/* The MIT License (MIT) Copyright (c) 2014 Pierre Lindenbaum Permission is hereby granted, free of charge, to any person obtaining a copy of this software and associated documentation files (the "Software"), to deal in the Software without restriction, including without limitation the rights to use, copy, modify, merge, publish, distribute, sublicense, and/or sell copies of the Software, and to permit persons to whom the Software is furnished to do so, subject to the following conditions: The above copyright notice and this permission notice shall be included in all copies or substantial portions of the Software. THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE SOFTWARE. History: * 2014 creation */ package com.github.lindenb.jvarkit.tools.vcfcmp; import java.io.File; import java.util.ArrayList; import java.util.Comparator; import java.util.HashSet; import java.util.Iterator; import java.util.List; import java.util.Set; import com.beust.jcommander.Parameter; import com.github.lindenb.jvarkit.util.jcommander.Launcher; import com.github.lindenb.jvarkit.util.jcommander.Program; import com.github.lindenb.jvarkit.util.log.Logger; import com.github.lindenb.jvarkit.util.picard.SAMSequenceDictionaryProgress; import com.github.lindenb.jvarkit.util.vcf.TabixVcfFileReader; import com.github.lindenb.jvarkit.util.vcf.VCFUtils; import com.github.lindenb.jvarkit.util.vcf.VcfIterator; import htsjdk.variant.variantcontext.Allele; import htsjdk.variant.variantcontext.VariantContext; import htsjdk.variant.variantcontext.VariantContextBuilder; import htsjdk.variant.variantcontext.writer.VariantContextWriter; import htsjdk.variant.vcf.VCFFilterHeaderLine; import htsjdk.variant.vcf.VCFHeader; import htsjdk.samtools.SAMSequenceDictionary; import htsjdk.samtools.util.CloserUtil; /** BEGIN_DOC VCF files should be sorted using the same order as the sequence dictionary (see picard SortVcf). ### Example list variants found with gatk AND samtools, keep the variants with http://www.sequenceontology.org/browser/current_release/term/SO:0001818 , remove variants found in a previous alignment (samtools or gatk) ``` #!/bin/bash ls Samples | while read S do gunzip -c NEWALIGN/{S}.gatk.vcf.gz |\ java -jar jvarkit-git/dist/vcffilterso.jar -A SO:0001818 |\ java -jar jvarkit-git/dist/vcfin.jar NEWALIGN/{S}.samtools.vcf.gz |\ java -jar jvarkit-git/dist/vcfin.jar -i OLDALIGN/{S}.samtools.vcf.gz | java -jar jvarkit-git/dist/vcfin.jar -i OLDALIGN/${S}.gatk.vcf.gz | grep -vE '^#' | awk -v S=${S} -F ' ' '{printf("%s\t%s\t%s\t%s\t%s\t%s\t%s\n",S,$1,$2,$3,$4,$5,$8);}' done ``` #### Example 2 My list of bad variants is in the file 'bad.vcf'. ``` ##fileformat=VCFv4.2 ##contig=<ID=1,length=249250621,assembly=b37> ##contig=<ID=22,length=51304566,assembly=b37> #CHROM POS ID REF ALT QUAL FILTER INFO 1 11167517 . G A . . . 1 11167760 . C T . . . 1 11168529 . A G . . . 1 11169789 . A G . . . 1 11174331 . T C . . . 1 11174715 . T C . . . 1 11180949 . C T . . . ``` My main vcf file is 'input.vcf'. ``` ##fileformat=VCFv4.2 ##contig=<ID=1,length=249250621,assembly=b37> ##contig=<ID=22,length=51304566,assembly=b37> #CHROM POS ID REF ALT QUAL FILTER INFO 1 11166480 . C T . . . 1 11166541 . G C . . . 1 11166577 . C T . . . 1 11166713 . T C . . . 1 11167146 . G A . . . 1 11167158 . C T . . . 1 11167270 . G T . . . 1 11167517 . G T . . . 1 11167627 . G C . . . 1 11167760 . C T . . . 1 11167829 . C T . . . 1 11168529 . A G . . . 1 11168769 . CAAA C . . . 1 11169250 . G A . . . 1 11169420 . G A . . . 1 11169440 . A G . . . 1 11169585 . A G . . . 1 11169624 . T C . . . ``` I want to put a FILTER in the variants if they are contained in VCF. ``` java -jar dist/vcfin.jar -A -fi InMyListOfBadVariants jeter2.vcf jeter1.vcf ``` output: ``` ##fileformat=VCFv4.2 ##FILTER=<ID=InMyListOfBadVariants,Description="Variant overlapping database."> ##contig=<ID=1,length=249250621,assembly=b37> ##contig=<ID=22,length=51304566,assembly=b37> #CHROM POS ID REF ALT QUAL FILTER INFO 1 11166480 . C T . . . 1 11166541 . G C . . . 1 11166577 . C T . . . 1 11166713 . T C . . . 1 11167146 . G A . . . 1 11167158 . C T . . . 1 11167270 . G T . . . 1 11167517 . G T . . . 1 11167627 . G C . . . 1 11167760 . C T . InMyListOfBadVariants . 1 11167829 . C T . . . 1 11168529 . A G . InMyListOfBadVariants . 1 11168769 . CAAA C . . . 1 11169250 . G A . . . 1 11169420 . G A . . . 1 11169440 . A G . . . 1 11169585 . A G . . . 1 11169624 . T C . . . ``` Please not that variant 1 11167517 is not flagged because is alternate allele is not contained in 'bad.vcf' ### History * 2015-02-24: rewritten. all files must be sorted: avoid to sort on disk. Support for tabix. Option -A * 2015-01-26: changed option '-v' to option '-i' (-v is for version) * 2014: Creation END_DOC */ @Program(name="vcfin",description="Only prints variants that are contained/not contained into another VCF.") public class VcfIn extends Launcher { private static final Logger LOG = Logger.build(VcfIn.class).make(); @Parameter(names={"-o","--output"},description="Output file. Optional . Default: stdout") private File outputFile = null; @Parameter(names={"-i","--inverse"},description="Print variant that are not part of the VCF-database.") private boolean inverse = false; @Parameter(names={"-t","--tabix"},description="Database is Tabix-ed") private boolean databaseIsTabix = false; @Parameter(names={"-A","--allalt"},description="ALL user ALT must be found in VCF-database ALT") private boolean userAltInDatabase = false; @Parameter(names={"-fi","--filterin"},description="Do not discard variant but add this FILTER if the variant is found in the database") private String filterIn = ""; @Parameter(names={"-fo","--filterout"},description="Do not discard variant but add this FILTER if the variant is NOT found in the database") private String filterOut = ""; public VcfIn() { } private boolean allUserAltFoundInDatabase( final VariantContext userVariants, final VariantContext databaseVariants ) { if(!this.userAltInDatabase) return true; final Set<Allele> user_alts=new HashSet<Allele>(userVariants.getAlternateAlleles()); user_alts.removeAll(databaseVariants.getAlternateAlleles()); return user_alts.isEmpty(); } @Override protected VCFHeader addMetaData(VCFHeader header) { if(!this.filterIn.isEmpty()) { header.addMetaDataLine(new VCFFilterHeaderLine(this.filterIn, "Variant overlapping database.")); } if(!this.filterOut.isEmpty()) { header.addMetaDataLine(new VCFFilterHeaderLine(this.filterOut, "Variant non overlapping database.")); } return super.addMetaData(header); } private void addVariant(final VariantContextWriter w,final VariantContext ctx,boolean keep) { if(this.inverse) keep=!keep; if(!this.filterIn.isEmpty()) { if(keep){ final VariantContextBuilder vcb=new VariantContextBuilder(ctx); vcb.filter(this.filterIn); w.add(vcb.make()); } else { w.add(ctx); } } else if(!this.filterOut.isEmpty()) { if(keep){ w.add(ctx); } else { final VariantContextBuilder vcb=new VariantContextBuilder(ctx); vcb.filter(this.filterOut); w.add(vcb.make()); } } else { if(keep) { w.add(ctx); } else { /* don't print */ } } } private int scanFileSorted( final VariantContextWriter vcw, final String databaseVcfUri, final VcfIterator userVcfIn ) { EqualRangeVcfIterator equalRangeDbIter=null; try { final VCFHeader header = new VCFHeader(userVcfIn.getHeader()); final SAMSequenceDictionary userVcfDict = header.getSequenceDictionary(); /// NO need if(dict1==null) if(userVcfDict==null) { LOG.error("NO SAM sequence Dict in user VCF"); return -1; } final Comparator<VariantContext> vcfComparator = VCFUtils.createTidPosComparator(userVcfDict) ; equalRangeDbIter = new EqualRangeVcfIterator( VCFUtils.createVcfIterator(databaseVcfUri),vcfComparator); this.addMetaData(header); vcw.writeHeader(header); final SAMSequenceDictionaryProgress progress = new SAMSequenceDictionaryProgress(userVcfDict); while(userVcfIn.hasNext()) { final VariantContext ctx = progress.watch(userVcfIn.next()); //fill both contextes final List<VariantContext> dbContexes = new ArrayList<VariantContext>(equalRangeDbIter.next(ctx)); int i=0; while(i< dbContexes.size()) { if( dbContexes.get(i).getReference().equals(ctx.getReference()) && allUserAltFoundInDatabase(ctx, dbContexes.get(i))) { ++i; } else { dbContexes.remove(i); } } final boolean keep=!dbContexes.isEmpty(); addVariant(vcw,ctx,keep); if(vcw.checkError()) break; } return RETURN_OK; } catch(Exception err) { LOG.error(err); return -1; } finally { CloserUtil.close(equalRangeDbIter); CloserUtil.close(userVcfIn); CloserUtil.close(vcw); } } /* public for knime */ private int scanUsingTabix(final VariantContextWriter vcw,final String databaseVcfUri,final VcfIterator in2) { TabixVcfFileReader tabix=null; try { LOG.info("opening "+databaseVcfUri+" as tabix"); tabix = new TabixVcfFileReader(databaseVcfUri); final VCFHeader header1= new VCFHeader(in2.getHeader()); this.addMetaData(header1); vcw.writeHeader(header1); final SAMSequenceDictionaryProgress progress=new SAMSequenceDictionaryProgress(header1.getSequenceDictionary()); while(in2.hasNext() && !vcw.checkError()) { final VariantContext userCtx= progress.watch(in2.next()); final Iterator<VariantContext> iter= tabix.iterator(userCtx.getContig(), Math.max(1,userCtx.getStart()-1), userCtx.getEnd()+1); boolean keep=false; while(iter.hasNext()) { final VariantContext dbctx= iter.next(); if(! dbctx.getContig().equals(userCtx.getContig())) continue; if(dbctx.getStart()!=userCtx.getStart()) continue; if(! dbctx.getReference().equals(userCtx.getReference())) continue; if(!allUserAltFoundInDatabase(userCtx, dbctx)) continue; keep=true; break; } addVariant(vcw,userCtx,keep); if(vcw.checkError()) break; } progress.finish(); return RETURN_OK; } catch(Exception err) { LOG.error(err); return -1; } finally { CloserUtil.close(tabix); CloserUtil.close(in2); } } @Override public int doWork(final List<String> args) { if(!this.filterIn.isEmpty() && !this.filterOut.isEmpty()) { LOG.error("Option filterIn/filterOut both defined."); return -1; } if(this.inverse && (!this.filterIn.isEmpty() || !this.filterOut.isEmpty())) { LOG.error("Option inverse cannot be used when Option filterin/filterou is defined."); return -1; } String databaseVcfUri; String userVcfUri; if(args.size()==1) { databaseVcfUri = args.get(0); userVcfUri =null; } else if(args.size()==2) { databaseVcfUri = args.get(0); userVcfUri = args.get(1); } else { LOG.error("illegal.number.of.arguments"); return -1; } VariantContextWriter w=null; VcfIterator in=null; try { in = (userVcfUri==null? VCFUtils.createVcfIteratorFromInputStream(stdin()): VCFUtils.createVcfIterator(userVcfUri) ); w= super.openVariantContextWriter(outputFile); if(this.databaseIsTabix) { return this.scanUsingTabix(w,databaseVcfUri, in); } else { return this.scanFileSorted(w,databaseVcfUri, in); } } catch (Exception err) { LOG.error(err); return -1; } finally { CloserUtil.close(in); CloserUtil.close(w); } } public static void main(String[] args) { new VcfIn().instanceMainWithExit(args); } }