Name: ep03-h1a_s1
Variants: 34464
Novel Variants: 607 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 34464 135 1/2 22903 0/1 11426 1/1
Total Gene-associated SNVs 34464 135 1/2 22903 0/1 11426 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION125
CODON_CHANGE_PLUS_CODON_INSERTION82
CODON_DELETION52
CODON_INSERTION65
FRAME_SHIFT138
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.2:Gabp]4
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0139.1:CTCF]3
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]8
NON_SYNONYMOUS_CODING12217
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION250
NON_SYNONYMOUS_START1
PROTEIN_INTERACTION_LOCUS37
SPLICE_SITE_REGION12
SPLICE_SITE_REGION+SYNONYMOUS_CODING256
START_GAINED53
START_LOST8
STOP_GAINED113
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING12480
SYNONYMOUS_STOP12
None0

Type Total Variants
656
MISSENSE12502
NONSENSE113
SILENT12748
None0

Type Total Variants
HIGH374
LOW12836
MODERATE12791
MODIFIER18
None0

Type Total Variants
LowGQ2
LowGQ;LowGQX74
LowGQ;LowGQX;LowMQ14
LowGQ;LowGQX;LowMQ;LowQD10
LowGQ;LowGQX;LowMQ;LowQD;SB54
LowGQ;LowGQX;LowMQ;SB14
LowGQ;LowGQX;LowQD;SB2
LowGQ;LowGQX;SB63
LowGQX1
LowGQX;LowMQ;LowQD4
LowGQX;LowMQ;LowQD;SB46
LowGQX;LowQD28
LowGQX;LowQD;SB142
LowGQX;SB5
LowMQ73
LowMQ;LowQD39
LowMQ;LowQD;SB142
LowMQ;SB58
LowQD628
LowQD;SB859
PASS31813
SB393

Quality Value
Min3.02
Average2726.79580315693
Max62523.88

Read Depth Value
Min1
Average175.80794452181988
Max2689

Type Total Variants
None0
32
22

Chromossome Total Variants
13683
101294
112505
121807
13551
14923
151105
161543
171909
18581
192559
22157
20746
21491
22857
32178
41436
51382
62003
71684
81102
91400
X562
Y6