Table 5.

WES identified 7 variants in COA/UAB-8. Information on each variant (mutation) including gene name, mutation location, mutation type, and known functions/pathways of normal gene product.

Ch#+	Gene	Mutation	Mutation type	Known functions/pathways of normal gene product
2	POTEF	p.Pro738Ala/c.2212 C > G	Missense	Involved in retina homeostasis
3	MUC4	p.His1613Asp/c.4837 C > G	Missense	Tumor progression, cell-cell adhesion, epithelial cell proliferation and differentiation
6	KIF25	p.Lys28Met/c.83 A > T	Missense	Negative regulator of amino acid starvation-induced autophagy
8	ATAD2		Start gained	Estrogen-induced cell proliferation, cell cycle progression of breast cancer cells
17	KRT31	p.Ile37Thr/c.110 T > C	Missense	Structural component of cytoskeleton, epidermis development
19	RHPN2	p.Val73Met/c.217 G > A	Missense	Binds to and activates GTP-Rho, negatively regulates stress fiber formation and facilitates motility of many cell types including T and B cells
19	RHPN2		Start gained	Binds to and activates GTP-Rho, negatively regulates stress fiber formation and facilitates motility of many cell types including T and B cells

⁺Chromosome number.