Whole-exome sequencing of a pedigree segregating asthma

BMC Medical Genetics

Table 4 Family-specific variants identified in mother and two affected children and variant annotations from ANNOVAR

				Functional prediction program
Gene	Amino acid change¹	Chr²	Pos³	SIFT⁴	PolyPhen2⁵	PhyloP⁶	Mutation taster⁷	LRT⁸
PDE4DIP	I303L	1	144930802	0.47	0.45	0.75	1.00^*	0.95^*
FCRL6	R123Q	1	159778799	0.14	0.28	0.02	0.01	0.00
AIM2	N194D	1	159035936	0.00	0.99^*	0.16	0.08	0.69
ZBTB37	M396V	1	173854936	0.00	--	--	--	--
IER5	E103K	1	181058345	0.07	0.07	0.94	0.02	0.91
CBLB	D454A	3	105438937	0.37	0.78	0.99^*	0.99^*	0.99^*
CCDC80	S95L	3	112358469	0.13	0.03	6.2E-4	0.04	6.0E-6
KALRN	L1644F	3	124281690	0.00	0.83	0.99^*	0.72	0.99^*
GALNTL6	I160V	4	173269765	1.00^*	0.00	0.99^*	0.00	0.84
COMMD5	R38Q	8	146076611	0.47	0.03	0.10	0.06	0.94

¹Amino acid changes are represented as the wild type amino acid, position of the amino acid in the polypeptide chain followed by the amino acid resulting from the mutation. All amino acids are represented by the single letter amino acid code.
²Chr = Chromosome.
³Pos = chromosome position.
⁴SIFT, prediction of a change being damaging (>0.95) or tolerated. Values >0.95 are marked with an asterisk. For all five functional prediction programs, missing values (−−) were not provided by ANNOVAR.
⁵PolyPhen2, prediction of a change being damaging (>0.85), possibly damaging (0.15-0.85) or benign (<0.15). Values >0.85 are marked with an asterisk.
⁶Phylop, prediction of a conserved (>0.95) or non-conserved site (<0.95) sites across species. Values >0.95 are marked with an asterisk.
⁷Mutation Taster, prediction of a disease-causing variant (1 – p-value). Values >0.95 are marked with an asterisk.
⁸LRT, likelihood ratio test for codon constraint. Values >0.95 are marked with an asterisk.

ISSN: 1471-2350