• Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (PubMed=25010205).
  
• Gene fusion; HGNC; HGNC:3508; EWSR1 + HGNC; HGNC:3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 2 fusion (Ex7/Ex5) (PubMed=25010205).
  
• Mutation; HGNC; HGNC:8975; PIK3CA; Simple; p.Gly118Asp (c.353G>A); ClinVar=VCV000156446; Zygosity=Unspecified (PubMed=25010205).
  

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