Mutation landscape of chondrosarcoma. (A) Enchondroma and chondrosarcoma samples were displayed with the presence of the IDH1/2, COL2A1, YEATS2, and ACVR2A genes; tumor subtype; and grade (G1–G3). The Q-value for mutated genes is shown on the right. (B) Distribution of mutations and rearrangements in the coding regions of COL2A1, YEATS2, and ACVR2A genes. Black and blue arrowheads indicate missense mutations in chondrosarcoma and enchondroma, respectively. Red and green arrowheads indicate non-sense mutation and the position of intrachromosomal inversion. Asterisks indicate mutations verified as somatically acquired by sequencing the corresponding normal genome. Colored boxes indicate functional domains in each molecule (green, signal peptide; brown, von Willebrand factor type C domain; orange, collagen triple helix repeat; purple, fibrillar collagen C-terminal domain; blue, coiled-coil domain; light green, YEATS family domain; gray, histone fold domain; yellow, activin types I and II receptor domain; black, transmembrane domain; red, serine/threonine protein kinase domain).
