Table 2. List of 21 very rare or novel missense variants within the linkage locus that segregate among all affected members of individual families. Listed in order of the Combined Annotation-Dependent Depletion scaled C-scores²², each variant is private to one family. Families not listed had no variants that survived filtration. The affected (or unaffected) ratio denotes the number of sequenced affected (or unaffected) individuals carrying the variant over total number of sequenced affected (or unaffected) individuals within the family.

FamilyID	Chr. 17 Position	Ref. Allele	Var. Allele	Gene Symbol	ESP6500 Freq.	1000GFreq.	dbSNP ID	AffectedRatio	Unaffected Ratio	Scaled C-Score
L	49098662	G	A	SPAG9	0.069%		rs143491486	2/2	3/4	32.0
C	41143047	G	C	RUNDC1	0.069%	0.05%	rs61995866	2/2	2/4	28.2
M	40091564	C	G	TTC25				1/1	5/8	25.9
O	34883425	G	A	MYO19				1/1	4/5	19.2
C	39503458	C	T	KRT33A	0.015%		rs142400197	2/2	1/4	19.2
G	43005646	G	C	KIF18B	0.090%		rs202002436	2/2	0/4	18.8
B	43006370	C	T	KIF18B	0.008%		rs201865018	2/2	1/6	18.4
P	40345030	C	A	GHDC	0.038%	0.09%	rs149568450	2/2	2/4	18.1
J	34859014	C	T	MYO19				2/2	3/8	17.4
P	42750898	A	T	C17orf104		0.05%	rs192757598	2/2	2/4	16.2
A	41063291	G	A	G6PC				2/2	0/5	14.5
L	37785802	C	A	PPP1R1B			rs201594054	2/2	2/4	14.1
H	38933291	G	A	KRT27	0.077%		rs148928902	1/1	2/6	14.0
C	45904542	C	T	MRPL10	0.046%	0.05%	rs149631185	2/2	3/4	14.0
J	48561815	T	C	RSAD1				2/2	3/8	12.2
S	41338453	G	C	NBR1	0.042%		rs200709037	2/2	3/6	11.3
B	48141461	G	A	ITGA3		0.05%	rs201210478	2/2	1/6	10.7
K	39036435	C	T	KRT20				1/1	0/24	10.5
J	39620632	G	A	KRT32	0.008%		rs147094229	2/2	4/8	7.2
K	55194252	G	A	AKAP1	0.062%		rs149147838	1/1	1/24	6.7
N	45419305	C	G	EFCAB13	0.038%		rs138179179	1/1	4/7	5.0