• Gene deletion; HGNC; 1787; CDKN2A; Zygosity=Homozygous (PubMed=25010205).
  
• Gene fusion; HGNC; 3508; EWSR1 + HGNC; 3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 2 fusion (Ex7/Ex5) (PubMed=25010205).
  
• Mutation; HGNC; 11998; TP53; Simple; p.Cys135Phe (c.404G>T); ClinVar=VCV000376559; Zygosity=Homozygous (PubMed=25010205; Cosmic-CLP=949155).
  

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