Name: gordonsepilepsy normalized 2486
Variants: 263108
Novel Variants: 9639 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 263108 107588 0/1 781 ./1 781 1/. 153958 1/1
Total Gene-associated SNVs 263108 107588 0/1 781 ./1 781 1/. 153958 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION160
CODON_CHANGE_PLUS_CODON_INSERTION101
CODON_DELETION61
CODON_INSERTION87
FRAME_SHIFT331
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST4
GENE_FUSION2
GENE_FUSION_REVERESE1
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]42
MOTIF[MA0014.1:Pax5]11
MOTIF[MA0016.1:RXRA]5
MOTIF[MA0024.1:E2F1]10
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]3
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]22
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]10
MOTIF[MA0062.2:Gabp]34
MOTIF[MA0065.1:PPARG]4
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]9
MOTIF[MA0079.2:SP1]37
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]6
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]14
MOTIF[MA0095.1:Yy1]16
MOTIF[MA0099.1:Cfos]3
MOTIF[MA0099.2:AP1]4
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]18
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]9
MOTIF[MA0139.1:CTCF]153
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]16
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]8
MOTIF[MA0159.1:RXR]5
MOTIF[MA0162.1:Egr1]56
NON_SYNONYMOUS_CODING11749
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION236
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS250
SPLICE_SITE_REGION40
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING250
START_GAINED342
START_LOST15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED119
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION4
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11892
SYNONYMOUS_STOP10
TRANSCRIPT3
None0

Type Total Variants
1954
MISSENSE12031
NONSENSE123
SILENT12152
None0

Type Total Variants
HIGH812
LOW12764
MODERATE12397
MODIFIER287
None0

Type Total Variants
.263108

Quality Value
Min30.0
Average2114.35777935245
Max58463.7

Read Depth Value
Min0
Average25.31093695364641
Max472

Type Total Variants
None0
2|22
24

Chromossome Total Variants
123414
1012125
1114638
1212793
136299
148796
158663
1611116
1713513
185374
1913584
219431
207011
214679
225842
313677
412250
511336
615620
714999
810011
911474
MT30
X5540
Y893