A somatic variant in DDX41 is the most common event in the germ line DDX41 carriers-with HM cohort. (A) Plot of acquired somatic DDX41 variants and associated germ line DDX41 variants. Data points are colored according to the somatic and associated germ line variant observed in the patient. (B) Somatic and germ line DDX41 variants are visualized using the ProteinPaint web application.30 Variants are colored according to the somatic variant and associated germ line variant observed in the patient. The number of probands for each variant is indicated within the circle where the number is greater than 1. All variants are annotated to DDX41; NM_016222.4; LRG_ 1386. (C) The proportion of male and females harboring a somatic DDX41 variant shows no significant difference. (D) Sex and age distribution of individuals with a somatic DDX41; adult ≥40 years, AYA = 15 to 39 years, children ≤14 years. AYA, adolescents and young adults.
