Examples with Transcript com.github.lindenb.jvarkit.util.bio.structure.Transcript used on opensource projects

Example 6 with Transcript

use of com.github.lindenb.jvarkit.util.bio.structure.Transcript in project jvarkit by lindenb.

the class VcfToSvg method doWork.

@Override
public int doWork(final List<String> args) {
    VCFReader r = null;
    OutputStream outputStream = null;
    XMLStreamWriter w = null;
    PrintWriter manifestW = null;
    ArchiveFactory archiveFactory = null;
    try {
        r = VCFReaderFactory.makeDefault().open(Paths.get(oneAndOnlyOneFile(args)), true);
        final VCFHeader header = r.getHeader();
        final List<String> samples = new ArrayList<>(header.getSampleNamesInOrder());
        final SAMSequenceDictionary dict = SequenceDictionaryUtils.extractRequired(header);
        intervalListProvider.dictionary(dict);
        /* read gtf if any */
        final IntervalTreeMap<Gene> geneMap = new IntervalTreeMap<>();
        if (this.gtfPath != null) {
            try (GtfReader gtfReader = new GtfReader(this.gtfPath)) {
                gtfReader.setContigNameConverter(ContigNameConverter.fromOneDictionary(dict));
                gtfReader.getAllGenes().stream().filter(G -> !this.removeNonCoding || G.getTranscripts().stream().anyMatch(T -> T.isCoding())).forEach(G -> geneMap.put(new Interval(G), G));
            }
        }
        archiveFactory = ArchiveFactory.open(this.outputPath);
        if (manifestFile != null) {
            manifestW = IOUtils.openPathForPrintWriter(this.manifestFile);
        } else {
            manifestW = new PrintWriter(new NullOuputStream());
        }
        final Pedigree pedigree;
        if (this.pedPath == null) {
            pedigree = PedigreeParser.empty();
        } else {
            pedigree = new PedigreeParser().parse(this.pedPath);
        }
        final Path tmpSvg = Files.createTempFile("vcf.", ".svg");
        final XMLOutputFactory xof = XMLOutputFactory.newInstance();
        for (final Locatable interval : intervalListProvider.dictionary(dict).stream().collect(Collectors.toList())) {
            final List<VariantContext> variants = r.query(interval).stream().filter(V -> this.variantFILTEREDOpacity > 0 || !V.isFiltered()).filter(V -> this.variantIndelOpacity > 0 || !V.isIndel()).collect(Collectors.toCollection(ArrayList::new));
            if (variants.isEmpty())
                continue;
            final List<Transcript> transcripts = geneMap.getOverlapping(interval).stream().flatMap(G -> G.getTranscripts().stream()).filter(T -> !this.removeNonCoding || T.isCoding()).collect(Collectors.toList());
            variants.removeIf(V -> this.gtfPath != null && this.variantsInExonOnly && transcripts.stream().flatMap(T -> T.getExons().stream()).noneMatch(EX -> EX.overlaps(V)));
            if (variants.isEmpty())
                continue;
            final String geneId = transcripts.stream().map(T -> T.getGene().getId()).collect(Collectors.toSet()).stream().collect(HtsCollectors.oneAndOnlyOne()).orElse(null);
            final String geneName = transcripts.stream().map(T -> T.getGene().getGeneName()).collect(Collectors.toSet()).stream().collect(HtsCollectors.oneAndOnlyOne()).orElse(null);
            outputStream = IOUtils.openPathForWriting(tmpSvg);
            w = xof.createXMLStreamWriter(outputStream);
            double featureHeight = 10;
            double TRANSCRIPT_HEIGHT = featureHeight;
            final int all_genotypes_width = variants.size() * this.genotype_width;
            final int drawinAreaWidth = Math.max(all_genotypes_width, 1000);
            final int interline_weight = 6;
            final int margin_top = 10;
            final int margin_bottom = 10;
            final int margin_right = 100;
            final int margin_left = 100;
            w.writeStartDocument("UTF-8", "1.0");
            w.writeStartElement("svg");
            w.writeDefaultNamespace(SVG.NS);
            w.writeNamespace("xlink", XLINK.NS);
            w.writeAttribute("version", "1.1");
            w.writeAttribute("width", String.valueOf(margin_right + margin_right + drawinAreaWidth));
            w.writeAttribute("height", String.valueOf(margin_top + margin_bottom + transcripts.size() * TRANSCRIPT_HEIGHT + interline_weight * featureHeight + samples.size() * this.genotype_width));
            title(w, interval.getContig() + ":" + interval.getStart() + "-" + interval.getEnd());
            w.writeStartElement("desc");
            w.writeCharacters("generated with " + getProgramName() + "\n" + "Author: Pierre Lindenbaum PhD. @yokofakun .");
            w.writeEndElement();
            // defs
            w.writeStartElement("defs");
            // genotypes
            w.writeStartElement("g");
            // 
            w.writeAttribute("id", "g_" + GenotypeType.HOM_REF);
            w.writeEmptyElement("rect");
            w.writeAttribute("style", "fill:lime;stroke;none;");
            w.writeAttribute("x", "0");
            w.writeAttribute("y", "0");
            w.writeAttribute("width", String.valueOf(this.genotype_width));
            w.writeAttribute("height", String.valueOf(this.genotype_width));
            w.writeEndElement();
            w.writeStartElement("g");
            // 
            w.writeAttribute("id", "g_" + GenotypeType.NO_CALL);
            w.writeEmptyElement("rect");
            w.writeAttribute("style", "fill:silver;stroke;gray;");
            w.writeAttribute("x", "0");
            w.writeAttribute("y", "0");
            w.writeAttribute("width", String.valueOf(this.genotype_width));
            w.writeAttribute("height", String.valueOf(this.genotype_width));
            w.writeEndElement();
            w.writeStartElement("g");
            // 
            w.writeAttribute("id", "g_" + GenotypeType.HOM_VAR);
            w.writeEmptyElement("rect");
            w.writeAttribute("style", "fill:crimson;stroke;none;");
            w.writeAttribute("x", "0");
            w.writeAttribute("y", "0");
            w.writeAttribute("width", String.valueOf(this.genotype_width));
            w.writeAttribute("height", String.valueOf(this.genotype_width));
            w.writeEndElement();
            w.writeStartElement("g");
            // 
            w.writeAttribute("id", "g_" + GenotypeType.MIXED);
            w.writeEmptyElement("rect");
            w.writeAttribute("style", "fill:pink;stroke;none;");
            w.writeAttribute("x", "0");
            w.writeAttribute("y", "0");
            w.writeAttribute("width", String.valueOf(this.genotype_width));
            w.writeAttribute("height", String.valueOf(this.genotype_width));
            w.writeEndElement();
            w.writeStartElement("g");
            // 
            w.writeAttribute("id", "g_" + GenotypeType.UNAVAILABLE);
            w.writeEmptyElement("rect");
            w.writeAttribute("style", "fill:gray;stroke;none;");
            w.writeAttribute("x", "0");
            w.writeAttribute("y", "0");
            w.writeAttribute("width", String.valueOf(this.genotype_width));
            w.writeAttribute("height", String.valueOf(this.genotype_width));
            w.writeEndElement();
            w.writeStartElement("g");
            // 
            w.writeAttribute("id", "g_" + GenotypeType.HET);
            w.writeEmptyElement("rect");
            w.writeAttribute("style", "fill:lime;stroke;black;");
            w.writeAttribute("x", "0");
            w.writeAttribute("y", "0");
            w.writeAttribute("width", String.valueOf(genotype_width));
            w.writeAttribute("height", String.valueOf(genotype_width));
            w.writeEmptyElement("polygon");
            w.writeAttribute("style", "fill:crimson;stroke;black;");
            w.writeAttribute("points", "0,0 " + genotype_width + ",0 0," + genotype_width + " 0,0");
            w.writeEndElement();
            // strand
            w.writeEmptyElement("polyline");
            w.writeAttribute("id", "strandF");
            w.writeAttribute("points", "-5,-5 0,0 -5,5");
            w.writeEmptyElement("polyline");
            w.writeAttribute("id", "strandR");
            w.writeAttribute("points", "5,-5 0,0 5,5");
            // gradients
            w.writeStartElement("linearGradient");
            w.writeAttribute("id", "grad01");
            w.writeAttribute("x1", "50%");
            w.writeAttribute("x2", "50%");
            w.writeAttribute("y1", "0%");
            w.writeAttribute("y2", "100%");
            w.writeEmptyElement("stop");
            w.writeAttribute("offset", "0%");
            w.writeAttribute("style", "stop-color:black;stop-opacity:1;");
            w.writeEmptyElement("stop");
            w.writeAttribute("offset", "50%");
            w.writeAttribute("style", "stop-color:white;stop-opacity:1;");
            w.writeEmptyElement("stop");
            w.writeAttribute("offset", "100%");
            w.writeAttribute("style", "stop-color:black;stop-opacity:1;");
            w.writeEndElement();
            // defs
            w.writeEndElement();
            w.writeStartElement("style");
            w.writeCharacters("svg {fill:none; stroke:black;}\n" + "text {fill:black;stroke:none;font-size:" + (featureHeight / 1.5) + "px;}\n" + ".ruler-label { stroke:red;}\n" + ".frame { stroke:black;fill:none;}\n" + ".kgexon {fill:url(#grad01);stroke:black;}\n" + ".gcpercent {fill:url(#grad02);stroke:black;}" + ".coverage {fill:url(#grad03);stroke:black;}" + ".kgcds {fill:yellow;stroke:black;opacity:0.7;}\n" + ".variant{stroke:none;fill:red;opacity:0.2;}\n" + ".xaxis{stroke:gray;fill:none;opacity:0.2;}\n" + ".postick{font-size:9px;stroke:black;stroke-width:1;}");
            // style
            w.writeEndElement();
            final IntFunction<Integer> trim = t -> Math.max(interval.getStart(), Math.min(interval.getEnd(), t));
            final IntFunction<Double> baseToPixel = t -> margin_left + drawinAreaWidth * (t - (double) interval.getStart()) / ((double) interval.getLengthOnReference());
            final IntFunction<Double> variantIndexToPixel = idx -> {
                final double variant_width = drawinAreaWidth / (double) variants.size();
                final double midx = variant_width * idx + variant_width / 2.0;
                return margin_left + midx - genotype_width / 2.0;
            };
            final Function<VariantContext, String> variantTitle = V -> (V.getContig().startsWith("chr") ? V.getContig().substring(3) : V.getContig()) + ":" + V.getStart() + " " + V.getReference().getDisplayString();
            /**
             * title
             */
            double y = 0;
            w.writeStartElement("text");
            w.writeAttribute("x", "0");
            w.writeAttribute("y", String.valueOf(featureHeight));
            w.writeCharacters(interval.toString());
            w.writeEndElement();
            y += featureHeight;
            for (final Transcript g : transcripts) {
                int cdsHeigh = 5;
                double exonHeight = TRANSCRIPT_HEIGHT - 5;
                double midY = TRANSCRIPT_HEIGHT / 2;
                w.writeStartElement("g");
                w.writeAttribute("transform", "translate(0," + y + ")");
                title(w, g.getId());
                w.writeStartElement("text");
                w.writeAttribute("x", String.valueOf(margin_left - 10));
                w.writeAttribute("y", String.valueOf(featureHeight));
                w.writeAttribute("style", "text-anchor:end;");
                w.writeCharacters(g.getId());
                w.writeEndElement();
                /* transcript line */
                w.writeEmptyElement("line");
                w.writeAttribute("class", "kgtr");
                w.writeAttribute("x1", String.valueOf(baseToPixel.apply(trim.apply(g.getTxStart()))));
                w.writeAttribute("y1", String.valueOf(midY));
                w.writeAttribute("x2", String.valueOf(baseToPixel.apply(trim.apply(g.getTxEnd()))));
                w.writeAttribute("y2", String.valueOf(midY));
                /* strand symbols */
                for (double pixX = 0; pixX < drawinAreaWidth; pixX += 30) {
                    double pos0 = interval.getStart() + (pixX / (double) drawinAreaWidth) * interval.getLengthOnReference();
                    if (pos0 + 1 < g.getTxStart())
                        continue;
                    if (pos0 > g.getTxEnd())
                        break;
                    w.writeEmptyElement("use");
                    w.writeAttribute("class", "kgstrand");
                    w.writeAttribute("xlink", XLINK.NS, "href", "#strand" + (g.isPositiveStrand() ? "F" : "R"));
                    w.writeAttribute("x", String.valueOf(margin_left + pixX));
                    w.writeAttribute("y", String.valueOf(midY));
                }
                /* exons */
                for (final Exon exon : g.getExons()) {
                    if (exon.getStart() + 1 >= interval.getEnd())
                        continue;
                    if (exon.getEnd() <= interval.getStart())
                        continue;
                    w.writeStartElement("rect");
                    w.writeAttribute("class", "kgexon");
                    w.writeAttribute("x", String.valueOf(baseToPixel.apply(trim.apply(exon.getStart()))));
                    w.writeAttribute("y", String.valueOf(midY - exonHeight / 2));
                    w.writeAttribute("width", String.valueOf(baseToPixel.apply(trim.apply(exon.getEnd())) - baseToPixel.apply((trim.apply(exon.getStart())))));
                    w.writeAttribute("height", String.valueOf(exonHeight));
                    title(w, exon.getName());
                    w.writeEndElement();
                }
                /* coding line */
                if (!g.isNonCoding() && g.hasCodonStartDefined() && g.hasCodonStopDefined()) {
                    final double codonx1 = baseToPixel.apply(trim.apply(g.getLeftmostCodon().get().getStart()));
                    final double codonx2 = baseToPixel.apply(trim.apply(g.getRightmostCodon().get().getEnd()));
                    w.writeEmptyElement("rect");
                    w.writeAttribute("class", "kgcds");
                    w.writeAttribute("x", String.valueOf(codonx1));
                    w.writeAttribute("y", String.valueOf(midY - cdsHeigh / 4.0));
                    w.writeAttribute("width", String.valueOf(baseToPixel.apply((int) (codonx2 - codonx1))));
                    w.writeAttribute("height", String.valueOf(cdsHeigh / 2.0));
                }
                // String label=String.format("%15s", g.getName());
                // w.writeEmptyElement("path");
                // double fontHeight=Math.min(10,0.8*TRANSCRIPT_HEIGHT);
                // w.writeAttribute("d",this.hershey.svgPath(label,-insets.left,midY-fontHeight/2,insets.left*0.9,fontHeight));
                w.writeEndElement();
                w.writeCharacters("\n");
                y += featureHeight;
            }
            /* draw lines to variants */
            for (int vidx = 0; vidx < variants.size(); ++vidx) {
                final VariantContext vc = variants.get(vidx);
                double x1 = baseToPixel.apply(vc.getStart());
                double x2 = baseToPixel.apply(vc.getEnd());
                final double y2 = y + featureHeight * interline_weight;
                w.writeStartElement("polygon");
                w.writeAttribute("style", "fill:" + (vidx % 2 == 0 ? "ghostwhite" : "lavender") + ";stroke:black;opacity:0.6;stroke-width:0.5;");
                w.writeAttribute("points", "" + x1 + "," + (y - featureHeight / 2.0) + " " + x2 + "," + (y - featureHeight / 2.0) + " " + variantIndexToPixel.apply(vidx) + "," + y2 + " " + (variantIndexToPixel.apply(vidx) + this.genotype_width) + "," + y2);
                title(w, variantTitle.apply(vc));
                w.writeEndElement();
            }
            for (int vidx = 0; vidx < variants.size(); ++vidx) {
                final VariantContext vc = variants.get(vidx);
                final double y2 = y + featureHeight * interline_weight;
                w.writeStartElement("text");
                w.writeAttribute("transform", "translate(" + (String.valueOf(variantIndexToPixel.apply(vidx) + genotype_width / 2.0)) + "," + String.valueOf(y2 - 5) + ") " + "rotate(-45)");
                w.writeAttribute("x", "0");
                w.writeAttribute("y", "0");
                w.writeAttribute("class", "postick");
                w.writeCharacters(variantTitle.apply(vc));
                w.writeEndElement();
                w.writeCharacters("\n");
            }
            y += featureHeight * interline_weight;
            w.writeStartElement("g");
            /* step 0: affected, 1: unaffected, 2: others */
            for (int step = 0; step < 3; ++step) {
                for (final String sample : samples) {
                    final Sample individual = pedigree.getSampleById(sample);
                    if (step == 0 && (individual == null || !individual.isAffected()))
                        continue;
                    if (step == 1 && (individual == null || !individual.isUnaffected()))
                        continue;
                    if (step == 2 && individual != null && individual.isStatusSet())
                        continue;
                    // sample
                    w.writeStartElement("g");
                    switch(step) {
                        case 0:
                            w.writeAttribute("style", "hue-rotate(195deg);");
                            break;
                        case 1:
                            w.writeAttribute("style", "hue-rotate(45deg);");
                            break;
                        default:
                            break;
                    }
                    for (int vidx = 0; vidx < variants.size(); ++vidx) {
                        final VariantContext vc = variants.get(vidx);
                        final Genotype g = vc.getGenotype(sample);
                        double opacity = 1.0;
                        if (vc.isIndel())
                            opacity *= this.variantIndelOpacity;
                        if (vc.isFiltered())
                            opacity *= this.variantFILTEREDOpacity;
                        if (opacity > 1)
                            opacity = 1;
                        if (opacity <= 0)
                            continue;
                        if (opacity < 1) {
                            w.writeStartElement("g");
                            w.writeAttribute("style", "opacity:" + opacity + ";");
                        }
                        w.writeEmptyElement("use");
                        w.writeAttribute("x", String.valueOf(variantIndexToPixel.apply(vidx)));
                        w.writeAttribute("y", String.valueOf(y));
                        w.writeAttribute("xlink", XLINK.NS, "href", "#g_" + g.getType());
                        if (opacity < 1) {
                            w.writeEndElement();
                        }
                    }
                    w.writeCharacters("\n");
                    w.writeStartElement("text");
                    w.writeAttribute("x", String.valueOf(margin_left - 10));
                    w.writeAttribute("y", String.valueOf(y + this.genotype_width / 2.0));
                    w.writeAttribute("style", "text-anchor:end;");
                    w.writeCharacters(sample);
                    // text
                    w.writeEndElement();
                    // g for sample
                    w.writeEndElement();
                    y += this.genotype_width;
                }
            }
            w.writeCharacters("\n");
            w.writeEndDocument();
            w.writeCharacters("\n");
            w.flush();
            w.close();
            final String md5 = StringUtils.md5(interval.getContig() + ":" + interval.getStart() + "-" + interval.getEnd());
            final String filename = md5.substring(0, 2) + File.separatorChar + md5.substring(2) + File.separator + interval.getContig().replaceAll("[/\\:]", "_") + "_" + interval.getStart() + "_" + interval.getEnd() + (StringUtils.isBlank(geneName) ? "" : "." + geneName.replaceAll("[/\\:]", "")) + (StringUtils.isBlank(geneId) ? "" : "." + geneId.replaceAll("[/\\:]", "")) + ".svg";
            OutputStream os = archiveFactory.openOuputStream(filename);
            IOUtils.copyTo(tmpSvg, os);
            os.flush();
            os.close();
            Files.delete(tmpSvg);
            manifestW.print(interval.getContig());
            manifestW.print('\t');
            manifestW.print(interval.getStart() - 1);
            manifestW.print('\t');
            manifestW.print(interval.getEnd());
            manifestW.print('\t');
            manifestW.print(transcripts.stream().map(G -> G.getGene().getId()).collect(Collectors.toSet()).stream().collect(Collectors.joining(";")));
            manifestW.print('\t');
            manifestW.print(transcripts.stream().map(G -> G.getGene().getGeneName()).collect(Collectors.toSet()).stream().collect(Collectors.joining(";")));
            manifestW.print('\t');
            manifestW.print(transcripts.stream().map(G -> G.getId()).collect(Collectors.toSet()).stream().collect(Collectors.joining(";")));
            manifestW.print('\t');
            manifestW.print((archiveFactory.isTarOrZipArchive() ? "" : this.outputPath.toString() + File.separator) + filename);
            manifestW.print('\t');
            manifestW.println(variants.size());
        }
        r.close();
        manifestW.flush();
        manifestW.close();
        manifestW = null;
        archiveFactory.close();
        archiveFactory = null;
        return 0;
    } catch (final Throwable err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(archiveFactory);
        CloserUtil.close(r);
        CloserUtil.close(outputStream);
        CloserUtil.close(manifestW);
    }
}

Example 7 with Transcript

use of com.github.lindenb.jvarkit.util.bio.structure.Transcript in project jvarkit by lindenb.

the class SVPredictions method doVcfToVcf.

@Override
protected int doVcfToVcf(String inputName, VCFIterator r, VariantContextWriter w) {
    try {
        final VCFHeader header = r.getHeader();
        final SAMSequenceDictionary dict = header.getSequenceDictionary();
        try (final GtfReader gtfReader = new GtfReader(this.gtfPath)) {
            if (dict != null)
                gtfReader.setContigNameConverter(ContigNameConverter.fromOneDictionary(dict));
            gtfReader.getAllGenes().stream().forEach(G -> this.all_gene.put(new Interval(G), G));
        }
        final VCFHeader h2 = new VCFHeader(header);
        /* split 'limit' string */
        if (StringUtils.isBlank(this.whereStr)) {
            // add all
            Arrays.stream(WhereInGene.values()).forEach(C -> this.limitWhere.add(C));
        } else {
            for (final String ss : this.whereStr.split("[ \t,;]+")) {
                if (StringUtils.isBlank(ss))
                    continue;
                // gene and transcript expand to everything but intergenic
                if (ss.toLowerCase().equals("gene") || ss.toLowerCase().equals("transcript")) {
                    Arrays.stream(WhereInGene.values()).filter(C -> !C.equals(WhereInGene.intergenic)).forEach(C -> this.limitWhere.add(C));
                } else {
                    final WhereInGene g = Arrays.stream(WhereInGene.values()).filter(A -> A.name().equalsIgnoreCase(ss)).findFirst().orElseThrow(() -> new IllegalArgumentException("Bad identifier expected one of :" + Arrays.stream(WhereInGene.values()).map(X -> X.name()).collect(Collectors.joining(", "))));
                    this.limitWhere.add(g);
                }
            }
            if (this.limitWhere.isEmpty()) {
                LOG.error("--where option provided but no identifier was found.");
                return -1;
            }
        }
        final VCFFilterHeaderLine filterHeader;
        if (!StringUtils.isBlank(this.filterStr)) {
            filterHeader = new VCFFilterHeaderLine(this.filterStr, "variant failing locations: " + this.limitWhere.stream().map(V -> V.name()).collect(Collectors.joining(",")));
            h2.addMetaDataLine(filterHeader);
        } else {
            filterHeader = null;
        }
        h2.addMetaDataLine(new VCFInfoHeaderLine(this.info_tag, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Structural variant consequence."));
        JVarkitVersion.getInstance().addMetaData(this, h2);
        w.writeHeader(h2);
        while (r.hasNext()) {
            final VariantContext ctx = r.next();
            final int ctx_bnd_end;
            if (this.ignore_bnd_end && ctx.hasAttribute(VCFConstants.SVTYPE) && ctx.getAttributeAsString(VCFConstants.SVTYPE, "").equals("BND")) {
                ctx_bnd_end = ctx.getStart();
            } else {
                ctx_bnd_end = ctx.getEnd();
            }
            final Collection<Gene> genes = this.all_gene.getOverlapping(new Interval(ctx.getContig(), Math.max(1, ctx.getStart() - this.upstream_size), ctx_bnd_end + this.upstream_size));
            if (// intergenic
            genes.isEmpty()) {
                // discard anyway
                if (!this.limitWhere.contains(WhereInGene.intergenic) && filterHeader == null)
                    continue;
                Gene leftGene = null;
                for (final Gene g : this.all_gene.getOverlapping(new Interval(ctx.getContig(), 1, ctx.getStart()))) {
                    if (leftGene == null || leftGene.getEnd() < g.getEnd())
                        leftGene = g;
                }
                final String leftId = (leftGene == null ? "" : leftGene.getId());
                final String leftName = (leftGene == null ? "" : leftGene.getGeneName());
                Gene rightGene = null;
                for (final Gene g : this.all_gene.getOverlapping(new Interval(ctx.getContig(), ctx.getStart(), Integer.MAX_VALUE))) {
                    if (rightGene == null || rightGene.getStart() > g.getStart())
                        rightGene = g;
                }
                final String rightId = (rightGene == null ? "" : rightGene.getId());
                final String rightName = (rightGene == null ? "" : rightGene.getGeneName());
                final VariantContextBuilder vcb = new VariantContextBuilder(ctx);
                // FILTER
                if (!this.limitWhere.contains(WhereInGene.intergenic) && filterHeader != null) {
                    vcb.filter(filterHeader.getID());
                }
                if (!(leftGene == null && rightGene == null)) {
                    vcb.attribute(this.info_tag, "intergenic|" + leftId + "-" + rightId + "|" + leftName + "-" + rightName);
                }
                w.add(vcb.make());
            } else {
                final VariantContextBuilder vcb = new VariantContextBuilder(ctx);
                final List<List<Annotation>> annotations = genes.stream().map(G -> annotGene(G, ctx)).collect(Collectors.toList());
                final boolean match_user_filter = annotations.stream().flatMap(L -> L.stream()).flatMap(A -> A.where.stream()).anyMatch(A -> this.limitWhere.contains(A));
                if (!match_user_filter) {
                    if (filterHeader == null)
                        continue;
                    vcb.filter(filterHeader.getID());
                }
                if (this.max_genes_count != -1 && genes.size() > this.max_genes_count) {
                    final String prefix = annotations.stream().flatMap(L -> L.stream()).flatMap(A -> A.where.stream()).map(A -> A.name()).collect(Collectors.toCollection(TreeSet::new)).stream().collect(Collectors.joining("&"));
                    vcb.attribute(this.info_tag, (StringUtils.isBlank(prefix) ? "." : prefix) + "|multiple_genes|" + genes.size());
                } else {
                    final List<String> annots = annotations.stream().flatMap(L -> L.stream()).map(A -> A.where.stream().map(X -> X.name()).collect(Collectors.toCollection(TreeSet::new)).stream().collect(Collectors.joining("&")) + A.label).collect(Collectors.toSet()).stream().collect(Collectors.toList());
                    if (!annots.isEmpty())
                        vcb.attribute(this.info_tag, annots);
                }
                w.add(vcb.make());
            }
        }
        return 0;
    } catch (final Throwable err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(w);
    }
}

Example 8 with Transcript

use of com.github.lindenb.jvarkit.util.bio.structure.Transcript in project jvarkit by lindenb.

the class VCFPredictions method doVcfToVcf.

@Override
protected int doVcfToVcf(String inputName, VCFIterator r, VariantContextWriter w) {
    try {
        this.referenceGenome = ReferenceSequenceFileFactory.getReferenceSequenceFile(this.faidxPath);
        final SAMSequenceDictionary dict = SequenceDictionaryUtils.extractRequired(this.referenceGenome);
        final ContigNameConverter contigNameConverter = ContigNameConverter.fromOneDictionary(dict);
        loadGtf(dict);
        final VCFHeader header = r.getHeader();
        final VCFHeader h2 = new VCFHeader(header);
        JVarkitVersion.getInstance().addMetaData(this, h2);
        switch(this.outputSyntax) {
            case Vep:
                {
                    h2.addMetaDataLine(new VCFInfoHeaderLine("CSQ", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Consequence type as predicted by VEP" + ". Format: Allele|Feature|Feature_type|Consequence|CDS_position|Protein_position|Amino_acids|Codons"));
                    break;
                }
            case SnpEff:
                {
                    h2.addMetaDataLine(new VCFInfoHeaderLine("ANN", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Functional annotations: 'Allele | Annotation | Annotation_Impact | Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO'"));
                    break;
                }
            default:
                {
                    final StringBuilder format = new StringBuilder();
                    for (FORMAT1 f : FORMAT1.values()) {
                        if (format.length() > 0)
                            format.append("|");
                        format.append(f.name());
                    }
                    h2.addMetaDataLine(new VCFInfoHeaderLine(TAG, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Prediction from " + getClass().getSimpleName() + ". Format: " + format));
                    break;
                }
        }
        w.writeHeader(h2);
        final RNASequenceFactory rnaSeqFactory = new RNASequenceFactory();
        rnaSeqFactory.setContigToGenomicSequence(S -> getGenomicSequence(S));
        while (r.hasNext()) {
            final VariantContext ctx = r.next();
            final String normalizedContig = contigNameConverter.apply(ctx.getContig());
            if (StringUtil.isBlank(normalizedContig)) {
                w.add(ctx);
                continue;
            }
            final List<Transcript> transcripts = this.transcriptTreeMap.getOverlapping(new SimpleInterval(normalizedContig, ctx.getStart(), ctx.getEnd())).stream().flatMap(L -> L.stream()).collect(Collectors.toList());
            final List<Annotation> all_annotations = new ArrayList<>();
            final List<Allele> alternateAlleles;
            if (ctx.getNAlleles() <= 1) {
                // not a variant, just REF
                alternateAlleles = Arrays.asList(Allele.NO_CALL);
            } else {
                alternateAlleles = ctx.getAlternateAlleles();
            }
            for (final Allele altAllele : alternateAlleles) {
                if (altAllele.isReference() || altAllele.equals(Allele.SPAN_DEL) || altAllele.equals(Allele.NON_REF_ALLELE))
                    continue;
                /* intergenic ====================================================== */
                if (transcripts.isEmpty()) {
                    Transcript leftGene = null;
                    String leftId = "";
                    String leftName = "";
                    for (Iterator<Transcript> iter = this.transcriptTreeMap.getOverlapping(new SimpleInterval(normalizedContig, 1, ctx.getStart())).stream().flatMap(L -> L.stream()).iterator(); iter.hasNext(); ) {
                        final Transcript t = iter.next();
                        if (leftGene == null || leftGene.getEnd() < t.getEnd()) {
                            leftGene = t;
                            leftId = t.getGene().getId();
                            leftName = t.getGene().getGeneName();
                        }
                    }
                    Transcript rightGene = null;
                    String rightId = "";
                    String rightName = "";
                    for (Iterator<Transcript> iter = this.transcriptTreeMap.getOverlapping(new SimpleInterval(normalizedContig, ctx.getEnd(), dict.getSequence(normalizedContig).getSequenceLength())).stream().flatMap(L -> L.stream()).iterator(); iter.hasNext(); ) {
                        final Transcript t = iter.next();
                        if (rightGene == null || t.getStart() < rightGene.getStart()) {
                            rightGene = t;
                            rightId = t.getGene().getId();
                            rightName = t.getGene().getGeneName();
                        }
                    }
                    // intergenic
                    final Annotation annot = new Annotation(altAllele);
                    annot.seqont.add("intergenic");
                    annot.geneId = leftId + "-" + rightId;
                    annot.geneName = leftName + "-" + rightName;
                    all_annotations.add(annot);
                } else {
                    for (final Transcript transcript : transcripts) {
                        final Annotation annotation = new Annotation(altAllele, transcript);
                        all_annotations.add(annotation);
                        if (!transcript.overlaps(ctx)) {
                            if (((ctx.getEnd() < transcript.getStart() && transcript.isNegativeStrand()) || (ctx.getStart() > transcript.getEnd() && transcript.isPositiveStrand()))) {
                                if (ctx.withinDistanceOf(transcript, 500)) {
                                    annotation.seqont.add("500B_downstream_variant");
                                } else if (ctx.withinDistanceOf(transcript, 2_000)) {
                                    annotation.seqont.add("2KB_downstream_variant");
                                }
                            } else if (((ctx.getEnd() < transcript.getStart() && transcript.isPositiveStrand()) || (ctx.getStart() > transcript.getEnd() && transcript.isNegativeStrand()))) {
                                if (ctx.withinDistanceOf(transcript, 2_000)) {
                                    annotation.seqont.add("2KB_upstream_variant");
                                } else if (ctx.withinDistanceOf(transcript, 5_000)) {
                                    annotation.seqont.add("5KB_upstream_variant");
                                }
                            }
                            continue;
                        }
                        if (CoordMath.encloses(ctx.getStart(), ctx.getEnd(), transcript.getStart(), transcript.getEnd())) {
                            // TODO can be inversion ,etc...
                            annotation.seqont.add("transcript_ablation");
                            continue;
                        }
                        for (int side = 0; side < 2; ++side) {
                            final Optional<UTR> opt_utr = (side == 0 ? transcript.getTranscriptUTR5() : transcript.getTranscriptUTR3());
                            if (!opt_utr.isPresent())
                                continue;
                            final UTR utr = opt_utr.get();
                            if (CoordMath.overlaps(utr.getStart(), utr.getEnd(), ctx.getStart(), ctx.getEnd())) {
                                annotation.seqont.add(side == 0 ? "5_prime_UTR_variant" : "3_prime_UTR_variant");
                            }
                        }
                        for (int side = 0; side < 2; ++side) {
                            final Optional<? extends ExonOrIntron> opt_ex;
                            if (side == 0) {
                                opt_ex = transcript.getExons().stream().filter(E -> E.overlaps(ctx)).findFirst();
                            } else {
                                opt_ex = transcript.getIntrons().stream().filter(E -> E.overlaps(ctx)).findFirst();
                            }
                            if (!opt_ex.isPresent())
                                continue;
                            final ExonOrIntron ei = opt_ex.get();
                            if (side == 0) {
                                if (transcript.isNonCoding())
                                    annotation.seqont.add("non_coding_transcript_exon_variant");
                            } else {
                                if (transcript.isNonCoding())
                                    annotation.seqont.add("non_coding_transcript_intron_variant");
                                annotation.seqont.add("intron");
                            }
                            if (ctx.getStart() == ctx.getEnd() && ei.isSplicing(ctx.getStart())) {
                                if (ei.isSplicingAcceptor(ctx.getStart())) {
                                    // SPLICING_ACCEPTOR
                                    annotation.seqont.add("splice_acceptor");
                                } else if (ei.isSplicingDonor(ctx.getStart())) {
                                    // SPLICING_DONOR
                                    annotation.seqont.add("splice_donor");
                                } else // ??
                                {
                                    annotation.seqont.add("splicing_variant");
                                }
                            }
                        }
                        final StructuralVariantType svType = ctx.getStructuralVariantType();
                        if (svType != null) {
                            continue;
                        }
                        if (transcript.isNonCoding()) {
                            // TODO
                            annotation.seqont.add("non_coding_transcript_variant");
                            continue;
                        }
                        RNASequence cDNA = this.transcriptId2cdna.get(transcript.getId());
                        if (cDNA == null) {
                            cDNA = rnaSeqFactory.getCodingRNA(transcript);
                            this.transcriptId2cdna.put(transcript.getId(), cDNA);
                        }
                        final OptionalInt opt_pos_cdna0 = cDNA.convertGenomic0ToRnaIndex0(ctx.getStart() - 1);
                        if (!opt_pos_cdna0.isPresent())
                            continue;
                        final int pos_cdna0 = opt_pos_cdna0.getAsInt();
                        final int pos_aa = pos_cdna0 / 3;
                        final GeneticCode geneticCode = GeneticCode.getStandard();
                        if (AcidNucleics.isATGC(altAllele.getBaseString())) {
                            String bases = altAllele.getBaseString().toUpperCase();
                            if (transcript.isNegativeStrand()) {
                                bases = AcidNucleics.reverseComplement(bases);
                            }
                            final MutedSequence mutRNA = new MutedSequence(cDNA, pos_cdna0, ctx.getReference().length(), bases);
                            final PeptideSequence<CharSequence> wildProt = PeptideSequence.of(cDNA, geneticCode);
                            final PeptideSequence<CharSequence> mutProt = PeptideSequence.of(mutRNA, geneticCode);
                            final int mod = pos_cdna0 % 3;
                            annotation.wildCodon = ("" + cDNA.charAt(pos_cdna0 - mod + 0) + cDNA.charAt(pos_cdna0 - mod + 1) + cDNA.charAt(pos_cdna0 - mod + 2));
                            annotation.mutCodon = ("" + mutRNA.charAt(pos_cdna0 - mod + 0) + mutRNA.charAt(pos_cdna0 - mod + 1) + mutRNA.charAt(pos_cdna0 - mod + 2));
                            annotation.position_protein = (pos_aa + 1);
                            annotation.wildAA = String.valueOf(wildProt.charAt(pos_aa));
                            annotation.mutAA = (String.valueOf(mutProt.charAt(pos_aa)));
                            if (isStop(wildProt.charAt(pos_aa)) && !isStop(mutProt.charAt(pos_aa))) {
                                annotation.seqont.add("stop_lost");
                            } else if (!isStop(wildProt.charAt(pos_aa)) && isStop(mutProt.charAt(pos_aa))) {
                                annotation.seqont.add("stop_gained");
                            } else if (wildProt.charAt(pos_aa) == mutProt.charAt(pos_aa)) {
                                annotation.seqont.add("synonymous");
                            } else {
                                annotation.seqont.add("missense_variant");
                            }
                        }
                    }
                }
            }
            final Set<String> info = new HashSet<String>(all_annotations.size());
            for (final Annotation a : all_annotations) {
                info.add(a.toString());
            }
            final VariantContextBuilder vb = new VariantContextBuilder(ctx);
            final String thetag;
            switch(this.outputSyntax) {
                case Vep:
                    thetag = "CSQ";
                    break;
                case SnpEff:
                    thetag = "ANN";
                    break;
                default:
                    thetag = TAG;
                    break;
            }
            vb.attribute(thetag, info.toArray());
            w.add(vb.make());
        }
        return 0;
    } catch (final Throwable err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(w);
        CloserUtil.close(r);
        CloserUtil.close(this.referenceGenome);
    }
}

Example 9 with Transcript

use of com.github.lindenb.jvarkit.util.bio.structure.Transcript in project jvarkit by lindenb.

the class VCFPredictions method loadGtf.

private void loadGtf(final SAMSequenceDictionary dict) throws IOException {
    GtfReader in = null;
    try {
        this.transcriptTreeMap = new IntervalTreeMap<>();
        final ContigNameConverter contigNameConverter = ContigNameConverter.fromOneDictionary(dict);
        in = new GtfReader(this.gtfPath);
        in.setContigNameConverter(contigNameConverter);
        in.getAllGenes().stream().flatMap(G -> G.getTranscripts().stream()).filter(G -> G.hasCDS() && G.hasStrand()).forEach(g -> {
            // because we want to set
            final int extend_gene_search = 5000;
            // SO:5KB_upstream_variant
            final Interval interval = new Interval(g.getContig(), Math.max(1, g.getTxStart() + 1 - extend_gene_search), g.getTxEnd() + extend_gene_search);
            List<Transcript> L = this.transcriptTreeMap.get(interval);
            if (L == null) {
                L = new ArrayList<>(2);
                this.transcriptTreeMap.put(interval, L);
            }
            L.add(g);
        });
    } finally {
        CloserUtil.close(in);
    }
}

Example 10 with Transcript

use of com.github.lindenb.jvarkit.util.bio.structure.Transcript in project jvarkit by lindenb.

the class VcfBurdenGtf method runBurden.

@Override
protected void runBurden(PrintWriter pw, VCFReader vcfReader, VariantContextWriter vcw) throws IOException {
    final SAMSequenceDictionary vcfDict = SequenceDictionaryUtils.extractRequired(vcfReader.getHeader());
    final List<Gene> all_genes;
    try (GtfReader gtfReader = new GtfReader(this.gtfFile)) {
        gtfReader.setContigNameConverter(ContigNameConverter.fromOneDictionary(vcfDict));
        all_genes = gtfReader.getAllGenes().stream().filter(G -> StringUtil.isBlank(this.intergenic_contig) || this.intergenic_contig.equals("*") || this.intergenic_contig.equals(G.getContig())).sorted(new ContigDictComparator(vcfDict).createLocatableComparator()).collect(Collectors.toCollection(ArrayList::new));
    }
    pw.print("#chrom");
    pw.print("\t");
    pw.print("start0");
    pw.print("\t");
    pw.print("end");
    pw.print("\t");
    pw.print("name");
    pw.print("\t");
    pw.print("length");
    pw.print("\t");
    pw.print("gene");
    pw.print("\t");
    pw.print("type");
    pw.print("\t");
    pw.print("strand");
    pw.print("\t");
    pw.print("transcript");
    pw.print("\t");
    pw.print("gene-id");
    pw.print("\t");
    pw.print("intervals");
    pw.print("\t");
    pw.print("p-value");
    pw.print("\t");
    pw.print("affected_alt");
    pw.print("\t");
    pw.print("affected_hom");
    pw.print("\t");
    pw.print("unaffected_alt");
    pw.print("\t");
    pw.print("unaffected_hom");
    pw.print("\t");
    pw.print("variants.count");
    pw.println();
    final List<SimpleInterval> all_intergenic = new ArrayList<>();
    if (!StringUtil.isBlank(this.intergenic_contig)) {
        for (final SAMSequenceRecord ssr : vcfDict.getSequences()) {
            if (!(this.intergenic_contig.equals("*") || this.intergenic_contig.equals(ssr.getSequenceName())))
                continue;
            final BitSet filled = new BitSet(ssr.getSequenceLength() + 2);
            all_genes.stream().filter(G -> G.getContig().equals(ssr.getSequenceName())).forEach(G -> filled.set(G.getStart(), 1 + /* bit set is 0 based */
            Math.min(G.getEnd(), ssr.getSequenceLength())));
            int i = 1;
            while (i < ssr.getSequenceLength()) {
                if (filled.get(i)) {
                    i++;
                    continue;
                }
                int j = i;
                while (j < ssr.getSequenceLength() && !filled.get(j)) {
                    j++;
                }
                all_intergenic.add(new SimpleInterval(ssr.getSequenceName(), i, j));
                i = j + 1;
            }
            all_genes.removeIf(G -> G.getContig().equals(ssr.getSequenceName()));
        }
        all_genes.clear();
    }
    final ProgressFactory.Watcher<Gene> progress = ProgressFactory.newInstance().logger(LOG).dictionary(vcfDict).build();
    /* run genes */
    for (final Gene gene : all_genes) {
        progress.apply(gene);
        final IntervalTree<VariantContext> intervalTree = new IntervalTree<>();
        vcfReader.query(gene).stream().filter(V -> accept(V)).forEach(V -> intervalTree.put(V.getStart(), V.getEnd(), V));
        if (intervalTree.size() == 0)
            continue;
        for (final Transcript transcript : gene.getTranscripts()) {
            final List<SubPartOfTranscript> parts = new ArrayList<>();
            parts.addAll(transcript.getExons().stream().map(R -> new SubPartOfTranscript(R)).collect(Collectors.toList()));
            parts.addAll(transcript.getIntrons().stream().map(R -> new SubPartOfTranscript(R)).collect(Collectors.toList()));
            final int intron_window_size = 1000;
            final int intron_window_shift = 500;
            for (final Intron intron : transcript.getIntrons()) {
                if (intron.getLengthOnReference() <= intron_window_size)
                    continue;
                int start_pos = intron.getStart();
                while (start_pos + intron_window_size <= intron.getEnd()) {
                    int xend = Math.min(intron.getEnd(), start_pos + intron_window_size - 1);
                    int xstart = xend - intron_window_size - 1;
                    parts.add(new SubPartOfTranscript(transcript, intron.getName() + ".Sliding", Collections.singletonList(new SimpleInterval(intron.getContig(), xstart, xend))));
                    start_pos += intron_window_shift;
                }
            }
            for (final UTR utr : transcript.getUTRs()) {
                parts.add(new SubPartOfTranscript(transcript, utr.getName(), utr.getIntervals()));
            }
            if (transcript.getExonCount() > 1) {
                parts.add(new SubPartOfTranscript(transcript, "AllExons", transcript.getExons().stream().map(E -> E.toInterval()).collect(Collectors.toList())));
            }
            if (transcript.hasCodonStartDefined() && transcript.hasCodonStopDefined() && transcript.getAllCds().size() > 1) {
                parts.add(new SubPartOfTranscript(transcript, "AllCds", transcript.getAllCds().stream().map(E -> E.toInterval()).collect(Collectors.toList())));
            }
            final int L = transcript.getTranscriptLength();
            final int[] index2genomic = new int[L];
            int pos = 0;
            for (final Exon exon : transcript.getExons()) {
                for (int i = exon.getStart(); i <= exon.getEnd(); i++) {
                    index2genomic[pos] = i;
                    pos++;
                }
            }
            final int window_size = 200;
            final int window_shift = 100;
            int array_index = 0;
            while (array_index < index2genomic.length) {
                final List<Locatable> intervals = new ArrayList<>();
                int prev_pos = -1;
                int start_pos = index2genomic[array_index];
                int i = 0;
                while (i < window_size && array_index + i < index2genomic.length) {
                    final int curr_pos = index2genomic[array_index + i];
                    if (i > 0 && prev_pos + 1 != curr_pos) {
                        intervals.add(new SimpleInterval(transcript.getContig(), start_pos, prev_pos));
                        start_pos = curr_pos;
                    }
                    prev_pos = curr_pos;
                    i++;
                }
                intervals.add(new SimpleInterval(transcript.getContig(), start_pos, prev_pos));
                parts.add(new SubPartOfTranscript(transcript, "Sliding", intervals));
                array_index += window_shift;
            }
            for (final SubPartOfTranscript part : parts) {
                final List<VariantContext> variants = new ArrayList<>();
                for (final Locatable loc : part.intervals) {
                    Iterator<IntervalTree.Node<VariantContext>> iter = intervalTree.overlappers(loc.getStart(), loc.getEnd());
                    while (iter.hasNext()) variants.add(iter.next().getValue());
                }
                if (variants.isEmpty())
                    continue;
                final FisherResult fisher = runFisher(variants);
                if (fisher.p_value > this.fisherTreshold)
                    continue;
                if (vcw != null) {
                    for (final VariantContext ctx : variants) {
                        vcw.add(new VariantContextBuilder(ctx).attribute(BURDEN_KEY, VCFUtils.escapeInfoField(part.label)).make());
                    }
                }
                pw.print(part.getContig());
                pw.print("\t");
                pw.print(part.getStart() - 1);
                pw.print("\t");
                pw.print(part.getEnd());
                pw.print("\t");
                pw.print(part.label);
                pw.print("\t");
                pw.print(part.getLengthOnReference());
                pw.print("\t");
                pw.print(transcript.getProperties().getOrDefault("gene_name", "."));
                pw.print("\t");
                pw.print(transcript.getProperties().getOrDefault("transcript_type", "."));
                pw.print("\t");
                pw.print(gene.getStrand());
                pw.print("\t");
                pw.print(transcript.getId());
                pw.print("\t");
                pw.print(gene.getId());
                pw.print("\t");
                pw.print(part.intervals.stream().map(R -> String.valueOf(R.getStart()) + "-" + R.getEnd()).collect(Collectors.joining(";")));
                pw.print("\t");
                pw.print(fisher.p_value);
                pw.print("\t");
                pw.print(fisher.affected_alt);
                pw.print("\t");
                pw.print(fisher.affected_hom);
                pw.print("\t");
                pw.print(fisher.unaffected_alt);
                pw.print("\t");
                pw.print(fisher.unaffected_hom);
                pw.print("\t");
                pw.print(variants.size());
                pw.println();
            }
        }
    }
    progress.close();
    final ProgressFactory.Watcher<SimpleInterval> progress2 = ProgressFactory.newInstance().logger(LOG).dictionary(vcfDict).build();
    /**
     * scan intergenics ...
     */
    for (final SimpleInterval intergenic : all_intergenic) {
        progress2.apply(intergenic);
        final int intergenic_window_size = 2000;
        final int intergenic_window_shifr = 100;
        final List<SimpleInterval> parts = new ArrayList<>();
        if (intergenic.getLengthOnReference() <= intergenic_window_size)
            continue;
        int start_pos = intergenic.getStart();
        while (start_pos + intergenic_window_size <= intergenic.getEnd()) {
            int xend = Math.min(intergenic.getEnd(), start_pos + intergenic_window_size - 1);
            int xstart = xend - intergenic_window_size - 1;
            parts.add(new SimpleInterval(intergenic.getContig(), xstart, xend));
            start_pos += intergenic_window_shifr;
        }
        for (final SimpleInterval part : parts) {
            final List<VariantContext> variants = vcfReader.query(part).stream().filter(V -> accept(V)).collect(Collectors.toList());
            if (variants.isEmpty())
                continue;
            final FisherResult fisher = runFisher(variants);
            if (fisher.p_value > this.fisherTreshold)
                continue;
            final String label = "intergenic_" + part.getStart() + "_" + part.getEnd();
            if (vcw != null) {
                for (final VariantContext ctx : variants) {
                    vcw.add(new VariantContextBuilder(ctx).attribute(BURDEN_KEY, VCFUtils.escapeInfoField(label)).make());
                }
            }
            pw.print(part.getContig());
            pw.print("\t");
            pw.print(part.getStart() - 1);
            pw.print("\t");
            pw.print(part.getEnd());
            pw.print("\t");
            pw.print(label);
            pw.print("\t");
            pw.print(part.getLengthOnReference());
            pw.print("\t");
            pw.print(".");
            pw.print("\t");
            pw.print("intergenic");
            pw.print("\t");
            pw.print(".");
            pw.print("\t");
            pw.print(".");
            pw.print("\t");
            pw.print(".");
            pw.print("\t");
            pw.print("" + part.getStart() + "-" + part.getEnd());
            pw.print("\t");
            pw.print(fisher.p_value);
            pw.print("\t");
            pw.print(fisher.affected_alt);
            pw.print("\t");
            pw.print(fisher.affected_hom);
            pw.print("\t");
            pw.print(fisher.unaffected_alt);
            pw.print("\t");
            pw.print(fisher.unaffected_hom);
            pw.print("\t");
            pw.print(variants.size());
            pw.println();
        }
    }
    progress2.close();
}