3640a4d6b3303a6bebc7c5b2fc5abcf7f4fae0b2 angie Wed Sep 28 11:56:00 2016 -0700 Partial support for changes in VCF4.2 and latest samtools mpileup output: - Tolerate 'Number=R' and new INFO attributes Source and Version - Tolerate mpileup's '<X>' alt (no alternate allele was observed) - The 4.3 spec includes '<*>' from gVCF, also meaning no alt al obsvd. - GT is no longer required; user's example has PL instead, so parse that into genotypes. - hgVai now annotates "variants" with <X> and <*> as no_sequence_alteration - annoFormatVep now uses html encoding for html output in various places so that "<X>" is displayed properly (custom track labels and various item names could also have undesirable characters). I am not encoding the extras' descriptions because those are internal and some have <a>'s. refs #15625 diff --git src/hg/lib/variant.c src/hg/lib/variant.c index e194c46..c1ddf93 100644 --- src/hg/lib/variant.c +++ src/hg/lib/variant.c @@ -1,148 +1,150 @@ /* variant.c -- routines to convert other variant formats to a generic * variant structure */ /* Copyright (C) 2014 The Regents of the University of California * See README in this or parent directory for licensing information. */ #include "common.h" #include "annoRow.h" #include "variant.h" struct allele *alleleClip(struct allele *allele, int sx, int ex, struct lm *lm) /* Return new allele pointing to new variant, both clipped to region defined by [sx,ex). */ { struct variant *oldVariant = allele->variant; int start = oldVariant->chromStart; int end = oldVariant->chromEnd; int delFront = 0; int delRear = 0; if (start < sx) { delFront = min(sx - start, allele->length); start = sx; } if (end > ex) { delRear = min(end - ex, allele->length - delFront); end = ex; } struct variant *newVariant; lmAllocVar(lm, newVariant); newVariant->chrom = lmCloneString(lm, oldVariant->chrom); newVariant->chromStart = start; newVariant->chromEnd = end; newVariant->numAlleles = 1; struct allele *newAllele; lmAllocVar(lm, newAllele); newVariant->alleles = newAllele; newAllele->variant = newVariant; newAllele->length = allele->length - delRear - delFront; assert(newAllele->length >= 0); newAllele->sequence = lmCloneString(lm, &allele->sequence[delFront]); newAllele->sequence[newAllele->length] = 0; // cut off delRear part return newAllele; } static boolean isDash(char *string) /* Return TRUE if the only char in string is '-' * (possibly repeated like the darn pgVenter alleles). */ { char *p; for (p = string; p != NULL && *p != '\0'; p++) if (*p != '-') return FALSE; return TRUE; } struct variant *variantNew(char *chrom, unsigned start, unsigned end, unsigned numAlleles, char *slashSepAlleles, char *refAllele, struct lm *lm) /* Create a variant from basic information that is easy to extract from most other variant * formats: coords, allele count, string of slash-separated alleles and reference allele. */ { struct variant *variant; // We have a new variant! lmAllocVar(lm, variant); variant->chrom = lmCloneString(lm, chrom); variant->chromStart = start; variant->chromEnd = end; variant->numAlleles = numAlleles; // get the alleles. char *nextAlleleString = lmCloneString(lm, slashSepAlleles); int alleleNumber = 0; for( ; alleleNumber < numAlleles; alleleNumber++) { if (nextAlleleString == NULL) errAbort("number of alleles in /-separated string doesn't match numAlleles"); char *thisAlleleString = nextAlleleString; // advance pointer to next variant string // probably there's some kent routine to do this behind the curtain nextAlleleString = strchr(thisAlleleString, '/'); if (nextAlleleString) // null out '/' and move to next char { *nextAlleleString = 0; nextAlleleString++; } boolean isRefAllele = (sameWord(thisAlleleString, refAllele) || - (isEmpty(refAllele) && sameString(thisAlleleString, "-"))); + (isEmpty(refAllele) && sameString(thisAlleleString, "-")) || + sameString(thisAlleleString, "<X>") || // samtools mpileup no variation + sameString(thisAlleleString, "<*>")); // gVCF no variation int alleleStringLength = strlen(thisAlleleString); if (isDash(thisAlleleString)) { alleleStringLength = 0; thisAlleleString[0] = '\0'; } // we have a new allele! struct allele *allele; lmAllocVar(lm, allele); slAddHead(&variant->alleles, allele); allele->variant = variant; allele->length = alleleStringLength; allele->sequence = lmCloneString(lm, thisAlleleString); allele->isReference = isRefAllele; } slReverse(&variant->alleles); return variant; } struct variant *variantFromPgSnpAnnoRow(struct annoRow *row, char *refAllele, struct lm *lm) /* Translate pgSnp annoRow into variant (allocated by lm). */ { struct pgSnp pgSnp; pgSnpStaticLoad(row->data, &pgSnp); return variantNew(pgSnp.chrom, pgSnp.chromStart, pgSnp.chromEnd, pgSnp.alleleCount, pgSnp.name, refAllele, lm); } struct variant *variantFromVcfAnnoRow(struct annoRow *row, char *refAllele, struct lm *lm, struct dyString *dyScratch) /* Translate vcf array of words into variant (allocated by lm, overwriting dyScratch * as temporary scratch string). */ { char **words = row->data; char *alStr = vcfGetSlashSepAllelesFromWords(words, dyScratch); // The reference allele is the first allele in alStr -- and it may be trimmed on both ends with // respect to the raw VCF ref allele in words[3], so copy vcfRefAllele back out of alStr. // That ensures that variantNew will get the reference allele that matches the slash-separated // allele string. int refLen = strlen(alStr); char *p = strchr(alStr, '/'); if (p) refLen = p - alStr; char vcfRefAllele[refLen + 1]; safencpy(vcfRefAllele, sizeof(vcfRefAllele), alStr, refLen); unsigned alCount = countChars(alStr, '/') + 1; return variantNew(row->chrom, row->start, row->end, alCount, alStr, vcfRefAllele, lm); }