Graphical summary of how rare variants within domain regions were collapsed together for analysis.

<p>This figure describes how regions of rare variants were collapsed together and analysed: • Individual Domains: Regions which mapped to individual domains of a protein were analysed as opposed to the conventional approach of using individual gene regions. • Domain-Domain Interactions: Pairwise regions which mapped to two domains predicted to be responsible for a domain-domain interaction were analysed together. • Protein Families: All regions which mapped to the same type of protein domain within proteins which had experimental evidence of interaction were combined and analysed together. Domain images were created using the generate graphics feature from Pfam (located at <a href="http://pfam.xfam.org/generate_graphic" target="_blank">http://pfam.xfam.org/generate_graphic</a>).