Name: allfamilies AWL
Variants: 37977
Novel Variants: 548 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION66
CODON_CHANGE_PLUS_CODON_INSERTION29
CODON_DELETION33
CODON_INSERTION32
FRAME_SHIFT139
FRAME_SHIFT+SPLICE_SITE_REGION25
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_GAINED+SPLICE_SITE_REGION1
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0058.1:Max]4
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]5
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0080.2:PU1]1
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]15
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING8596
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION201
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS239
SPLICE_SITE_REGION17
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING221
START_GAINED134
START_LOST10
START_LOST+CODON_DELETION1
STOP_GAINED72
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST18
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9836
SYNONYMOUS_STOP6
TRANSCRIPT1
None0

Type Total Variants
785
MISSENSE8828
NONSENSE73
SILENT10063
None0

Type Total Variants
HIGH522
LOW10237
MODERATE8959
MODIFIER31
None0

Type Total Variants
PASS37977

Quality Value
Min12.0
Average1005.21365439346
Max3854.15

Read Depth Value
Min6
Average124.10453695657898
Max1686

Type Total Variants
None0
2|22
22

Chromossome Total Variants
13940
101545
112537
121997
13678
141111
151178
161604
172552
18647
192834
22543
20908
21524
22798
32172
41516
51743
62014
71663
81284
91486
X702
Y1