Name: 044_tsvc_variants
Variants: 37078
Novel Variants: 432 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 37078 22002 0/1 13 0/2 14967 1/1 81 1/2 1 1/3 1 1/4 13 2/2
Total Gene-associated SNVs 37078 22002 0/1 13 0/2 14967 1/1 81 1/2 1 1/3 1 1/4 13 2/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION65
CODON_CHANGE_PLUS_CODON_INSERTION40
CODON_DELETION33
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION34
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT119
FRAME_SHIFT+SPLICE_SITE_REGION22
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST3
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]7
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]3
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]2
MOTIF[MA0139.1:CTCF]14
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING8411
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION198
PROTEIN_PROTEIN_INTERACTION_LOCUS6
PROTEIN_STRUCTURAL_INTERACTION_LOCUS234
SPLICE_SITE_REGION16
SPLICE_SITE_REGION+SYNONYMOUS_CODING193
START_GAINED146
START_LOST10
STOP_GAINED64
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST17
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING9611
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
781
MISSENSE8640
NONSENSE65
SILENT9813
None0

Type Total Variants
HIGH488
LOW10001
MODERATE8783
MODIFIER27
None0

Type Total Variants
PASS37078

Quality Value
Min10.0
Average588.347366902214
Max3853.93

Read Depth Value
Min5
Average119.96143265548304
Max1085

Type Total Variants
None0

Chromossome Total Variants
13854
101567
112509
122018
13687
141143
151244
161623
172354
18611
192766
22424
20889
21479
22803
31910
41474
51634
62130
71582
81392
91492
X489
Y4