Mendel,MD | Dashboard

Name: 16hpc01701_s1 genome
Variants: 26836
Novel Variants: 6983 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	26836	508 .	906 0	13239 0/1	1 1	12120 1/1	62 1/2
Total Gene-associated SNVs	26836	508 .	906 0	13239 0/1	1 1	12120 1/1	62 1/2

Type	Total Variants
	18
CODON_CHANGE_PLUS_CODON_DELETION	248
CODON_CHANGE_PLUS_CODON_INSERTION	25
CODON_DELETION	64
CODON_INSERTION	20
FRAME_SHIFT	47
FRAME_SHIFT+SPLICE_SITE_REGION	16
FRAME_SHIFT+STOP_GAINED	2
MOTIF[MA0003.1:Ap2alpha]	1
MOTIF[MA0024.1:E2F1]	1
MOTIF[MA0047.2:FOXA2]	1
MOTIF[MA0058.1:Max]	1
MOTIF[MA0062.1:Gabp]	1
MOTIF[MA0079.2:SP1]	1
MOTIF[MA0095.1:Yy1]	4
MOTIF[MA0138.2:Nrsf]	1
MOTIF[MA0139.1:CTCF]	7
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0162.1:Egr1]	9
NON_SYNONYMOUS_CODING	8498
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	195
PROTEIN_PROTEIN_INTERACTION_LOCUS	7
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	231
SPLICE_SITE_REGION	11
SPLICE_SITE_REGION+CODON_DELETION	4
SPLICE_SITE_REGION+SYNONYMOUS_CODING	131
START_GAINED	38
START_LOST	9
START_LOST+SPLICE_SITE_REGION	1
STOP_GAINED	297
STOP_GAINED+SPLICE_SITE_REGION	6
STOP_LOST	18
STOP_LOST+SPLICE_SITE_REGION	1
SYNONYMOUS_CODING	6517
SYNONYMOUS_STOP	6
None	0

Type	Total Variants
None	0