TRPV4 and tuberous sclerosis: After visual inspection in IGV and further evaluation, two of these variants, a variant in METAP1 (c.1037C>T, p.A346V, NM_015143) with VAF 0.8% in brain WES of patient 18 with CNS tumor and a variant in TRPV4 (c.1796C>T, p.T599M, NM_021625) with VAF 0,72% in brain WES of patient 10 with TSC, qualified for confirmatory TAS.