Table 2:
Flags and parameters used in INFO field of VCF files in various HapMap 3 versions
Parameter | 3.1.1 | 3.2.1 unimp | 3.2.1 imp | Description |
---|---|---|---|---|
DP | + | + | + | Total read depth at the site |
NZ | + | + | + | Number of taxa with called genotypes |
AD | + | + | + | Allelic depths (reference, alternative in order listed in ALT field) |
AC | + | + | + | Numbers of alternative alleles in order listed in ALT field |
AQ | + | + | + | Average allele base qualities (reference, alternative in order listed in ALT field) computed in HapMap 3.1.1 from 916 taxa |
GN | + | + | + | Numbers of genotypes (AA,AB,BB or AA,AB,AC,BB,BC,CC if 2 alt alleles present) |
HT | + | + | + | Number of heterozygotes |
EF | + | + | + | EF = het_frequency/(presence_frequency*minor_allele_frequency); computed in HapMap 3.1.1 from 916 taxa |
PV | + | + | + | P-value from segregation test, computed in HapMap 3.1.1 from 916 taxa |
MAF | + | + | + | Minor allele frequency (summed up over all alternative alleles) |
MAF0 | - | - | + | Minor allele frequency in unimputed HapMap 3.2.1 |
FH | + | - | - | Fraction of heterozygous taxa among the 506 taxa with more than 50% nonmissing genotypes on chr 10 |
FH2 | + | Site with FH greater than 2% | ||
IBD1 | + | + | + | Only 1 allele present in IBD contrasts—based on 916 taxa of HapMap 3.1.1 |
LLD | + | + | + | Site in local LD with GBS map—based on 916 taxa of HapMap 3.1.1 |
NI5 | + | + | + | Indel or site within 5 bp of a putative indel—from 916 taxa of HapMap 3.1.1 |
INHMP311 | - | + | + | Site present in HapMap 3.1.1 |
ImpHomoAccuracy | - | - | + | Fraction of homozygotes imputed back into homozygotes |
ImpMinorAccuracy | - | - | + | Fraction of minor allele homozygotes imputed back into minor allele homozygotes |
DUP | - | - | + | Site with heterozygote frequency >3%—based on unimputed HapMap 3.2.1 genotypes |
“+” and “-” indicate presence or absence, respectively, of a parameter or flag in a given version of HapMap. For example, “-++” means the parameter is present in the VCF file of both unimputed and imputed HapMap 3.2.1, and absent from HapMap 3.1.1. VCF files: Unless indicated otherwise, all parameters are computed from depths and genotypes in the current VCF file.