Table 1.

Case and control frequencies of collapsing models’ qualifying variants in the top three most significant genes.

Model	Gene	Cases	Controls	Case frequency	Control frequency	P-value
LoF	KRT82	19	88	2.2%	0.6%	2.03E−06
	KRTCAP3	9	30	1.1%	0.2%	1.28E−04
	DECR2	6	11	0.7%	0.01%	1.39E−04
LoF + missense	KRT82	47	376	5.5%	2.4%	9.19E−07
	ZNF418	0	271	0%	1.7%	1.04E−06
	PCCB	2	321	0.2%	2.1%	1.02E−05
LoF + missense + splicing	KRT82	51	404	6.0%	2.6%	2.18E−07
	NCOA3	4	419	0.4%	2.7%	3.54E−06
	IGFBL1	0	214	0%	1.4%	2.67E−05

p-value was determined by two-tailed Fisher’s exact test (FET).