Name: grc14378022_exome
Variants: 56386
Novel Variants: 1452 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 56386 35259 0/1 20968 1/1 159 1/2
Total Gene-associated SNVs 56386 35259 0/1 20968 1/1 159 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION73
CODON_CHANGE_PLUS_CODON_INSERTION57
CODON_DELETION31
CODON_INSERTION38
FRAME_SHIFT147
FRAME_SHIFT+NON_SYNONYMOUS_CODING1
FRAME_SHIFT+SPLICE_SITE_REGION29
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_LOST3
FRAME_SHIFT+SYNONYMOUS_CODING1
MOTIF[MA0003.1:Ap2alpha]11
MOTIF[MA0014.1:Pax5]5
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0058.1:Max]4
MOTIF[MA0059.1:Cmyc]4
MOTIF[MA0062.1:Gabp]3
MOTIF[MA0062.2:Gabp]10
MOTIF[MA0079.1:SP1]4
MOTIF[MA0079.2:SP1]9
MOTIF[MA0080.1:PU1]3
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.2:Nrsf]5
MOTIF[MA0139.1:CTCF]35
MOTIF[MA0147.1:Cmyc]4
MOTIF[MA0154.1:EBF]2
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]19
NON_SYNONYMOUS_CODING10222
NON_SYNONYMOUS_CODING+CODON_CHANGE_PLUS_CODON_DELETION1
NON_SYNONYMOUS_CODING+CODON_DELETION2
NON_SYNONYMOUS_CODING+CODON_INSERTION2
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION186
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS264
SPLICE_SITE_REGION58
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING229
START_GAINED408
START_LOST12
STOP_GAINED122
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST26
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING10965
SYNONYMOUS_CODING+CODON_CHANGE_PLUS_CODON_INSERTION1
SYNONYMOUS_CODING+CODON_DELETION1
SYNONYMOUS_CODING+CODON_INSERTION1
SYNONYMOUS_STOP13
TRANSCRIPT1
None0

Type Total Variants
1270
MISSENSE10447
NONSENSE124
SILENT11207
None0

Type Total Variants
HIGH620
LOW11733
MODERATE10617
MODIFIER78
None0

Type Total Variants
.56386

Quality Value
Min13.5383
Average1009.60558932414
Max1484.14

Read Depth Value
Min2
Average70.2064342212606
Max4813

Type Total Variants
None0
2|22
23
51

Chromossome Total Variants
15580
102391
113587
122845
131191
141690
151936
162138
173258
18934
193698
23639
201539
21868
221401
33310
42354
52514
63180
72899
82015
92201
X1191
Y27