Validation of MEI events detected. (A) Validation of Alu events, bp in brackets correspond to the expected PCR product size of the wild-type allele. 1: 100 bp marker, 2: WES event10 homozygous MEI insertion (178 bp). (B) Sanger trace of first breakpoint. (C) Schema representing exonic Alu insertion in ZNF880. (D) Single-end exome sequencing reveals a novel processed pseudogene (UQCR10) insertion into the exon of C1orf194. 1: 100 bp marker, 2: homozygous insertion, 3: heterozygous insertion. (E) Sanger trace representing distal breakpoint of insertion. Distal breakpoint has been mapped to chromosome 1 between 109,650,634-109,650,635 (F) Schema representing the retrotransposition event.