Additional file 6 of Genomic analysis of PLNTY-like tumor progression into epithelioid glioblastoma: a case report

Additional file 6: Table S5. Germline variants that were shared between the mother and the patient and located in the coding region of the genes in the chromosomes that were originally inherited from the mother and present in the tumor samples. Additionally, genes were filtered based on population frequency 0.1 as well as Cosmic (>1 reported hits) and Clinvar databases and algorithmically predicted pathogenicity. The table presents information of the variant location, altered nucleotide and amino acid, functionality, and type of exonic mutation (non-synonymous, synonymous/ frameshift deletion). Number of altered RNA reads, total number of RNA reads and alteration fraction is reported in E-GB FF and E-GB CL samples. Additionally, the table provides information on whether variant is reported in ClinVar database, Cosmic database, allele frequencies in different populations and prediction scores for variant to be harmful in different prediction algorithms.