Name: gordonsepilepsy normalized 2484
Variants: 261638
Novel Variants: 10876 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 261638 104095 0/1 732 ./1 732 1/. 156079 1/1
Total Gene-associated SNVs 261638 104095 0/1 732 ./1 732 1/. 156079 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION153
CODON_CHANGE_PLUS_CODON_INSERTION100
CODON_DELETION57
CODON_INSERTION80
FRAME_SHIFT297
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST4
GENE_FUSION1
GENE_FUSION_REVERESE2
MOTIF_DELETED7
MOTIF[MA0003.1:Ap2alpha]30
MOTIF[MA0014.1:Pax5]8
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]28
MOTIF[MA0059.1:Cmyc]4
MOTIF[MA0062.1:Gabp]7
MOTIF[MA0062.2:Gabp]38
MOTIF[MA0065.1:PPARG]4
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0074.1:RXRA]1
MOTIF[MA0079.1:SP1]13
MOTIF[MA0079.2:SP1]53
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]4
MOTIF[MA0083.1:Srf]3
MOTIF[MA0093.1:USF1]15
MOTIF[MA0095.1:Yy1]15
MOTIF[MA0099.1:Cfos]4
MOTIF[MA0099.2:AP1]4
MOTIF[MA0114.1:HNF4A]11
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]8
MOTIF[MA0139.1:CTCF]156
MOTIF[MA0147.1:Cmyc]17
MOTIF[MA0154.1:EBF]7
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]64
NON_SYNONYMOUS_CODING11337
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION247
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS248
SPLICE_SITE_REGION47
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING237
START_GAINED340
START_LOST11
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED110
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST25
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11667
SYNONYMOUS_STOP14
TRANSCRIPT6
None0

Type Total Variants
1912
MISSENSE11623
NONSENSE112
SILENT11918
None0

Type Total Variants
HIGH758
LOW12545
MODERATE11977
MODIFIER285
None0

Type Total Variants
.261638

Quality Value
Min30.01
Average2204.09640098092
Max58463.7

Read Depth Value
Min0
Average25.577901528065496
Max545

Type Total Variants
None0
2|22
26
31
5|51

Chromossome Total Variants
122916
1012436
1114417
1212524
136488
148879
158858
1611456
1713430
185261
1913633
219298
206699
214555
226134
313491
412983
511694
615722
714745
810168
911374
MT46
X3495
Y936