Name: dados_brutos_saude
Variants: 50855
Novel Variants: 49593 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 50855 2505 0|1 30031 0/1 284 1/0 1271 1|1 16764 1/1
Total Gene-associated SNVs 50855 2505 0|1 30031 0/1 284 1/0 1271 1|1 16764 1/1

Type Total Variants
377
CODON_CHANGE_PLUS_CODON_DELETION6
CODON_CHANGE_PLUS_CODON_INSERTION8
CODON_DELETION8
CODON_INSERTION17
FRAME_SHIFT115
FRAME_SHIFT+SPLICE_SITE_REGION7
FRAME_SHIFT+STOP_GAINED6
FRAME_SHIFT+STOP_LOST1
MOTIF_DELETED1
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]10
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.2:Gabp]9
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]5
MOTIF[MA0095.1:Yy1]1
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.2:Nrsf]3
MOTIF[MA0139.1:CTCF]27
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0148.1:FOXA1]4
MOTIF[MA0154.1:EBF]3
MOTIF[MA0162.1:Egr1]4
NON_SYNONYMOUS_CODING976
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION33
PROTEIN_STRUCTURAL_INTERACTION_LOCUS24
SPLICE_SITE_REGION5
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING17
START_GAINED27
START_LOST2
STOP_GAINED43
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST4
SYNONYMOUS_CODING882
SYNONYMOUS_START1
None0

Type Total Variants
1126
MISSENSE1015
NONSENSE44
SILENT467
None0

Type Total Variants
HIGH205
LOW964
MODERATE1051
MODIFIER432
None0

Type Total Variants
ABlow840
DPhigh;ABlow313
DPhigh;FShigh29
DPhigh;FShigh;ABlow18
DPlow51
DPlow;ABlow3
FShigh16
FShigh;ABlow15
PASS49570

Quality Value
Min30.73
Average1525.20714089114
Max67393.8

Read Depth Value
Min0
Average83.76515583521778
Max2057

Type Total Variants
None0

Chromossome Total Variants
15116
102197
113255
122695
13945
141809
151664
161893
172876
18852
193657
23611
201148
21653
221043
32859
42312
52212
62857
72481
81917
92022
M35
X742
Y4