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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ACAN, ADAM23, ALMS1, ANKRD11, ARHGAP6, ASPN, ATN1, ATXN3, B3GNT6, BCKDHA, BHLHE41, CBS, CCDC40, CCR5, CD207, CES1, CGB, CLTCL1, CNTNAP4, CPS1, CSMD3, CTSA, CYP2F1, DEFB126, DOCK8, DRD4, DSPP, EMG1, EPHB6, FAM20C, FAM58A, FMN2, FOXG1, GRIA3, HDGFRP2, HTT, ILK, KCNN3, KIF17, KLK1, KRT1, LEMD3, LPIN1, LRP5, LRP8, LTBP4, MED12, MESP2, MFF, MPO, MPV17, MROH8, NEB, NEFH, NOTCH2, OPLAH, OR1B1, OVCH2, P2RX5, PCLO, PDGFRB, PEX5, PRB3, PRB4, PRDM9, PRG4, PRKAR1A, PRKCSH, PRKDC, PTCHD3, RAI1, RECQL4, RYK, RYR1, SCARF2, SCNN1B, SCUBE2, SELPLG, SHANK3, SIGLEC12, SLC37A4, SLC46A1, SPATA7, SPRY4, STRC, TAF2, TAL1, TGM6, TNXB, TRIOBP, TSEN54, UNC93B1, VCX3A, WNK1, ZAN,

+ Genes associated with diseases 67

Genes at Omim

ACAN, ALMS1, ANKRD11, ASPN, ATN1, ATXN3, BCKDHA, BHLHE41, CBS, CCDC40, CCR5, CD207, CES1, CPS1, CTSA, DOCK8, DRD4, DSPP, EMG1, FAM20C, FAM58A, FMN2, FOXG1, GRIA3, HTT, KLK1, KRT1, LEMD3, LPIN1, LRP5, LRP8, LTBP4, MED12, MESP2, MFF, MPO, MPV17, NEB, NEFH, NOTCH2, OPLAH, PCLO, PDGFRB, PEX5, PRG4, PRKAR1A, PRKCSH, PRKDC, RAI1, RECQL4, RYR1, SCARF2, SCNN1B, SHANK3, SLC37A4, SLC46A1, SPATA7, SPRY4, STRC, TAF2, TAL1, TGM6, TNXB, TRIOBP, TSEN54, UNC93B1, WNK1,

ACAN	?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ALMS1	Alstrom syndrome, 203800 (3)
ANKRD11	KBG syndrome, 148050 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
BCKDHA	Maple syrup urine disease, type Ia, 248600 (3)
BHLHE41	[Short sleeper], 612975 (3)
CBS	Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) Thrombosis, hyperhomocysteinemic, 236200 (3)
CCDC40	Ciliary dyskinesia, primary, 15, 613808 (3)
CCR5	{HIV infection, susceptibility/resistance to} (3) {Hepatitis C virus, resistance to}, 609532 (3) {West nile virus, susceptibility to}, 610379 (3) {Diabetes mellitus, insulin-dependent, 22}, 612522 (3)
CD207	[?Birbeck granule deficiency], 613393 (3)
CES1	Drug metabolism, altered, CES1-related, 618057 (3)
CPS1	Carbamoylphosphate synthetase I deficiency, 237300 (3) {Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3) {Venoocclusive disease after bone marrow transplantation} (3)
CTSA	Galactosialidosis, 256540 (3)
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DRD4	Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3)
DSPP	Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) Dentin dysplasia, type II, 125420 (3) Dentinogenesis imperfecta, Shields type II, 125490 (3) Dentinogenesis imperfecta, Shields type III, 125500 (3)
EMG1	Bowen-Conradi syndrome, 211180 (3)
FAM20C	Raine syndrome, 259775 (3)
FAM58A	STAR syndrome, 300707 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
FOXG1	Rett syndrome, congenital variant, 613454 (3)
GRIA3	Mental retardation, X-linked 94, 300699 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
KLK1	[Kallikrein, decreased urinary activity of], 615953 (3)
KRT1	Ichthyosis histrix, Curth-Macklin type, 146590 (3) Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3) Epidermolytic hyperkeratosis, 113800 (3) Keratosis palmoplantaris striata III, 607654 (3) Palmoplantar keratoderma, epidermolytic, 144200 (3) Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
LEMD3	Buschke-Ollendorff syndrome, 166700 (3) Osteopoikilosis with or without melorheostosis, 166700 (3)
LPIN1	Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
LRP5	Hyperostosis, endosteal, 144750 (3) {Osteoporosis}, 166710 (3) Exudative vitreoretinopathy 4, 601813 (3) Osteopetrosis, autosomal dominant 1, 607634 (3) Osteoporosis-pseudoglioma syndrome, 259770 (3) Osteosclerosis, 144750 (3) Polycystic liver disease 4 with or without kidney cysts, 617875 (3) [Bone mineral density variability 1], 601884 (3) van Buchem disease, type 2, 607636 (3)
LRP8	{Myocardial infarction, susceptibility to}, 608446 (3)
LTBP4	Cutis laxa, autosomal recessive, type IC, 613177 (3)
MED12	Lujan-Fryns syndrome, 309520 (3) Ohdo syndrome, X-linked, 300895 (3) Opitz-Kaveggia syndrome, 305450 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MFF	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
MPO	{Lung cancer, protection against, in smokers} (3) Myeloperoxidase deficiency, 254600 (3) {Alzheimer disease, susceptibility to}, 104300 (3)
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
NEB	Nemaline myopathy 2, autosomal recessive, 256030 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NOTCH2	Alagille syndrome 2, 610205 (3) Hajdu-Cheney syndrome, 102500 (3)
OPLAH	5-oxoprolinase deficiency, 260005 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDGFRB	Basal ganglia calcification, idiopathic, 4, 615007 (3) Kosaki overgrowth syndrome, 616592 (3) Myeloproliferative disorder with eosinophilia, 131440 (4) Myofibromatosis, infantile, 1, 228550 (3) Premature aging syndrome, Penttinen type, 601812 (3)
PEX5	Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3) Peroxisome biogenesis disorder 2B, 202370 (3) Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PRKAR1A	Adrenocortical tumor, somatic, (3) Carney complex, type 1, 160980 (3) Acrodysostosis 1, with or without hormone resistance, 101800 (3) Myxoma, intracardiac, 255960 (3) Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
PRKDC	Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RECQL4	Baller-Gerold syndrome, 218600 (3) RAPADILINO syndrome, 266280 (3) Rothmund-Thomson syndrome, 268400 (3)
RYR1	Central core disease, 117000 (3) {Malignant hyperthermia susceptibility 1}, 145600 (3) King-Denborough syndrome, 145600 (3) Minicore myopathy with external ophthalmoplegia, 255320 (3) Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCNN1B	Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) Liddle syndrome 1, 177200 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SHANK3	{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3)
SLC37A4	Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3)
SLC46A1	Folate malabsorption, hereditary, 229050 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPRY4	Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)
STRC	Deafness, autosomal recessive 16, 603720 (3)
TAF2	Mental retardation, autosomal recessive 40, 615599 (3)
TAL1	Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
TGM6	Spinocerebellar ataxia 35, 613908 (3)
TNXB	Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TSEN54	Pontocerebellar hypoplasia type 2A, 277470 (3) Pontocerebellar hypoplasia type 4, 225753 (3) ?Pontocerebellar hypoplasia type 5, 610204 (3)
UNC93B1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
WNK1	Neuropathy, hereditary sensory and autonomic, type II, 201300 (3) Pseudohypoaldosteronism, type IIC, 614492 (3)

Genes at Clinical Genomics Database

ACAN, ALMS1, ANKRD11, ATN1, ATXN3, BCKDHA, BHLHE41, CBS, CCDC40, CD207, CES1, CPS1, CTSA, DOCK8, DSPP, EMG1, FAM20C, FAM58A, FMN2, FOXG1, GRIA3, HTT, KRT1, LEMD3, LPIN1, LRP5, LTBP4, MED12, MESP2, MPO, MPV17, NEB, NEFH, NOTCH2, OPLAH, PDGFRB, PEX5, PRG4, PRKAR1A, PRKCSH, PRKDC, RAI1, RECQL4, RYR1, SCARF2, SCNN1B, SHANK3, SLC37A4, SLC46A1, SPATA7, SPRY4, STRC, TAF2, TGM6, TNXB, TRIOBP, TSEN54, UNC93B1, WNK1,

ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ALMS1	Alstrom syndrome
ANKRD11	KBG syndrome
ATN1	Dentatorubro-pallidoluysian atrophy
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
BCKDHA	Maple syrup urine disease, type Ia
BHLHE41	Short sleeper
CBS	Homocystinuria due to cystathionine beta-synthase deficiency
CCDC40	Ciliary dyskinesia, primary, 15
CD207	Birbeck granule deficiency
CES1	Carboxylesterase 1 deficiency
CPS1	Carbamoylphosphate synthetase I deficiency
CTSA	Galactosialidosis
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
DSPP	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
EMG1	Bowen-Conradi syndrome
FAM20C	Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FAM58A	STAR syndrome Toe syndactyly, telecanthus, and anogenital and renal malformations
FMN2	Mental retardation, autosomal recessive, 47
FOXG1	Rett syndrome, congenital variant
GRIA3	Mental retardation, X-linked 94
HTT	Huntington disease
KRT1	Keratosis palmoplantaris striata III Ichthyosis, cyclic, with epidermolytic hyperkeratosis Ichthyosis histrix, Curth-Macklin type Palmoplantar keratoderma, epidermolytic Palmoplantar keratoderma, nonepidermolytic Epidermolytic hyperkeratosis
LEMD3	Buschke-Ollendorff syndrome Osteopoikilosis
LPIN1	Myoglobinuria, acute, recurrent, autosomal recessive
LRP5	van Buchem disease, type 2 Osteopetrosis, autosomal dominant 1 Osteosclerosis Hyperostosis, endosteal Exudative vitreoretinopathy 4 Osteoporosis-pseudoglioma syndrome
LTBP4	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MED12	Lujan-Fryns syndrome Opitz-Kaveggia syndrome Mental retardation, X-linked, with Marfanoid habitus FG syndrome Ohdo syndrome
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MPO	Myeloperoxidase deficiency
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
NEB	Nemaline myopathy 2
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
NOTCH2	Alagille syndrome 2
OPLAH	5-oxoprolinase deficiency
PDGFRB	Basal ganglia calcification, idiopathic, 4 Kosaki overgrowth syndrome Myofibromatosis, infantile 1 Premature aging syndrome, Penttinen type
PEX5	Peroxisome biogenesis disorder, 5 Zellweger syndrome Adrenoleukodystrophy, neonatal Rhizomelic chondrodysplasia punctata, type 5
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PRKAR1A	Pigmented nodular adrenocortical disease, primary, 1 Carney complex, type 1 Myxoma, intracardiac Acrodysostosis 1, with or without hormone resistance
PRKCSH	Polycystic liver disease
PRKDC	Immunodeficiency 26 with or without neurologic abnormalities
RAI1	Smith-Magenis syndrome
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome
RYR1	Malignant hyperthermia, susceptibility 1 Central core disease Minicore myopathy Multicore myopathy Minicore myopathy with external ophthalmoplegia Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
SCARF2	Van den Ende-Gupta syndrome
SCNN1B	Pseudohypoaldosteronism, type I Liddle syndrome Bronchiectasis with or without elevated sweat chloride 3
SHANK3	Phelan-McDermid syndrome Schizophrenia
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id
SLC46A1	Folate malabsorption, hereditary
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
SPRY4	Hypogonadotropic hypogonadism 17, with or without anosmia
STRC	Deafness, autosomal recessive 16
TAF2	Mental retardation, autosomal recessive 40
TGM6	Spinocerebellar ataxia 35
TNXB	Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TRIOBP	Deafness, autosomal recessive 28
TSEN54	Pontocerebellar hypoplasia, type 2A Pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 5
UNC93B1	Herpes simplex encephalitis, susceptibility to, 1
WNK1	Pseudohypoaldosteronism, type IIC Neuropathy, hereditary sensory and autonomic, type IIA

Genes at HGMD

Summary

Number of Variants: 1427
Number of Genes: 95

Export to: CSV

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ACAN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	15	.	89399758	118.0	C	G	low_variant_fraction	0/1	1389	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.66	0.00		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	il-full_variant_table	15	.	89399395	323.0	C	T	low_coverage	0/1	19	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ACAN\|0.017538305\|75.58%
	View	il-full_variant_table	15	.	89399396	374.0	G	A	PASS	0/1	24	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.37	0.00		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	il-full_variant_table	15	.	89399644	106.0	C	G	low_variant_fraction	0/1	1130	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.54	0.00		None None	None None None None	ACAN\|0.017538305\|75.58%
ADAM23
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	2	.	207308699	1788.0	G	A	PASS	0/1	176	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.18	0.00		None None	None None None None	ADAM23\|0.480551722\|16.74%
ALMS1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	2	.	73613031	828.0	TG...	T	PASS	0/1	86	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE		0.76597						None None	None None None None	ALMS1\|0.012791041\|78.65%
ANKRD11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	16	.	89345844	323.0	G	A	low_variant_fraction	0/1	184	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.02	0.12		None None	None None None None	ANKRD11\|0.017604248\|75.55%
ARHGAP6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	X	.	11682842	2482.0	C	T	PASS	0/1	233	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	0.02		None None	None None None None	ARHGAP6\|0.321783914\|26.02%
ASPN
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	9	.	95237024	1603.0	C	CT...	PASS	0/1	208	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	CENPP\|0.015429847\|76.86%,ASPN\|0.415784887\|19.83%
ATN1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	12	.	7045891	1644.0	AC...	A	PASS	0/1	254	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	ATN1\|0.702926343\|8.41%
ATXN3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	14	.	92537356	255.0	T	TG...	low_variant_fraction	0/1	387	CODON_INSERTION	MODERATE								None None	None None None None	ATXN3\|0.681306976\|9.03%
	View	il-full_variant_table	14	.	92537353	3195.0	C	CG...	PASS	0/1	408	CODON_INSERTION	MODERATE								None None	None None None None	ATXN3\|0.681306976\|9.03%
B3GNT6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	il-full_variant_table	11	.	76751603	10000.0	CTT	CT	PASS	1/1	336	FRAME_SHIFT	HIGH								None None	None None None None	B3GNT6\|0.006722766\|83.81%