Name: mmg003343
Variants: 140382
Novel Variants: 4675 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 140382 62760 0/1 396 1/0 77226 1/1
Total Gene-associated SNVs 140382 62760 0/1 396 1/0 77226 1/1

Type Total Variants
41
CODON_CHANGE_PLUS_CODON_DELETION73
CODON_CHANGE_PLUS_CODON_INSERTION58
CODON_DELETION31
CODON_INSERTION54
FRAME_SHIFT69
FRAME_SHIFT+SPLICE_SITE_REGION13
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST1
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]30
MOTIF[MA0005.1:MEF2C]1
MOTIF[MA0014.1:Pax5]12
MOTIF[MA0016.1:RXRA]4
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0058.1:Max]18
MOTIF[MA0059.1:Cmyc]7
MOTIF[MA0062.1:Gabp]12
MOTIF[MA0062.2:Gabp]22
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0079.1:SP1]9
MOTIF[MA0079.2:SP1]16
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]5
MOTIF[MA0093.1:USF1]4
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]6
MOTIF[MA0114.1:HNF4A]7
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]3
MOTIF[MA0138.2:Nrsf]6
MOTIF[MA0139.1:CTCF]92
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]10
MOTIF[MA0148.1:FOXA1]4
MOTIF[MA0154.1:EBF]4
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]32
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING6445
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION146
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS157
SPLICE_SITE_REGION58
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING147
SPLICE_SITE_REGION+SYNONYMOUS_STOP1
START_GAINED249
START_LOST12
STOP_GAINED49
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST14
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING6941
SYNONYMOUS_STOP3
TRANSCRIPT1
None0

Type Total Variants
1146
MISSENSE6619
NONSENSE51
SILENT7092
None0

Type Total Variants
HIGH329
LOW7544
MODERATE6808
MODIFIER227
None0

Type Total Variants
HARD_TO_VALIDATE591
HARD_TO_VALIDATE;LowCoverage1
HARD_TO_VALIDATE;LowCoverage;LowQual3
HARD_TO_VALIDATE;LowCoverage;LowQual;SnpCluster;VeryLowQual4
HARD_TO_VALIDATE;LowCoverage;LowQual;VeryLowQual3
HARD_TO_VALIDATE;LowQD57
HARD_TO_VALIDATE;LowQD;LowQual19
HARD_TO_VALIDATE;LowQD;LowQual;SnpCluster5
HARD_TO_VALIDATE;LowQD;LowQual;SnpCluster;VeryLowQual11
HARD_TO_VALIDATE;LowQD;LowQual;VeryLowQual41
HARD_TO_VALIDATE;LowQD;SnpCluster27
HARD_TO_VALIDATE;LowQual27
HARD_TO_VALIDATE;LowQual;SnpCluster4
HARD_TO_VALIDATE;LowQual;VeryLowQual11
HARD_TO_VALIDATE;SnpCluster218
LowCoverage32730
LowCoverage;LowQD;LowQual;SnpCluster;VeryLowQual6
LowCoverage;LowQD;LowQual;VeryLowQual9
LowCoverage;LowQual18525
LowCoverage;LowQual;SnpCluster390
LowCoverage;LowQual;SnpCluster;VeryLowQual1286
LowCoverage;LowQual;VeryLowQual9767
LowCoverage;SnpCluster795
LowQD606
LowQD;LowQual317
LowQD;LowQual;SnpCluster51
LowQD;LowQual;SnpCluster;VeryLowQual43
LowQD;LowQual;VeryLowQual114
LowQD;SnpCluster154
LowQual845
LowQual;SnpCluster54
LowQual;SnpCluster;VeryLowQual14
LowQual;VeryLowQual48
PASS70712
SnpCluster2894

Quality Value
Min10.2
Average546.327285621315
Max72275.8

Read Depth Value
Min1
Average33.36513940533687
Max5192

Type Total Variants
None0

Chromossome Total Variants
112665
106793
116728
126692
133589
143937
154678
166274
176929
182983
196280
211024
203351
213250
223163
37724
46643
55707
69529
77271
84899
96359
M41
X2454
Y1419