Name: ep03-h2a_s1
Variants: 34640
Novel Variants: 626 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 34640 142 1/2 23097 0/1 11399 1/1 2 1
Total Gene-associated SNVs 34640 142 1/2 23097 0/1 11399 1/1 2 1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION128
CODON_CHANGE_PLUS_CODON_INSERTION74
CODON_DELETION52
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION69
FRAME_SHIFT144
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST1
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0062.2:Gabp]4
MOTIF[MA0079.2:SP1]4
MOTIF[MA0093.1:USF1]2
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0139.1:CTCF]3
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0162.1:Egr1]10
NON_SYNONYMOUS_CODING12249
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION256
NON_SYNONYMOUS_START1
PROTEIN_INTERACTION_LOCUS41
SPLICE_SITE_REGION14
SPLICE_SITE_REGION+SYNONYMOUS_CODING265
START_GAINED53
START_LOST9
STOP_GAINED108
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST21
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING12603
SYNONYMOUS_STOP13
None0

Type Total Variants
671
MISSENSE12540
NONSENSE109
SILENT12881
None0

Type Total Variants
HIGH377
LOW12973
MODERATE12829
MODIFIER22
None0

Type Total Variants
LowGQ1
LowGQ;LowGQX76
LowGQ;LowGQX;LowMQ7
LowGQ;LowGQX;LowMQ;LowQD11
LowGQ;LowGQX;LowMQ;LowQD;SB55
LowGQ;LowGQX;LowMQ;SB18
LowGQ;LowGQX;LowQD;SB3
LowGQ;LowGQX;SB75
LowGQX;LowMQ;LowQD6
LowGQX;LowMQ;LowQD;SB58
LowGQX;LowQD28
LowGQX;LowQD;SB156
LowGQX;SB9
LowMQ78
LowMQ;LowQD72
LowMQ;LowQD;SB154
LowMQ;SB52
LowQD703
LowQD;SB868
PASS31902
SB308

Quality Value
Min3.07
Average2951.01969110854
Max82389.26

Read Depth Value
Min1
Average199.38490184757507
Max3698

Type Total Variants
None0
32
25

Chromossome Total Variants
13671
101376
112489
121785
13563
141018
151167
161476
171928
18562
192580
22189
20743
21510
22908
32111
41468
51375
62019
71648
81076
91372
X600
Y6