Germline variants in USP9X are associated with multiple congenital anomalies, intellectual disability, and an increased risk of B-ALL. (A) Oncoprint analysis showing major categories of phenotypes (columns) found in individual probands (rows) in decreasing order of frequency (right to left and top to bottom, respectively) and also summarized with the percentages in the bottom right of the figure. The left 3 columns depict malignancy (presence of B-ALL is shown in black and osteosarcoma in dark grey), mutation types (deletion of 5' UTR shown in dark green, deletion >5kb in brown, frameshift in yellow, inframe in blue, missense in red, nonsense in purple and splice site in green), and whether the variant was de novo or not (shown in black vs blue, respectively). (B) Cumulative incidence plot of female patients with germline LoF variants in USP9X diagnosed with B-ALL compared with age- and sex-adjusted patients with B-ALL in the SEER database.