Structural alterations in index SMZL cases. Circos diagrams of genomic complexity identified in six index SMZL cases. Outer data track represents the relative sequencing coverage of chromosomal regions normalized to publicly available genome sequencing data of 49 healthy individuals corresponding to ploidy at these regions. Light blue indicates region of euploidy, dark blue indicates region of chromosomal gain and red indicates region of chromosomal loss. Arrows indicate deletion portions of the long arm of chromosome 7 (del7q) in two of the six index genomes. Arrowheads indicate other regions of chromosomal loss or gain. Inner data tracks represent large structural alterations between spatial distinct genomic regions affecting the coding regions of one or more genes. Light blue lines indicate a single gene involved in structural alteration. Black lines indicate two genes involved in structural alteration. The three index genomes with mutations in NOTCH2 are shown in A–C.