Name: sm008-1 both
Variants: 46794
Novel Variants: 388 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 46794 27374 0/1 19344 1/1 76 1/2
Total Gene-associated SNVs 46794 27374 0/1 19344 1/1 76 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION69
CODON_CHANGE_PLUS_CODON_INSERTION43
CODON_DELETION33
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION48
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT129
FRAME_SHIFT+SPLICE_SITE_REGION39
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]5
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]11
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]20
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING9735
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION193
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS235
SPLICE_SITE_REGION20
SPLICE_SITE_REGION+SYNONYMOUS_CODING195
START_GAINED93
START_LOST9
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED93
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST19
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING10307
SYNONYMOUS_STOP5
None0

Type Total Variants
793
MISSENSE9959
NONSENSE94
SILENT10507
None0

Type Total Variants
HIGH537
LOW10659
MODERATE10123
MODIFIER34
None0

Type Total Variants
.46520
LowQual274

Quality Value
Min10.2
Average1772.54962367003
Max34912.29

Read Depth Value
Min1
Average88.31771167243664
Max2573

Type Total Variants
None0

Chromossome Total Variants
14667
101892
113091
122474
13794
141653
151439
162137
172553
18721
193216
23113
201146
21687
221155
32513
41808
51870
63206
72377
81605
91889
X737
Y51