Fig. 2. Splice-associated variants may result in multiple non-reference junctions.

A A single splice-associated variant can result in a single non-reference junction, multiple non-reference junctions of the same junction type, or multiple non-reference junctions of different junction types. Depicted is a variant (colored dots) resulting in a single non-reference junction (orange), a variant resulting in two non-reference junctions that both use alternate donor sites (purple), and a variant resulting in multiple junctions of different types (green). B Stacked bars showing how often significant splice-associated variants are associated with only one junction (orange), multiple junctions of the same type (purple), or multiple junctions of different types (green). C Bar chart showing how often each junction combination occurs when a single splice-associated variant results in multiple junctions of different types in each of the RegTools splice variant windows used. Source data are provided as a Source Data file. ‘A’ refers to a junction that matches a known splice acceptor site but has an unknown donor site. ‘D’ refers to a junction that matches a known donor but an unknown acceptor. ‘NDA’ refers to an unknown connection of known donors and acceptor sites. ‘E’ refers to exonic. ‘I’ refers to intronic.