Mendel,MD | Dashboard

Name: mk266 final
Variants: 97048
Novel Variants: 1168 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	97048	55305 0/1	41583 1/1	160 1/2
Total Gene-associated SNVs	97048	55305 0/1	41583 1/1	160 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	139
CODON_CHANGE_PLUS_CODON_INSERTION	97
CODON_DELETION	50
CODON_INSERTION	73
FRAME_SHIFT	254
FRAME_SHIFT+SPLICE_SITE_REGION	41
FRAME_SHIFT+START_LOST	4
FRAME_SHIFT+STOP_GAINED	3
FRAME_SHIFT+STOP_LOST	4
GENE_FUSION	1
MOTIF_DELETED	2
MOTIF[MA0003.1:Ap2alpha]	16
MOTIF[MA0014.1:Pax5]	4
MOTIF[MA0016.1:RXRA]	3
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	2
MOTIF[MA0047.2:FOXA2]	1
MOTIF[MA0058.1:Max]	7
MOTIF[MA0059.1:Cmyc]	2
MOTIF[MA0062.1:Gabp]	3
MOTIF[MA0062.2:Gabp]	21
MOTIF[MA0079.1:SP1]	2
MOTIF[MA0079.2:SP1]	13
MOTIF[MA0080.1:PU1]	2
MOTIF[MA0080.2:PU1]	3
MOTIF[MA0083.1:Srf]	1
MOTIF[MA0093.1:USF1]	3
MOTIF[MA0095.1:Yy1]	8
MOTIF[MA0099.1:Cfos]	2
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	6
MOTIF[MA0138.2:Nrsf]	6
MOTIF[MA0139.1:CTCF]	71
MOTIF[MA0147.1:Cmyc]	9
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	3
MOTIF[MA0162.1:Egr1]	20
NON_SYNONYMOUS_CODING	10860
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	232
PROTEIN_PROTEIN_INTERACTION_LOCUS	4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	254
SPLICE_SITE_REGION	32
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_DELETION	2
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	249
START_GAINED	224
START_LOST	17
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION	1
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	109
STOP_GAINED+CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	2
STOP_LOST	23
STOP_LOST+SPLICE_SITE_REGION	3
SYNONYMOUS_CODING	11477
SYNONYMOUS_STOP	8
None	0

Type	Total Variants
None	0