Fig. 5.

Examples of novel variants detected in a cohort of paediatric B-ALL patient samples. A Two cases with altered splicing of EVT6, and B three cases with RB1 unpartnered fusions. Shown for each case in top to bottom order is the read coverage, novel assembled transcript and splicing across the variant. Novel splice junctions are coloured with their corresponding number of supporting reads. There are two acceptor sites (right side) for the RB1 variant, approximately 3.5 kb apart, that correspond to alternative splice variants; the donor site (left side) is always the same. For comparison, a representative control sample is shown (bottom) with corresponding expressed reference transcripts