Mendel,MD | Dashboard

Name: udp2569_axeq_1_hs37d5_remdup-uniqmap
Variants: 72750
Novel Variants: 5931 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	72750	41237 0/1	31513 1/1
Total Gene-associated SNVs	72750	41237 0/1	31513 1/1

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	58
CODON_CHANGE_PLUS_CODON_INSERTION	37
CODON_DELETION	106
CODON_INSERTION	67
FRAME_SHIFT	132
FRAME_SHIFT+SPLICE_SITE_REGION	38
FRAME_SHIFT+STOP_GAINED	1
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION	2
FRAME_SHIFT+STOP_LOST	5
MOTIF[MA0003.1:Ap2alpha]	9
MOTIF[MA0016.1:RXRA]	5
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0058.1:Max]	10
MOTIF[MA0059.1:Cmyc]	1
MOTIF[MA0062.1:Gabp]	1
MOTIF[MA0062.2:Gabp]	17
MOTIF[MA0065.1:PPARG]	1
MOTIF[MA0079.1:SP1]	1
MOTIF[MA0079.2:SP1]	11
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0080.2:PU1]	2
MOTIF[MA0083.1:Srf]	1
MOTIF[MA0093.1:USF1]	3
MOTIF[MA0095.1:Yy1]	7
MOTIF[MA0099.2:AP1]	1
MOTIF[MA0114.1:HNF4A]	4
MOTIF[MA0138.2:Nrsf]	4
MOTIF[MA0139.1:CTCF]	36
MOTIF[MA0147.1:Cmyc]	5
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0162.1:Egr1]	16
NON_SYNONYMOUS_CODING	9745
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	201
NON_SYNONYMOUS_START	1
PROTEIN_PROTEIN_INTERACTION_LOCUS	4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	240
SPLICE_SITE_REGION	24
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_DELETION	2
SPLICE_SITE_REGION+SYNONYMOUS_CODING	211
START_GAINED	167
START_LOST	13
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	82
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION	1
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	5
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION	1
STOP_LOST	21
STOP_LOST+SPLICE_SITE_REGION	4
SYNONYMOUS_CODING	10486
SYNONYMOUS_STOP	8
None	0

Type	Total Variants
.	72750

Type	Total Variants
None	0