Name: exome_4_els var annotated
Variants: 9999
Novel Variants: 3331 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 9999 7620 0/1 2379 1/1
Total Gene-associated SNVs 9999 7620 0/1 2379 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION6
CODON_CHANGE_PLUS_CODON_INSERTION1
CODON_INSERTION3
FRAME_SHIFT39
FRAME_SHIFT+SPLICE_SITE_REGION7
FRAME_SHIFT+START_LOST2
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0058.1:Max]1
MOTIF[MA0139.1:CTCF]3
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]1
NON_SYNONYMOUS_CODING2074
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION86
NON_SYNONYMOUS_START1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS57
SPLICE_SITE_REGION3
SPLICE_SITE_REGION+SYNONYMOUS_CODING36
START_GAINED11
STOP_GAINED39
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST3
SYNONYMOUS_CODING1466
SYNONYMOUS_STOP2
None0

Type Total Variants
136
MISSENSE2164
NONSENSE42
SILENT1504
None0

Type Total Variants
HIGH150
LOW1521
MODERATE2170
MODIFIER5
None0

Type Total Variants
GATKStandard320
GATKStandard;LowQual12
GATKStandard;repeat30
LowQual838
PASS5841
repeat10
TruthSensitivityTranche99.00to99.902468
TruthSensitivityTranche99.90to100.00480

Quality Value
Min10.02
Average507.557999799978
Max7060.13

Read Depth Value
Min0
Average35.55955595559556
Max249

Type Total Variants
None0

Chromossome Total Variants
18014
21985