Additional file 2 of Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort

Additional file 2: Table S1. Overview of the 390 genes associated with cancer included in the panel analysis. Table S2. Genes reported with potential germline/somatic role in ependymoma. Table S3. Constrained genes manual curation results. Table S4. Cohort overview: clinical, histopathological and molecular data. Table S5. Overview of pathogenic variants in known cancer associated genes and pLoF variants in evolutionarily constrained genes by molecular tumor type. Table S6. Five heterozygous loss-of-function variants in recessive genes considered unrelated to ependymoma.

附加文件2：表S1。本次基因面板分析纳入的390个癌症相关基因概况。表S2。在室管膜瘤中被报道具有潜在生殖系/体细胞功能的基因。表S3。进化约束基因（evolutionarily constrained genes）的人工整理结果。表S4。队列概况：临床、组织病理学及分子生物学数据。表S5。按分子肿瘤类型分类的已知癌症相关基因致病变异及进化约束基因的蛋白截断变异（protein truncating variant, pLoF）概况。表S6。5个被认为与室管膜瘤无关的隐性基因杂合功能丧失变异。