Name: h0p2m6 variants
Variants: 48008
Novel Variants: 474 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 48008 31150 0/1 16858 1/1
Total Gene-associated SNVs 48008 31150 0/1 16858 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION138
CODON_CHANGE_PLUS_CODON_INSERTION70
CODON_DELETION60
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION59
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT209
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST8
FRAME_SHIFT+STOP_GAINED7
FRAME_SHIFT+STOP_LOST3
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]6
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]2
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]3
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.2:SP1]3
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]19
MOTIF[MA0147.1:Cmyc]3
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0162.1:Egr1]9
NON_SYNONYMOUS_CODING10836
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION237
NON_SYNONYMOUS_START1
PROTEIN_INTERACTION_LOCUS45
SPLICE_SITE_REGION14
SPLICE_SITE_REGION+SYNONYMOUS_CODING240
SPLICE_SITE_REGION+SYNONYMOUS_STOP1
START_GAINED116
START_LOST15
START_LOST+CODON_DELETION1
STOP_GAINED94
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11512
SYNONYMOUS_STOP12
None0

Type Total Variants
839
MISSENSE11120
NONSENSE96
SILENT11765
None0

Type Total Variants
HIGH456
LOW11929
MODERATE11402
MODIFIER33
None0

Type Total Variants
ABlow1962
ABlow;DPhigh580
ABlow;DPhigh;FShigh157
ABlow;DPlow5
ABlow;FShigh198
DPhigh;FShigh55
DPlow108
FShigh266
PASS44677

Quality Value
Min30.73
Average61747.2502026704
Max1171981.74

Read Depth Value
Min0
Average73.12570821529745
Max1725

Type Total Variants
None0
31
24
2|21

Chromossome Total Variants
15036
102009
112954
122473
13849
141755
151652
162047
172632
18779
193442
23310
201110
21661
221160
32426
41844
52101
62617
72388
81755
91936
MT82
X990