Name: schinzel_giedion
Variants: 4141
Novel Variants: 30 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 4141 3859 0/1 282 1/1
Total Gene-associated SNVs 4141 3859 0/1 282 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION6
CODON_CHANGE_PLUS_CODON_INSERTION4
CODON_DELETION1
CODON_INSERTION7
FRAME_SHIFT10
FRAME_SHIFT+SPLICE_SITE_REGION4
FRAME_SHIFT+START_LOST1
MOTIF[MA0058.1:Max]1
MOTIF[MA0095.1:Yy1]1
MOTIF[MA0139.1:CTCF]1
MOTIF[MA0162.1:Egr1]3
NON_SYNONYMOUS_CODING533
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION15
PROTEIN_STRUCTURAL_INTERACTION_LOCUS21
SPLICE_SITE_REGION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING12
START_GAINED3
STOP_GAINED7
STOP_LOST1
SYNONYMOUS_CODING626
None0

Type Total Variants
65
MISSENSE549
NONSENSE7
SILENT638
None0

Type Total Variants
HIGH44
LOW646
MODERATE567
MODIFIER2
None0

Type Total Variants
PASS4141

Quality Value
Min50.01
Average434.375329630523
Max5496.55

Read Depth Value
Min4
Average31.54745230620623
Max250

Type Total Variants
None0

Chromossome Total Variants
161447
172063
18631