70d4208efa11f262ba5591198214c9ccdc6b54ae angie Mon Aug 22 22:24:05 2011 -0700 Feature #3707 (VCF+tabix support in hgTables):Basic hgTables support for VCF, modeled after BAM code. Tested all fields, selected fields, bed output; filter, intersection, schema on 3 flavors of vcfTabix: ftp://ftp-trace.ncbi.nih.gov/1000genomes/ftp/release/20101123/interim_phase1_release/ALL.chr17.phase1.projectConsensus.genotypes.vcf.gz ftp://ftp-trace.ncbi.nlm.nih.gov/1000genomes/ftp/release/20100804/AFR.dindel.20100804.sites.vcf.gz ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606/VCF/v4.0/ByChromosomeNoGeno/00-All.vcf.gz diff --git src/inc/vcf.h src/inc/vcf.h index 2cd150a..f63a309 100644 --- src/inc/vcf.h +++ src/inc/vcf.h @@ -1,218 +1,218 @@ /* VCF: Variant Call Format, version 4.0 / 4.1 * http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-40 * http://www.1000genomes.org/wiki/Analysis/Variant%20Call%20Format/vcf-variant-call-format-version-41 * The vcfFile object borrows many memory handling and error reporting tricks from MarkD's * gff3File; any local deficiencies are not to reflect poorly on Mark's fine work! :) */ #ifndef vcf_h #define vcf_h #include "hash.h" #include "linefile.h" enum vcfInfoType /* VCF header defines INFO column components; each component has one of these types: */ { vcfInfoNoType, // uninitialized value (0) or unrecognized type name vcfInfoInteger, vcfInfoFloat, vcfInfoFlag, vcfInfoCharacter, vcfInfoString, }; union vcfDatum /* Container for a value whose type is specified by an enum vcfInfoType. */ { int datInt; double datFloat; boolean datFlag; char datChar; char *datString; }; struct vcfInfoDef /* Definition of INFO column component from VCF header: */ { struct vcfInfoDef *next; char *key; // A short identifier, e.g. MQ for mapping quality int fieldCount; // The number of values to follow the id, or -1 if it varies enum vcfInfoType type; // The type of values that follow the id char *description; // Brief description of info }; struct vcfInfoElement /* A single INFO column component; each row's INFO column may contain multiple components. */ { char *key; // An identifier described by a struct vcfInfoDef int count; // Number of data values following id union vcfDatum *values; // Array of data values following id }; struct vcfGenotype /* A single component of the optional GENOTYPE column. */ { char *id; // Name of individual/sample (pointer to vcfFile genotypeIds) or . unsigned char hapIxA; // Index of one haplotype's allele: 0=reference, 1=alt, 2=other alt unsigned char hapIxB; // Index of other haplotype's allele bool isPhased; // True if haplotypes are phased bool isHaploid; // True if there is only one haplotype (e.g. chrY) int infoCount; // Number of components named in FORMAT column struct vcfInfoElement *infoElements; // Array of info components }; struct vcfRecord /* A VCF data row (or list of rows). */ { struct vcfRecord *next; char *chrom; // Reference assembly sequence name unsigned int chromStart; // Start offset in chrom unsigned int chromEnd; // End offset in chrom char *name; // Variant name from ID column int alleleCount; // Number of alleles (reference + alternates) char **alleles; // Alleles: reference first then alternate alleles char *qual; // . or Phred-scaled score, i.e. -10log_10 P(call in ALT is wrong) int filterCount; // Number of ;-separated filter codes in FILTER column char **filters; // Code(s) described in header for failed filters (or PASS or .) int infoCount; // Number of components of INFO column struct vcfInfoElement *infoElements; // Array of INFO column components char *format; // Optional column containing ordered list of genotype components char **genotypeUnparsedStrings; // Temporary array of unparsed optional genotype columns struct vcfGenotype *genotypes; // If built, array of parsed genotype components; // call vcfParseGenotypes(record) to build. struct vcfFile *file; // Pointer back to parent vcfFile }; struct vcfFile /* Info extracted from a VCF file. Manages all memory for contents. * Clearly borrowing structure from MarkD's gff3File. :) */ { char *fileOrUrl; // VCF local file path or URL - struct hash *metaDataHash; // Store all header metadata lines here + char *headerString; // Complete original header including newlines. int majorVersion; // 4 etc. int minorVersion; // 0, 1 etc. struct vcfInfoDef *infoDefs; // Header's definitions of INFO column components struct vcfInfoDef *filterDefs; // Header's definitions of FILTER column failure codes struct vcfInfoDef *altDefs; // Header's defs of symbolic alternate alleles (e.g. DEL, INS) struct vcfInfoDef *gtFormatDefs; // Header's defs of GENOTYPE compnts. listed in FORMAT col. int genotypeCount; // Number of optional genotype columns described in header char **genotypeIds; // Array of optional genotype column names described in header struct vcfRecord *records; // VCF data rows, sorted by position struct hash *byName; // Hash records by name -- not populated until needed. struct hash *pool; // Used to allocate string values that tend to // be repeated in the files. hash's localMem is also // use to allocated memory for all other objects. struct lineFile *lf; // Used only during parsing int maxErr; // Maximum number of errors before aborting int errCnt; // Error count }; /* Reserved but optional INFO keys: */ extern const char *vcfInfoAncestralAllele; extern const char *vcfInfoPerAlleleGtCount; // allele count in genotypes, for each ALT allele, // in the same order as listed extern const char *vcfInfoAlleleFrequency; // allele frequency for each ALT allele in the same // order as listed: use this when estimated from // primary data, not called genotypes extern const char *vcfInfoNumAlleles; // total number of alleles in called genotypes extern const char *vcfInfoBaseQuality; // RMS base quality at this position extern const char *vcfInfoCigar; // cigar string describing how to align an // alternate allele to the reference allele extern const char *vcfInfoIsDbSnp; // dbSNP membership extern const char *vcfInfoDepth; // combined depth across samples, e.g. DP=154 extern const char *vcfInfoEnd; // end position of the variant described in this // record (esp. for CNVs) extern const char *vcfInfoIsHapMap2; // membership in hapmap2 extern const char *vcfInfoIsHapMap3; // membership in hapmap3 extern const char *vcfInfoIs1000Genomes; // membership in 1000 Genomes extern const char *vcfInfoMappingQuality; // RMS mapping quality, e.g. MQ=52 extern const char *vcfInfoMapQual0Count; // number of MAPQ == 0 reads covering this record extern const char *vcfInfoNumSamples; // Number of samples with data extern const char *vcfInfoStrandBias; // strand bias at this position extern const char *vcfInfoIsSomatic; // indicates that the record is a somatic mutation, // for cancer genomics extern const char *vcfInfoIsValidated; // validated by follow-up experiment /* Reserved but optional per-genotype keys: */ extern const char *vcfGtGenotype; // numeric allele values separated by "/" (unphased) // or "|" (phased). Allele values are 0 for // reference allele, 1 for the first allele in ALT, // 2 for the second allele in ALT and so on. extern const char *vcfGtDepth; // read depth at this position for this sample extern const char *vcfGtFilter; // analogous to variant's FILTER field extern const char *vcfGtLikelihoods; // three floating point log10-scaled likelihoods for // AA,AB,BB genotypes where A=ref and B=alt; // not applicable if site is not biallelic. extern const char *vcfGtPhred; // Phred-scaled genotype likelihoods rounded to closest int extern const char *vcfGtConditionalQual; // Conditional genotype quality // i.e. phred quality -10log_10 P(genotype call is wrong, // conditioned on the site's being variant) extern const char *vcfGtHaplotypeQualities; // Two phred qualities comma separated extern const char *vcfGtPhaseSet; // Set of phased genotypes to which this genotype belongs extern const char *vcfGtPhasingQuality; // Phred-scaled P(alleles ordered wrongly in heterozygote) extern const char *vcfGtExpectedAltAlleleCount; // Typically used in association analyses INLINE void vcfPrintDatum(FILE *f, const union vcfDatum datum, const enum vcfInfoType type) /* Print datum to f in the format determined by type. */ { switch (type) { case vcfInfoInteger: fprintf(f, "%d", datum.datInt); break; case vcfInfoFloat: fprintf(f, "%f", datum.datFloat); break; case vcfInfoFlag: fprintf(f, "%s", datum.datString); // Flags could have values in older VCF break; case vcfInfoCharacter: fprintf(f, "%c", datum.datChar); break; case vcfInfoString: fprintf(f, "%s", datum.datString); break; default: errAbort("vcfPrintDatum: Unrecognized type %d", type); break; } } struct vcfFile *vcfFileMayOpen(char *fileOrUrl, int maxErr); /* Parse a VCF file into a vcfFile object; return NULL if unable. * If maxErr not zero, then continue to parse until this number of error have been reached. * A maxErr less than zero does not stop and reports all errors. */ struct vcfFile *vcfTabixFileMayOpen(char *fileOrUrl, char *chrom, int start, int end, int maxErr); /* Parse header and rows within the given position range from a VCF file that has been * compressed and indexed by tabix into a vcfFile object; return NULL if or if file has * no items in range. * If maxErr not zero, then continue to parse until this number of error have been reached. * A maxErr less than zero does not stop and reports all errors. */ void vcfFileFree(struct vcfFile **vcffPtr); /* Free a vcfFile object. */ const struct vcfRecord *vcfFileFindVariant(struct vcfFile *vcff, char *variantId); /* Return all records with name=variantId, or NULL if not found. */ const struct vcfInfoElement *vcfRecordFindInfo(const struct vcfRecord *record, char *key); /* Find an INFO element, or NULL. */ struct vcfInfoDef *vcfInfoDefForKey(struct vcfFile *vcff, const char *key); /* Return infoDef for key, or NULL if it wasn't specified in the header or VCF spec. */ void vcfParseGenotypes(struct vcfRecord *record); /* Translate record->genotypesUnparsedStrings[] into proper struct vcfGenotype[]. * This destroys genotypesUnparsedStrings. */ const struct vcfGenotype *vcfRecordFindGenotype(struct vcfRecord *record, char *sampleId); /* Find the genotype and associated info for the individual, or return NULL. * This calls vcfParseGenotypes if it has not already been called. */ struct vcfInfoDef *vcfInfoDefForGtKey(struct vcfFile *vcff, const char *key); /* Look up the type of genotype FORMAT component key, in the definitions from the header, * and failing that, from the keys reserved in the spec. */ #endif // vcf_h