Somatic variants in RUNX1 are the most common event in the germ line RUNX1 carriers-with HM cohort. (A) Plot of acquired somatic RUNX1 variants and associated germ line RUNX1 variants. Data points are colored according to the somatic and associated germ line variant observed in the patient. VAF of more than 60% indicates a copy neutral loss of heterozygosity (CNLOH) or Trisomy 21. (B) Somatic and germ line RUNX1 variants are visualized using the ProteinPaint web application.30 Variants are colored according to the somatic 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 RUNX1c; NM_001754.4; LRG_ 482. (C) The proportion of male and females harboring a somatic RUNX1 variant is significantly different. ∗P < .05. (D) Sex and age distribution of individuals with a somatic RUNX1 variant; adult ≥ 40 years, AYA = 15 to 39 years, children ≤14 years. Data points are colored according to the somatic and associated germ line variant observed in the patient. AYA, adolescents and young adults.
