Name: grc14378021_exome
Variants: 55304
Novel Variants: 1552 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 55304 34049 0/1 21084 1/1 171 1/2
Total Gene-associated SNVs 55304 34049 0/1 21084 1/1 171 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION83
CODON_CHANGE_PLUS_CODON_INSERTION47
CODON_DELETION35
CODON_INSERTION36
FRAME_SHIFT154
FRAME_SHIFT+NON_SYNONYMOUS_CODING1
FRAME_SHIFT+SPLICE_SITE_REGION27
FRAME_SHIFT+SPLICE_SITE_REGION+SYNONYMOUS_CODING1
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]11
MOTIF[MA0014.1:Pax5]5
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]4
MOTIF[MA0059.1:Cmyc]3
MOTIF[MA0062.1:Gabp]7
MOTIF[MA0062.2:Gabp]13
MOTIF[MA0079.1:SP1]4
MOTIF[MA0079.2:SP1]11
MOTIF[MA0080.1:PU1]1
MOTIF[MA0095.1:Yy1]6
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.2:Nrsf]5
MOTIF[MA0139.1:CTCF]21
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0154.1:EBF]1
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]14
NON_SYNONYMOUS_CODING10494
NON_SYNONYMOUS_CODING+CODON_DELETION1
NON_SYNONYMOUS_CODING+CODON_INSERTION1
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION188
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS242
SPLICE_SITE_REGION60
SPLICE_SITE_REGION+SYNONYMOUS_CODING224
START_GAINED410
START_LOST8
STOP_GAINED120
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING10795
SYNONYMOUS_CODING+CODON_DELETION1
SYNONYMOUS_STOP11
None0

Type Total Variants
1240
MISSENSE10711
NONSENSE120
SILENT11030
None0

Type Total Variants
HIGH590
LOW11564
MODERATE10886
MODIFIER61
None0

Type Total Variants
.55304

Quality Value
Min13.5356
Average934.305873470669
Max1484.14

Read Depth Value
Min2
Average60.996871835671925
Max2265

Type Total Variants
None0
41
2|22
22

Chromossome Total Variants
15688
102254
113297
122772
131237
141740
151924
162093
173235
181015
193443
23356
201433
21821
221298
33319
42301
52490
63474
72685
82089
92257
X1047
Y36