“…Further details on each variant can be found by clicking the plus button on the left of each gene symbol. Expanded child row (Figure b, bottom) contains the links to a pop‐up window for detailed information on the variant and links to external server including gnomAD, MARRVEL (Wang et al, ), VarSome (Kopanos et al, ), Beacon Network (Global Alliance for Genomics & Health, ), WEScover, a web application showing gnomAD WES coverage data organized by genes and populations (Alvarez et al, ), and VarSite (Stephenson, Laskowski, Nightingale, Hurles, & Thornton, ). The link to detailed view opens a new window with further details for each variant including: (1) calculated variant consequence for each transcript with predicted pathogenicity scores from multiple algorithms; (2) allele frequencies from the 1000 Genomes Project, gnomAD, and the Exome Sequencing Project summarized by ancestral populations; (3) scores for predicted effect on splice sites; (4) locus‐specific conservation scores; (5) protein families or domains overlapping with the locus; and (6) a list of PubMed entries on the variants extracted from VEP annotation.…”