Episignature derivation is further complicated by the existence of variant-specific episignatures that exist for a subgroup of variants within a gene (e.g.SMARCA229,60) or a set of common genes within similar pathways (e.g.Coffin-Siris syndrome episignature, due to variants in ARID1A (MIM: 603024), ARID1B (MIM:614556), SMARCB1 (MIM:601607), and SMARCA4 (MIM:603254), and SOX11 (MIM:600898)60. Here, SOX11 is linked to Coffin-Siris syndrome.