Mendel,MD | Dashboard

Name: mm200520lff
Variants: 140761
Novel Variants: 2427 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	140761	10423 0\|1	72577 0/1	5472 1\|1	51139 1/1	1150 1/2
Total Gene-associated SNVs	140761	10423 0\|1	72577 0/1	5472 1\|1	51139 1/1	1150 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	135
CODON_CHANGE_PLUS_CODON_INSERTION	84
CODON_DELETION	49
CODON_INSERTION	75
FRAME_SHIFT	224
FRAME_SHIFT+SPLICE_SITE_REGION	41
FRAME_SHIFT+START_LOST	4
FRAME_SHIFT+STOP_GAINED	5
FRAME_SHIFT+STOP_LOST	4
GENE_FUSION	1
GENE_FUSION_REVERESE	1
MOTIF_DELETED	14
MOTIF[MA0003.1:Ap2alpha]	28
MOTIF[MA0014.1:Pax5]	6
MOTIF[MA0016.1:RXRA]	5
MOTIF[MA0024.1:E2F1]	9
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0036.1:Gata2]	1
MOTIF[MA0058.1:Max]	18
MOTIF[MA0059.1:Cmyc]	4
MOTIF[MA0062.1:Gabp]	6
MOTIF[MA0062.2:Gabp]	28
MOTIF[MA0079.1:SP1]	9
MOTIF[MA0079.2:SP1]	17
MOTIF[MA0080.2:PU1]	4
MOTIF[MA0083.1:Srf]	1
MOTIF[MA0093.1:USF1]	5
MOTIF[MA0095.1:Yy1]	8
MOTIF[MA0099.1:Cfos]	1
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	11
MOTIF[MA0138.1:Nrsf]	1
MOTIF[MA0138.2:Nrsf]	6
MOTIF[MA0139.1:CTCF]	97
MOTIF[MA0140.1:Tal1]	1
MOTIF[MA0147.1:Cmyc]	17
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	4
MOTIF[MA0162.1:Egr1]	42
NON_SYNONYMOUS_CODING	11097
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	239
PROTEIN_PROTEIN_INTERACTION_LOCUS	5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	260
SPLICE_SITE_REGION	41
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_DELETION	1
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	235
START_GAINED	335
START_LOST	15
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	109
STOP_GAINED+SPLICE_SITE_REGION	2
STOP_LOST	25
STOP_LOST+SPLICE_SITE_REGION	4
SYNONYMOUS_CODING	11574
SYNONYMOUS_STOP	12
TRANSCRIPT	4
None	0

Type	Total Variants
PASS	140761

Type	Total Variants
None	0