Mendel,MD | Dashboard

Name: epf23-lugp final
Variants: 79231
Novel Variants: 2326 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	79231	7065 0\|1	44367 0/1	2218 1\|1	24631 1/1	86 1\|2	864 1/2
Total Gene-associated SNVs	79231	7065 0\|1	44367 0/1	2218 1\|1	24631 1/1	86 1\|2	864 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	170
CODON_CHANGE_PLUS_CODON_INSERTION	112
CODON_DELETION	63
CODON_INSERTION	81
FRAME_SHIFT	322
FRAME_SHIFT+SPLICE_SITE_REGION	41
FRAME_SHIFT+START_LOST	6
FRAME_SHIFT+STOP_GAINED	5
FRAME_SHIFT+STOP_LOST	3
GENE_FUSION	1
GENE_FUSION_REVERESE	1
MOTIF_DELETED	3
MOTIF[MA0003.1:Ap2alpha]	10
MOTIF[MA0014.1:Pax5]	1
MOTIF[MA0016.1:RXRA]	1
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0047.1:FOXA2]	1
MOTIF[MA0058.1:Max]	7
MOTIF[MA0059.1:Cmyc]	1
MOTIF[MA0062.1:Gabp]	1
MOTIF[MA0062.2:Gabp]	12
MOTIF[MA0065.2:PPARG]	1
MOTIF[MA0079.1:SP1]	1
MOTIF[MA0079.2:SP1]	16
MOTIF[MA0080.1:PU1]	2
MOTIF[MA0080.2:PU1]	1
MOTIF[MA0093.1:USF1]	1
MOTIF[MA0095.1:Yy1]	4
MOTIF[MA0099.1:Cfos]	1
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	1
MOTIF[MA0138.2:Nrsf]	2
MOTIF[MA0139.1:CTCF]	37
MOTIF[MA0147.1:Cmyc]	3
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0162.1:Egr1]	42
NON_SYNONYMOUS_CODING	11402
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	245
PROTEIN_PROTEIN_INTERACTION_LOCUS	3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	230
SPLICE_SITE_REGION	22
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	254
SPLICE_SITE_REGION+SYNONYMOUS_STOP	1
START_GAINED	177
START_LOST	9
STOP_GAINED	109
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED+CODON_INSERTION	2
STOP_LOST	25
STOP_LOST+SPLICE_SITE_REGION	3
SYNONYMOUS_CODING	11735
SYNONYMOUS_STOP	12
TRANSCRIPT	3
None	0

Type	Total Variants
None	0