Name: 94310feb
Variants: 187002
Novel Variants: 4203 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 187002 103819 0/1 554 1/0 82629 1/1
Total Gene-associated SNVs 187002 103819 0/1 554 1/0 82629 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION141
CODON_CHANGE_PLUS_CODON_INSERTION116
CODON_DELETION70
CODON_INSERTION88
FRAME_SHIFT340
FRAME_SHIFT+SPLICE_SITE_REGION42
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST6
GENE_FUSION_REVERESE1
MOTIF_DELETED10
MOTIF[MA0003.1:Ap2alpha]39
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]5
MOTIF[MA0024.1:E2F1]7
MOTIF[MA0035.1:Gata1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]22
MOTIF[MA0059.1:Cmyc]6
MOTIF[MA0062.1:Gabp]12
MOTIF[MA0062.2:Gabp]36
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]11
MOTIF[MA0079.2:SP1]33
MOTIF[MA0080.1:PU1]3
MOTIF[MA0080.2:PU1]1
MOTIF[MA0083.1:Srf]1
MOTIF[MA0093.1:USF1]12
MOTIF[MA0095.1:Yy1]16
MOTIF[MA0099.1:Cfos]3
MOTIF[MA0099.2:AP1]3
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]11
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.2:Nrsf]9
MOTIF[MA0139.1:CTCF]119
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]15
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]10
MOTIF[MA0159.1:RXR]2
MOTIF[MA0162.1:Egr1]57
NON_SYNONYMOUS_CODING11809
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION256
NON_SYNONYMOUS_START3
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS262
SPLICE_SITE_REGION100
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING265
START_GAINED452
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED126
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST27
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING12073
SYNONYMOUS_STOP9
TRANSCRIPT5
None0

Type Total Variants
2099
MISSENSE12109
NONSENSE128
SILENT12347
None0

Type Total Variants
HIGH835
LOW13132
MODERATE12482
MODIFIER234
None0

Type Total Variants
LowCoverage37303
LowCoverage;LowQual12293
LowCoverage;LowQual;SnpCluster274
LowCoverage;SnpCluster1219
LowQD540
LowQD;LowQual249
LowQD;LowQual;SnpCluster53
LowQD;SnpCluster196
LowQual913
LowQual;SnpCluster38
PASS129362
SnpCluster4562

Quality Value
Min30.07
Average963.409792783346
Max157004.0

Read Depth Value
Min0
Average54.995192564785405
Max6219

Type Total Variants
None0

Chromossome Total Variants
118414
108516
1110969
1210335
133558
146478
156626
167760
179915
182902
1911005
213180
204786
212923
224519
310897
47781
58086
610992
79931
86612
97996
X2709
Y112