Name: sp16_820
Variants: 36757
Novel Variants: 783 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 36757 20832 0/1 16 0/2 15745 1/1 140 1/2 21 2/2 1 2/3 2 3/3
Total Gene-associated SNVs 36757 20832 0/1 16 0/2 15745 1/1 140 1/2 21 2/2 1 2/3 2 3/3

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION53
CODON_CHANGE_PLUS_CODON_INSERTION28
CODON_DELETION22
CODON_INSERTION25
FRAME_SHIFT129
FRAME_SHIFT+SPLICE_SITE_REGION25
FRAME_SHIFT+START_LOST1
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_LOST4
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]3
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]4
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0139.1:CTCF]10
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]1
NON_SYNONYMOUS_CODING8264
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION194
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS132
SPLICE_SITE_REGION15
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING216
START_GAINED140
START_LOST9
STOP_GAINED56
STOP_GAINED+CODON_INSERTION1
STOP_LOST19
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9595
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
None0

Type Total Variants
HIGH382
LOW9995
MODERATE8587
MODIFIER23
None0

Type Total Variants
PASS36757

Quality Value
Min10.0
Average454.597078202792
Max3825.52

Read Depth Value
Min5
Average89.63013847702479
Max954

Type Total Variants
None0
24
2|21
31

Chromossome Total Variants
14113
101441
112502
121986
13737
141064
151190
161772
172363
18649
192781
22566
20798
21488
22824
31676
41443
51657
61800
71665
81233
91455
X549
Y5