Name: gordonsepilepsy normalized 2077
Variants: 154734
Novel Variants: 3565 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 154734 85281 0/1 508 ./1 508 1/. 68437 1/1
Total Gene-associated SNVs 154734 85281 0/1 508 ./1 508 1/. 68437 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION141
CODON_CHANGE_PLUS_CODON_INSERTION77
CODON_DELETION47
CODON_INSERTION63
FRAME_SHIFT286
FRAME_SHIFT+SPLICE_SITE_REGION34
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST3
GENE_FUSION4
GENE_FUSION_REVERESE1
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]7
MOTIF[MA0014.1:Pax5]8
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]10
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]9
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]13
MOTIF[MA0080.2:PU1]2
MOTIF[MA0093.1:USF1]4
MOTIF[MA0095.1:Yy1]6
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.2:Nrsf]7
MOTIF[MA0139.1:CTCF]100
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]5
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]3
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]20
NON_SYNONYMOUS_CODING11267
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION248
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS235
SPLICE_SITE_REGION38
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING235
START_GAINED203
START_LOST13
STOP_GAINED122
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST23
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11293
SYNONYMOUS_STOP11
TRANSCRIPT1
None0

Type Total Variants
1373
MISSENSE11555
NONSENSE125
SILENT11539
None0

Type Total Variants
HIGH739
LOW11864
MODERATE11846
MODIFIER143
None0

Type Total Variants
.154734

Quality Value
Min30.01
Average3345.86699187019
Max58463.7

Read Depth Value
Min0
Average27.72331226491915
Max571

Type Total Variants
None0
2|22
25
5|51

Chromossome Total Variants
114843
107122
119177
127667
133448
145603
155557
165968
178044
182804
198083
211854
203871
212428
223423
37856
46845
56393
69571
79055
85318
96794
MT30
X2213
Y767