Name: damb121 variants
Variants: 62694
Novel Variants: 1004 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 62694 5484 0|1 34518 0/1 2042 1|1 20325 1/1 23 1|2 302 1/2
Total Gene-associated SNVs 62694 5484 0|1 34518 0/1 2042 1|1 20325 1/1 23 1|2 302 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION96
CODON_CHANGE_PLUS_CODON_INSERTION72
CODON_DELETION41
CODON_INSERTION62
FRAME_SHIFT287
FRAME_SHIFT+SPLICE_SITE_REGION37
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST4
MOTIF_DELETED2
MOTIF[MA0003.1:Ap2alpha]8
MOTIF[MA0014.1:Pax5]3
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]7
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]12
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]6
MOTIF[MA0080.2:PU1]1
MOTIF[MA0095.1:Yy1]7
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0138.2:Nrsf]3
MOTIF[MA0139.1:CTCF]38
MOTIF[MA0147.1:Cmyc]1
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]7
NON_SYNONYMOUS_CODING10799
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION205
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS232
SPLICE_SITE_REGION23
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING210
START_GAINED120
START_LOST15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED112
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST22
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING10891
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
1097
MISSENSE11043
NONSENSE115
SILENT11110
None0

Type Total Variants
HIGH729
LOW11305
MODERATE11279
MODIFIER52
None0

Type Total Variants
FS200;FS60;MQ40;QD2;SOR3;VQSRTrancheSNP99.90to100.001
FS200;FS60;MQ40;SOR3;VQSRTrancheSNP99.90to100.0012
FS200;FS60;QD2;SOR3;VQSRTrancheSNP99.90to100.002
FS200;FS60;SOR3;VQSRTrancheINDEL99.90to100.002
FS200;FS60;SOR3;VQSRTrancheSNP99.90to100.005
FS603
FS60;MQ40;MQRankSum-12.5;SOR3;VQSRTrancheSNP99.90to100.001
FS60;MQ40;QD2;SOR3;VQSRTrancheSNP99.90to100.003
FS60;MQ40;SOR3;VQSRTrancheINDEL99.90to100.003
FS60;MQ40;SOR3;VQSRTrancheSNP99.90to100.0081
FS60;MQ40;VQSRTrancheSNP99.90to100.0015
FS60;QD2;SOR3;VQSRTrancheINDEL99.50to99.901
FS60;QD2;SOR3;VQSRTrancheSNP99.90to100.0021
FS60;SOR3;VQSRTrancheINDEL99.50to99.908
FS60;SOR3;VQSRTrancheINDEL99.90to100.007
FS60;SOR3;VQSRTrancheSNP99.50to99.902
FS60;SOR3;VQSRTrancheSNP99.90to100.00150
FS60;VQSRTrancheINDEL99.50to99.906
FS60;VQSRTrancheINDEL99.90to100.001
FS60;VQSRTrancheSNP99.50to99.901
FS60;VQSRTrancheSNP99.90to100.0012
MQ4040
MQ40;QD21
MQ40;QD2;SOR3;VQSRTrancheINDEL99.50to99.901
MQ40;QD2;SOR3;VQSRTrancheINDEL99.90to100.001
MQ40;QD2;SOR3;VQSRTrancheSNP99.90to100.0012
MQ40;QD2;VQSRTrancheINDEL99.00to99.501
MQ40;QD2;VQSRTrancheINDEL99.50to99.903
MQ40;QD2;VQSRTrancheSNP99.50to99.9015
MQ40;QD2;VQSRTrancheSNP99.90to100.0074
MQ40;SOR34
MQ40;SOR3;VQSRTrancheINDEL99.00to99.507
MQ40;SOR3;VQSRTrancheINDEL99.50to99.907
MQ40;SOR3;VQSRTrancheINDEL99.90to100.004
MQ40;SOR3;VQSRTrancheSNP99.90to100.00272
MQ40;VQSRTrancheINDEL99.00to99.5029
MQ40;VQSRTrancheINDEL99.50to99.904
MQ40;VQSRTrancheSNP99.50to99.90412
MQ40;VQSRTrancheSNP99.90to100.00910
MQRankSum-12.54
MQRankSum-12.5;QD2;ReadPosRankSum-8;VQSRTrancheSNP99.90to100.001
MQRankSum-12.5;QD2;SOR3;VQSRTrancheSNP99.90to100.007
MQRankSum-12.5;QD2;VQSRTrancheINDEL99.00to99.502
MQRankSum-12.5;QD2;VQSRTrancheINDEL99.50to99.902
MQRankSum-12.5;QD2;VQSRTrancheINDEL99.90to100.002
MQRankSum-12.5;QD2;VQSRTrancheSNP99.50to99.9020
MQRankSum-12.5;QD2;VQSRTrancheSNP99.90to100.0031
MQRankSum-12.5;ReadPosRankSum-8;VQSRTrancheINDEL99.90to100.001
MQRankSum-12.5;ReadPosRankSum-8;VQSRTrancheSNP99.90to100.005
MQRankSum-12.5;SOR3;VQSRTrancheSNP99.90to100.006
MQRankSum-12.5;VQSRTrancheINDEL99.50to99.909
MQRankSum-12.5;VQSRTrancheINDEL99.90to100.004
MQRankSum-12.5;VQSRTrancheSNP99.50to99.90109
MQRankSum-12.5;VQSRTrancheSNP99.90to100.0075
PASS54488
QD2186
QD2;SOR32
QD2;SOR3;VQSRTrancheINDEL99.00to99.504
QD2;SOR3;VQSRTrancheINDEL99.50to99.907
QD2;SOR3;VQSRTrancheINDEL99.90to100.005
QD2;SOR3;VQSRTrancheSNP99.50to99.907
QD2;SOR3;VQSRTrancheSNP99.90to100.00132
QD2;VQSRTrancheINDEL99.00to99.5013
QD2;VQSRTrancheINDEL99.50to99.9035
QD2;VQSRTrancheSNP99.50to99.90371
QD2;VQSRTrancheSNP99.90to100.0085
ReadPosRankSum-8;VQSRTrancheINDEL99.90to100.002
ReadPosRankSum-8;VQSRTrancheSNP99.90to100.004
SOR387
SOR3;VQSRTrancheINDEL99.00to99.5013
SOR3;VQSRTrancheINDEL99.50to99.9044
SOR3;VQSRTrancheINDEL99.90to100.002
SOR3;VQSRTrancheSNP99.50to99.9033
SOR3;VQSRTrancheSNP99.90to100.00205
VQSRTrancheINDEL99.00to99.50221
VQSRTrancheINDEL99.50to99.90127
VQSRTrancheINDEL99.90to100.006
VQSRTrancheSNP99.50to99.903782
VQSRTrancheSNP99.90to100.00421

Quality Value
Min30.18
Average16380.9816866048
Max1465397.19

Read Depth Value
Min0
Average98.2451749768718
Max4197

Type Total Variants
None0
Likely_benign,_drug_response,_other1
risk_factor17
Benign1387
Benign/Likely_benign109
protective,_risk_factor1
Conflicting_interpretations_of_pathogenicity,_other2
not_provided18
protective2
Likely_pathogenic3
drug_response25
Pathogenic4
Uncertain_significance27
Benign,_association1
Benign,_drug_response1
Benign,_other1
Benign/Likely_benign,Benign/Likely_benign1
Benign,.1
Conflicting_interpretations_of_pathogenicity25
Pathogenic,_protective1
Benign/Likely_benign,_other1
Likely_benign35
Affects2
Benign,Benign10
association4

Chromossome Total Variants
16217
102668
113878
123259
131030
142428
152217
162884
173544
181045
194394
24426
201473
21873
221825
33229
42285
52510
63593
73333
82141
92626
X755
Y61