Mendel,MD | Dashboard

Name: udp2568_axeq_1_hs37d5_remdup-uniqmap
Variants: 72080
Novel Variants: 5164 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	72080	41051 0/1	31029 1/1
Total Gene-associated SNVs	72080	41051 0/1	31029 1/1

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	49
CODON_CHANGE_PLUS_CODON_INSERTION	40
CODON_DELETION	93
CODON_INSERTION	67
FRAME_SHIFT	141
FRAME_SHIFT+SPLICE_SITE_REGION	41
FRAME_SHIFT+START_LOST	1
FRAME_SHIFT+STOP_GAINED	1
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION	2
FRAME_SHIFT+STOP_LOST	4
MOTIF[MA0003.1:Ap2alpha]	9
MOTIF[MA0014.1:Pax5]	3
MOTIF[MA0016.1:RXRA]	2
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0058.1:Max]	8
MOTIF[MA0059.1:Cmyc]	1
MOTIF[MA0062.2:Gabp]	18
MOTIF[MA0065.1:PPARG]	1
MOTIF[MA0079.1:SP1]	2
MOTIF[MA0079.2:SP1]	9
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0080.2:PU1]	2
MOTIF[MA0093.1:USF1]	1
MOTIF[MA0095.1:Yy1]	5
MOTIF[MA0099.2:AP1]	1
MOTIF[MA0114.1:HNF4A]	4
MOTIF[MA0138.1:Nrsf]	1
MOTIF[MA0138.2:Nrsf]	7
MOTIF[MA0139.1:CTCF]	34
MOTIF[MA0147.1:Cmyc]	3
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0162.1:Egr1]	12
NON_SYNONYMOUS_CODING	9712
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	193
NON_SYNONYMOUS_START	2
PROTEIN_PROTEIN_INTERACTION_LOCUS	4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	249
SPLICE_SITE_REGION	23
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_DELETION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	233
START_GAINED	171
START_LOST	12
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
START_LOST+CODON_DELETION	1
STOP_GAINED	90
STOP_GAINED+CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	5
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION	1
STOP_LOST	22
STOP_LOST+SPLICE_SITE_REGION	4
SYNONYMOUS_CODING	10599
SYNONYMOUS_STOP	12
None	0

Type	Total Variants
.	72080

Type	Total Variants
None	0