2014.12.11.blog_spotlight_variants_annovar.txt

Chr	Start	End	Ref	Alt	Func.ensgene	Gene.ensgene	GeneDetail.ensgene	ExonicFunc.ensgene	AAChange.ensgene	phastConsElements46way	esp6500si_all	1000g2014oct_all	snp138	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	genomicSuperDups	clinvar_20140929	gwasCatalog	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo	Otherinfo
7	117120154	117120154	-	T	exonic	ENSG00000001626		frameshift insertion	ENSG00000001626:ENST00000003084:exon1:c.6_7insT:p.Q2fs,ENSG00000001626:ENST00000426809:exon1:c.6_7insT:p.Q2fs,ENSG00000001626:ENST00000454343:exon1:c.6_7insT:p.Q2fs	Score=452;Name=lod=92																																het	.	.	7	117120154	.	A	AT	.	.	.	GT	0/1
7	117105836	117105838	TTT	-	intergenic	ENSG00000214684,ENSG00000001626	dist=25002;dist=13520																																			het	.	.	7	117105835	.	TTTT	T	.	.	.	GT	0/1
7	117307160	117307160	T	-	exonic	ENSG00000001626		stoploss	ENSG00000001626:ENST00000454343:exon26:c.4258delT:p.X1420R,ENSG00000001626:ENST00000003084:exon27:c.4441delT:p.X1481R	Score=321;Name=lod=27																																het	.	.	7	117307159	.	TT	T	.	.	.	GT	0/1
7	117119513	117119513	-	A	intronic	ENSG00000001626																																				het	.	.	7	117119513	.	C	CA	.	.	.	GT	0/1
7	117144417	117144417	-	ATG	exonic	ENSG00000001626		stopgain	ENSG00000001626:ENST00000003084:exon2:c.164_165insATG:p.R55delinsRX,ENSG00000001626:ENST00000426809:exon2:c.164_165insATG:p.R55delinsRX,ENSG00000001626:ENST00000454343:exon2:c.164_165insATG:p.R55delinsRX	Score=520;Name=lod=173																																het	.	.	7	117144417	.	G	GATG	.	.	.	GT	0/1
7	117307124	117307126	GAG	-	exonic	ENSG00000001626		nonframeshift deletion	ENSG00000001626:ENST00000454343:exon26:c.4222_4224del:p.1408_1408del,ENSG00000001626:ENST00000003084:exon27:c.4405_4407del:p.1469_1469del	Score=455;Name=lod=94																																het	.	.	7	117307123	.	AGAG	A	.	.	.	GT	0/1