Mendel,MD | Dashboard

Name: mn1_1_dkdn200006670-1a_hhwwtdsxy_filt_10x
Variants: 105382
Novel Variants: 1030 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	105382	64999 0/1	40070 1/1	313 1/2
Total Gene-associated SNVs	105382	64999 0/1	40070 1/1	313 1/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	76
CODON_CHANGE_PLUS_CODON_INSERTION	49
CODON_DELETION	32
CODON_INSERTION	47
FRAME_SHIFT	121
FRAME_SHIFT+SPLICE_SITE_REGION	35
FRAME_SHIFT+START_LOST	3
FRAME_SHIFT+STOP_GAINED	3
FRAME_SHIFT+STOP_LOST	5
MOTIF_DELETED	1
MOTIF[MA0003.1:Ap2alpha]	9
MOTIF[MA0014.1:Pax5]	1
MOTIF[MA0016.1:RXRA]	2
MOTIF[MA0024.1:E2F1]	3
MOTIF[MA0035.2:Gata1]	1
MOTIF[MA0047.1:FOXA2]	1
MOTIF[MA0058.1:Max]	13
MOTIF[MA0059.1:Cmyc]	3
MOTIF[MA0062.1:Gabp]	3
MOTIF[MA0062.2:Gabp]	16
MOTIF[MA0065.1:PPARG]	1
MOTIF[MA0079.1:SP1]	6
MOTIF[MA0079.2:SP1]	7
MOTIF[MA0080.2:PU1]	2
MOTIF[MA0093.1:USF1]	1
MOTIF[MA0095.1:Yy1]	8
MOTIF[MA0099.1:Cfos]	1
MOTIF[MA0099.2:AP1]	2
MOTIF[MA0114.1:HNF4A]	1
MOTIF[MA0138.2:Nrsf]	2
MOTIF[MA0139.1:CTCF]	69
MOTIF[MA0147.1:Cmyc]	6
MOTIF[MA0154.1:EBF]	2
MOTIF[MA0162.1:Egr1]	9
NON_SYNONYMOUS_CODING	9930
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	217
PROTEIN_PROTEIN_INTERACTION_LOCUS	7
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	227
SPLICE_SITE_REGION	25
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_DELETION	2
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	235
START_GAINED	210
START_LOST	14
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION	1
STOP_GAINED	93
STOP_GAINED+SPLICE_SITE_REGION	1
STOP_LOST	19
STOP_LOST+SPLICE_SITE_REGION	3
SYNONYMOUS_CODING	10736
SYNONYMOUS_STOP	13
None	0

Type	Total Variants
PASS	105382

Type	Total Variants
None	0