Name: ba exome
Variants: 48424
Novel Variants: 9029 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 48424 25887 0/1 22537 1/1
Total Gene-associated SNVs 48424 25887 0/1 22537 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION83
CODON_CHANGE_PLUS_CODON_INSERTION44
CODON_DELETION33
CODON_INSERTION37
FRAME_SHIFT151
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST2
GENE_FUSION_REVERESE1
MOTIF[MA0003.1:Ap2alpha]8
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]6
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]13
MOTIF[MA0079.2:SP1]4
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]22
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]7
NON_SYNONYMOUS_CODING11517
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION264
NON_SYNONYMOUS_START3
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS151
SPLICE_SITE_REGION22
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING239
SPLICE_SITE_REGION+SYNONYMOUS_STOP1
START_GAINED116
START_LOST18
START_LOST+CODON_DELETION1
START_LOST+SPLICE_SITE_REGION1
STOP_GAINED180
STOP_GAINED+SPLICE_SITE_REGION5
STOP_LOST26
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING10726
SYNONYMOUS_STOP10
None0

Type Total Variants
781
MISSENSE11833
NONSENSE185
SILENT10976
None0

Type Total Variants
HIGH592
LOW11153
MODERATE11980
MODIFIER50
None0

Type Total Variants
.48424

Quality Value
Min0.0
Average840.084586155625
Max3070.0

Read Depth Value
Min0
Average109.18077812654882
Max2202

Type Total Variants
None0
2|22
23

Chromossome Total Variants
15163
102300
113137
122112
13850
141379
151420
162569
172607
18852
193102
22715
201364
21802
221145
32850
42234
51823
62553
72942
81828
91723
X883
Y71