Figure 7.
Heatmap of P/LP germline variants in genes related to myeloid cell development and hemostasis. Demographic and clinical data are depicted (top), including percentages of affected family members who developed hematologic malignancy in each family (“n=” denotes the total numbers of family members). The UpSet plots on the right of the heat map show the related functional annotations for each gene. The dots indicate that the gene in that row is involved in the functional categories listed at the top. The bar plots on the far-right show numbers of families (Mut. Fam. Count) that carry germline mutations in each gene (scale labeled at the bottom of the plot). Protein size–normalized family number (Norm. Fam. Recc.) are shown with star sign, to provide the affected frequency in a normalized level (scale labeled at the top of the plot). The color codes for mutation types (both the heat map and the bar plot) and for the clinical and demographic data are listed below the heat map. B/LB, benign/likely benign; CNV, copy number variation; F, remale; Fib, Fibroblast; M(RUNT), mutation in RUNT domain; M, male; M(TAD), mutation in transactivation domain; N/FS, nonsense/frame shift.