Name: gordonsepilepsy filtered 2486
Variants: 29690
Novel Variants: 135 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION77
CODON_CHANGE_PLUS_CODON_INSERTION62
CODON_DELETION33
CODON_INSERTION49
FRAME_SHIFT138
FRAME_SHIFT+SPLICE_SITE_REGION3
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED1
MOTIF[MA0003.1:Ap2alpha]4
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0058.1:Max]3
MOTIF[MA0079.2:SP1]2
MOTIF[MA0080.2:PU1]1
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]7
MOTIF[MA0162.1:Egr1]2
NON_SYNONYMOUS_CODING6825
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION127
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS165
SPLICE_SITE_REGION12
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING148
START_GAINED63
START_LOST8
START_LOST+CODON_DELETION1
STOP_GAINED50
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST6
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING7043
SYNONYMOUS_STOP4
None0

Type Total Variants
635
MISSENSE6969
NONSENSE52
SILENT7195
None0

Type Total Variants
HIGH381
LOW7284
MODERATE7174
MODIFIER12
None0

Type Total Variants
LowDepth21
PASS29669

Quality Value
Min30.15
Average6193.37226439811
Max53443.7

Read Depth Value
Min1
Average72.22933647692825
Max456

Type Total Variants
None0
2|22
24

Chromossome Total Variants
14457
101734
113270
121813
22952
32383
41773
51925
63128
72109
81520
91819
X807