Name: sm006-1 both
Variants: 46475
Novel Variants: 344 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 46475 26563 0/1 19846 1/1 66 1/2
Total Gene-associated SNVs 46475 26563 0/1 19846 1/1 66 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION75
CODON_CHANGE_PLUS_CODON_INSERTION47
CODON_DELETION29
CODON_DELETION+SPLICE_SITE_REGION2
CODON_INSERTION42
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT125
FRAME_SHIFT+SPLICE_SITE_REGION38
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST3
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]10
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]3
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]18
MOTIF[MA0147.1:Cmyc]4
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING9574
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION184
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS226
SPLICE_SITE_REGION14
SPLICE_SITE_REGION+SYNONYMOUS_CODING192
START_GAINED90
START_LOST12
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED92
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST17
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING10281
SYNONYMOUS_STOP6
None0

Type Total Variants
760
MISSENSE9788
NONSENSE93
SILENT10479
None0

Type Total Variants
HIGH523
LOW10618
MODERATE9954
MODIFIER25
None0

Type Total Variants
.46145
LowQual330

Quality Value
Min10.2
Average1629.25606153913
Max35302.29

Read Depth Value
Min1
Average80.14050564819796
Max2749

Type Total Variants
None0

Chromossome Total Variants
14631
101896
113035
122563
13809
141714
151455
162189
172517
18681
193237
23064
201125
21668
221151
32488
41744
51905
63112
72422
81579
91859
X589
Y42