Name: ex-15004
Variants: 48148
Novel Variants: 1222 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION45
CODON_CHANGE_PLUS_CODON_INSERTION37
CODON_DELETION28
CODON_INSERTION23
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT206
FRAME_SHIFT+SPLICE_SITE_REGION23
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST1
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]6
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]8
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0139.1:CTCF]27
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING8475
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION184
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS233
SPLICE_SITE_REGION16
SPLICE_SITE_REGION+SYNONYMOUS_CODING214
START_GAINED142
START_LOST5
STOP_GAINED57
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST19
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9560
SYNONYMOUS_STOP13
TRANSCRIPT1
None0

Type Total Variants
955
MISSENSE8563
NONSENSE56
SILENT9786
None0

Type Total Variants
HIGH555
LOW9974
MODERATE8793
MODIFIER38
None0

Type Total Variants
PASS48148

Quality Value
Min10.0
Average490.237247334835
Max3208.33458893799

Read Depth Value
Min6
Average159.81955636786574
Max1242

Type Total Variants
None0

Chromossome Total Variants
14713
102162
113221
122511
131001
141584
151627
162202
173018
18761
193321
23181
201157
21695
221098
32702
41949
52227
62718
72147
81622
91956
X574
Y1