Name: ngs049p_s3
Variants: 9434
Novel Variants: 170 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 9434 5970 0/1 1 1 3433 1/1 30 1/2
Total Gene-associated SNVs 9434 5970 0/1 1 1 3433 1/1 30 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION29
CODON_CHANGE_PLUS_CODON_INSERTION26
CODON_DELETION12
CODON_INSERTION12
FRAME_SHIFT23
FRAME_SHIFT+SPLICE_SITE_REGION10
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0079.2:SP1]1
MOTIF[MA0139.1:CTCF]2
MOTIF[MA0162.1:Egr1]1
NON_SYNONYMOUS_CODING3170
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION76
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS75
SPLICE_SITE_REGION6
SPLICE_SITE_REGION+SYNONYMOUS_CODING90
START_GAINED13
START_LOST4
STOP_GAINED31
STOP_GAINED+SPLICE_SITE_REGION4
STOP_LOST11
SYNONYMOUS_CODING3806
SYNONYMOUS_STOP1
None0

Type Total Variants
215
MISSENSE3262
NONSENSE35
SILENT3897
None0

Type Total Variants
HIGH160
LOW3920
MODERATE3325
MODIFIER4
None0

Type Total Variants
LowDP231
LowGQ8
LowGQ;LowDP62
LowGQ;R81
LowGQ;R8;LowDP2
LowGQ;R8;SB2
LowGQ;SB9
LowGQ;SB;LowDP14
LowGQX2
LowGQX;LowDP6
LowGQX;LowGQ2
LowGQX;LowGQ;LowDP21
LowGQX;LowGQ;R82
LowGQX;LowGQ;SB3
LowGQX;LowGQ;SB;LowDP54
LowGQX;LowVariantFreq9
LowGQX;LowVariantFreq;LowGQ;SB1
LowGQX;LowVariantFreq;LowGQ;SB;LowDP1
LowGQX;LowVariantFreq;R81
LowGQX;LowVariantFreq;R8;SB1
LowGQX;LowVariantFreq;SB20
LowGQX;LowVariantFreq;SB;LowDP15
LowGQX;SB6
LowGQX;SB;LowDP37
LowVariantFreq102
LowVariantFreq;LowDP1
LowVariantFreq;R826
LowVariantFreq;R8;SB4
LowVariantFreq;SB111
LowVariantFreq;SB;LowDP7
PASS8265
R8167
R8;LowDP8
R8;SB5
R8;SB;LowDP1
SB149
SB;LowDP78

Quality Value
Min3.03
Average1291.67751430995
Max13814.87

Read Depth Value
Min1
Average69.47350010599958
Max294

Type Total Variants
None0
2|22
23
31

Chromossome Total Variants
1921
10348
11572
12516
13201
14220
15357
16394
17493
18147
19517
2705
20207
21115
22265
3490
4360
5378
6955
7431
8338
9360
X138
Y6