Figure 1.

In-house variant annotation pipeline. VCF, variant call format; AF, allele frequency; ClinVar, a freely available, public archive of the relationships among human genetic variants and phenotypes (https://www.ncbi.nlm.nih.gov/clinvar/, accessed on 10 May 2020); VEP, ensemble variant effect predictor (ensemble release 105; https://uswest.ensembl.org/info/docs/tools/vep/index.html, accessed on 10 May 2020). Please note that a number following “#” refers to a step illustrated within the diagram.