Name: 12419
Variants: 161171
Novel Variants: 10232 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 161171 67674 0/1 93091 1/1 406 1/0
Total Gene-associated SNVs 161171 67674 0/1 93091 1/1 406 1/0

Type Total Variants
33
CODON_CHANGE_PLUS_CODON_DELETION109
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION1
CODON_CHANGE_PLUS_CODON_INSERTION71
CODON_DELETION51
CODON_DELETION+SPLICE_SITE_REGION1
CODON_INSERTION59
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT171
FRAME_SHIFT+SPLICE_SITE_REGION24
FRAME_SHIFT+START_LOST4
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST4
MOTIF_DELETED6
MOTIF[MA0003.1:Ap2alpha]32
MOTIF[MA0005.1:MEF2C]1
MOTIF[MA0014.1:Pax5]10
MOTIF[MA0016.1:RXRA]6
MOTIF[MA0024.1:E2F1]9
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]17
MOTIF[MA0059.1:Cmyc]5
MOTIF[MA0062.1:Gabp]7
MOTIF[MA0062.2:Gabp]25
MOTIF[MA0079.1:SP1]16
MOTIF[MA0079.2:SP1]27
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]5
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]7
MOTIF[MA0095.1:Yy1]14
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0099.2:AP1]4
MOTIF[MA0114.1:HNF4A]7
MOTIF[MA0138.1:Nrsf]2
MOTIF[MA0138.2:Nrsf]9
MOTIF[MA0139.1:CTCF]106
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]13
MOTIF[MA0154.1:EBF]6
MOTIF[MA0159.1:RXR]3
MOTIF[MA0162.1:Egr1]70
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING6789
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION143
NON_SYNONYMOUS_START2
PROTEIN_INTERACTION_LOCUS23
SPLICE_SITE_REGION70
SPLICE_SITE_REGION+SYNONYMOUS_CODING145
START_GAINED264
START_LOST8
STOP_GAINED59
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST11
SYNONYMOUS_CODING7397
SYNONYMOUS_STOP3
TRANSCRIPT4
None0

Type Total Variants
1307
MISSENSE6953
NONSENSE62
SILENT7545
None0

Type Total Variants
HIGH309
LOW8094
MODERATE7225
MODIFIER239
None0

Type Total Variants
LowCoverage54374
LowCoverage;LowQual18223
LowCoverage;LowQual;SnpCluster655
LowCoverage;SnpCluster5222
LowQD820
LowQD;LowQual330
LowQD;LowQual;SnpCluster67
LowQD;SnpCluster262
LowQual794
LowQual;SnpCluster89
PASS75407
SnpCluster4928

Quality Value
Min30.0
Average804.36084171401
Max105063.0

Read Depth Value
Min0
Average48.107221522482334
Max6720

Type Total Variants
None0
32
24
5|51
2|21

Chromossome Total Variants
113927
107718
117999
127382
133694
144368
155439
167879
177760
183411
197822
211806
204146
213758
223598
38376
47915
56378
69825
78856
85594
97439
M33
X4093
Y1955