Table 1

Filtered variants in SOS2 and LZTR1

Family	AAChange.refGene	Esp 6500	1000g 2012	snp137	avsift	PP2 HDIV	LRT	Mut. Taster	Mut. Assessor	GERP++	Classification
Br-F7	SOS2:NM_006939:exon20: c.3275C>T:p.P1092L	0	0	.	0.07	D	D	D	Medium	5.62	Unavailable relatives
Br-F1	SOS2:NM_006939:exon9: c.1127C>G:p.T376S	0	0	.	0.28	B	D	D	Low	5.55	Probably pathogenic
US-F1	SOS2:NM_006939:exon9: c.1127C>G:p.T376S	0	0	.	0.28	B	D	D	Low	5.55	Probably pathogenic
Br-F8	SOS2:NM_006939:exon7: c.930T>A:p.N310K	0	0	.	0.46	B	D	D	Low	3.27	False positive
Br-F2	SOS2:NM_006939:exon6: c.800T>A:p.M267K	0	0	.	0	B	D	D	Medium	5.54	Probably pathogenic
Br-F6	LZTR1:NM_006767:exon4: c.356A>G:p.Y119C	0	0	.	0.01	D	D	D	Medium	5.28	Probably Pathogenic
Po-F1	LZTR1:NM_006767:exon8: c.740G>A:p.S247N	0	0	.	0	D	D	D	Medium	5.7	Probably Pathogenic
Br-F3	LZTR1:NM_006767:exon8: c.742G>A:p.G248R	0	0	.	0	D	D	D	Medium	5.6	Probably Pathogenic
Br-F4	LZTR1:NM_006767:exon9: c.850C>T:p.R284C	0	0	.	0	D	D	D	Medium	4.14	Probably Pathogenic
Br-F5	LZTR1:NM_006767:exon9: c.859C>T:p.H287Y	0	0	.	0	D	D	D	High	5.24	Probably Pathogenic
Br-F9	LZTR1:NM_006767:exon12 :c.1341C>A:p.F447L	0	0.0005	rs201016956	0.22	D	D	D	Low	−5.75	Unaffected mother
Br-F7	LZTR1:NM_006767:exon16 :c.1939A>G:p.I647V	0.004	0.0009	rs148916790	0.04	B	D	D	Low	4.95	Unavailable relatives

1000g, The 1000 Genomes Project; 609 Brazil, Brazilian cohort of 609 elderly controls; AA, amino acid; avsift, SIFT score; B, benign; D, damaging; Esp 6500, 6500 samples from Exome Sequencing Project; GERP++, Genomic Evolutionary Rate Profiling score; LRT, Likelihood Ratio Test score; Mut., mutation; PP2 HDIV, PolyPhen 2 score; snp137, database of Short Genetic Variation (dbSNP) V.137.