Name: dados_brutos_saude
Variants: 47176
Novel Variants: 46051 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 47176 2475 0|1 26610 0/1 150 1/0 1264 1|1 16677 1/1
Total Gene-associated SNVs 47176 2475 0|1 26610 0/1 150 1/0 1264 1|1 16677 1/1

Type Total Variants
374
CODON_CHANGE_PLUS_CODON_DELETION9
CODON_CHANGE_PLUS_CODON_INSERTION7
CODON_DELETION10
CODON_INSERTION8
FRAME_SHIFT101
FRAME_SHIFT+SPLICE_SITE_REGION6
FRAME_SHIFT+STOP_GAINED1
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]1
MOTIF[MA0047.2:FOXA2]2
MOTIF[MA0058.1:Max]7
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.2:Gabp]6
MOTIF[MA0079.1:SP1]1
MOTIF[MA0079.2:SP1]4
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]4
MOTIF[MA0099.2:AP1]1
MOTIF[MA0114.1:HNF4A]5
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]25
MOTIF[MA0147.1:Cmyc]4
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]3
NON_SYNONYMOUS_CODING948
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION33
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS32
SPLICE_SITE_REGION7
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING15
START_GAINED22
START_LOST1
STOP_GAINED37
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION2
STOP_LOST1
SYNONYMOUS_CODING865
SYNONYMOUS_START1
SYNONYMOUS_STOP2
None0

Type Total Variants
1103
MISSENSE983
NONSENSE39
SILENT434
None0

Type Total Variants
HIGH184
LOW935
MODERATE1016
MODIFIER424
None0

Type Total Variants
ABlow622
DPhigh;ABlow274
DPhigh;FShigh21
DPhigh;FShigh;ABlow16
DPlow224
DPlow;ABlow1
FShigh15
FShigh;ABlow19
PASS45984

Quality Value
Min30.73
Average818.362001441212
Max41872.8

Read Depth Value
Min0
Average44.93486094624385
Max1298

Type Total Variants
None0

Chromossome Total Variants
14704
102000
113091
122478
13803
141512
151586
162026
172596
18766
193675
23245
201177
21640
22999
32547
41887
52211
62443
72318
81634
91844
M79
X915