleles.addAll(gtAlleles.stream().filter(GATKVariantContextUtils::isConcreteAlt).collect(Collectors.toList())); + } + } + final VariantContextBuilder vcBuilder = new VariantContextBuilder(variant); + final List orderedRelevantAlleles = new ArrayList<>(relevantAlleles); + if (vcBuilder.getGenotypes().size() == 1 && !ignoreNonRefData) { + orderedRelevantAlleles.add(Allele.NON_REF_ALLELE); + } + vcBuilder.alleles(orderedRelevantAlleles); + + //NOTE that we use BEST_MATCH_TO_ORIGINAL for post-reblocked VCFs with no hom ref PLs + final GenotypesContext gc = AlleleSubsettingUtils.subsetAlleles(variant.getGenotypes(), defaultPloidy, + variant.getAlleles(), orderedRelevantAlleles, null, GenotypeAssignmentMethod.BEST_MATCH_TO_ORIGINAL); + vcBuilder.genotypes(gc); + + final Map subsetAnnotations = ReblockGVCF.subsetAnnotationsIfNecessary(annotatorEngine, false, VCFConstants.GENOTYPE_POSTERIORS_KEY, variant, vcBuilder.make(), annotationsToKeep); + + return variant.getGenotype(0).isHomRef() ? vcBuilder.make() : GATKVariantContextUtils.reverseTrimAlleles(vcBuilder.attributes(subsetAnnotations).make()); + } + + /* + * Some code paths expect significant differences, so focusing on high quality variants is useful. + */ + private boolean isHighQuality(final VariantContext vc) { + if (vc.getGenotypes().size() == 1) { + //genotyping engine returns 0.01 for hom-ref SNPs, probably because of prior + final Genotype genotype = vc.getGenotype(0); + if (!genotype.hasPL()) { + return false; + } + if (genotype.isHomRef()) { + return false; + } + if (genotype.getPL()[0] == 0) { + return false; + } + if (genotype.getAlleles().contains(Allele.NON_REF_ALLELE)) { + return false; + } + return vc.getPhredScaledQual() > 0.01 && (MathUtils.arrayMax(genotype.getPL()) > 0); + } else { + for (final Genotype genotype : vc.getGenotypes()) { + if (genotype.isHomRef()) { + continue; + } + if (passesGnomadAdjCriteria(genotype)) { + return true; + } + } + return false; + } + } + + /* + * This is for known significant changes so we can compare only high quality genotypes as defined by these gnomAD adj criteria. + * https://gnomad.broadinstitute.org/news/2020-10-gnomad-v3-1-new-content-methods-annotations-and-data-availability/ + */ + private boolean passesGnomadAdjCriteria(final Genotype g) { + if (!g.hasGQ() || g.getGQ() < 20) { + return false; + } + if (!g.hasDP() || g.getDP() < 10) { + return false; + } + if (g.isHet()) { + if (!g.hasAD()) { + return false; + } + final int[] ad = g.getAD(); + final double alleleBalance; + if (g.isHetNonRef()) { + alleleBalance = ad[2] / ((double) ad[1] + ad[2]); + + } else { + alleleBalance = ad[1] / ((double) ad[0] + ad[1]); + } + if (alleleBalance >= 0.2 && alleleBalance <= 0.8) { + return true; + } + } + return false; + } + + private boolean isACEqualEnough(final String key, final List actualList, final List expectedList, + final List actualAlts, final List expectedAlts) { + if (actualList.size() != expectedList.size()) { + return false; + } + //trimming may drop AC=0 alts, but GATK convention is to put them last, so that shouldn't be an issue + for (int i = 0; i < actualAlts.size(); i++) { + if (actualAlts.get(i).equals(Allele.SPAN_DEL)) { + continue; + } + if (actualAlts.get(i).equals(expectedAlts.get(i))) { + final int expectedValue = Integer.parseInt(expectedList.get(i).toString()); + final int actualValue = Integer.parseInt(actualList.get(i).toString()); + //TODO: and....? + } else { + throwOrWarn(new UserException("Alleles are not ordered the same")); + return false; + } + } + return true; + } + + private boolean qualByDepthWillHaveJitter(final double expectedQual, final int expectedDepth) { + final double qdEstimate = expectedQual / (double) expectedDepth; + if (QualByDepth.fixTooHighQD(qdEstimate) != qdEstimate || qdEstimate > 34.9) { //I don't know why we get different values at 34.9 -- there must be rounding somewhere? + return true; + } + return false; + } + + private boolean qualByDepthDifferenceIsAcceptable(final double actual, final double expected, final double expectedQual, final int expectedDP) { + final double diff = Math.abs(expected - actual); + final double relativeDiff = diff / (expected); + return expected > 25.0 || relativeDiff < 0.01 || diff < 0.5 ////25 is in the "jitter" zone + || qualByDepthWillHaveJitter(expectedQual, expectedDP); + } + + public Object onTraversalSuccess() { + if (failOnCompletion) { + throw new UserException("Some comparisons failed. See stderr log for details."); + } + return null; + } + + @Override + public void closeTool() { + if ( outputStream != null ) { + outputStream.close(); + } + } +} diff --git a/src/main/java/org/broadinstitute/hellbender/utils/variant/GATKVariantContextUtils.java b/src/main/java/org/broadinstitute/hellbender/utils/variant/GATKVariantContextUtils.java index 5451aef6f54..61d5306069c 100644 --- a/src/main/java/org/broadinstitute/hellbender/utils/variant/GATKVariantContextUtils.java +++ b/src/main/java/org/broadinstitute/hellbender/utils/variant/GATKVariantContextUtils.java @@ -740,6 +740,19 @@ public static boolean containsInlineIndel(final Allele ref, final Collection or * ? + * @param alleles alleles in the called genotype + * @return true if the genotype has a called allele that is a "real" alternate + */ + public static boolean genotypeHasConcreteAlt(final List alleles) { + return alleles.stream().anyMatch(GATKVariantContextUtils::isConcreteAlt); + } + + public static boolean isConcreteAlt(final Allele a) { + return !a.isReference() && !a.isSymbolic() && !a.equals(Allele.SPAN_DEL); + } + public enum GenotypeMergeType { /** * Make all sample genotypes unique by file. Each sample shared across RODs gets named sample.ROD. diff --git a/src/test/java/org/broadinstitute/hellbender/tools/walkers/variantutils/VCFComparatorIntegrationTest.java b/src/test/java/org/broadinstitute/hellbender/tools/walkers/variantutils/VCFComparatorIntegrationTest.java new file mode 100644 index 00000000000..e60bf275a8d --- /dev/null +++ b/src/test/java/org/broadinstitute/hellbender/tools/walkers/variantutils/VCFComparatorIntegrationTest.java @@ -0,0 +1,116 @@ +package org.broadinstitute.hellbender.tools.walkers.variantutils; + +import org.broadinstitute.hellbender.CommandLineProgramTest; +import org.broadinstitute.hellbender.exceptions.UserException; +import org.testng.Assert; +import org.testng.annotations.DataProvider; +import org.broadinstitute.hellbender.testutils.ArgumentsBuilder; +import org.broadinstitute.hellbender.testutils.IntegrationTestSpec; +import org.testng.annotations.Test; + +import java.io.File; +import java.io.IOException; +import java.util.Arrays; + +public class VCFComparatorIntegrationTest extends CommandLineProgramTest { + + private static final String TEST_DATA_DIRECTORY = publicTestDir + "org/broadinstitute/hellbender/tools/walkers/VCFComparator/"; + private static final String TEST_OUTPUT_DIRECTORY = TEST_DATA_DIRECTORY + "/expected/"; + private static final String DEFAULT_WARP_SETTINGS = "--ignore-attribute VQSLOD --ignore-attribute AS_VQSLOD --ignore-filters --ignore-attribute culprit --ignore-attribute AS_culprit --ignore-attribute AS_FilterStatus --ignore-attribute ExcessHet --ignore-attribute AS_SOR --ignore-attribute AS_FS --ignore-attribute AS_BaseQRankSum --ignore-attribute AS_ReadPosRankSum --ignore-attribute AS_MQRankSum"; + + @DataProvider(name = "getTestVcfs") + public Object[][] getTestVcfs() { + return new Object[][] { + { " -L chr1:186475", "expected_warning_as_vqslod.txt" }, + { " -L chr1:186475 --ignore-attribute AS_VQSLOD", "empty_file.txt" }, + { " -L chr1:187471 --ignore-attribute AS_VQSLOD", "expected_warning_filter.txt" }, + { " -L chr1:186475-945669 " + DEFAULT_WARP_SETTINGS, "empty_file.txt" }, + { " -L chr1:945670 " + DEFAULT_WARP_SETTINGS, "qual_diff_warning.txt"}, // different QUAL values + { " -L chr1:945670 --qual-change-allowed 0.1 --ignore-attribute AS_VQSLOD", "empty_file.txt"}, + { " -L chr1:186475 --mute-acceptable-diffs", "empty_file.txt" } // low quality site is muted even though the AS_VQSLOD is different + }; + } + + @Test(dataProvider = "getTestVcfs") + public void testAnnotationDifferences(String args, String expectedWarnings) throws IOException { + final IntegrationTestSpec testSpec = new IntegrationTestSpec( + " -R " + hg38Reference + + " -V:actual " + TEST_DATA_DIRECTORY + "actual.vcf" + + " -V:expected " + TEST_DATA_DIRECTORY + "expected.vcf" + + " --output-warnings %s" + + " --warn-on-errors" + + args, + Arrays.asList(TEST_OUTPUT_DIRECTORY + expectedWarnings) + ); + testSpec.executeTest("testVcfs", this); + } + + @Test + public void testExpectedFailure() { + final File actual = new File(TEST_DATA_DIRECTORY + "actual.vcf"); + final File expected = new File(TEST_DATA_DIRECTORY + "expected.vcf"); + final ArgumentsBuilder args = new ArgumentsBuilder(); + args.addReference(hg38Reference); + args.add("V:actual", actual); + args.add("V:expected", expected); + args.addInterval("chr1:186475"); + args.add("warn-on-errors", true); + + //warn on errors alone shouldn't fail + runCommandLine(args); + + //adding finish-before-failing should fail + args.add("finish-before-failing", true); + Assert.assertThrows(UserException.class, () -> runCommandLine(args)); + } + + @DataProvider(name = "getTestGvcfs") + public Object[][] getTestGvcfs() { + return new Object[][] { + { " -L chr1:864084-864610", "empty_file.txt" }, //matching ref blocks + { " -L chr1:54682-347969", "ref_block_warning.txt"}, // non-matching ref block + { " -L chr1:792417", "tree_score_warning.txt"}, // variant site + { " -L chr1:792417 --ignore-non-ref-data --" + + ReblockGVCF.ANNOTATIONS_TO_KEEP_LONG_NAME + " TREE_SCORE", "tree_score_warning.txt"}, // when non-ref data is dropped non-GATK annotations can be dropped + { " -L chr1:792417 --ignore-attribute TREE_SCORE", "empty_file.txt"} + }; + } + + @Test(dataProvider = "getTestGvcfs") + public void testGvcfs(String args, String expectedWarnings) throws IOException { + final IntegrationTestSpec testSpec = new IntegrationTestSpec( + " -R " + hg38Reference + + " -V:actual " + TEST_DATA_DIRECTORY + "actual.NA12878.rb.g.vcf" + + " -V:expected " + TEST_DATA_DIRECTORY + "expected.NA12878.rb.g.vcf" + + " --output-warnings %s" + + " --warn-on-errors" + + args, + Arrays.asList(TEST_OUTPUT_DIRECTORY + expectedWarnings)); + testSpec.executeTest("testGvcfs", this); + } + + @Test + public void testMixedPloidy() throws IOException { + final IntegrationTestSpec expectDiploid = new IntegrationTestSpec( + " -R " + hg38Reference + + " -L chrX:66780645" + + " -V:actual " + TEST_DATA_DIRECTORY + "haploid.rb.g.vcf" + + " -V:expected " + TEST_DATA_DIRECTORY + "diploid.rb.g.vcf" + + " --output-warnings %s" + + " --warn-on-errors", + Arrays.asList(TEST_OUTPUT_DIRECTORY + "haploid_warning.txt")); + expectDiploid.executeTest("testMixedPloidy", this); + + // check the other way as far as which ploidy is expected vs actual + final IntegrationTestSpec expectHaploid = new IntegrationTestSpec( + " -R " + hg38Reference + + " -L chrX:66780645" + + " -V:actual " + TEST_DATA_DIRECTORY + "diploid.rb.g.vcf" + + " -V:expected " + TEST_DATA_DIRECTORY + "haploid.rb.g.vcf" + + " --output-warnings %s" + + " --warn-on-errors", + Arrays.asList(TEST_OUTPUT_DIRECTORY + "haploid_warning2.txt")); + expectHaploid.executeTest("testMixedPloidy", this); + } + +} diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.NA12878.rb.g.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.NA12878.rb.g.vcf new file mode 100644 index 00000000000..6c6c67d48fb 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C . . END=207666 GT:DP:GQ 0/0:5:0 +chr1 257667 . G . . END=297968 GT:DP:GQ 0/0:0:0 +chr1 347969 . G . . END=535988 GT:DP:GQ 0/0:0:0 +chr1 585989 . G . . END=792416 GT:DP:GQ 0/0:0:0 +chr1 792417 . C CA, 30.44 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.311083;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792417_C_CA:40,3,0,45,3,40:792417:0,0,1,0 +chr1 792418 . T . . END=792434 GT:DP:GQ 0/0:1:0 +chr1 792435 . T C, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.898068;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792417_C_CA:40,3,0,45,3,40:792417:0,0,1,0 +chr1 792436 . C . . END=792472 GT:DP:GQ 0/0:1:0 +chr1 792473 . C T, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.869101;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792474 . G . . END=792490 GT:DP:GQ 0/0:1:0 +chr1 792491 . G GA, 30.44 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.336054;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792492 . T . . END=792509 GT:DP:GQ 0/0:1:0 +chr1 792510 . T C, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.838672;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792511 . C . . END=792532 GT:DP:GQ 0/0:1:0 +chr1 792533 . A G, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.836882;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792534 . C . . END=853826 GT:DP:GQ 0/0:4:0 +chr1 853827 . CGCCGTGTGGTAAACTGATGAACCCCGACCCTGATCAACATGAGATGACT C, 65.60 . ASSEMBLED_HAPS=2;AS_QUALapprox=|73|0;AS_RAW_BaseQRankSum=|0.9,1|NaN;AS_RAW_MQ=3600.00|4292.00|0.00;AS_RAW_MQRankSum=|-1.0,1|NaN;AS_RAW_ReadPosRankSum=|0.0,1|NaN;AS_SB_TABLE=0,1|0,2|0,0;AS_VarDP=1|2|0;BaseQRankSum=0.967;DP=3;FILTERED_HAPS=0;MQRankSum=-0.967;QUALapprox=73;RAW_GT_COUNT=0,1,0;RAW_MQandDP=7892,3;ReadPosRankSum=0;TREE_SCORE=0.849228;VarDP=3 GT:AD:DP:GQ:PL:SB 0/1:1,2,0:3:36:73,0,36,84,42,117:0,1,0,2 +chr1 853877 . G . . END=854270 GT:DP:GQ 0/0:3:0 +chr1 854271 . A G, 35.48 . ASSEMBLED_HAPS=2;AS_QUALapprox=|45|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|324.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=45;RAW_GT_COUNT=0,0,1;RAW_MQandDP=324,1;TREE_SCORE=0.97165;VarDP=1 GT:AD:DP:GQ:PL:SB 1/1:0,1,0:1:3:45,3,0,45,3,45:0,0,0,1 +chr1 854272 . T . . END=864082 GT:DP:GQ 0/0:0:0 +chr1 864083 . T C, 35.48 . ASSEMBLED_HAPS=2;AS_QUALapprox=|45|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|676.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=45;RAW_GT_COUNT=0,0,1;RAW_MQandDP=676,1;TREE_SCORE=0.972834;VarDP=1 GT:AD:DP:GQ:PL:SB 1/1:0,1,0:1:3:45,3,0,45,3,45:0,0,0,1 +chr1 864084 . A . . END=864445 GT:DP:GQ 0/0:4:0 +chr1 864446 . C . . END=864455 GT:DP:GQ 0/0:7:20 +chr1 864456 . T . . END=864514 GT:DP:GQ 0/0:6:0 +chr1 864515 . G . . END=864524 GT:DP:GQ 0/0:7:20 +chr1 864525 . A . . END=864528 GT:DP:GQ 0/0:7:0 +chr1 864529 . C . . END=864550 GT:DP:GQ 0/0:8:20 +chr1 864551 . A . . END=864551 GT:DP:GQ 0/0:7:0 +chr1 864552 . T . . END=864575 GT:DP:GQ 0/0:7:20 +chr1 864576 . C . . END=864576 GT:DP:GQ 0/0:7:0 +chr1 864577 . T . . END=864607 GT:DP:GQ 0/0:7:20 +chr1 864608 . C . . END=864609 GT:DP:GQ 0/0:7:0 +chr1 864610 . T . . END=864626 GT:DP:GQ 0/0:7:20 +chr1 864627 . T C, 80.02 . ASSEMBLED_HAPS=2;AS_QUALapprox=|94|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|11044.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|3,4|0,0;AS_VarDP=0|7|0;DP=7;FILTERED_HAPS=0;QUALapprox=94;RAW_GT_COUNT=0,0,1;RAW_MQandDP=11044,7;TREE_SCORE=0.996562;VarDP=7 GT:AD:DP:GQ:PL:SB 1/1:0,7,0:7:21:94,21,0,315,21,94:0,0,3,4 +chr1 864628 . T . . END=864658 GT:DP:GQ 0/0:7:20 +chr1 864659 . A . . END=886481 GT:DP:GQ 0/0:4:0 +chr1 886482 . CACAGCAGCTGTGCTGTGTT C, 67.60 . ASSEMBLED_HAPS=54;AS_QUALapprox=|75|0;AS_RAW_BaseQRankSum=|0.0,1|NaN;AS_RAW_MQ=3600.00|10009.00|0.00;AS_RAW_MQRankSum=|-0.4,1|NaN;AS_RAW_ReadPosRankSum=|-1.2,1|NaN;AS_SB_TABLE=1,0|3,0|0,0;AS_VarDP=1|3|0;BaseQRankSum=0;DP=4;FILTERED_HAPS=43;MQRankSum=-0.319;QUALapprox=75;RAW_GT_COUNT=0,1,0;RAW_MQandDP=13609,4;ReadPosRankSum=-1.15;TREE_SCORE=0.963101;VarDP=4 GT:AD:DP:GQ:PL:SB 0/1:1,3,0:4:33:75,0,33,112,42,117:1,0,3,0 +chr1 886502 . A . . END=886506 GT:DP:GQ 0/0:4:0 +chr1 886507 . A G, 73.13 . ASSEMBLED_HAPS=54;AS_QUALapprox=|87|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|13609.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|4,0|0,0;AS_VarDP=0|4|0;DP=4;FILTERED_HAPS=43;QUALapprox=87;RAW_GT_COUNT=0,0,1;RAW_MQandDP=13609,4;TREE_SCORE=0.997634;VarDP=4 GT:AD:DP:GQ:PL:SB 1/1:0,4,0:4:12:87,12,0,166,12,87:0,0,4,0 +chr1 886508 . A . . END=886567 GT:DP:GQ 0/0:4:0 +chr1 886568 . T C, 70.83 . ASSEMBLED_HAPS=8;AS_QUALapprox=|84|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|10800.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|3,0|0,0;AS_VarDP=0|3|0;DP=3;FILTERED_HAPS=4;QUALapprox=84;RAW_GT_COUNT=0,0,1;RAW_MQandDP=10800,3;TREE_SCORE=0.99842;VarDP=3 GT:AD:DP:GQ:PL:SB 1/1:0,3,0:3:9:84,9,0,135,9,84:0,0,3,0 +chr1 886569 . G . . END=910957 GT:DP:GQ 0/0:2:0 +chr1 910958 . A G, 69.31 . ASSEMBLED_HAPS=29;AS_QUALapprox=|81|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|7200.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|2|0;DP=2;FILTERED_HAPS=14;QUALapprox=81;RAW_GT_COUNT=0,0,1;RAW_MQandDP=7200,2;TREE_SCORE=0.996788;VarDP=2 GT:AD:DP:GQ:PL:SB 1/1:0,2,0:2:6:81,6,0,90,6,81:0,0,0,2 +chr1 910959 . C . . END=911017 GT:DP:GQ 0/0:3:0 +chr1 911018 . G A, 73.13 . ASSEMBLED_HAPS=53;AS_QUALapprox=|87|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|14400.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|1,3|0,0;AS_VarDP=0|4|0;DP=4;FILTERED_HAPS=18;QUALapprox=87;RAW_GT_COUNT=0,0,1;RAW_MQandDP=14400,4;TREE_SCORE=0.99858;VarDP=4 GT:AD:DP:GQ:PL:SB 1/1:0,4,0:4:12:87,12,0,180,12,87:0,0,1,3 +chr1 911019 . C . . END=911084 GT:DP:GQ 0/0:5:0 +chr1 911085 . C T,CTG, 85.05 . ASSEMBLED_HAPS=92;AS_QUALapprox=|72|30|0;AS_RAW_BaseQRankSum=|0.0,1|0.6,1|NaN;AS_RAW_MQ=3600.00|7200.00|3600.00|0.00;AS_RAW_MQRankSum=|0.0,1|0.0,1|NaN;AS_RAW_ReadPosRankSum=|0.0,1|0.6,1|NaN;AS_SB_TABLE=1,0|0,2|0,1|0,0;AS_VarDP=1|2|1|0;BaseQRankSum=0.319;DP=5;FILTERED_HAPS=66;MQRankSum=0;QUALapprox=102;RAW_GT_COUNT=0,0,1;RAW_MQandDP=18000,5;ReadPosRankSum=0.319;TREE_SCORE=0.970667;VarDP=4 GT:AD:DP:GQ:PL:SB 1/2:1,2,1,0:4:30:102,30,36,72,0,75,114,42,84,117:1,0,0,3 +chr1 911086 . C . . END=911162 GT:DP:GQ 0/0:4:0 +chr1 911163 . G T, 64.74 . ASSEMBLED_HAPS=92;AS_QUALapprox=|72|0;AS_RAW_BaseQRankSum=|0.9,1|NaN;AS_RAW_MQ=3600.00|7200.00|0.00;AS_RAW_MQRankSum=|0.0,1|NaN;AS_RAW_ReadPosRankSum=|0.0,1|NaN;AS_SB_TABLE=1,0|0,2|0,0;AS_VarDP=1|2|0;BaseQRankSum=0.967;DP=4;FILTERED_HAPS=66;MQRankSum=0;QUALapprox=72;RAW_GT_COUNT=0,1,0;RAW_MQandDP=14400,4;ReadPosRankSum=0;TREE_SCORE=0.996968;VarDP=3 GT:AD:DP:GQ:PL:SB 0/1:1,2,0:3:6:72,0,6,84,12,87:1,0,0,2 +chr1 911164 . C . . END=911219 GT:DP:GQ 0/0:5:0 +chr1 911220 . CT C, 75.92 . ASSEMBLED_HAPS=92;AS_QUALapprox=|90|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|18000.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|3,2|0,0;AS_VarDP=0|5|0;DP=6;FILTERED_HAPS=66;QUALapprox=90;RAW_GT_COUNT=0,0,1;RAW_MQandDP=21600,6;TREE_SCORE=0.977651;VarDP=5 GT:AD:DP:GQ:PL:SB 1/1:0,5,0:5:15:90,15,0,150,15,90:0,0,3,2 +chr1 911222 . T . . END=911427 GT:DP:GQ 0/0:6:0 +chr1 911428 . C T, 70.83 . ASSEMBLED_HAPS=16;AS_QUALapprox=|84|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|10800.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|2,1|0,0;AS_VarDP=0|3|0;DP=3;FILTERED_HAPS=0;QUALapprox=84;RAW_GT_COUNT=0,0,1;RAW_MQandDP=10800,3;TREE_SCORE=0.998421;VarDP=3 GT:AD:DP:GQ:PL:SB 1/1:0,3,0:3:9:84,9,0,135,9,84:0,0,2,1 +chr1 911429 . G . . END=911483 GT:DP:GQ 0/0:3:0 +chr1 911484 . G C, 69.31 . ASSEMBLED_HAPS=16;AS_QUALapprox=|81|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|7200.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|2|0;DP=2;FILTERED_HAPS=0;QUALapprox=81;RAW_GT_COUNT=0,0,1;RAW_MQandDP=7200,2;TREE_SCORE=0.996826;VarDP=2 GT:AD:DP:GQ:PL:SB 1/1:0,2,0:2:6:81,6,0,90,6,81:0,0,1,1 +chr1 911485 . A . . END=911488 GT:DP:GQ 0/0:2:0 +chr1 911489 . G GA, 35.44 . ASSEMBLED_HAPS=16;AS_QUALapprox=|45|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|3600.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=2;FILTERED_HAPS=0;QUALapprox=45;RAW_GT_COUNT=0,0,1;RAW_MQandDP=7200,2;TREE_SCORE=0.336352;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:911489_G_GA:45,3,0,45,3,45:911489:0,0,1,0 +chr1 911490 . T . . END=911495 GT:DP:GQ 0/0:1:0 +chr1 911496 . TG T, 35.44 . ASSEMBLED_HAPS=16;AS_QUALapprox=|45|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|3600.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=45;RAW_GT_COUNT=0,0,1;RAW_MQandDP=3600,1;TREE_SCORE=0.401471;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:911489_G_GA:45,3,0,45,3,45:911489:0,0,1,0 +chr1 911498 . G . . END=918107 GT:DP:GQ 0/0:0:0 +chr1 918108 . G A, 35.48 . ASSEMBLED_HAPS=2;AS_QUALapprox=|45|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|3600.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=45;RAW_GT_COUNT=0,0,1;RAW_MQandDP=3600,1;TREE_SCORE=0.98105;VarDP=1 GT:AD:DP:GQ:PL:SB 1/1:0,1,0:1:3:45,3,0,45,3,45:0,0,1,0 +chr1 918109 . G . . END=918787 GT:DP:GQ 0/0:3:0 +chr1 918788 . C T, 35.48 . ASSEMBLED_HAPS=2;AS_QUALapprox=|45|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|3600.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=45;RAW_GT_COUNT=0,0,1;RAW_MQandDP=3600,1;TREE_SCORE=0.983445;VarDP=1 GT:AD:DP:GQ:PL:SB 1/1:0,1,0:1:3:45,3,0,45,3,45:0,0,1,0 +chr1 918789 . A . . END=922447 GT:DP:GQ 0/0:0:0 +chr1 922448 . A G, 66.64 . ASSEMBLED_HAPS=8;AS_QUALapprox=|74|0;AS_RAW_BaseQRankSum=|-0.5,1|NaN;AS_RAW_MQ=3600.00|7200.00|0.00;AS_RAW_MQRankSum=|0.0,1|NaN;AS_RAW_ReadPosRankSum=|-1.0,1|NaN;AS_SB_TABLE=0,1|1,1|0,0;AS_VarDP=1|2|0;BaseQRankSum=-0.431;DP=3;FILTERED_HAPS=4;MQRankSum=0;QUALapprox=74;RAW_GT_COUNT=0,1,0;RAW_MQandDP=10800,3;ReadPosRankSum=-0.967;TREE_SCORE=0.998366;VarDP=3 GT:AD:DP:GQ:PL:SB 0/1:1,2,0:3:36:74,0,36,77,42,117:0,1,1,1 +chr1 922449 . G . . END=922672 GT:DP:GQ 0/0:5:0 +chr1 922673 . T . . END=922678 GT:DP:GQ 0/0:7:20 +chr1 922679 . G . . END=922679 GT:DP:GQ 0/0:6:0 +chr1 922680 . A . . END=922680 GT:DP:GQ 0/0:7:20 +chr1 922681 . G . . END=922681 GT:DP:GQ 0/0:6:0 +chr1 922682 . C . . END=922684 GT:DP:GQ 0/0:7:20 +chr1 922685 . T . . END=922686 GT:DP:GQ 0/0:7:0 +chr1 922687 . C . . END=922690 GT:DP:GQ 0/0:7:20 +chr1 922691 . C . . END=922701 GT:DP:GQ 0/0:7:0 +chr1 922702 . C . . END=922711 GT:DP:GQ 0/0:7:20 +chr1 922712 . T . . END=950541 GT:DP:GQ 0/0:4:0 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.NA12878.rb.g.vcf.idx b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.NA12878.rb.g.vcf.idx new file mode 100644 index 00000000000..ea94cd86b68 Binary files /dev/null and b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.NA12878.rb.g.vcf.idx differ diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.vcf new file mode 100644 index 00000000000..213549fd5bf --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/actual.vcf @@ -0,0 +1,3467 @@ +##fileformat=VCFv4.2 +##ALT= +##FILTER= 54.69"> +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FILTER= +##FORMAT= 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G A 97359.39 ExcessHet AC=74;AF=0.569;AN=130;AS_BaseQRankSum=0.000;AS_FS=4.039;AS_InbreedingCoeff=-0.7568;AS_MQ=29.24;AS_MQRankSum=-0.400;AS_QD=17.72;AS_ReadPosRankSum=0.050;AS_SOR=0.989;BaseQRankSum=0.058;DP=5503;ExcessHet=100.7690;FS=4.039;InbreedingCoeff=-0.7568;MLEAC=74;MLEAF=0.569;MQ=29.46;MQRankSum=-3.180e-01;QD=17.72;ReadPosRankSum=0.110;SOR=0.991 GT:AD:DP:GQ:PGT:PID:PL 0/1:33,235:271:99:.:.:7017,0,616 1/1:9,236:245:99:.:.:7627,450,0 0/1:131,138:269:99:.:.:2911,0,3374 0/1:93,207:300:99:.:.:6270,0,1857 0/1:18,53:71:99:0|1:187485_G_A:1410,0,246 0/1:18,41:59:99:0|1:187485_G_A:1145,0,299 0/1:44,46:90:99:.:.:1011,0,919 0/1:26,20:46:99:0|1:187485_G_A:598,0,582 0/1:53,49:102:99:0|1:187485_G_A:1184,0,1070 0/1:28,63:91:99:0|1:187485_G_A:2155,0,486 0/1:19,37:56:99:0|1:187485_G_A:1017,0,356 0/1:12,75:87:51:.:.:2110,0,51 0/1:32,49:81:99:0|1:187485_G_A:1489,0,616 0/1:55,35:90:99:.:.:676,0,1231 0/1:25,29:54:99:.:.:666,0,511 1/1:0,27:27:81:.:.:751,81,0 0/1:36,26:62:99:.:.:519,0,810 0/1:35,55:90:99:0|1:187485_G_A:1513,0,681 0/1:26,48:74:99:0|1:187485_G_A:1506,0,471 0/1:24,50:74:99:0|1:187485_G_A:1421,0,411 0/1:23,27:50:99:0|1:187485_G_A:822,0,471 0/1:16,63:79:99:.:.:1442,0,168 0/1:22,61:83:99:0|1:187485_G_A:2141,0,345 0/1:72,15:87:99:.:.:162,0,1680 0/1:38,34:72:99:.:.:736,0,816 0/1:37,41:78:99:0|1:187485_G_A:1062,0,750 0/1:22,70:92:99:0|1:187485_G_A:1904,0,324 0/1:26,77:103:99:0|1:187485_G_A:2415,0,387 1/1:0,31:31:93:.:.:841,93,0 0/1:25,34:59:99:.:.:710,0,515 1/1:0,51:51:99:1|1:187485_G_A:1640,153,0 0/1:43,39:82:99:.:.:806,0,923 1/1:4,57:61:84:.:.:1436,84,0 0/1:46,46:92:99:.:.:958,0,977 0/1:24,43:67:99:0|1:187485_G_A:1301,0,460 0/1:19,20:39:99:.:.:452,0,396 0/1:42,36:78:99:.:.:765,0,870 0/1:38,38:76:99:.:.:802,0,786 0/1:18,58:76:99:0|1:187485_G_A:1530,0,265 0/1:52,25:77:99:.:.:537,0,1213 0/1:39,25:64:99:0|1:187485_G_A:794,0,794 0/1:28,110:138:99:0|1:187485_G_A:3079,0,354 0/1:40,18:58:99:.:.:320,0,904 0/1:17,52:69:99:0|1:187485_G_A:1338,0,262 0/1:10,45:55:93:.:.:1053,0,93 0/1:34,41:75:99:0|1:187485_G_A:1180,0,705 1/1:0,39:39:99:1|1:187485_G_A:1489,117,0 1/1:0,33:33:99:.:.:861,99,0 0/1:13,61:74:99:0|1:187485_G_A:1602,0,131 0/1:25,46:71:99:0|1:187485_G_A:1203,0,459 0/1:26,43:69:99:0|1:187485_G_A:1472,0,494 1/1:0,89:89:99:.:.:2606,267,0 0/1:42,51:93:99:0|1:187485_G_A:1308,0,866 0/1:14,68:82:99:.:.:1692,0,134 0/1:40,48:88:99:.:.:1016,0,787 0/1:27,17:44:99:.:.:321,0,606 0/1:18,63:81:99:0|1:187485_G_A:1650,0,240 0/1:33,36:69:99:.:.:977,0,673 0/1:20,41:61:99:.:.:1034,0,336 0/1:25,22:47:99:.:.:458,0,529 0/1:24,37:61:99:.:.:807,0,473 1/1:0,39:39:99:.:.:1071,117,0 0/1:55,93:148:99:.:.:2652,0,1049 0/1:37,44:81:99:0|1:187485_G_A:1163,0,735 0/1:65,32:97:99:.:.:550,0,1508 +chr1 187499 . A G 296.62 VQSRTrancheSNP99.00to99.90+ AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=1.700;AS_FS=93.945;AS_FilterStatus=VQSRTrancheSNP99.00to99.90+;AS_InbreedingCoeff=-0.0078;AS_MQ=28.65;AS_MQRankSum=0.400;AS_QD=1.03;AS_ReadPosRankSum=1.300;AS_SOR=2.365;AS_VQSLOD=-73.0456;AS_culprit=AS_FS;BaseQRankSum=1.75;DP=2977;ExcessHet=0.0000;FS=93.945;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=28.19;MQRankSum=0.454;QD=1.03;ReadPosRankSum=1.37;SOR=2.365 GT:AD:DP:GQ:PL 0/1:255,32:287:99:315,0,10200 0/0:193,0:193:60 0/0:178,0:178:60 0/0:203,0:203:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:38,0:38:60 0/0:39,0:39:60 0/0:36,0:36:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:39,0:39:60 0/0:33,0:33:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:42,0:42:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:36,0:36:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:39,0:39:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:35,0:35:60 +chr1 805887 rs201849753 T C 2153.83 PASS AC=4;AF=0.031;AN=130;AS_BaseQRankSum=-0.550;AS_FS=2.750;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0317;AS_MQ=29.60;AS_MQRankSum=-0.850;AS_QD=9.32;AS_ReadPosRankSum=-0.100;AS_SOR=0.919;AS_VQSLOD=-3.4000;AS_culprit=AS_MQ;BaseQRankSum=-1.950e-01;DB;DP=2215;ExcessHet=0.2060;FS=2.750;InbreedingCoeff=-0.0317;MLEAC=4;MLEAF=0.031;MQ=31.15;MQRankSum=0.211;QD=9.32;ReadPosRankSum=0.525;SOR=0.919 GT:AD:DP:GQ:PL 0/0:22,0:22:50 0/0:30,0:30:60 0/0:33,0:33:60 0/0:28,0:28:60 0/0:36,0:36:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:28,0:28:60 0/1:35,22:57:99:500,0,830 0/0:29,0:29:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:40,0:40:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:31,0:31:60 0/1:32,35:67:99:770,0,722 0/0:32,0:32:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:31,0:31:60 0/0:30,0:30:60 0/1:27,19:46:99:413,0,646 0/0:32,0:32:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:33,0:33:60 0/1:36,25:61:99:520,0,820 0/0:28,0:28:60 0/0:30,0:30:60 0/0:41,0:41:60 0/0:34,0:34:60 0/0:39,0:39:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:29,0:29:60 0/0:31,0:31:60 +chr1 873542 rs6594027 G A 360292.25 PASS AC=123;AF=0.946;AN=130;AS_BaseQRankSum=2.600;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0569;AS_MQ=42.71;AS_MQRankSum=0.850;AS_QD=30.67;AS_ReadPosRankSum=-1.300;AS_SOR=0.875;AS_VQSLOD=0.6987;AS_culprit=AS_MQRankSum;BaseQRankSum=2.68;DB;DP=9543;ExcessHet=0.7388;FS=0.000;InbreedingCoeff=-0.0569;MLEAC=123;MLEAF=0.946;MQ=42.59;MQRankSum=1.08;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=26.61;ReadPosRankSum=-1.219e+00;SOR=0.875 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,304:304:99:.:.:11825,914,0 1/1:0,295:295:99:1|1:873542_G_A:13243,900,0 1/1:0,229:229:99:1|1:873542_G_A:9061,695,0 1/1:0,252:252:99:1|1:873542_G_A:11407,771,0 1/1:0,164:164:99:1|1:873542_G_A:5883,496,0 1/1:0,132:132:99:1|1:873542_G_A:4996,397,0 0/1:39,162:201:99:0|1:873542_G_A:6706,0,1362 1/1:0,128:128:99:.:.:4832,394,0 1/1:0,145:145:99:1|1:873542_G_A:6515,445,0 1/1:0,121:121:99:.:.:4865,370,0 1/1:0,123:123:99:1|1:873542_G_A:4718,373,0 1/1:0,160:160:99:1|1:873542_G_A:7031,485,0 1/1:0,125:125:99:.:.:4931,376,0 0/1:27,128:155:99:.:.:4576,0,306 1/1:0,143:143:99:.:.:5677,433,0 1/1:1,184:185:99:.:.:7035,559,0 1/1:0,161:161:99:1|1:873542_G_A:6171,484,0 0/1:34,163:197:99:0|1:873542_G_A:6640,0,1206 1/1:0,122:122:99:.:.:4878,376,0 1/1:0,134:134:99:1|1:873542_G_A:6156,430,0 1/1:0,131:131:99:1|1:873542_G_A:5024,397,0 1/1:0,135:135:99:.:.:5222,412,0 1/1:1,130:131:99:1|1:873542_G_A:5826,400,0 1/1:0,144:144:99:.:.:5480,436,0 1/1:1,139:140:99:.:.:4523,394,0 1/1:0,118:118:99:.:.:5406,376,0 1/1:0,150:150:99:.:.:5863,460,0 1/1:0,160:160:99:1|1:873542_G_A:7181,491,0 1/1:0,121:121:99:1|1:873542_G_A:4672,367,0 1/1:0,111:111:99:1|1:873542_G_A:5013,346,0 1/1:0,143:143:99:1|1:873542_G_A:6487,445,0 1/1:0,155:155:99:.:.:6278,478,0 1/1:0,146:146:99:.:.:4667,439,0 1/1:0,138:138:99:.:.:4412,414,0 1/1:0,117:117:99:.:.:4646,361,0 0/1:28,169:197:99:0|1:873542_G_A:6911,0,888 1/1:1,138:139:99:.:.:5153,421,0 1/1:2,117:119:99:.:.:3826,352,0 0/1:34,136:170:99:.:.:3848,0,428 1/1:0,106:106:99:.:.:3432,318,0 1/1:0,145:145:99:.:.:4595,436,0 1/1:0,139:139:99:1|1:873542_G_A:6251,427,0 1/1:0,126:126:99:.:.:4231,379,0 1/1:0,135:135:99:.:.:4336,406,0 1/1:0,133:133:99:.:.:4297,400,0 1/1:0,129:129:99:1|1:873542_G_A:4977,394,0 1/1:0,133:133:99:1|1:873542_G_A:5071,403,0 0/1:36,138:174:99:.:.:4024,0,493 1/1:1,117:118:99:.:.:4595,355,0 1/1:0,150:150:99:1|1:873542_G_A:5788,454,0 1/1:0,105:105:99:.:.:4084,322,0 1/1:0,144:144:99:1|1:873542_G_A:5583,436,0 1/1:0,139:139:99:.:.:4531,418,0 1/1:0,128:128:99:.:.:4156,385,0 1/1:0,136:136:99:.:.:5162,424,0 1/1:0,125:125:99:1|1:873542_G_A:5604,385,0 1/1:0,112:112:99:1|1:873542_G_A:4284,343,0 1/1:0,139:139:99:.:.:4576,418,0 1/1:0,105:105:99:1|1:873542_G_A:4696,322,0 1/1:0,97:97:99:.:.:3085,291,0 1/1:1,110:111:99:1|1:873542_G_A:4202,334,0 0/1:47,140:187:99:0|1:873542_G_A:5837,0,1644 1/1:0,136:136:99:.:.:4302,409,0 1/1:0,92:92:99:1|1:873542_G_A:4198,289,0 1/1:0,148:148:99:1|1:873542_G_A:5733,451,0 +chr1 873548 rs11240780 C T 180143.50 PASS AC=63;AF=0.485;AN=130;AS_BaseQRankSum=0.000;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0779;AS_MQ=45.20;AS_MQRankSum=0.100;AS_QD=23.59;AS_ReadPosRankSum=-0.200;AS_SOR=0.663;AS_VQSLOD=2.6122;AS_culprit=AS_MQ;BaseQRankSum=0.059;DB;DP=8868;ExcessHet=4.2585;FS=0.000;InbreedingCoeff=-0.0779;MLEAC=63;MLEAF=0.485;MQ=44.97;MQRankSum=0.142;POSITIVE_TRAIN_SITE;QD=23.59;ReadPosRankSum=-1.070e-01;SOR=0.663 GT:AD:DP:GQ:PGT:PID:PL 0/1:155,150:305:99:.:.:4084,0,4165 1/1:0,293:293:99:1|1:873542_G_A:13081,888,0 0/1:115,124:239:99:0|1:873542_G_A:3315,0,3009 1/1:0,259:259:99:1|1:873542_G_A:11566,786,0 0/1:77,86:163:99:0|1:873542_G_A:1719,0,1472 0/1:82,65:147:99:0|1:873542_G_A:1554,0,2136 0/1:38,181:219:99:0|1:873542_G_A:7109,0,1269 0/1:70,66:136:99:.:.:1675,0,1719 1/1:0,150:150:99:1|1:873542_G_A:6630,460,0 0/1:53,78:131:99:.:.:2008,0,1263 0/1:74,57:131:99:0|1:873542_G_A:1524,0,1882 1/1:0,152:152:99:1|1:873542_G_A:6839,467,0 0/1:59,70:129:99:.:.:1778,0,1540 0/1:84,74:158:99:.:.:1734,0,2852 0/1:67,85:152:99:.:.:2241,0,1738 0/1:105,92:197:99:.:.:2277,0,2734 0/1:76,84:160:99:0|1:873542_G_A:2155,0,1890 0/1:33,161:194:99:0|1:873542_G_A:6630,0,1185 0/1:58,72:130:99:.:.:1878,0,1508 1/1:0,138:138:99:1|1:873542_G_A:6127,427,0 0/1:69,61:130:99:0|1:873542_G_A:1516,0,1871 0/1:75,68:143:99:.:.:1703,0,1938 1/1:1,139:140:99:1|1:873542_G_A:6079,424,0 0/1:83,70:153:99:.:.:1765,0,2124 0/0:35,0:35:60 1/1:2,124:126:99:.:.:3889,350,0 0/1:76,80:156:99:.:.:2000,0,1996 1/1:0,162:162:99:1|1:873542_G_A:7230,497,0 0/1:64,62:126:99:0|1:873542_G_A:1656,0,1549 1/1:0,109:109:99:1|1:873542_G_A:4850,334,0 1/1:0,152:152:99:1|1:873542_G_A:6644,463,0 0/1:64,99:163:99:.:.:2656,0,1546 0/0:156,0:156:60 0/0:144,0:144:60 0/1:69,62:131:99:.:.:1645,0,1828 0/1:26,165:191:99:0|1:873542_G_A:6858,0,847 0/1:87,58:145:99:.:.:1424,0,2266 0/0:107,0:107:60 0/0:62,0:62:60 0/0:38,0:38:60 0/0:37,0:37:60 1/1:0,143:143:99:1|1:873542_G_A:6398,442,0 0/0:142,0:142:60 0/0:37,0:37:60 0/0:38,0:38:60 0/1:72,71:143:99:0|1:873542_G_A:1789,0,1854 0/1:73,64:137:99:0|1:873542_G_A:1596,0,1873 0/0:79,0:79:60 0/1:54,69:123:99:.:.:1810,0,1357 0/1:76,79:155:99:0|1:873542_G_A:1987,0,2008 0/1:52,56:108:99:.:.:1434,0,1365 0/1:70,79:149:99:0|1:873542_G_A:2086,0,1760 0/0:35,0:35:60 0/0:36,0:36:60 0/1:77,63:140:99:.:.:1583,0,1930 1/1:0,129:129:99:1|1:873542_G_A:5699,394,0 0/1:68,52:120:99:0|1:873542_G_A:1295,0,1790 0/0:123,0:123:60 1/1:0,105:105:99:1|1:873542_G_A:4740,325,0 0/0:41,0:41:60 0/1:64,57:121:99:0|1:873542_G_A:1422,0,1602 0/1:45,156:201:99:0|1:873542_G_A:6061,0,1556 0/0:107,0:107:60 1/1:0,96:96:99:1|1:873542_G_A:4197,289,0 0/1:75,81:156:99:0|1:873542_G_A:2157,0,1887 +chr1 873857 rs200657693 C G 874.77 PASS AC=7;AF=0.054;AN=130;AS_BaseQRankSum=0.000;AS_FS=0.851;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0550;AS_MQ=24.53;AS_MQRankSum=-3.900;AS_QD=0.94;AS_ReadPosRankSum=-0.100;AS_SOR=0.828;AS_VQSLOD=-5.1802;AS_culprit=AS_MQ;BaseQRankSum=0.079;DB;DP=4413;ExcessHet=0.7388;FS=0.851;InbreedingCoeff=-0.0550;MLEAC=6;MLEAF=0.046;MQ=33.43;MQRankSum=-3.895e+00;QD=0.94;ReadPosRankSum=-4.400e-02;SOR=0.828 GT:AD:DP:GQ:PL 0/0:37,0:37:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:119,0:119:60 0/0:34,0:34:60 0/0:99,0:99:60 0/0:37,0:37:60 0/1:115,19:134:99:149,0,3175 0/0:34,0:34:60 0/0:137,0:137:60 0/0:35,0:35:60 0/1:104,15:119:17:17,0,2931 0/0:41,0:41:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:61,0:61:60 0/0:38,0:38:60 0/0:145,0:145:60 0/0:114,0:114:60 0/1:107,22:129:99:182,0,2959 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:75,0:75:60 0/1:105,26:131:99:312,0,2985 0/0:110,0:110:60 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:156,0:156:60 0/0:144,0:144:60 0/0:43,0:43:60 0/0:40,0:40:60 0/0:42,0:42:60 0/0:41,0:41:60 0/0:62,0:62:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:132,0:132:60 0/0:37,0:37:60 0/0:38,0:38:60 0/0:109,0:109:60 0/0:89,0:89:60 0/0:37,0:37:60 0/0:118,0:118:60 0/0:40,0:40:60 0/0:45,0:45:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:34,0:34:60 0/1:107,20:127:99:189,0,2965 0/0:39,0:39:60 0/1:153,20:173:6:6,0,4170 0/0:34,0:34:60 0/0:41,0:41:60 0/1:101,16:117:86:86,0,2791 0/0:83,0:83:60 0/0:107,0:107:60 0/0:42,0:42:60 0/0:138,0:138:60 +chr1 873921 . C T 316.29 VQSRTrancheSNP99.00to99.90+ AC=3;AF=0.023;AN=130;AS_BaseQRankSum=1.300;AS_FS=52.348;AS_FilterStatus=VQSRTrancheSNP99.00to99.90+;AS_InbreedingCoeff=-0.0237;AS_MQ=33.06;AS_MQRankSum=-1.800;AS_QD=0.70;AS_ReadPosRankSum=0.700;AS_SOR=7.505;AS_VQSLOD=-31.6520;AS_culprit=AS_FS;BaseQRankSum=1.37;DP=3803;ExcessHet=0.1022;FS=52.348;InbreedingCoeff=-0.0237;MLEAC=3;MLEAF=0.023;MQ=35.04;MQRankSum=-1.751e+00;QD=0.70;ReadPosRankSum=0.784;SOR=7.505 GT:AD:DP:GQ:PL 0/0:37,0:37:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:68,0:68:60 0/0:34,0:34:60 0/0:99,0:99:60 0/0:37,0:37:60 0/1:150,20:170:99:134,0,4252 0/0:34,0:34:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:61,0:61:60 0/0:38,0:38:60 0/0:145,0:145:60 0/0:137,0:137:20 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:75,0:75:60 0/0:37,0:37:60 0/1:126,18:144:84:84,0,3713 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:156,0:156:60 0/0:144,0:144:60 0/0:43,0:43:60 0/0:40,0:40:60 0/0:42,0:42:60 0/0:41,0:41:60 0/0:62,0:62:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:132,0:132:60 0/0:37,0:37:60 0/0:38,0:38:60 0/1:120,17:137:99:139,0,3406 0/0:89,0:89:60 0/0:37,0:37:60 0/0:118,0:118:60 0/0:40,0:40:60 0/0:45,0:45:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:39,0:39:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:83,0:83:60 0/0:107,0:107:60 0/0:42,0:42:60 0/0:138,0:138:60 +chr1 874460 . C A 804.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.000;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=16.10;AS_ReadPosRankSum=1.500;AS_SOR=0.952;AS_VQSLOD=8.2162;AS_culprit=AS_MQ;BaseQRankSum=0.00;DP=2844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=1.60;SOR=0.952 GT:AD:DP:GQ:PL 0/0:37,0:37:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:68,0:68:60 0/0:34,0:34:60 0/0:99,0:99:60 0/0:37,0:37:60 0/0:170,0:170:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:61,0:61:60 0/0:38,0:38:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:75,0:75:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:156,0:156:60 0/1:22,28:50:99:823,0,614 0/0:43,0:43:60 0/0:40,0:40:60 0/0:42,0:42:60 0/0:41,0:41:60 0/0:62,0:62:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:89,0:89:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:40,0:40:60 0/0:45,0:45:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:39,0:39:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:23,0:23:60 0/0:31,0:31:50 0/0:16,0:16:30 0/0:35,0:35:60 +chr1 930939 rs9988021 G A 67117.32 PASS AC=129;AF=0.992;AN=130;AS_BaseQRankSum=0.500;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=34.24;AS_ReadPosRankSum=0.800;AS_SOR=6.051;AS_VQSLOD=8.8136;AS_culprit=AS_MQ;BaseQRankSum=0.501;DB;DP=1968;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=129;MLEAF=0.992;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=34.24;ReadPosRankSum=0.843;SOR=6.051 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,56:56:99:.:.:1870,168,0 1/1:0,42:42:99:.:.:1419,126,0 1/1:0,42:42:99:.:.:1400,126,0 1/1:0,48:48:99:.:.:1528,144,0 0/1:18,17:35:99:.:.:406,0,380 1/1:0,29:29:87:.:.:1007,87,0 1/1:0,30:30:90:.:.:986,90,0 1/1:0,31:31:93:.:.:1037,93,0 1/1:0,23:23:69:.:.:798,69,0 1/1:0,21:21:63:.:.:730,63,0 1/1:0,37:37:99:.:.:1251,111,0 1/1:0,23:23:69:.:.:777,69,0 1/1:0,16:16:48:.:.:546,48,0 1/1:0,32:32:96:.:.:1101,96,0 1/1:0,43:43:99:.:.:1474,129,0 1/1:0,35:35:99:.:.:1184,105,0 1/1:0,30:30:90:.:.:1021,90,0 1/1:0,28:28:84:.:.:973,84,0 1/1:0,25:25:75:.:.:848,75,0 1/1:0,35:35:99:.:.:1161,105,0 1/1:0,38:38:99:.:.:1259,113,0 1/1:0,25:25:75:.:.:849,75,0 1/1:0,27:27:81:.:.:898,81,0 1/1:0,28:28:84:.:.:973,84,0 1/1:0,39:39:99:.:.:1326,117,0 1/1:0,28:28:84:.:.:942,84,0 1/1:0,33:33:99:.:.:1145,99,0 1/1:0,32:32:96:.:.:1082,96,0 1/1:0,33:33:99:.:.:1087,99,0 1/1:0,33:33:99:.:.:1137,99,0 1/1:0,29:29:87:.:.:1008,87,0 1/1:0,17:17:51:.:.:580,51,0 1/1:0,20:20:60:.:.:674,60,0 1/1:0,32:32:96:.:.:1065,96,0 1/1:0,25:25:75:.:.:857,75,0 1/1:0,32:32:96:.:.:1071,96,0 1/1:0,23:23:69:.:.:788,69,0 1/1:0,23:23:69:.:.:769,69,0 1/1:0,43:43:99:.:.:1485,129,0 1/1:0,25:25:75:.:.:844,75,0 1/1:0,28:28:84:.:.:926,84,0 1/1:0,28:28:84:.:.:948,84,0 1/1:0,33:33:99:.:.:1145,99,0 1/1:0,43:43:99:.:.:1453,129,0 1/1:0,20:20:60:.:.:694,60,0 1/1:0,30:30:90:.:.:1002,90,0 1/1:0,38:38:99:.:.:1320,114,0 1/1:0,29:29:87:.:.:1006,87,0 1/1:0,17:17:51:.:.:590,51,0 1/1:0,31:31:93:.:.:1056,93,0 1/1:0,29:29:87:.:.:1006,87,0 1/1:0,36:36:99:.:.:1220,108,0 1/1:0,23:23:69:.:.:767,69,0 1/1:0,31:31:93:.:.:1057,93,0 1/1:0,31:31:93:.:.:1051,93,0 1/1:0,25:25:75:.:.:844,75,0 1/1:0,20:20:60:.:.:685,60,0 1/1:0,35:35:99:.:.:1170,105,0 1/1:0,27:27:81:.:.:929,81,0 1/1:0,28:28:84:.:.:973,84,0 1/1:0,29:29:87:.:.:988,87,0 1/1:0,26:26:78:1|1:930937_G_A:903,78,0 1/1:0,32:32:96:.:.:1092,96,0 1/1:0,25:25:75:.:.:859,75,0 1/1:0,20:20:60:.:.:695,60,0 +chr1 931131 rs60722469 C CCCCT 37940.21 VQSRTrancheINDEL95.00to96.00 AC=79;AF=0.608;AN=130;AS_BaseQRankSum=-0.200;AS_FS=19.073;AS_FilterStatus=VQSRTrancheINDEL95.00to96.00;AS_InbreedingCoeff=-0.0052;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=29.01;AS_ReadPosRankSum=-0.500;AS_SOR=2.445;AS_VQSLOD=-0.4942;AS_culprit=AS_FS;BaseQRankSum=-1.570e-01;DB;DP=2563;ExcessHet=2.0236;FS=19.073;InbreedingCoeff=-0.0052;MLEAC=78;MLEAF=0.600;MQ=59.99;MQRankSum=0.00;QD=29.01;ReadPosRankSum=-4.610e-01;SOR=2.423 GT:AD:DP:GQ:PGT:PID:PL 0/0:77,0:77:60 0/1:32,42:74:99:.:.:1059,0,906 0/1:13,49:62:99:0|1:931131_C_CCCCT:2016,0,224 0/1:15,32:47:99:0|1:931131_C_CCCCT:1367,0,378 0/1:14,8:22:99:.:.:293,0,698 1/1:0,18:18:52:.:.:706,52,0 0/0:34,0:34:60 0/0:36,0:36:60 0/1:7,15:22:99:.:.:698,0,285 1/1:0,21:21:62:.:.:890,62,0 0/1:18,11:29:99:.:.:358,0,893 0/1:8,6:14:99:.:.:201,0,424 0/1:6,9:15:99:.:.:319,0,282 0/1:18,13:31:99:.:.:501,0,836 1/1:0,23:23:68:.:.:970,68,0 0/1:17,11:28:99:.:.:398,0,699 1/1:0,19:19:57:.:.:843,57,0 0/1:7,13:20:99:.:.:492,0,245 0/0:34,0:34:60 0/1:8,8:16:99:.:.:306,0,370 1/1:1,12:13:10:.:.:510,10,0 0/1:6,10:16:99:.:.:471,0,249 0/1:12,8:20:99:.:.:315,0,591 0/1:7,9:16:99:.:.:345,0,358 1/1:0,32:32:98:.:.:1418,98,0 0/0:32,0:32:60 1/1:0,26:26:80:.:.:1171,80,0 1/1:0,30:30:95:.:.:1345,95,0 0/1:8,15:23:99:.:.:587,0,348 0/1:1,18:19:2:.:.:679,0,2 1/1:1,20:21:7:.:.:863,7,0 1/1:0,15:15:44:.:.:663,44,0 1/1:0,22:22:71:.:.:1046,71,0 0/0:47,0:47:60 0/1:9,7:16:99:.:.:249,0,398 0/1:13,12:25:99:.:.:426,0,650 0/1:18,11:29:99:.:.:443,0,687 1/1:1,18:19:11:.:.:720,11,0 0/1:17,15:32:99:.:.:496,0,796 0/1:8,12:20:99:.:.:447,0,307 1/1:1,15:16:22:.:.:697,22,0 0/1:10,7:17:99:.:.:252,0,505 1/1:0,25:25:80:.:.:1076,80,0 1/1:0,23:23:68:.:.:980,68,0 1/1:0,22:22:71:.:.:1024,71,0 1/1:0,12:12:38:.:.:536,38,0 0/1:18,12:30:99:.:.:468,0,672 0/0:43,0:43:60 0/0:32,0:32:60 1/1:1,29:30:47:.:.:1167,47,0 1/1:1,15:16:5:.:.:663,5,0 1/1:0,19:19:56:.:.:837,56,0 0/1:6,14:20:99:.:.:574,0,186 0/1:14,12:26:99:.:.:440,0,601 1/1:0,29:29:86:.:.:1247,86,0 0/1:12,5:17:99:.:.:201,0,646 1/1:1,21:22:23:.:.:788,23,0 0/1:12,11:23:99:.:.:436,0,487 0/0:37,0:37:60 0/0:35,0:35:60 1/1:0,13:13:38:.:.:552,38,0 0/1:8,15:23:99:.:.:559,0,290 0/1:11,9:22:99:.:.:281,0,582 1/1:0,23:23:74:.:.:1027,74,0 0/1:18,9:27:99:.:.:342,0,896 +chr1 931143 . T C 1125.29 VQSRTrancheSNP99.00to99.90+ AC=3;AF=0.023;AN=130;AS_BaseQRankSum=-2.700;AS_FS=342.391;AS_FilterStatus=VQSRTrancheSNP99.00to99.90+;AS_InbreedingCoeff=-0.0237;AS_MQ=59.70;AS_MQRankSum=0.000;AS_QD=5.18;AS_ReadPosRankSum=1.200;AS_SOR=8.051;AS_VQSLOD=-725.0645;AS_culprit=AS_FS;BaseQRankSum=-2.622e+00;DP=2198;ExcessHet=0.1022;FS=342.391;InbreedingCoeff=-0.0237;MLEAC=3;MLEAF=0.023;MQ=59.92;MQRankSum=0.00;QD=5.19;ReadPosRankSum=1.30;SOR=8.051 GT:AD:DP:GQ:PGT:PID:PL 0/0:77,0:77:60 0/1:53,30:83:99:0|1:931143_T_C:742,0,2079 0/1:63,11:74:99:0|1:931143_T_C:116,0,2575 0/1:46,14:60:99:0|1:931143_T_C:308,0,1791 0/0:30,0:30:40 0/0:27,0:27:30 0/0:29,0:29:50 0/0:36,0:36:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:23,0:23:50 0/0:21,0:21:40 0/0:44,0:44:60 0/0:27,0:27:40 0/0:35,0:35:60 0/0:26,0:26:50 0/0:29,0:29:40 0/0:27,0:27:60 0/0:26,0:26:60 0/0:19,0:19:20 0/0:20,0:20:30 0/0:37,0:37:60 0/0:22,0:22:50 0/0:38,0:38:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:41,0:41:60 0/0:32,0:32:60 0/0:26,0:26:40 0/0:28,0:28:50 0/0:22,0:22:40 0/0:36,0:36:60 0/0:36,0:36:50 0/0:20,0:20:30 0/0:38,0:38:60 0/0:49,0:49:60 0/0:29,0:29:40 0/0:44,0:44:60 0/0:30,0:30:50 0/0:23,0:23:40 0/0:28,0:28:50 0/0:34,0:34:60 0/0:31,0:31:60 0/0:29,0:29:60 0/0:20,0:20:40 0/0:39,0:39:60 0/0:43,0:43:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:25,0:25:40 0/0:25,0:25:50 0/0:23,0:23:50 0/0:33,0:33:60 0/0:37,0:37:50 0/0:24,0:24:50 0/0:34,0:34:50 0/0:41,0:41:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:23,0:23:30 0/0:36,0:36:50 0/0:27,0:27:50 0/0:32,0:32:50 0/0:35,0:35:60 +chr1 935662 rs199537431 C CA 1154.59 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-0.900;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=18.33;AS_ReadPosRankSum=0.700;AS_SOR=0.933;AS_VQSLOD=3.8398;AS_culprit=AS_QD;BaseQRankSum=-8.390e-01;DB;DP=3105;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=18.33;ReadPosRankSum=0.895;SOR=1.000 GT:AD:DP:GQ:PL 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935835 rs28419423 C G 6303.83 PASS AC=4;AF=0.031;AN=130;AS_BaseQRankSum=0.350;AS_FS=0.989;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0317;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=14.69;AS_ReadPosRankSum=0.650;AS_SOR=0.888;AS_VQSLOD=7.5347;AS_culprit=AS_MQ;BaseQRankSum=1.33;DB;DP=2885;ExcessHet=0.2060;FS=0.989;InbreedingCoeff=-0.0317;MLEAC=4;MLEAF=0.031;MQ=59.99;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=14.69;ReadPosRankSum=0.709;SOR=0.888 GT:AD:DP:GQ:PL 0/0:71,0:71:60 0/0:29,0:29:60 0/0:29,0:29:60 0/0:39,0:39:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:39,0:39:60 0/0:37,0:37:60 0/0:41,0:41:60 0/0:38,0:38:60 0/0:38,0:38:60 0/0:50,0:50:60 0/0:34,0:34:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:51,0:51:60 0/0:39,0:39:60 0/0:40,0:40:60 0/1:54,68:122:99:1802,0,1414 0/0:38,0:38:60 0/0:37,0:37:60 0/0:38,0:38:60 0/0:43,0:43:60 0/0:45,0:45:60 0/0:45,0:45:60 0/0:45,0:45:60 0/0:36,0:36:60 0/0:45,0:45:60 0/0:40,0:40:60 0/0:36,0:36:60 0/0:53,0:53:60 0/0:50,0:50:60 0/0:40,0:40:60 0/0:47,0:47:60 0/0:46,0:46:60 0/0:39,0:39:60 0/0:38,0:38:60 0/0:42,0:42:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:49,0:49:60 0/0:38,0:38:60 0/0:38,0:38:60 0/0:43,0:43:60 0/0:42,0:42:60 0/0:46,0:46:60 0/0:35,0:35:60 0/0:40,0:40:60 0/1:51,55:106:99:1512,0,1347 0/0:36,0:36:60 0/0:40,0:40:60 0/0:49,0:49:60 0/1:50,43:93:99:1189,0,1254 0/0:40,0:40:60 0/0:44,0:44:60 0/0:36,0:36:60 0/0:34,0:34:60 0/1:42,66:108:99:1850,0,1097 0/0:33,0:33:60 0/0:37,0:37:60 0/0:42,0:42:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:30,0:30:60 0/0:43,0:43:60 +chr1 939334 rs201596485 C T 148.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-1.400;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=6.77;AS_ReadPosRankSum=1.000;AS_SOR=0.446;AS_VQSLOD=8.9570;AS_culprit=AS_MQ;BaseQRankSum=-1.366e+00;DB;DP=2020;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=6.76;ReadPosRankSum=1.06;SOR=0.446 GT:AD:DP:GQ:PL 0/0:40,0:40:60 0/0:39,0:39:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:26,0:26:60 0/0:37,0:37:60 0/1:15,7:22:99:167,0,455 0/0:33,0:33:60 0/0:33,0:33:60 0/0:27,0:27:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:23,0:23:50 0/0:31,0:31:60 0/0:30,0:30:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:27,0:27:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:25,0:25:60 0/0:29,0:29:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:24,0:24:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:23,0:23:50 0/0:35,0:35:60 0/0:32,0:32:60 0/0:26,0:26:60 0/0:22,0:22:50 0/0:35,0:35:60 0/0:25,0:25:50 0/0:33,0:33:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:23,0:23:30 0/0:32,0:32:60 0/0:22,0:22:50 0/0:36,0:36:60 0/0:30,0:30:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:29,0:29:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:27,0:27:60 0/0:30,0:30:60 +chr1 939354 rs145967298 C T 2198.83 PASS AC=4;AF=0.031;AN=130;AS_BaseQRankSum=-0.400;AS_FS=1.470;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0317;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=14.96;AS_ReadPosRankSum=1.100;AS_SOR=0.864;AS_VQSLOD=6.9303;AS_culprit=AS_MQ;BaseQRankSum=-8.200e-02;DB;DP=2144;ExcessHet=0.2060;FS=1.470;InbreedingCoeff=-0.0317;MLEAC=4;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=14.96;ReadPosRankSum=1.62;SOR=0.864 GT:AD:DP:GQ:PL 0/0:40,0:40:60 0/0:39,0:39:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:26,0:26:60 0/0:37,0:37:60 0/0:26,0:26:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:27,0:27:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:30,0:30:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:27,0:27:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:29,0:29:60 0/0:33,0:33:60 0/1:21,22:43:99:551,0,581 0/0:29,0:29:60 0/0:32,0:32:60 0/0:21,0:21:50 0/0:37,0:37:60 0/0:33,0:33:60 0/0:39,0:39:60 0/0:35,0:35:60 0/1:13,17:30:99:491,0,337 0/0:37,0:37:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:27,0:27:40 0/0:33,0:33:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:33,0:33:60 0/0:40,0:40:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:31,0:31:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:35,0:35:60 0/0:36,0:36:60 0/1:18,22:40:99:584,0,460 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/1:12,22:34:99:622,0,295 0/0:30,0:30:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:30,0:30:60 +chr1 939484 rs141512630 CT C 176.59 VQSRTrancheINDEL95.00to96.00 AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.500;AS_FS=3.402;AS_FilterStatus=VQSRTrancheINDEL95.00to96.00;AS_InbreedingCoeff=-0.0078;AS_MQ=58.47;AS_MQRankSum=-1.700;AS_QD=4.02;AS_ReadPosRankSum=-1.500;AS_SOR=0.268;AS_VQSLOD=-0.6931;AS_culprit=AS_QD;BaseQRankSum=0.501;DB;DP=2255;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=59.62;MQRankSum=-1.680e+00;QD=4.01;ReadPosRankSum=-1.425e+00;SOR=0.268 GT:AD:DP:GQ:PL 0/0:40,0:40:60 0/0:39,0:39:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:93,0:93:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:37,0:37:60 0/0:37,0:37:60 0/0:26,0:26:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:27,0:27:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:30,0:30:60 0/0:32,0:32:50 0/0:42,0:42:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:38,0:38:60 0/0:29,0:29:60 0/0:46,0:46:60 0/0:42,0:42:60 0/0:29,0:29:60 0/0:26,0:26:50 0/0:31,0:31:60 0/0:42,0:42:60 0/0:33,0:33:60 0/0:39,0:39:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:25,0:25:60 0/0:33,0:33:60 0/0:40,0:40:60 0/0:21,0:21:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:29,0:29:60 0/1:33,11:44:99:195,0,1063 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:41,0:41:60 0/0:36,0:36:60 0/0:39,0:39:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:30,0:30:60 +chr1 943045 . C T 414.32 PASS AC=2;AF=0.015;AN=130;AS_BaseQRankSum=-0.150;AS_FS=1.189;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0165;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=9.20;AS_ReadPosRankSum=0.900;AS_SOR=0.410;AS_VQSLOD=5.3112;AS_culprit=AS_MQ;BaseQRankSum=0.717;DP=1439;ExcessHet=0.0338;FS=1.189;InbreedingCoeff=-0.0166;MLEAC=2;MLEAF=0.015;MQ=60.00;MQRankSum=0.00;QD=9.21;ReadPosRankSum=1.37;SOR=0.410 GT:AD:DP:GQ:PL 0/0:18,0:18:50 0/0:12,0:12:30 0/0:13,0:13:30 0/0:8,0:8:20 0/0:28,0:28:60 0/0:23,0:23:50 0/0:29,0:29:60 0/0:26,0:26:60 0/0:13,0:13:30 0/0:24,0:24:60 0/0:21,0:21:50 0/0:25,0:25:60 0/0:13,0:13:30 0/0:27,0:27:60 0/0:19,0:19:50 0/0:29,0:29:60 0/1:11,9:20:99:233,0,282 0/0:32,0:32:60 0/0:24,0:24:40 0/0:26,0:26:60 0/0:17,0:17:50 0/0:18,0:18:50 0/0:28,0:28:60 0/0:31,0:31:60 0/0:22,0:22:60 0/0:24,0:24:60 0/0:15,0:15:30 0/0:26,0:26:60 0/0:19,0:19:50 0/0:13,0:13:30 0/0:13,0:13:30 0/0:18,0:18:40 0/0:24,0:24:60 0/0:25,0:25:60 0/0:12,0:12:30 0/0:28,0:28:60 0/0:25,0:25:40 0/0:16,0:16:40 0/0:27,0:27:60 0/0:15,0:15:10 0/0:20,0:20:50 0/0:22,0:22:60 0/0:21,0:21:50 0/0:27,0:27:60 0/0:24,0:24:60 0/0:28,0:28:60 0/0:26,0:26:60 0/0:23,0:23:50 0/0:31,0:31:60 0/0:24,0:24:60 0/0:12,0:12:30 0/0:30,0:30:60 0/0:18,0:18:40 0/0:31,0:31:60 0/0:24,0:24:60 0/0:21,0:21:60 0/0:17,0:17:40 0/0:20,0:20:40 0/0:19,0:19:50 0/0:21,0:21:50 0/0:13,0:13:30 0/0:36,0:36:60 0/0:30,0:30:60 0/1:15,10:25:99:212,0,384 0/0:29,0:29:60 +chr1 943136 rs201043644 GA G 551.35 PASS AC=2;AF=0.015;AN=130;AS_BaseQRankSum=.;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=0.8072;AS_MQ=60.00;AS_MQRankSum=.;AS_QD=30.61;AS_ReadPosRankSum=.;AS_SOR=0.914;AS_VQSLOD=3.2508;AS_culprit=AS_FS;DB;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7976;MLEAC=2;MLEAF=0.015;MQ=60.00;POSITIVE_TRAIN_SITE;QD=30.63;SOR=0.914 GT:AD:DP:GQ:PL 0/0:24,0:24:50 0/0:27,0:27:60 0/0:18,0:18:50 0/0:28,0:28:60 1/1:0,18:18:54:588,54,0 0/0:15,0:15:30 0/0:15,0:15:30 0/0:22,0:22:50 0/0:12,0:12:20 0/0:15,0:15:30 0/0:13,0:13:30 0/0:11,0:11:20 0/0:14,0:14:30 0/0:13,0:13:30 0/0:12,0:12:20 0/0:19,0:19:40 0/0:9,0:9:20 0/0:15,0:15:30 0/0:18,0:18:40 0/0:12,0:12:30 0/0:11,0:11:20 0/0:12,0:12:30 0/0:18,0:18:40 0/0:18,0:18:30 0/0:17,0:17:40 0/0:11,0:11:20 0/0:18,0:18:40 0/0:17,0:17:40 0/0:14,0:14:30 0/0:8,0:8:20 0/0:10,0:10:20 0/0:18,0:18:40 0/0:10,0:10:20 0/0:13,0:13:30 0/0:14,0:14:30 0/0:22,0:22:50 0/0:13,0:13:30 0/0:13,0:13:30 0/0:10,0:10:20 0/0:8,0:8:10 0/0:17,0:17:40 0/0:12,0:12:20 0/0:15,0:15:30 0/0:13,0:13:30 0/0:18,0:18:40 0/0:14,0:14:30 0/0:17,0:17:10 0/0:9,0:9:20 0/0:13,0:13:30 0/0:17,0:17:40 0/0:11,0:11:20 0/0:20,0:20:40 0/0:12,0:12:20 0/0:14,0:14:30 0/0:14,0:14:40 0/0:10,0:10:20 0/0:11,0:11:20 0/0:13,0:13:30 0/0:15,0:15:30 0/0:13,0:13:30 0/0:14,0:14:30 0/0:12,0:12:20 0/0:19,0:19:40 0/0:8,0:8:10 0/0:21,0:21:50 +chr1 943365 rs72902602 A C 661.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.200;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=10.68;AS_ReadPosRankSum=0.400;AS_SOR=0.811;AS_VQSLOD=9.5103;AS_culprit=AS_MQ;BaseQRankSum=0.245;DB;DP=2151;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.467;SOR=0.811 GT:AD:DP:GQ:PL 0/0:30,0:30:60 0/0:16,0:16:30 0/0:25,0:25:50 0/0:22,0:22:50 0/1:28,34:62:99:680,0,527 0/0:36,0:36:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:38,0:38:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:33,0:33:60 +chr1 943429 rs191952374 C T 1116.29 PASS AC=2;AF=0.015;AN=130;AS_BaseQRankSum=1.700;AS_FS=7.671;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0156;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=15.08;AS_ReadPosRankSum=0.600;AS_SOR=2.124;AS_VQSLOD=5.2137;AS_culprit=AS_MQ;BaseQRankSum=2.01;DB;DP=2074;ExcessHet=0.0338;FS=7.671;InbreedingCoeff=-0.0156;MLEAC=2;MLEAF=0.015;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=15.08;ReadPosRankSum=1.48;SOR=2.124 GT:AD:DP:GQ:PL 0/0:18,0:18:50 0/0:16,0:16:40 0/0:16,0:16:40 0/0:15,0:15:40 0/0:22,0:22:50 0/0:36,0:36:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:31,0:31:60 0/1:18,16:34:99:454,0,483 0/0:30,0:30:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:22,0:22:40 0/0:33,0:33:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:32,0:32:60 0/1:16,24:40:99:693,0,395 0/0:34,0:34:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:33,0:33:60 +chr1 943937 rs7523549 C T 984.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.800;AS_FS=6.350;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=14.28;AS_ReadPosRankSum=-1.800;AS_SOR=1.118;AS_VQSLOD=5.2667;AS_culprit=AS_MQ;BaseQRankSum=0.837;DB;DP=2269;ExcessHet=0.0000;FS=6.350;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=14.27;ReadPosRankSum=-1.755e+00;SOR=1.118 GT:AD:DP:GQ:PL 0/0:30,0:30:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:43,0:43:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:39,0:39:60 0/0:40,0:40:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:37,0:37:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:40,0:40:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/1:33,36:69:99:1003,0,879 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:38,0:38:60 +chr1 944795 . C T 296.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-1.800;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=1.500;AS_QD=12.38;AS_ReadPosRankSum=0.300;AS_SOR=0.317;AS_VQSLOD=-0.3892;AS_culprit=AS_MQRankSum;BaseQRankSum=-1.762e+00;DP=1918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=58.66;MQRankSum=1.51;QD=12.36;ReadPosRankSum=0.318;SOR=0.317 GT:AD:DP:GQ:PL 0/0:31,0:31:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:28,0:28:60 0/0:13,0:13:30 0/0:32,0:32:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:28,0:28:60 0/0:32,0:32:60 0/1:12,12:24:99:315,0,342 0/0:26,0:26:50 0/0:24,0:24:50 0/0:16,0:16:30 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:27,0:27:60 0/0:28,0:28:60 0/0:28,0:28:60 0/0:30,0:30:60 0/0:19,0:19:30 0/0:33,0:33:60 0/0:31,0:31:60 0/0:26,0:26:60 0/0:20,0:20:40 0/0:38,0:38:60 0/0:36,0:36:60 0/0:30,0:30:60 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C . . END=207668 GT:DP:GQ 0/0:5:0 +chr1 347969 . G . . END=535988 GT:DP:GQ 0/0:0:0 +chr1 585989 . G . . END=792416 GT:DP:GQ 0/0:0:0 +chr1 792417 . C CA, 30.44 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.372848;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792417_C_CA:40,3,0,45,3,40:792417:0,0,1,0 +chr1 792418 . T . . END=792434 GT:DP:GQ 0/0:1:0 +chr1 792435 . T C, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.913193;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792417_C_CA:40,3,0,45,3,40:792417:0,0,1,0 +chr1 792436 . C . . END=792472 GT:DP:GQ 0/0:1:0 +chr1 792473 . C T, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.882212;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792474 . G . . END=792490 GT:DP:GQ 0/0:1:0 +chr1 792491 . G GA, 30.44 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.322956;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792492 . T . . END=792509 GT:DP:GQ 0/0:1:0 +chr1 792510 . T C, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.761834;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792511 . C . . END=792532 GT:DP:GQ 0/0:1:0 +chr1 792533 . A G, 30.48 . ASSEMBLED_HAPS=4;AS_QUALapprox=|40|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|4.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=40;RAW_GT_COUNT=0,0,1;RAW_MQandDP=4,1;TREE_SCORE=0.88142;VarDP=1 GT:AD:DP:GQ:PGT:PID:PL:PS:SB 1|1:0,1,0:1:3:0|1:792473_C_T:40,3,0,45,3,40:792473:0,0,1,0 +chr1 792534 . C . . END=853826 GT:DP:GQ 0/0:4:0 +chr1 853827 . CGCCGTGTGGTAAACTGATGAACCCCGACCCTGATCAACATGAGATGACT C, 65.60 . 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ASSEMBLED_HAPS=2;AS_QUALapprox=|45|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|676.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|0|0;DP=1;FILTERED_HAPS=0;QUALapprox=45;RAW_GT_COUNT=0,0,1;RAW_MQandDP=676,1;TREE_SCORE=0.968235;VarDP=1 GT:AD:DP:GQ:PL:SB 1/1:0,1,0:1:3:45,3,0,45,3,45:0,0,0,1 +chr1 864084 . A . . END=864445 GT:DP:GQ 0/0:4:0 +chr1 864446 . C . . END=864455 GT:DP:GQ 0/0:7:20 +chr1 864456 . T . . END=864514 GT:DP:GQ 0/0:6:0 +chr1 864515 . G . . END=864524 GT:DP:GQ 0/0:7:20 +chr1 864525 . A . . END=864528 GT:DP:GQ 0/0:7:0 +chr1 864529 . C . . END=864550 GT:DP:GQ 0/0:8:20 +chr1 864551 . A . . END=864551 GT:DP:GQ 0/0:7:0 +chr1 864552 . T . . END=864575 GT:DP:GQ 0/0:7:20 +chr1 864576 . C . . END=864576 GT:DP:GQ 0/0:7:0 +chr1 864577 . T . . END=864607 GT:DP:GQ 0/0:7:20 +chr1 864608 . C . . END=864609 GT:DP:GQ 0/0:7:0 +chr1 864610 . T . . END=864626 GT:DP:GQ 0/0:7:20 +chr1 864627 . T C, 80.02 . ASSEMBLED_HAPS=2;AS_QUALapprox=|94|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|11044.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|3,4|0,0;AS_VarDP=0|7|0;DP=7;FILTERED_HAPS=0;QUALapprox=94;RAW_GT_COUNT=0,0,1;RAW_MQandDP=11044,7;TREE_SCORE=0.997055;VarDP=7 GT:AD:DP:GQ:PL:SB 1/1:0,7,0:7:21:94,21,0,315,21,94:0,0,3,4 +chr1 864628 . T . . END=864658 GT:DP:GQ 0/0:7:20 +chr1 864659 . A . . END=886481 GT:DP:GQ 0/0:4:0 +chr1 886482 . CACAGCAGCTGTGCTGTGTT C, 67.60 . ASSEMBLED_HAPS=54;AS_QUALapprox=|75|0;AS_RAW_BaseQRankSum=|0.0,1|NaN;AS_RAW_MQ=3600.00|10009.00|0.00;AS_RAW_MQRankSum=|-0.4,1|NaN;AS_RAW_ReadPosRankSum=|-1.2,1|NaN;AS_SB_TABLE=1,0|3,0|0,0;AS_VarDP=1|3|0;BaseQRankSum=0;DP=4;FILTERED_HAPS=43;MQRankSum=-0.319;QUALapprox=75;RAW_GT_COUNT=0,1,0;RAW_MQandDP=13609,4;ReadPosRankSum=-1.15;TREE_SCORE=0.94488;VarDP=4 GT:AD:DP:GQ:PL:SB 0/1:1,3,0:4:33:75,0,33,112,42,117:1,0,3,0 +chr1 886502 . A . . END=886506 GT:DP:GQ 0/0:4:0 +chr1 886507 . A G, 73.13 . ASSEMBLED_HAPS=54;AS_QUALapprox=|87|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|13609.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|4,0|0,0;AS_VarDP=0|4|0;DP=4;FILTERED_HAPS=43;QUALapprox=87;RAW_GT_COUNT=0,0,1;RAW_MQandDP=13609,4;TREE_SCORE=0.998201;VarDP=4 GT:AD:DP:GQ:PL:SB 1/1:0,4,0:4:12:87,12,0,166,12,87:0,0,4,0 +chr1 886508 . A . . END=886567 GT:DP:GQ 0/0:4:0 +chr1 886568 . T C, 70.83 . ASSEMBLED_HAPS=8;AS_QUALapprox=|84|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|10800.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|3,0|0,0;AS_VarDP=0|3|0;DP=3;FILTERED_HAPS=4;QUALapprox=84;RAW_GT_COUNT=0,0,1;RAW_MQandDP=10800,3;TREE_SCORE=0.998735;VarDP=3 GT:AD:DP:GQ:PL:SB 1/1:0,3,0:3:9:84,9,0,135,9,84:0,0,3,0 +chr1 886569 . G . . END=910957 GT:DP:GQ 0/0:2:0 +chr1 910958 . A G, 69.31 . ASSEMBLED_HAPS=29;AS_QUALapprox=|81|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|7200.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|0,0|0,0;AS_VarDP=0|2|0;DP=2;FILTERED_HAPS=14;QUALapprox=81;RAW_GT_COUNT=0,0,1;RAW_MQandDP=7200,2;TREE_SCORE=0.997784;VarDP=2 GT:AD:DP:GQ:PL:SB 1/1:0,2,0:2:6:81,6,0,90,6,81:0,0,0,2 +chr1 910959 . C . . END=911017 GT:DP:GQ 0/0:3:0 +chr1 911018 . G A, 73.13 . ASSEMBLED_HAPS=53;AS_QUALapprox=|87|0;AS_RAW_BaseQRankSum=||;AS_RAW_MQ=0.00|14400.00|0.00;AS_RAW_MQRankSum=||;AS_RAW_ReadPosRankSum=||;AS_SB_TABLE=0,0|1,3|0,0;AS_VarDP=0|4|0;DP=4;FILTERED_HAPS=18;QUALapprox=87;RAW_GT_COUNT=0,0,1;RAW_MQandDP=14400,4;TREE_SCORE=0.998602;VarDP=4 GT:AD:DP:GQ:PL:SB 1/1:0,4,0:4:12:87,12,0,180,12,87:0,0,1,3 +chr1 911019 . C . . END=911084 GT:DP:GQ 0/0:5:0 +chr1 911085 . C T,CTG, 85.05 . 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G T 121.70 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-0.200;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0120;AS_MQ=26.33;AS_MQRankSum=-0.500;AS_QD=3.94;AS_ReadPosRankSum=0.400;AS_SOR=0.601;AS_VQSLOD=-3.2178;AS_culprit=AS_MQ;BaseQRankSum=-1.560e-01;DP=2012;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0124;MLEAC=1;MLEAF=7.692e-03;MQ=27.51;MQRankSum=-4.110e-01;QD=3.93;ReadPosRankSum=0.452;SOR=0.601 GT:AD:DP:GQ:PL 0/0:183,0:183:60 0/0:257,0:257:60 0/0:253,0:253:60 0/0:213,0:213:60 0/0:17,0:17:40 0/0:14,0:14:30 0/0:23,0:23:60 0/0:25,0:25:60 0/0:10,0:10:20 0/0:7,0:7:10 0/0:21,0:21:60 0/0:23,0:23:60 0/0:13,0:13:30 0/0:15,0:15:30 0/0:18,0:18:40 0/0:15,0:15:40 0/0:23,0:23:60 0/1:23,8:31:99:140,0,556 0/0:15,0:15:30 0/0:11,0:11:30 0/0:35,0:35:60 0/0:23,0:23:50 0/0:15,0:15:30 0/0:26,0:26:60 0/0:30,0:30:60 0/0:29,0:29:60 0/0:29,0:29:60 0/0:15,0:15:30 0/0:14,0:14:30 0/0:20,0:20:50 0/0:9,0:9:20 0/0:14,0:14:30 0/0:12,0:12:30 0/0:29,0:29:60 0/0:4,0:4:10 0/0:6,0:6:10 0/0:22,0:22:40 0/0:33,0:33:60 0/0:9,0:9:20 0/0:14,0:14:30 0/0:29,0:29:60 0/0:15,0:15:30 0/0:5,0:5:10 0/0:11,0:11:30 0/0:26,0:26:60 0/0:15,0:15:30 0/0:8,0:8:20 0/0:10,0:10:20 0/0:15,0:15:30 0/0:23,0:23:50 0/0:23,0:23:50 0/0:15,0:15:40 0/0:30,0:30:60 0/0:5,0:5:10 0/0:20,0:20:50 0/0:13,0:13:30 0/0:19,0:19:40 0/0:18,0:18:40 0/0:19,0:19:20 0/0:15,0:15:30 0/0:18,0:18:50 0/0:7,0:7:20 0/0:33,0:33:60 0/0:14,0:14:30 0/0:31,0:31:60 +chr1 187471 . A C 60.64 VQSRTrancheSNP99.90to100.00+ AC=2;AF=0.015;AN=130;AS_BaseQRankSum=3.100;AS_FS=100.350;AS_FilterStatus=VQSRTrancheSNP99.90to100.00+;AS_InbreedingCoeff=-0.0159;AS_MQ=28.18;AS_MQRankSum=-3.400;AS_QD=0.13;AS_ReadPosRankSum=-5.650;AS_SOR=6.803;AS_VQSLOD=-93.9689;AS_culprit=AS_FS;BaseQRankSum=3.47;DP=2943;ExcessHet=0.0338;FS=100.350;InbreedingCoeff=-0.0159;MLEAC=1;MLEAF=7.692e-03;MQ=32.38;MQRankSum=-3.205e+00;QD=0.12;ReadPosRankSum=-4.542e+00;SOR=6.803 GT:AD:DP:GQ:PL 0/0:242,0:242:10 0/1:197,31:228:77:77,0,8939 0/1:229,29:258:12:12,0,8067 0/0:283,0:283:60 0/0:27,0:27:60 0/0:26,0:26:60 0/0:35,0:35:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:40,0:40:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:27,0:27:60 0/0:28,0:28:60 0/0:29,0:29:60 0/0:27,0:27:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:37,0:37:60 0/0:29,0:29:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:28,0:28:60 0/0:26,0:26:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:49,0:49:60 0/0:29,0:29:60 0/0:27,0:27:60 0/0:28,0:28:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:31,0:31:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:28,0:28:60 0/0:29,0:29:60 0/0:51,0:51:60 0/0:30,0:30:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:58,0:58:60 0/0:27,0:27:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:28,0:28:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:28,0:28:60 0/0:28,0:28:60 0/0:31,0:31:60 0/0:28,0:28:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:28,0:28:60 0/0:28,0:28:60 0/0:31,0:31:60 0/0:30,0:30:60 0/0:42,0:42:60 0/0:27,0:27:60 0/0:29,0:29:60 +chr1 187485 . G A 97359.39 ExcessHet AC=74;AF=0.569;AN=130;AS_BaseQRankSum=0.000;AS_FS=4.039;AS_InbreedingCoeff=-0.7568;AS_MQ=29.24;AS_MQRankSum=-0.400;AS_QD=17.72;AS_ReadPosRankSum=0.050;AS_SOR=0.989;BaseQRankSum=0.058;DP=5503;ExcessHet=100.7690;FS=4.039;InbreedingCoeff=-0.7568;MLEAC=74;MLEAF=0.569;MQ=29.46;MQRankSum=-3.180e-01;QD=17.72;ReadPosRankSum=0.110;SOR=0.991 GT:AD:DP:GQ:PGT:PID:PL 0/1:33,235:271:99:.:.:7017,0,616 1/1:9,236:245:99:.:.:7627,450,0 0/1:131,138:269:99:.:.:2911,0,3374 0/1:93,207:300:99:.:.:6270,0,1857 0/1:18,53:71:99:0|1:187485_G_A:1410,0,246 0/1:18,41:59:99:0|1:187485_G_A:1145,0,299 0/1:44,46:90:99:.:.:1011,0,919 0/1:26,20:46:99:0|1:187485_G_A:598,0,582 0/1:53,49:102:99:0|1:187485_G_A:1184,0,1070 0/1:28,63:91:99:0|1:187485_G_A:2155,0,486 0/1:19,37:56:99:0|1:187485_G_A:1017,0,356 0/1:12,75:87:51:.:.:2110,0,51 0/1:32,49:81:99:0|1:187485_G_A:1489,0,616 0/1:55,35:90:99:.:.:676,0,1231 0/1:25,29:54:99:.:.:666,0,511 1/1:0,27:27:81:.:.:751,81,0 0/1:36,26:62:99:.:.:519,0,810 0/1:35,55:90:99:0|1:187485_G_A:1513,0,681 0/1:26,48:74:99:0|1:187485_G_A:1506,0,471 0/1:24,50:74:99:0|1:187485_G_A:1421,0,411 0/1:23,27:50:99:0|1:187485_G_A:822,0,471 0/1:16,63:79:99:.:.:1442,0,168 0/1:22,61:83:99:0|1:187485_G_A:2141,0,345 0/1:72,15:87:99:.:.:162,0,1680 0/1:38,34:72:99:.:.:736,0,816 0/1:37,41:78:99:0|1:187485_G_A:1062,0,750 0/1:22,70:92:99:0|1:187485_G_A:1904,0,324 0/1:26,77:103:99:0|1:187485_G_A:2415,0,387 1/1:0,31:31:93:.:.:841,93,0 0/1:25,34:59:99:.:.:710,0,515 1/1:0,51:51:99:1|1:187485_G_A:1640,153,0 0/1:43,39:82:99:.:.:806,0,923 1/1:4,57:61:84:.:.:1436,84,0 0/1:46,46:92:99:.:.:958,0,977 0/1:24,43:67:99:0|1:187485_G_A:1301,0,460 0/1:19,20:39:99:.:.:452,0,396 0/1:42,36:78:99:.:.:765,0,870 0/1:38,38:76:99:.:.:802,0,786 0/1:18,58:76:99:0|1:187485_G_A:1530,0,265 0/1:52,25:77:99:.:.:537,0,1213 0/1:39,25:64:99:0|1:187485_G_A:794,0,794 0/1:28,110:138:99:0|1:187485_G_A:3079,0,354 0/1:40,18:58:99:.:.:320,0,904 0/1:17,52:69:99:0|1:187485_G_A:1338,0,262 0/1:10,45:55:93:.:.:1053,0,93 0/1:34,41:75:99:0|1:187485_G_A:1180,0,705 1/1:0,39:39:99:1|1:187485_G_A:1489,117,0 1/1:0,33:33:99:.:.:861,99,0 0/1:13,61:74:99:0|1:187485_G_A:1602,0,131 0/1:25,46:71:99:0|1:187485_G_A:1203,0,459 0/1:26,43:69:99:0|1:187485_G_A:1472,0,494 1/1:0,89:89:99:.:.:2606,267,0 0/1:42,51:93:99:0|1:187485_G_A:1308,0,866 0/1:14,68:82:99:.:.:1692,0,134 0/1:40,48:88:99:.:.:1016,0,787 0/1:27,17:44:99:.:.:321,0,606 0/1:18,63:81:99:0|1:187485_G_A:1650,0,240 0/1:33,36:69:99:.:.:977,0,673 0/1:20,41:61:99:.:.:1034,0,336 0/1:25,22:47:99:.:.:458,0,529 0/1:24,37:61:99:.:.:807,0,473 1/1:0,39:39:99:.:.:1071,117,0 0/1:55,93:148:99:.:.:2652,0,1049 0/1:37,44:81:99:0|1:187485_G_A:1163,0,735 0/1:65,32:97:99:.:.:550,0,1508 +chr1 187499 . A G 296.62 VQSRTrancheSNP99.90to100.00+ AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=1.700;AS_FS=93.945;AS_FilterStatus=VQSRTrancheSNP99.90to100.00+;AS_InbreedingCoeff=-0.0078;AS_MQ=28.65;AS_MQRankSum=0.400;AS_QD=1.03;AS_ReadPosRankSum=1.300;AS_SOR=2.365;AS_VQSLOD=-71.4761;AS_culprit=AS_FS;BaseQRankSum=1.75;DP=2977;ExcessHet=0.0000;FS=93.945;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=28.19;MQRankSum=0.454;QD=1.03;ReadPosRankSum=1.37;SOR=2.365 GT:AD:DP:GQ:PL 0/1:255,32:287:99:315,0,10200 0/0:193,0:193:60 0/0:178,0:178:60 0/0:203,0:203:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:38,0:38:60 0/0:39,0:39:60 0/0:36,0:36:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:38,0:38:60 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0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:28,0:28:60 0/1:35,22:57:99:500,0,830 0/0:29,0:29:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:40,0:40:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:31,0:31:60 0/1:32,35:67:99:770,0,722 0/0:32,0:32:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:31,0:31:60 0/0:30,0:30:60 0/1:27,19:46:99:413,0,646 0/0:32,0:32:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:33,0:33:60 0/1:36,25:61:99:520,0,820 0/0:28,0:28:60 0/0:30,0:30:60 0/0:41,0:41:60 0/0:34,0:34:60 0/0:39,0:39:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:29,0:29:60 0/0:31,0:31:60 +chr1 873542 rs6594027 G A 360292.25 PASS AC=123;AF=0.946;AN=130;AS_BaseQRankSum=2.600;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0569;AS_MQ=42.71;AS_MQRankSum=0.850;AS_QD=30.67;AS_ReadPosRankSum=-1.300;AS_SOR=0.875;AS_VQSLOD=1.9433;AS_culprit=AS_MQRankSum;BaseQRankSum=2.68;DB;DP=9543;ExcessHet=0.7388;FS=0.000;InbreedingCoeff=-0.0569;MLEAC=123;MLEAF=0.946;MQ=42.59;MQRankSum=1.08;NEGATIVE_TRAIN_SITE;POSITIVE_TRAIN_SITE;QD=26.61;ReadPosRankSum=-1.219e+00;SOR=0.875 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,304:304:99:.:.:11825,914,0 1/1:0,295:295:99:1|1:873542_G_A:13243,900,0 1/1:0,229:229:99:1|1:873542_G_A:9061,695,0 1/1:0,252:252:99:1|1:873542_G_A:11407,771,0 1/1:0,164:164:99:1|1:873542_G_A:5883,496,0 1/1:0,132:132:99:1|1:873542_G_A:4996,397,0 0/1:39,162:201:99:0|1:873542_G_A:6706,0,1362 1/1:0,128:128:99:.:.:4832,394,0 1/1:0,145:145:99:1|1:873542_G_A:6515,445,0 1/1:0,121:121:99:.:.:4865,370,0 1/1:0,123:123:99:1|1:873542_G_A:4718,373,0 1/1:0,160:160:99:1|1:873542_G_A:7031,485,0 1/1:0,125:125:99:.:.:4931,376,0 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1/1:0,145:145:99:.:.:4595,436,0 1/1:0,139:139:99:1|1:873542_G_A:6251,427,0 1/1:0,126:126:99:.:.:4231,379,0 1/1:0,135:135:99:.:.:4336,406,0 1/1:0,133:133:99:.:.:4297,400,0 1/1:0,129:129:99:1|1:873542_G_A:4977,394,0 1/1:0,133:133:99:1|1:873542_G_A:5071,403,0 0/1:36,138:174:99:.:.:4024,0,493 1/1:1,117:118:99:.:.:4595,355,0 1/1:0,150:150:99:1|1:873542_G_A:5788,454,0 1/1:0,105:105:99:.:.:4084,322,0 1/1:0,144:144:99:1|1:873542_G_A:5583,436,0 1/1:0,139:139:99:.:.:4531,418,0 1/1:0,128:128:99:.:.:4156,385,0 1/1:0,136:136:99:.:.:5162,424,0 1/1:0,125:125:99:1|1:873542_G_A:5604,385,0 1/1:0,112:112:99:1|1:873542_G_A:4284,343,0 1/1:0,139:139:99:.:.:4576,418,0 1/1:0,105:105:99:1|1:873542_G_A:4696,322,0 1/1:0,97:97:99:.:.:3085,291,0 1/1:1,110:111:99:1|1:873542_G_A:4202,334,0 0/1:47,140:187:99:0|1:873542_G_A:5837,0,1644 1/1:0,136:136:99:.:.:4302,409,0 1/1:0,92:92:99:1|1:873542_G_A:4198,289,0 1/1:0,148:148:99:1|1:873542_G_A:5733,451,0 +chr1 873548 rs11240780 C T 180143.50 PASS AC=63;AF=0.485;AN=130;AS_BaseQRankSum=0.000;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0779;AS_MQ=45.20;AS_MQRankSum=0.100;AS_QD=23.59;AS_ReadPosRankSum=-0.200;AS_SOR=0.663;AS_VQSLOD=2.8579;AS_culprit=AS_MQ;BaseQRankSum=0.059;DB;DP=8868;ExcessHet=4.2585;FS=0.000;InbreedingCoeff=-0.0779;MLEAC=63;MLEAF=0.485;MQ=44.97;MQRankSum=0.142;POSITIVE_TRAIN_SITE;QD=23.59;ReadPosRankSum=-1.070e-01;SOR=0.663 GT:AD:DP:GQ:PGT:PID:PL 0/1:155,150:305:99:.:.:4084,0,4165 1/1:0,293:293:99:1|1:873542_G_A:13081,888,0 0/1:115,124:239:99:0|1:873542_G_A:3315,0,3009 1/1:0,259:259:99:1|1:873542_G_A:11566,786,0 0/1:77,86:163:99:0|1:873542_G_A:1719,0,1472 0/1:82,65:147:99:0|1:873542_G_A:1554,0,2136 0/1:38,181:219:99:0|1:873542_G_A:7109,0,1269 0/1:70,66:136:99:.:.:1675,0,1719 1/1:0,150:150:99:1|1:873542_G_A:6630,460,0 0/1:53,78:131:99:.:.:2008,0,1263 0/1:74,57:131:99:0|1:873542_G_A:1524,0,1882 1/1:0,152:152:99:1|1:873542_G_A:6839,467,0 0/1:59,70:129:99:.:.:1778,0,1540 0/1:84,74:158:99:.:.:1734,0,2852 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0/1:72,71:143:99:0|1:873542_G_A:1789,0,1854 0/1:73,64:137:99:0|1:873542_G_A:1596,0,1873 0/0:79,0:79:60 0/1:54,69:123:99:.:.:1810,0,1357 0/1:76,79:155:99:0|1:873542_G_A:1987,0,2008 0/1:52,56:108:99:.:.:1434,0,1365 0/1:70,79:149:99:0|1:873542_G_A:2086,0,1760 0/0:35,0:35:60 0/0:36,0:36:60 0/1:77,63:140:99:.:.:1583,0,1930 1/1:0,129:129:99:1|1:873542_G_A:5699,394,0 0/1:68,52:120:99:0|1:873542_G_A:1295,0,1790 0/0:123,0:123:60 1/1:0,105:105:99:1|1:873542_G_A:4740,325,0 0/0:41,0:41:60 0/1:64,57:121:99:0|1:873542_G_A:1422,0,1602 0/1:45,156:201:99:0|1:873542_G_A:6061,0,1556 0/0:107,0:107:60 1/1:0,96:96:99:1|1:873542_G_A:4197,289,0 0/1:75,81:156:99:0|1:873542_G_A:2157,0,1887 +chr1 873857 rs200657693 C G 874.77 PASS AC=7;AF=0.054;AN=130;AS_BaseQRankSum=0.000;AS_FS=0.851;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0550;AS_MQ=24.53;AS_MQRankSum=-3.900;AS_QD=0.94;AS_ReadPosRankSum=-0.100;AS_SOR=0.828;AS_VQSLOD=-5.3836;AS_culprit=AS_MQ;BaseQRankSum=0.079;DB;DP=4413;ExcessHet=0.7388;FS=0.851;InbreedingCoeff=-0.0550;MLEAC=6;MLEAF=0.046;MQ=33.43;MQRankSum=-3.895e+00;QD=0.94;ReadPosRankSum=-4.400e-02;SOR=0.828 GT:AD:DP:GQ:PL 0/0:37,0:37:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:119,0:119:60 0/0:34,0:34:60 0/0:99,0:99:60 0/0:37,0:37:60 0/1:115,19:134:99:149,0,3175 0/0:34,0:34:60 0/0:137,0:137:60 0/0:35,0:35:60 0/1:104,15:119:17:17,0,2931 0/0:41,0:41:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:61,0:61:60 0/0:38,0:38:60 0/0:145,0:145:60 0/0:114,0:114:60 0/1:107,22:129:99:182,0,2959 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:75,0:75:60 0/1:105,26:131:99:312,0,2985 0/0:110,0:110:60 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:156,0:156:60 0/0:144,0:144:60 0/0:43,0:43:60 0/0:40,0:40:60 0/0:42,0:42:60 0/0:41,0:41:60 0/0:62,0:62:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:132,0:132:60 0/0:37,0:37:60 0/0:38,0:38:60 0/0:109,0:109:60 0/0:89,0:89:60 0/0:37,0:37:60 0/0:118,0:118:60 0/0:40,0:40:60 0/0:45,0:45:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:34,0:34:60 0/1:107,20:127:99:189,0,2965 0/0:39,0:39:60 0/1:153,20:173:6:6,0,4170 0/0:34,0:34:60 0/0:41,0:41:60 0/1:101,16:117:86:86,0,2791 0/0:83,0:83:60 0/0:107,0:107:60 0/0:42,0:42:60 0/0:138,0:138:60 +chr1 873921 . C T 316.29 VQSRTrancheSNP99.90to100.00+ AC=3;AF=0.023;AN=130;AS_BaseQRankSum=1.300;AS_FS=52.348;AS_FilterStatus=VQSRTrancheSNP99.90to100.00+;AS_InbreedingCoeff=-0.0237;AS_MQ=33.06;AS_MQRankSum=-1.800;AS_QD=0.70;AS_ReadPosRankSum=0.700;AS_SOR=7.505;AS_VQSLOD=-31.1828;AS_culprit=AS_FS;BaseQRankSum=1.37;DP=3803;ExcessHet=0.1022;FS=52.348;InbreedingCoeff=-0.0237;MLEAC=3;MLEAF=0.023;MQ=35.04;MQRankSum=-1.751e+00;QD=0.70;ReadPosRankSum=0.784;SOR=7.505 GT:AD:DP:GQ:PL 0/0:37,0:37:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:68,0:68:60 0/0:34,0:34:60 0/0:99,0:99:60 0/0:37,0:37:60 0/1:150,20:170:99:134,0,4252 0/0:34,0:34:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:61,0:61:60 0/0:38,0:38:60 0/0:145,0:145:60 0/0:137,0:137:20 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:75,0:75:60 0/0:37,0:37:60 0/1:126,18:144:84:84,0,3713 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:156,0:156:60 0/0:144,0:144:60 0/0:43,0:43:60 0/0:40,0:40:60 0/0:42,0:42:60 0/0:41,0:41:60 0/0:62,0:62:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:132,0:132:60 0/0:37,0:37:60 0/0:38,0:38:60 0/1:120,17:137:99:139,0,3406 0/0:89,0:89:60 0/0:37,0:37:60 0/0:118,0:118:60 0/0:40,0:40:60 0/0:45,0:45:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:39,0:39:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:83,0:83:60 0/0:107,0:107:60 0/0:42,0:42:60 0/0:138,0:138:60 +chr1 874460 . C A 804.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.000;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=16.10;AS_ReadPosRankSum=1.500;AS_SOR=0.952;AS_VQSLOD=5.5645;AS_culprit=AS_MQ;BaseQRankSum=0.00;DP=2844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=16.09;ReadPosRankSum=1.60;SOR=0.952 GT:AD:DP:GQ:PL 0/0:37,0:37:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:68,0:68:60 0/0:34,0:34:60 0/0:99,0:99:60 0/0:37,0:37:60 0/0:170,0:170:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:61,0:61:60 0/0:38,0:38:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:75,0:75:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:156,0:156:60 0/1:22,28:50:99:823,0,614 0/0:43,0:43:60 0/0:40,0:40:60 0/0:42,0:42:60 0/0:41,0:41:60 0/0:62,0:62:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:89,0:89:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:40,0:40:60 0/0:45,0:45:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:39,0:39:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:23,0:23:60 0/0:31,0:31:50 0/0:16,0:16:30 0/0:35,0:35:60 +chr1 930939 rs9988021 G A 67117.32 PASS AC=129;AF=0.992;AN=130;AS_BaseQRankSum=0.500;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=34.24;AS_ReadPosRankSum=0.800;AS_SOR=6.051;AS_VQSLOD=4.7608;AS_culprit=AS_MQ;BaseQRankSum=0.501;DB;DP=1968;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=129;MLEAF=0.992;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=34.24;ReadPosRankSum=0.843;SOR=6.051 GT:AD:DP:GQ:PGT:PID:PL 1/1:0,56:56:99:.:.:1870,168,0 1/1:0,42:42:99:.:.:1419,126,0 1/1:0,42:42:99:.:.:1400,126,0 1/1:0,48:48:99:.:.:1528,144,0 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AC=79;AF=0.608;AN=130;AS_BaseQRankSum=-0.200;AS_FS=19.073;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0052;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=29.01;AS_ReadPosRankSum=-0.500;AS_SOR=2.445;AS_VQSLOD=0.4905;AS_culprit=AS_FS;BaseQRankSum=-1.570e-01;DB;DP=2563;ExcessHet=2.0236;FS=19.073;InbreedingCoeff=-0.0052;MLEAC=78;MLEAF=0.600;MQ=59.99;MQRankSum=0.00;QD=29.01;ReadPosRankSum=-4.610e-01;SOR=2.423 GT:AD:DP:GQ:PGT:PID:PL 0/0:77,0:77:60 0/1:32,42:74:99:.:.:1059,0,906 0/1:13,49:62:99:0|1:931131_C_CCCCT:2016,0,224 0/1:15,32:47:99:0|1:931131_C_CCCCT:1367,0,378 0/1:14,8:22:99:.:.:293,0,698 1/1:0,18:18:52:.:.:706,52,0 0/0:34,0:34:60 0/0:36,0:36:60 0/1:7,15:22:99:.:.:698,0,285 1/1:0,21:21:62:.:.:890,62,0 0/1:18,11:29:99:.:.:358,0,893 0/1:8,6:14:99:.:.:201,0,424 0/1:6,9:15:99:.:.:319,0,282 0/1:18,13:31:99:.:.:501,0,836 1/1:0,23:23:68:.:.:970,68,0 0/1:17,11:28:99:.:.:398,0,699 1/1:0,19:19:57:.:.:843,57,0 0/1:7,13:20:99:.:.:492,0,245 0/0:34,0:34:60 0/1:8,8:16:99:.:.:306,0,370 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1/1:1,21:22:23:.:.:788,23,0 0/1:12,11:23:99:.:.:436,0,487 0/0:37,0:37:60 0/0:35,0:35:60 1/1:0,13:13:38:.:.:552,38,0 0/1:8,15:23:99:.:.:559,0,290 0/1:11,9:22:99:.:.:281,0,582 1/1:0,23:23:74:.:.:1027,74,0 0/1:18,9:27:99:.:.:342,0,896 +chr1 931143 . T C 1125.29 VQSRTrancheSNP99.90to100.00+ AC=3;AF=0.023;AN=130;AS_BaseQRankSum=-2.700;AS_FS=342.391;AS_FilterStatus=VQSRTrancheSNP99.90to100.00+;AS_InbreedingCoeff=-0.0237;AS_MQ=59.70;AS_MQRankSum=0.000;AS_QD=5.18;AS_ReadPosRankSum=1.200;AS_SOR=8.051;AS_VQSLOD=-1081.5441;AS_culprit=AS_FS;BaseQRankSum=-2.622e+00;DP=2198;ExcessHet=0.1022;FS=342.391;InbreedingCoeff=-0.0237;MLEAC=3;MLEAF=0.023;MQ=59.92;MQRankSum=0.00;QD=5.19;ReadPosRankSum=1.30;SOR=8.051 GT:AD:DP:GQ:PGT:PID:PL 0/0:77,0:77:60 0/1:53,30:83:99:0|1:931143_T_C:742,0,2079 0/1:63,11:74:99:0|1:931143_T_C:116,0,2575 0/1:46,14:60:99:0|1:931143_T_C:308,0,1791 0/0:30,0:30:40 0/0:27,0:27:30 0/0:29,0:29:50 0/0:36,0:36:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:23,0:23:50 0/0:21,0:21:40 0/0:44,0:44:60 0/0:27,0:27:40 0/0:35,0:35:60 0/0:26,0:26:50 0/0:29,0:29:40 0/0:27,0:27:60 0/0:26,0:26:60 0/0:19,0:19:20 0/0:20,0:20:30 0/0:37,0:37:60 0/0:22,0:22:50 0/0:38,0:38:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:41,0:41:60 0/0:32,0:32:60 0/0:26,0:26:40 0/0:28,0:28:50 0/0:22,0:22:40 0/0:36,0:36:60 0/0:36,0:36:50 0/0:20,0:20:30 0/0:38,0:38:60 0/0:49,0:49:60 0/0:29,0:29:40 0/0:44,0:44:60 0/0:30,0:30:50 0/0:23,0:23:40 0/0:28,0:28:50 0/0:34,0:34:60 0/0:31,0:31:60 0/0:29,0:29:60 0/0:20,0:20:40 0/0:39,0:39:60 0/0:43,0:43:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:25,0:25:40 0/0:25,0:25:50 0/0:23,0:23:50 0/0:33,0:33:60 0/0:37,0:37:50 0/0:24,0:24:50 0/0:34,0:34:50 0/0:41,0:41:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:23,0:23:30 0/0:36,0:36:50 0/0:27,0:27:50 0/0:32,0:32:50 0/0:35,0:35:60 +chr1 935662 rs199537431 C CA 1154.59 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-0.900;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=18.33;AS_ReadPosRankSum=0.700;AS_SOR=0.933;AS_VQSLOD=1.7955;AS_culprit=AS_FS;BaseQRankSum=-8.390e-01;DB;DP=3105;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=18.33;ReadPosRankSum=0.895;SOR=1.000 GT:AD:DP:GQ:PL 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935835 rs28419423 C G 6303.83 PASS AC=4;AF=0.031;AN=130;AS_BaseQRankSum=0.350;AS_FS=0.989;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0317;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=14.69;AS_ReadPosRankSum=0.650;AS_SOR=0.888;AS_VQSLOD=8.2068;AS_culprit=AS_ReadPosRankSum;BaseQRankSum=1.33;DB;DP=2885;ExcessHet=0.2060;FS=0.989;InbreedingCoeff=-0.0317;MLEAC=4;MLEAF=0.031;MQ=59.99;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=14.69;ReadPosRankSum=0.709;SOR=0.888 GT:AD:DP:GQ:PL 0/0:71,0:71:60 0/0:29,0:29:60 0/0:29,0:29:60 0/0:39,0:39:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:39,0:39:60 0/0:37,0:37:60 0/0:41,0:41:60 0/0:38,0:38:60 0/0:38,0:38:60 0/0:50,0:50:60 0/0:34,0:34:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:51,0:51:60 0/0:39,0:39:60 0/0:40,0:40:60 0/1:54,68:122:99:1802,0,1414 0/0:38,0:38:60 0/0:37,0:37:60 0/0:38,0:38:60 0/0:43,0:43:60 0/0:45,0:45:60 0/0:45,0:45:60 0/0:45,0:45:60 0/0:36,0:36:60 0/0:45,0:45:60 0/0:40,0:40:60 0/0:36,0:36:60 0/0:53,0:53:60 0/0:50,0:50:60 0/0:40,0:40:60 0/0:47,0:47:60 0/0:46,0:46:60 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0/0:30,0:30:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:26,0:26:60 0/0:37,0:37:60 0/1:15,7:22:99:167,0,455 0/0:33,0:33:60 0/0:33,0:33:60 0/0:27,0:27:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:23,0:23:50 0/0:31,0:31:60 0/0:30,0:30:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:27,0:27:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:25,0:25:60 0/0:29,0:29:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:24,0:24:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:23,0:23:50 0/0:35,0:35:60 0/0:32,0:32:60 0/0:26,0:26:60 0/0:22,0:22:50 0/0:35,0:35:60 0/0:25,0:25:50 0/0:33,0:33:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:23,0:23:30 0/0:32,0:32:60 0/0:22,0:22:50 0/0:36,0:36:60 0/0:30,0:30:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:29,0:29:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:27,0:27:60 0/0:30,0:30:60 +chr1 939354 rs145967298 C T 2198.83 PASS AC=4;AF=0.031;AN=130;AS_BaseQRankSum=-0.400;AS_FS=1.470;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0317;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=14.96;AS_ReadPosRankSum=1.100;AS_SOR=0.864;AS_VQSLOD=7.0299;AS_culprit=AS_MQ;BaseQRankSum=-8.200e-02;DB;DP=2144;ExcessHet=0.2060;FS=1.470;InbreedingCoeff=-0.0317;MLEAC=4;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=14.96;ReadPosRankSum=1.62;SOR=0.864 GT:AD:DP:GQ:PL 0/0:40,0:40:60 0/0:39,0:39:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:26,0:26:60 0/0:37,0:37:60 0/0:26,0:26:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:27,0:27:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:30,0:30:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:27,0:27:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:29,0:29:60 0/0:33,0:33:60 0/1:21,22:43:99:551,0,581 0/0:29,0:29:60 0/0:32,0:32:60 0/0:21,0:21:50 0/0:37,0:37:60 0/0:33,0:33:60 0/0:39,0:39:60 0/0:35,0:35:60 0/1:13,17:30:99:491,0,337 0/0:37,0:37:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:27,0:27:40 0/0:33,0:33:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:33,0:33:60 0/0:40,0:40:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:31,0:31:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:35,0:35:60 0/0:36,0:36:60 0/1:18,22:40:99:584,0,460 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/1:12,22:34:99:622,0,295 0/0:30,0:30:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:30,0:30:60 +chr1 939484 rs141512630 CT C 176.59 VQSRTrancheINDEL95.00to96.00 AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.500;AS_FS=3.402;AS_FilterStatus=VQSRTrancheINDEL95.00to96.00;AS_InbreedingCoeff=-0.0078;AS_MQ=58.47;AS_MQRankSum=-1.700;AS_QD=4.02;AS_ReadPosRankSum=-1.500;AS_SOR=0.268;AS_VQSLOD=-0.5692;AS_culprit=AS_MQRankSum;BaseQRankSum=0.501;DB;DP=2255;ExcessHet=0.0000;FS=3.402;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=59.62;MQRankSum=-1.680e+00;QD=4.01;ReadPosRankSum=-1.425e+00;SOR=0.268 GT:AD:DP:GQ:PL 0/0:40,0:40:60 0/0:39,0:39:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:93,0:93:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:37,0:37:60 0/0:37,0:37:60 0/0:26,0:26:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:27,0:27:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:30,0:30:60 0/0:32,0:32:50 0/0:42,0:42:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:38,0:38:60 0/0:29,0:29:60 0/0:46,0:46:60 0/0:42,0:42:60 0/0:29,0:29:60 0/0:26,0:26:50 0/0:31,0:31:60 0/0:42,0:42:60 0/0:33,0:33:60 0/0:39,0:39:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:25,0:25:60 0/0:33,0:33:60 0/0:40,0:40:60 0/0:21,0:21:60 0/0:29,0:29:60 0/0:31,0:31:60 0/0:29,0:29:60 0/1:33,11:44:99:195,0,1063 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:41,0:41:60 0/0:36,0:36:60 0/0:39,0:39:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:30,0:30:60 +chr1 943045 . C T 414.32 PASS AC=2;AF=0.015;AN=130;AS_BaseQRankSum=-0.150;AS_FS=1.189;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0165;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=9.20;AS_ReadPosRankSum=0.900;AS_SOR=0.410;AS_VQSLOD=5.9634;AS_culprit=AS_MQ;BaseQRankSum=0.717;DP=1439;ExcessHet=0.0338;FS=1.189;InbreedingCoeff=-0.0166;MLEAC=2;MLEAF=0.015;MQ=60.00;MQRankSum=0.00;QD=9.21;ReadPosRankSum=1.37;SOR=0.410 GT:AD:DP:GQ:PL 0/0:18,0:18:50 0/0:12,0:12:30 0/0:13,0:13:30 0/0:8,0:8:20 0/0:28,0:28:60 0/0:23,0:23:50 0/0:29,0:29:60 0/0:26,0:26:60 0/0:13,0:13:30 0/0:24,0:24:60 0/0:21,0:21:50 0/0:25,0:25:60 0/0:13,0:13:30 0/0:27,0:27:60 0/0:19,0:19:50 0/0:29,0:29:60 0/1:11,9:20:99:233,0,282 0/0:32,0:32:60 0/0:24,0:24:40 0/0:26,0:26:60 0/0:17,0:17:50 0/0:18,0:18:50 0/0:28,0:28:60 0/0:31,0:31:60 0/0:22,0:22:60 0/0:24,0:24:60 0/0:15,0:15:30 0/0:26,0:26:60 0/0:19,0:19:50 0/0:13,0:13:30 0/0:13,0:13:30 0/0:18,0:18:40 0/0:24,0:24:60 0/0:25,0:25:60 0/0:12,0:12:30 0/0:28,0:28:60 0/0:25,0:25:40 0/0:16,0:16:40 0/0:27,0:27:60 0/0:15,0:15:10 0/0:20,0:20:50 0/0:22,0:22:60 0/0:21,0:21:50 0/0:27,0:27:60 0/0:24,0:24:60 0/0:28,0:28:60 0/0:26,0:26:60 0/0:23,0:23:50 0/0:31,0:31:60 0/0:24,0:24:60 0/0:12,0:12:30 0/0:30,0:30:60 0/0:18,0:18:40 0/0:31,0:31:60 0/0:24,0:24:60 0/0:21,0:21:60 0/0:17,0:17:40 0/0:20,0:20:40 0/0:19,0:19:50 0/0:21,0:21:50 0/0:13,0:13:30 0/0:36,0:36:60 0/0:30,0:30:60 0/1:15,10:25:99:212,0,384 0/0:29,0:29:60 +chr1 943136 rs201043644 GA G 551.35 PASS AC=2;AF=0.015;AN=130;AS_BaseQRankSum=.;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=0.8072;AS_MQ=60.00;AS_MQRankSum=.;AS_QD=30.61;AS_ReadPosRankSum=.;AS_SOR=0.914;AS_VQSLOD=3.9455;AS_culprit=AS_FS;DB;DP=957;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.7976;MLEAC=2;MLEAF=0.015;MQ=60.00;POSITIVE_TRAIN_SITE;QD=30.63;SOR=0.914 GT:AD:DP:GQ:PL 0/0:24,0:24:50 0/0:27,0:27:60 0/0:18,0:18:50 0/0:28,0:28:60 1/1:0,18:18:54:588,54,0 0/0:15,0:15:30 0/0:15,0:15:30 0/0:22,0:22:50 0/0:12,0:12:20 0/0:15,0:15:30 0/0:13,0:13:30 0/0:11,0:11:20 0/0:14,0:14:30 0/0:13,0:13:30 0/0:12,0:12:20 0/0:19,0:19:40 0/0:9,0:9:20 0/0:15,0:15:30 0/0:18,0:18:40 0/0:12,0:12:30 0/0:11,0:11:20 0/0:12,0:12:30 0/0:18,0:18:40 0/0:18,0:18:30 0/0:17,0:17:40 0/0:11,0:11:20 0/0:18,0:18:40 0/0:17,0:17:40 0/0:14,0:14:30 0/0:8,0:8:20 0/0:10,0:10:20 0/0:18,0:18:40 0/0:10,0:10:20 0/0:13,0:13:30 0/0:14,0:14:30 0/0:22,0:22:50 0/0:13,0:13:30 0/0:13,0:13:30 0/0:10,0:10:20 0/0:8,0:8:10 0/0:17,0:17:40 0/0:12,0:12:20 0/0:15,0:15:30 0/0:13,0:13:30 0/0:18,0:18:40 0/0:14,0:14:30 0/0:17,0:17:10 0/0:9,0:9:20 0/0:13,0:13:30 0/0:17,0:17:40 0/0:11,0:11:20 0/0:20,0:20:40 0/0:12,0:12:20 0/0:14,0:14:30 0/0:14,0:14:40 0/0:10,0:10:20 0/0:11,0:11:20 0/0:13,0:13:30 0/0:15,0:15:30 0/0:13,0:13:30 0/0:14,0:14:30 0/0:12,0:12:20 0/0:19,0:19:40 0/0:8,0:8:10 0/0:21,0:21:50 +chr1 943365 rs72902602 A C 661.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.200;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=10.68;AS_ReadPosRankSum=0.400;AS_SOR=0.811;AS_VQSLOD=7.2847;AS_culprit=AS_MQ;BaseQRankSum=0.245;DB;DP=2151;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.467;SOR=0.811 GT:AD:DP:GQ:PL 0/0:30,0:30:60 0/0:16,0:16:30 0/0:25,0:25:50 0/0:22,0:22:50 0/1:28,34:62:99:680,0,527 0/0:36,0:36:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:38,0:38:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:33,0:33:60 +chr1 943429 rs191952374 C T 1116.29 PASS AC=2;AF=0.015;AN=130;AS_BaseQRankSum=1.700;AS_FS=7.671;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0156;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=15.08;AS_ReadPosRankSum=0.600;AS_SOR=2.124;AS_VQSLOD=5.7096;AS_culprit=AS_MQ;BaseQRankSum=2.01;DB;DP=2074;ExcessHet=0.0338;FS=7.671;InbreedingCoeff=-0.0156;MLEAC=2;MLEAF=0.015;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=15.08;ReadPosRankSum=1.48;SOR=2.124 GT:AD:DP:GQ:PL 0/0:18,0:18:50 0/0:16,0:16:40 0/0:16,0:16:40 0/0:15,0:15:40 0/0:22,0:22:50 0/0:36,0:36:60 0/0:33,0:33:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:31,0:31:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:31,0:31:60 0/1:18,16:34:99:454,0,483 0/0:30,0:30:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:22,0:22:40 0/0:33,0:33:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:32,0:32:60 0/1:16,24:40:99:693,0,395 0/0:34,0:34:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:33,0:33:60 +chr1 943937 rs7523549 C T 984.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=0.800;AS_FS=6.350;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=14.28;AS_ReadPosRankSum=-1.800;AS_SOR=1.118;AS_VQSLOD=5.5451;AS_culprit=AS_ReadPosRankSum;BaseQRankSum=0.837;DB;DP=2269;ExcessHet=0.0000;FS=6.350;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=14.27;ReadPosRankSum=-1.755e+00;SOR=1.118 GT:AD:DP:GQ:PL 0/0:30,0:30:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:29,0:29:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:43,0:43:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:39,0:39:60 0/0:40,0:40:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:37,0:37:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:36,0:36:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:40,0:40:60 0/0:35,0:35:60 0/0:36,0:36:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:38,0:38:60 0/0:41,0:41:60 0/0:37,0:37:60 0/0:35,0:35:60 0/0:36,0:36:60 0/1:33,36:69:99:1003,0,879 0/0:34,0:34:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:37,0:37:60 0/0:36,0:36:60 0/0:38,0:38:60 +chr1 944795 . C T 296.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-1.800;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=1.500;AS_QD=12.38;AS_ReadPosRankSum=0.300;AS_SOR=0.317;AS_VQSLOD=0.7709;AS_culprit=AS_MQRankSum;BaseQRankSum=-1.762e+00;DP=1918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=58.66;MQRankSum=1.51;QD=12.36;ReadPosRankSum=0.318;SOR=0.317 GT:AD:DP:GQ:PL 0/0:31,0:31:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:28,0:28:60 0/0:13,0:13:30 0/0:32,0:32:60 0/0:32,0:32:60 0/0:36,0:36:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:28,0:28:60 0/0:32,0:32:60 0/1:12,12:24:99:315,0,342 0/0:26,0:26:50 0/0:24,0:24:50 0/0:16,0:16:30 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:27,0:27:60 0/0:28,0:28:60 0/0:28,0:28:60 0/0:30,0:30:60 0/0:19,0:19:30 0/0:33,0:33:60 0/0:31,0:31:60 0/0:26,0:26:60 0/0:20,0:20:40 0/0:38,0:38:60 0/0:36,0:36:60 0/0:30,0:30:60 0/0:28,0:28:60 0/0:23,0:23:50 0/0:34,0:34:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:38,0:38:60 0/0:35,0:35:60 0/0:27,0:27:60 0/0:31,0:31:60 0/0:26,0:26:60 0/0:23,0:23:50 0/0:24,0:24:50 0/0:25,0:25:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:35,0:35:60 0/0:26,0:26:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:27,0:27:60 0/0:28,0:28:60 0/0:34,0:34:60 0/0:27,0:27:60 0/0:19,0:19:40 0/0:20,0:20:50 0/0:26,0:26:60 0/0:30,0:30:60 +chr1 945010 rs3748593 C A 531.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=1.800;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=10.64;AS_ReadPosRankSum=-0.700;AS_SOR=0.632;AS_VQSLOD=8.4110;AS_culprit=AS_MQ;BaseQRankSum=1.83;DB;DP=2238;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;POSITIVE_TRAIN_SITE;QD=10.63;ReadPosRankSum=-6.690e-01;SOR=0.632 GT:AD:DP:GQ:PL 0/0:36,0:36:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:27,0:27:60 0/0:36,0:36:60 0/0:38,0:38:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:30,0:30:60 0/0:39,0:39:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:29,0:29:60 0/0:37,0:37:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:40,0:40:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:66,0:66:60 0/0:37,0:37:60 0/0:31,0:31:60 0/1:29,21:50:99:550,0,746 0/0:32,0:32:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:40,0:40:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:31,0:31:60 0/0:27,0:27:60 +chr1 945086 rs138652036 T C 479.62 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-0.400;AS_FS=5.931;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=9.60;AS_ReadPosRankSum=-2.100;AS_SOR=0.162;AS_VQSLOD=4.0849;AS_culprit=AS_ReadPosRankSum;BaseQRankSum=-3.330e-01;DB;DP=2188;ExcessHet=0.0000;FS=5.931;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-2.087e+00;SOR=0.162 GT:AD:DP:GQ:PL 0/0:36,0:36:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:27,0:27:60 0/0:36,0:36:60 0/0:38,0:38:60 0/0:35,0:35:60 0/0:35,0:35:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:30,0:30:60 0/0:39,0:39:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:29,0:29:60 0/0:24,0:24:50 0/0:31,0:31:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:37,0:37:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:40,0:40:60 0/0:36,0:36:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:33,0:33:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:34,0:34:60 0/0:34,0:34:60 0/1:29,21:50:99:498,0,759 0/0:37,0:37:60 0/0:31,0:31:60 0/0:39,0:39:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:41,0:41:60 0/0:35,0:35:60 0/0:33,0:33:60 0/0:36,0:36:60 0/0:31,0:31:60 0/0:27,0:27:60 +chr1 945573 rs138129954 G A 2776.29 PASS AC=2;AF=0.015;AN=130;AS_BaseQRankSum=0.150;AS_FS=0.000;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0156;AS_MQ=54.63;AS_MQRankSum=-0.550;AS_QD=11.24;AS_ReadPosRankSum=-0.300;AS_SOR=0.730;AS_VQSLOD=2.7778;AS_culprit=AS_MQRankSum;BaseQRankSum=1.39;DB;DP=2431;ExcessHet=0.0338;FS=0.000;InbreedingCoeff=-0.0156;MLEAC=2;MLEAF=0.015;MQ=54.82;MQRankSum=0.333;QD=11.24;ReadPosRankSum=0.030;SOR=0.730 GT:AD:DP:GQ:PL 0/0:36,0:36:60 0/0:33,0:33:60 0/0:39,0:39:60 0/0:30,0:30:60 0/0:29,0:29:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:28,0:28:60 0/0:32,0:32:60 0/1:66,52:118:99:1263,0,1714 0/0:30,0:30:60 0/0:36,0:36:60 0/0:64,0:64:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:28,0:28:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:28,0:28:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:117,0:117:60 0/0:26,0:26:60 0/0:33,0:33:60 0/0:32,0:32:60 0/1:71,58:129:99:1544,0,1802 0/0:34,0:34:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:33,0:33:60 0/0:66,0:66:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:28,0:28:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:27,0:27:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:28,0:28:60 0/0:31,0:31:60 +chr1 945670 rs374558436 C T 1359.63 PASS AC=1;AF=7.692e-03;AN=130;AS_BaseQRankSum=-3.400;AS_FS=0.911;AS_FilterStatus=PASS;AS_InbreedingCoeff=-0.0078;AS_MQ=60.00;AS_MQRankSum=0.000;AS_QD=14.47;AS_ReadPosRankSum=0.300;AS_SOR=0.581;AS_VQSLOD=7.7760;AS_culprit=AS_MQ;BaseQRankSum=-3.393e+00;DB;DP=2288;ExcessHet=0.0000;FS=0.911;InbreedingCoeff=-0.0078;MLEAC=1;MLEAF=7.692e-03;MQ=60.00;MQRankSum=0.00;QD=14.46;ReadPosRankSum=0.320;SOR=0.581 GT:AD:DP:GQ:PL 0/0:36,0:36:60 0/0:33,0:33:60 0/0:39,0:39:60 0/0:30,0:30:60 0/0:29,0:29:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:35,0:35:60 0/0:37,0:37:60 0/0:28,0:28:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:30,0:30:60 0/0:36,0:36:60 0/0:64,0:64:60 0/0:34,0:34:60 0/0:36,0:36:60 0/0:32,0:32:60 0/0:35,0:35:60 0/0:32,0:32:60 0/0:32,0:32:60 0/0:28,0:28:60 0/0:30,0:30:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:28,0:28:60 0/0:34,0:34:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:32,0:32:60 0/0:31,0:31:60 0/0:31,0:31:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:117,0:117:60 0/0:26,0:26:60 0/0:33,0:33:60 0/0:32,0:32:60 0/0:38,0:38:60 0/0:34,0:34:60 0/0:37,0:37:60 0/0:33,0:33:60 0/0:34,0:34:60 0/0:33,0:33:60 0/1:41,53:94:99:1378,0,1117 0/0:34,0:34:60 0/0:31,0:31:60 0/0:33,0:33:60 0/0:28,0:28:60 0/0:29,0:29:60 0/0:34,0:34:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:32,0:32:60 0/0:34,0:34:60 0/0:35,0:35:60 0/0:31,0:31:60 0/0:27,0:27:60 0/0:33,0:33:60 0/0:30,0:30:60 0/0:34,0:34:60 0/0:28,0:28:60 0/0:31,0:31:60 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected.vcf.idx b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected.vcf.idx new file mode 100644 index 00000000000..545d172029e Binary files /dev/null and b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected.vcf.idx differ diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/empty_file.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/empty_file.txt new file mode 100644 index 00000000000..e69de29bb2d diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/expected_warning_as_vqslod.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/expected_warning_as_vqslod.txt new file mode 100644 index 00000000000..ba4d380a12a --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/expected_warning_as_vqslod.txt @@ -0,0 +1 @@ +At position chr1:186475 Variant contexts have different attribute values for AS_VQSLOD: actual has -4.8149 and expected has -3.2178 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/expected_warning_filter.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/expected_warning_filter.txt new file mode 100644 index 00000000000..71290b47f92 --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/expected_warning_filter.txt @@ -0,0 +1 @@ +At position chr1:187471 Variant contexts have different attribute values for AS_FilterStatus: actual has VQSRTrancheSNP99.00to99.90+ and expected has VQSRTrancheSNP99.90to100.00+ diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/haploid_warning.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/haploid_warning.txt new file mode 100644 index 00000000000..e49dc746145 --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/haploid_warning.txt @@ -0,0 +1 @@ +At position chrX:66780645 Genotypes have different alleles: actual has [CT] expected has [CT, CT] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/haploid_warning2.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/haploid_warning2.txt new file mode 100644 index 00000000000..4c8f4ccb983 --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/haploid_warning2.txt @@ -0,0 +1 @@ +At position chrX:66780645 Genotypes have different alleles: actual has [CT, CT] expected has [CT] diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/qual_diff_warning.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/qual_diff_warning.txt new file mode 100644 index 00000000000..edf6e9481ee --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/qual_diff_warning.txt @@ -0,0 +1 @@ +At position chr1:945670 qual scores differ by 0.010000000000218279, which is more than 0.001 \ No newline at end of file diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/ref_block_warning.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/ref_block_warning.txt new file mode 100644 index 00000000000..08bd23b1aa1 --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/ref_block_warning.txt @@ -0,0 +1,2 @@ +At position chr1:54682 Variant contexts have different attribute values for END: actual has 207666 and expected has 207668 +Unmatched variant in actual at position chr1:257667 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/tree_score_warning.txt b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/tree_score_warning.txt new file mode 100644 index 00000000000..3275b4a0748 --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/expected/tree_score_warning.txt @@ -0,0 +1 @@ +At position chr1:792417 Variant contexts have different attribute values for TREE_SCORE: actual has 0.311083 and expected has 0.372848 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/haploid.rb.g.vcf b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/haploid.rb.g.vcf new file mode 100644 index 00000000000..3b618fa7da1 --- /dev/null +++ b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/haploid.rb.g.vcf @@ -0,0 +1,64 @@ +##fileformat=VCFv4.2 +##FILTER= +##ALT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##FORMAT= +##GVCFBlock0-20=minGQ=0(inclusive),maxGQ=20(exclusive) +##GVCFBlock20-30=minGQ=20(inclusive),maxGQ=30(exclusive) +##GVCFBlock30-40=minGQ=30(inclusive),maxGQ=40(exclusive) +##GVCFBlock40-100=minGQ=40(inclusive),maxGQ=100(exclusive) +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##INFO= +##contig= +##reference=file:///seq/dragen/references/GRCh38dh/v3.7.8/reference.bin +##source=ReblockGVCF +##bcftools_viewVersion=1.19+htslib-1.19 +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT haploid +chrX 66780645 . C CT, 65.55 . AS_QUALapprox=|71|0;AS_VarDP=0|4|0;DP=9;MQ=216.86;QUALapprox=71;RAW_GT_COUNT=0,0,1;RAW_MQandDP=423254,9;VarDP=4 GT:AD:AF:DP:F1R2:F2R1:GQ:ICNT:MB:PL:SB:SPL 1:0,4,0:1,0:4:0,1,0:0,3,0:71:0,4:0,0,2,2:71,0,89:0,0,1,3:0,110 +chrX 66780646 . T TA, 44.8 . AS_QUALapprox=|50|0;AS_VarDP=13|8|0;DP=30;MQ=218.46;QUALapprox=50;RAW_GT_COUNT=0,1,0;RAW_MQandDP=1431743,30;VarDP=21 GT:AD:AF:DP:F1R2:F2R1:GQ:ICNT:MB:PL:SB:SPL 1:0,4,0:1,0:4:0,1,0:0,3,0:71:0,4:0,0,2,2:71,0,89:0,0,1,3:0,110 diff --git a/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/haploid.rb.g.vcf.idx b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/haploid.rb.g.vcf.idx new file mode 100644 index 00000000000..2acdf9a2707 Binary files /dev/null and b/src/test/resources/org/broadinstitute/hellbender/tools/walkers/VCFComparator/haploid.rb.g.vcf.idx differ