Name: snps raw
Variants: 287885
Novel Variants: 5017 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 287885 150015 0/1 136980 1/1 890 1/2
Total Gene-associated SNVs 287885 150015 0/1 136980 1/1 890 1/2

Type Total Variants
31
CODON_CHANGE_PLUS_CODON_DELETION125
CODON_CHANGE_PLUS_CODON_INSERTION78
CODON_DELETION52
CODON_INSERTION68
FRAME_SHIFT171
FRAME_SHIFT+SPLICE_SITE_REGION41
FRAME_SHIFT+START_LOST5
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST3
GENE_FUSION1
GENE_FUSION_REVERESE1
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]35
MOTIF[MA0014.1:Pax5]6
MOTIF[MA0016.1:RXRA]5
MOTIF[MA0024.1:E2F1]5
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.2:FOXA2]4
MOTIF[MA0058.1:Max]29
MOTIF[MA0059.1:Cmyc]7
MOTIF[MA0062.1:Gabp]21
MOTIF[MA0062.2:Gabp]36
MOTIF[MA0065.1:PPARG]3
MOTIF[MA0079.1:SP1]16
MOTIF[MA0079.2:SP1]53
MOTIF[MA0080.1:PU1]2
MOTIF[MA0080.2:PU1]3
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]15
MOTIF[MA0095.1:Yy1]16
MOTIF[MA0099.1:Cfos]4
MOTIF[MA0099.2:AP1]3
MOTIF[MA0114.1:HNF4A]16
MOTIF[MA0115.1:RNR1H2]1
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]15
MOTIF[MA0139.1:CTCF]180
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]16
MOTIF[MA0148.1:FOXA1]3
MOTIF[MA0154.1:EBF]5
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]52
NON_SYNONYMOUS_CODING11643
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION239
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS249
SPLICE_SITE_REGION50
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING251
START_GAINED391
START_LOST14
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED85
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST31
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING11960
SYNONYMOUS_STOP8
TRANSCRIPT1
None0

Type Total Variants
1840
MISSENSE11929
NONSENSE86
SILENT12219
None0

Type Total Variants
HIGH610
LOW12888
MODERATE12208
MODIFIER368
None0

Type Total Variants
.287885

Quality Value
Min50.03
Average973.216854718588
Max45358.73

Read Depth Value
Min2
Average47.45650172812061
Max200

Type Total Variants
None0

Chromossome Total Variants
127470
1013647
1116336
1214580
136952
149626
159535
1612063
1714345
185510
1916023
221436
207613
214937
226708
315891
413852
512897
613003
716363
811110
912607
M31
X3558
Y1792