Table 2 Feature comparison with similar web-tools

Features

Input VCF files

x

x

x

x

x

Input list of variants

x

-

x

-

x

Pedigree input

-

-

-

-

x

Phenotype terms (HPO/OMIM)

-

x

x

x

x

Result download

x

x

x

-

-

Excel import

x

x

x

-

-

Genome browser visualisation

x

-

-

x

x

Result web storage (shareable links)

x

-

x

-

x

Annotations

Gene information

x

x

x

x

x

Population frequency

x

-

x

x

x

Deleteriousness prediction

x

x

x

x

x

Conservation scores

x

x

x

-

x

Clinical associations

x

-

x

x

x

Analysis

Variant prioritisation

x

x

x

x

x

Variant ranking

x

x

-

x

x

Coding variants

x

x

x

x

x

Non-coding variants

x

-

x

x

x

Gene Ranking

x

-

x

x

-

Functional enrichment analysis

x

-

-

-

-

Graphical representation

x

-

x

-

x

Filtering

Genotype filtering (Case Control)

x

-

-

-

x

Variant attributes filtering

x

-

x

-

x

Inheritance model

x

-

x

x

x

Mutation count/gene

x

-

-

-

x