Name: lb9428 final
Variants: 162091
Novel Variants: 11927 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 162091 95658 0/1 66433 1/1
Total Gene-associated SNVs 162091 95658 0/1 66433 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION213
CODON_CHANGE_PLUS_CODON_INSERTION206
CODON_DELETION68
CODON_INSERTION187
FRAME_SHIFT994
FRAME_SHIFT+SPLICE_SITE_REGION94
FRAME_SHIFT+START_LOST7
FRAME_SHIFT+STOP_GAINED14
FRAME_SHIFT+STOP_LOST7
GENE_FUSION1
GENE_FUSION_REVERESE8
MOTIF_DELETED7
MOTIF[MA0003.1:Ap2alpha]21
MOTIF[MA0014.1:Pax5]9
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.1:FOXA2]3
MOTIF[MA0058.1:Max]22
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]5
MOTIF[MA0062.2:Gabp]35
MOTIF[MA0065.1:PPARG]2
MOTIF[MA0079.1:SP1]5
MOTIF[MA0079.2:SP1]24
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]3
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]5
MOTIF[MA0095.1:Yy1]13
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]3
MOTIF[MA0114.1:HNF4A]6
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]8
MOTIF[MA0139.1:CTCF]84
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]8
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]3
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]45
NON_SYNONYMOUS_CODING11195
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION244
NON_SYNONYMOUS_START2
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS138
SPLICE_SITE_REGION55
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING259
START_GAINED286
START_LOST7
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
START_LOST+CODON_DELETION1
STOP_GAINED98
STOP_GAINED+CODON_INSERTION3
STOP_GAINED+SPLICE_SITE_REGION1
STOP_GAINED+SPLICE_SITE_REGION+CODON_INSERTION1
STOP_LOST25
STOP_LOST+CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11654
SYNONYMOUS_STOP10
TRANSCRIPT2
None0

Type Total Variants
2622
MISSENSE11476
NONSENSE99
SILENT11923
None0

Type Total Variants
HIGH1406
LOW12453
MODERATE12117
MODIFIER144
None0

Type Total Variants
DP1010754
DP10;FilterSexChrom15
DP10;FilterSexChrom;GQ30.00463
DP10;FilterSexChrom;GQ30.00;TruthSensitivityTranche99.00to99.90131
DP10;FilterSexChrom;GQ30.00;TruthSensitivityTranche99.90to100.00317
DP10;FilterSexChrom;TruthSensitivityTranche99.00to99.9015
DP10;FilterSexChrom;TruthSensitivityTranche99.90to100.0031
DP10;GQ30.0026424
DP10;GQ30.00;TruthSensitivityTranche99.00to99.904731
DP10;GQ30.00;TruthSensitivityTranche99.90to100.009020
DP10;TruthSensitivityTranche99.00to99.901150
DP10;TruthSensitivityTranche99.90to100.002134
FilterSexChrom667
FilterSexChrom;GQ30.0034
FilterSexChrom;GQ30.00;TruthSensitivityTranche99.00to99.9047
FilterSexChrom;GQ30.00;TruthSensitivityTranche99.90to100.00235
FilterSexChrom;TruthSensitivityTranche99.00to99.90186
FilterSexChrom;TruthSensitivityTranche99.90to100.00503
GQ30.001095
GQ30.00;TruthSensitivityTranche99.00to99.901078
GQ30.00;TruthSensitivityTranche99.90to100.008189
PASS62356
TruthSensitivityTranche99.00to99.909224
TruthSensitivityTranche99.90to100.0023292

Quality Value
Min30.01
Average74264.9605184114
Max4070140.73

Read Depth Value
Min1
Average42.61113818780808
Max250

Type Total Variants
28
41
None0

Chromossome Total Variants
116432
107261
119351
128385
133208
145372
155807
166634
178985
182661
199530
212259
204178
212510
224246
38328
46586
57172
69123
78755
85672
96992
X2379
Y265