Name: final-ma145
Variants: 473648
Novel Variants: 10678 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 473648 137303 0/1 6509 1 329525 1/1 311 1/2
Total Gene-associated SNVs 473648 137303 0/1 6509 1 329525 1/1 311 1/2

Type Total Variants
41
CODON_CHANGE_PLUS_CODON_DELETION128
CODON_CHANGE_PLUS_CODON_INSERTION88
CODON_DELETION59
CODON_INSERTION72
FRAME_SHIFT261
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED2
FRAME_SHIFT+STOP_LOST4
GENE_FUSION_REVERESE1
MOTIF_DELETED5
MOTIF[MA0003.1:Ap2alpha]50
MOTIF[MA0014.1:Pax5]8
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]7
MOTIF[MA0035.1:Gata1]2
MOTIF[MA0035.2:Gata1]3
MOTIF[MA0036.1:Gata2]6
MOTIF[MA0047.1:FOXA2]5
MOTIF[MA0047.2:FOXA2]11
MOTIF[MA0058.1:Max]44
MOTIF[MA0059.1:Cmyc]10
MOTIF[MA0062.1:Gabp]13
MOTIF[MA0062.2:Gabp]39
MOTIF[MA0065.1:PPARG]7
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0074.1:RXRA]2
MOTIF[MA0079.1:SP1]16
MOTIF[MA0079.2:SP1]47
MOTIF[MA0080.1:PU1]4
MOTIF[MA0080.2:PU1]8
MOTIF[MA0083.1:Srf]4
MOTIF[MA0093.1:USF1]36
MOTIF[MA0095.1:Yy1]22
MOTIF[MA0099.1:Cfos]12
MOTIF[MA0099.2:AP1]10
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]23
MOTIF[MA0138.2:Nrsf]23
MOTIF[MA0139.1:CTCF]279
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]33
MOTIF[MA0148.1:FOXA1]3
MOTIF[MA0154.1:EBF]14
MOTIF[MA0159.1:RXR]6
MOTIF[MA0162.1:Egr1]50
NON_SYNONYMOUS_CODING11133
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION237
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS277
SPLICE_SITE_REGION47
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING272
START_GAINED330
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION2
STOP_GAINED95
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST25
STOP_LOST+SPLICE_SITE_REGION4
SYNONYMOUS_CODING11906
SYNONYMOUS_STOP8
TRANSCRIPT4
None0

Type Total Variants
2180
MISSENSE11410
NONSENSE96
SILENT12186
None0

Type Total Variants
HIGH732
LOW12892
MODERATE11721
MODIFIER527
None0

Type Total Variants
IndelQualityByDepth;VQSRTrancheINDEL91.00to92.004
IndelQualityByDepth;VQSRTrancheINDEL92.00to93.003
IndelQualityByDepth;VQSRTrancheINDEL93.00to94.002
IndelQualityByDepth;VQSRTrancheINDEL94.00to95.003
IndelQualityByDepth;VQSRTrancheINDEL95.00to96.0024
IndelQualityByDepth;VQSRTrancheINDEL96.00to97.006
IndelQualityByDepth;VQSRTrancheINDEL97.00to98.004
IndelQualityByDepth;VQSRTrancheINDEL98.00to99.002
IndelQualityByDepth;VQSRTrancheINDEL99.00to99.9051
IndelQualityByDepth;VQSRTrancheINDEL99.00to99.90+49
MappingQuality29
MappingQuality;QualityByDepth;StrandBias;VQSRTrancheSNP99.90to100.001
MappingQuality;QualityByDepth;VQSRTrancheSNP99.00to99.9018
MappingQuality;QualityByDepth;VQSRTrancheSNP99.90to100.00172
MappingQuality;RefVsAltReadPos;VQSRTrancheSNP99.90to100.001
MappingQuality;StrandBias;VQSRTrancheSNP99.00to99.901
MappingQuality;StrandBias;VQSRTrancheSNP99.90to100.0014
MappingQuality;VQSRTrancheSNP99.00to99.905421
MappingQuality;VQSRTrancheSNP99.90to100.005366
PASS419196
QualityByDepth79
QualityByDepth;RefVsAltQuality;VQSRTrancheSNP99.90to100.002
QualityByDepth;StrandBias;VQSRTrancheSNP99.90to100.0016
QualityByDepth;VQSRTrancheSNP99.00to99.90404
QualityByDepth;VQSRTrancheSNP99.90to100.00494
RefVsAltQuality;RefVsAltReadPos;VQSRTrancheSNP99.90to100.002
RefVsAltQuality;StrandBias;VQSRTrancheSNP99.90to100.005
RefVsAltQuality;VQSRTrancheSNP99.90to100.0096
StrandBias3
StrandBias;VQSRTrancheSNP99.00to99.908
StrandBias;VQSRTrancheSNP99.90to100.0067
VQSRTrancheINDEL90.00to91.00374
VQSRTrancheINDEL91.00to92.00378
VQSRTrancheINDEL92.00to93.00429
VQSRTrancheINDEL93.00to94.001651
VQSRTrancheINDEL94.00to95.002242
VQSRTrancheINDEL95.00to96.001522
VQSRTrancheINDEL96.00to97.00825
VQSRTrancheINDEL97.00to98.00881
VQSRTrancheINDEL98.00to99.001088
VQSRTrancheINDEL99.00to99.901976
VQSRTrancheINDEL99.00to99.90+299
VQSRTrancheSNP99.00to99.9027644
VQSRTrancheSNP99.90to100.002796

Quality Value
Min30.01
Average410.941554721226
Max87624.77

Read Depth Value
Min0
Average21.277203746241934
Max2567

Type Total Variants
None0
5|5|51
41
2|22
24
52
5|51

Chromossome Total Variants
139790
1024989
1125336
1221813
1313917
1415097
1515516
1620844
1720436
1811812
1917413
236775
2012792
219336
2211066
326225
427085
523527
623186
726449
822018
921676
M41
X4971
Y1538