EBIvariation / vcf-validator

Validation suite for Variant Call Format (VCF) files, implemented using C++11
Apache License 2.0
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EVA-152 Support gVCF files #86

Closed cyenyxe closed 6 years ago

cyenyxe commented 6 years ago

VCF v4.3 introduces in section 5.5 a way to represent unspecified alleles and REF-only blocks (blocks that don't have any variants). A symbolic alternate allele \<*> is used to represent this unspecified alternate allele, as in:

#CHROM   POS    ID   REF   ALT     QUAL   FILTER   INFO       FORMAT     Sample
1        4370   .    G     <*>     .      .        END=4383   GT:DP:GQ   0/0:25:60
1        4384   .    C     <*>     .      .        END=4388   GT:DP:GQ   0/0:25:45
1        4389   .    T     TC,<*>  213.73 .       .           GT:DP:GQ   0/1:23:99
1        4390   .    C     <*>     .      .        END=4390   GT:DP:GQ   0/0:26:0

Note that it is possible to specify the \<*> allele in every variant (see 1:4389) but the specification doesn't indicate it is mandatory.