Name: 2388
Variants: 369412
Novel Variants: 121963 (Not in latest DbSNP Build)

Type Total Variants
42
CODON_CHANGE_PLUS_CODON_DELETION97
CODON_CHANGE_PLUS_CODON_INSERTION72
CODON_DELETION43
CODON_INSERTION44
FRAME_SHIFT176
FRAME_SHIFT+SPLICE_SITE_REGION38
FRAME_SHIFT+START_LOST6
FRAME_SHIFT+STOP_GAINED4
FRAME_SHIFT+STOP_LOST5
GENE_FUSION_REVERESE2
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]54
MOTIF[MA0005.1:MEF2C]1
MOTIF[MA0014.1:Pax5]16
MOTIF[MA0016.1:RXRA]3
MOTIF[MA0024.1:E2F1]17
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]3
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0047.2:FOXA2]7
MOTIF[MA0058.1:Max]31
MOTIF[MA0059.1:Cmyc]13
MOTIF[MA0062.1:Gabp]19
MOTIF[MA0062.2:Gabp]53
MOTIF[MA0065.1:PPARG]5
MOTIF[MA0065.2:PPARG]3
MOTIF[MA0074.1:RXRA]2
MOTIF[MA0079.1:SP1]19
MOTIF[MA0079.2:SP1]58
MOTIF[MA0080.1:PU1]7
MOTIF[MA0080.2:PU1]9
MOTIF[MA0083.1:Srf]6
MOTIF[MA0093.1:USF1]18
MOTIF[MA0095.1:Yy1]21
MOTIF[MA0099.1:Cfos]8
MOTIF[MA0099.2:AP1]14
MOTIF[MA0105.1:NFKB]1
MOTIF[MA0114.1:HNF4A]23
MOTIF[MA0115.1:RNR1H2]3
MOTIF[MA0138.1:Nrsf]6
MOTIF[MA0138.2:Nrsf]21
MOTIF[MA0139.1:CTCF]269
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]24
MOTIF[MA0148.1:FOXA1]2
MOTIF[MA0154.1:EBF]7
MOTIF[MA0159.1:RXR]4
MOTIF[MA0162.1:Egr1]106
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING10865
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION267
NON_SYNONYMOUS_START1
PROTEIN_PROTEIN_INTERACTION_LOCUS7
PROTEIN_STRUCTURAL_INTERACTION_LOCUS265
RARE_AMINO_ACID1
SPLICE_SITE_REGION96
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING226
START_GAINED528
START_LOST15
STOP_GAINED207
STOP_GAINED+SPLICE_SITE_REGION14
STOP_LOST25
STOP_LOST+SPLICE_SITE_REGION1
SYNONYMOUS_CODING10987
SYNONYMOUS_STOP8
TRANSCRIPT4
None0

Type Total Variants
2294
MISSENSE11174
NONSENSE221
SILENT11221
None0

Type Total Variants
HIGH766
LOW12191
MODERATE11390
MODIFIER563
None0

Type Total Variants
DRAGENIndelHardQUAL3091
DRAGENIndelHardQUAL;LowDepth3461
DRAGENIndelHardQUAL;LowDepth;PloidyConflict4
DRAGENSnpHardQUAL55032
DRAGENSnpHardQUAL;LowDepth85214
DRAGENSnpHardQUAL;LowDepth;PloidyConflict74
DRAGENSnpHardQUAL;PloidyConflict25
LowDepth69841
LowDepth;PloidyConflict51
PASS152532
PloidyConflict87

Quality Value
Min0.0
Average24.6172009571831
Max831.41

Read Depth Value
Min1
Average5.311670979827402
Max416

Type Total Variants
None0

Chromossome Total Variants
134105
1017529
1119290
1217742
1310356
1411422
1512734
1613819
1715832
188686
1915030
227797
209217
215914
227881
321244
419294
518665
620771
719392
816367
915569
M42
X10473
Y241