Mendel,MD | Dashboard

Name: mk265 final
Variants: 93837
Novel Variants: 1077 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	93837	52761 0/1	40925 1/1	151 1/2
Total Gene-associated SNVs	93837	52761 0/1	40925 1/1	151 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	127
CODON_CHANGE_PLUS_CODON_INSERTION	98
CODON_DELETION	47
CODON_INSERTION	71
FRAME_SHIFT	234
FRAME_SHIFT+SPLICE_SITE_REGION	41
FRAME_SHIFT+START_LOST	4
FRAME_SHIFT+STOP_GAINED	6
FRAME_SHIFT+STOP_LOST	4
GENE_FUSION_REVERESE	1
MOTIF_DELETED	1
MOTIF[MA0003.1:Ap2alpha]	15
MOTIF[MA0014.1:Pax5]	4
MOTIF[MA0016.1:RXRA]	3
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0047.2:FOXA2]	1
MOTIF[MA0058.1:Max]	10
MOTIF[MA0059.1:Cmyc]	3
MOTIF[MA0062.1:Gabp]	5
MOTIF[MA0062.2:Gabp]	21
MOTIF[MA0079.1:SP1]	2
MOTIF[MA0079.2:SP1]	13
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0083.1:Srf]	1
MOTIF[MA0093.1:USF1]	3
MOTIF[MA0095.1:Yy1]	7
MOTIF[MA0099.1:Cfos]	2
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	5
MOTIF[MA0138.2:Nrsf]	3
MOTIF[MA0139.1:CTCF]	66
MOTIF[MA0140.1:Tal1]	1
MOTIF[MA0147.1:Cmyc]	11
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0162.1:Egr1]	18
NON_SYNONYMOUS_CODING	10858
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	236
PROTEIN_PROTEIN_INTERACTION_LOCUS	3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	254
SPLICE_SITE_REGION	30
SPLICE_SITE_REGION+CODON_DELETION	1
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	240
START_GAINED	216
START_LOST	14
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	106
STOP_GAINED+CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	4
STOP_LOST	19
STOP_LOST+SPLICE_SITE_REGION	4
SYNONYMOUS_CODING	11302
SYNONYMOUS_STOP	12
None	0

Type	Total Variants
None	0