Fig. 2

Mutations identified in CYLD and ALPK1. Variants in CYLD (a) and ALPK1 (b) against the translation of the longest transcript of these genes (ENST00000458497.5 and ENST00000311559.13). Protein domains are from UniProt. All of the variants shown were validated by high-depth targeted exome sequencing. Adjacent normal represents morphologically normal tissue from the same block as the tumor which was used as a germline sample for somatic variant calling. Variants in red were called somatically. Variants in green were called from the adjacent normal tissue. The color of the circles indicates tumor/tissue type. The somatic splice region mutation in PD29703a in CLYD is not shown. c Protein alignment of ALPK1 across vertebrates. The conservation score represents constrained elements in multiple alignments by quantifying substitution deficits. The arrow indicates the position of the p.V1092 residue in humans