Name: ee
Variants: 88729
Novel Variants: 1240 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 88729 50332 0/1 38069 1/1 328 1/2
Total Gene-associated SNVs 88729 50332 0/1 38069 1/1 328 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION130
CODON_CHANGE_PLUS_CODON_INSERTION81
CODON_DELETION58
CODON_INSERTION65
FRAME_SHIFT207
FRAME_SHIFT+SPLICE_SITE_REGION40
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST4
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]12
MOTIF[MA0014.1:Pax5]2
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0058.1:Max]12
MOTIF[MA0059.1:Cmyc]2
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]20
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]13
MOTIF[MA0080.1:PU1]1
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]3
MOTIF[MA0095.1:Yy1]5
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]3
MOTIF[MA0139.1:CTCF]58
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]9
MOTIF[MA0154.1:EBF]2
MOTIF[MA0162.1:Egr1]20
NON_SYNONYMOUS_CODING10231
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION235
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS139
SPLICE_SITE_REGION30
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING249
START_GAINED206
START_LOST6
STOP_GAINED70
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST18
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11173
SYNONYMOUS_STOP8
TRANSCRIPT1
None0

Type Total Variants
1163
MISSENSE10495
NONSENSE72
SILENT11430
None0

Type Total Variants
HIGH506
LOW11755
MODERATE10802
MODIFIER97
None0

Type Total Variants
PASS83996
VQSRTrancheINDEL99.00to99.90252
VQSRTrancheINDEL99.90to100.0035
VQSRTrancheSNP99.00to99.903164
VQSRTrancheSNP99.90to100.001282

Quality Value
Min30.1
Average1319.20503172504
Max24899.77

Read Depth Value
Min0
Average73.74028784275716
Max838

Type Total Variants
None0
2|22
23
31

Chromossome Total Variants
19383
103987
115242
124920
131729
143245
153223
163846
175069
181404
196165
26334
202362
211259
222118
34753
43583
53667
63738
74680
83062
93729
X1194
Y37