Mendel,MD | Dashboard

Name: a
Variants: 105516
Novel Variants: 7942 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	105516	58815 0/1	46299 1/1	402 1/2
Total Gene-associated SNVs	105516	58815 0/1	46299 1/1	402 1/2

Type	Total Variants
	7
CODON_CHANGE_PLUS_CODON_DELETION	83
CODON_CHANGE_PLUS_CODON_INSERTION	94
CODON_DELETION	136
CODON_INSERTION	152
FRAME_SHIFT	99
FRAME_SHIFT+SPLICE_SITE_REGION	44
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION	2
FRAME_SHIFT+STOP_LOST	3
GENE_FUSION	1
MOTIF_DELETED	1
MOTIF[MA0003.1:Ap2alpha]	24
MOTIF[MA0014.1:Pax5]	4
MOTIF[MA0016.1:RXRA]	1
MOTIF[MA0024.1:E2F1]	6
MOTIF[MA0035.1:Gata1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0047.1:FOXA2]	1
MOTIF[MA0058.1:Max]	15
MOTIF[MA0059.1:Cmyc]	7
MOTIF[MA0062.1:Gabp]	4
MOTIF[MA0062.2:Gabp]	32
MOTIF[MA0065.2:PPARG]	1
MOTIF[MA0079.1:SP1]	4
MOTIF[MA0079.2:SP1]	14
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0093.1:USF1]	6
MOTIF[MA0095.1:Yy1]	9
MOTIF[MA0099.2:AP1]	1
MOTIF[MA0114.1:HNF4A]	7
MOTIF[MA0138.2:Nrsf]	5
MOTIF[MA0139.1:CTCF]	78
MOTIF[MA0147.1:Cmyc]	9
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0159.1:RXR]	1
MOTIF[MA0162.1:Egr1]	28
NON_SYNONYMOUS_CODING	10519
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	220
NON_SYNONYMOUS_START	1
PROTEIN_PROTEIN_INTERACTION_LOCUS	2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	225
SPLICE_SITE_REGION	34
SPLICE_SITE_REGION+CODON_DELETION	2
SPLICE_SITE_REGION+CODON_INSERTION	4
SPLICE_SITE_REGION+SYNONYMOUS_CODING	247
START_GAINED	261
START_LOST	8
STOP_GAINED	83
STOP_GAINED+CODON_INSERTION	3
STOP_GAINED+SPLICE_SITE_REGION	1
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION	1
STOP_LOST	18
STOP_LOST+SPLICE_SITE_REGION	3
SYNONYMOUS_CODING	11132
SYNONYMOUS_STOP	9
TRANSCRIPT	4
None	0

Type	Total Variants
PASS	105516

Type	Total Variants
None	0