Novel and rare functional genomic variants in multiple autoimmune syndrome and Sjögren’s syndrome

Table 2 Candidate genetic variants identified amongst individuals carrying autoimmunity, which are absent from controls

Chr	Position	Ref Allele	Alt Allele	Identifier	Type of mutation	Gene	Transcript ID	Exon	HGVS protein
1	39,854,131	A	C	Unknown	Nonsyn	MACF1	NM_012090	52	p.Asn3144Thr
1	39,879,412	G	A	rs55976345	Nonsyn	KIAA0754/MACF1	NM_015038	1	p.Ala1159Thr
6	109,767,639	G	C	Unknown	Intronic/potential regulatory	MICAL1	NM_001159291	*	*
1	161,719,833	C	G	Unknown	Nonsyn	DUSP12	NM_007240	1	p.Pro81Arg
7	8,196,577	A	T	Unknown	Intronic/potentially regulatory	ICA1	NM_022307	*	*
12	51,740,405	A	G	rs143199509	Splicing	CELA1	NM_001971	1	Unknown
12	57,522,754	A	C	Unknown	Nonsyn	LRP1/STAT6	NM_002332	1	p.Thr3Pro
19	1,009,552	C	G	Unknown	Nonsyn	GRIN3B	NM_138690	9	p.Ala1028Gly
19	17,392,775	C	T	Unknown	Nonsyn	BABAM1/ANKLE1	NM_001278444	1	p.Arg70Trp
19	17,392,775	C	T	Unknown	Synonymous	BABAM1/ANKLE1	NM_001278445	1	**
19	17,392,775	C	T	Unknown	Nonsyn	BABAM1/ANKLE1	NM_152363	1	p.Arg70Trp
19	19,245,591	A	C	Unknown	Splicing	TMEM161A	NM_001256766	2	Unknown
19	19,245,591	A	C	Unknown	Splicing	TMEM161A	NM_017814	2	Unknown
19	47,259,734	G	C	Unknown	Nonsyn	FKRP	NM_001039885	4	p.Glu343Gln
19	47,259,734	G	C	Unknown	Nonsyn	FKRP	NM_024301	4	p.Glu343Gln

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