Table 7.

Abbreviation table containing all acronyms that are used in the text.

Acronym/phrase	Meaning
VoC	Variant of concern
NGS	Next-generation sequencing
VCF	Variant call format
CHROM	The name of the sequence (typically a chromosome) on which the variation is being called
POS	The 1-based position of the variation on the given sequence
REF	The reference base (or bases in the case of an indel) at the given position on the given reference sequence
ALT	The list of alternative alleles at this position
DP	Read depth
AD	Read depth for each allele
AF	Allele frequency for each ALT allele in the same order as listed (use this when estimated from primary data, not called genotypes)
HGVS	Corresponding amino acid substitution
Nt	Referring to nucleotide mutations