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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AAR2, ABHD12, ACSS1, ACSS2, ACTR5, ADA, ADAM33, ADRA1D, ADRM1, ANGPT4, ANKEF1, ANKRD60, APCDD1L, ARFGEF2, ARFRP1, ARHGAP40, ASXL1, ATP9A, ATRN, AURKA, B4GALT5, BANF2, BCAS1, BFSP1, BIRC7, BMP2, BMP7, BPI, BPIFA2, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, C20orf166, C20orf173, C20orf194, C20orf195, C20orf196, C20orf26, C20orf85, CABLES2, CASS4, CD93, CDC25B, CDH4, CDK5RAP1, CEBPB, CEP250, CHD6, CHGB, CHRNA4, COL20A1, COL9A3, CRNKL1, CSE1L, CSRP2BP, CST1, CST3, CST5, CST7, CST8, CST9L, CSTL1, CTCFL, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DNMT3B, DNTTIP1, DUSP15, DYNLRB1, DZANK1, EBF4, ELMO2, EMILIN3, ENTPD6, EPPIN, ERGIC3, ESF1, EYA2, FAM110A, FAM182B, FAM209B, FAM65C, FAM83D, FASTKD5, FERMT1, FITM2, FLRT3, FOXA2, FOXS1, FRG1B, GCNT7, GFRA4, GINS1, GMEB2, GNAS, GSS, GTSF1L, GZF1, HELZ2, HRH3, HSPA12B, IFT52, ITPA, JAG1, JPH2, KCNG1, KCNK15, KCNS1, KIAA1755, KIF16B, LAMA5, LBP, LPIN3, LRRN4, LZTS3, MATN4, MAVS, MCM8, MGME1, MMP24, MMP9, MROH8, MYBL2, MYH7B, NAA20, NCOA3, NCOA5, NCOA6, NFATC2, NINL, NKAIN4, NOP56, NPEPL1, NSFL1C, OGFR, PABPC1L, PANK2, PCK1, PIGT, PIGU, PLCB1, PLCB4, PLCG1, PMEPA1, POFUT1, POLR3F, PPP1R16B, PPP4R1L, PREX1, PRNP, PROKR2, PSMA7, PSMF1, PTPN1, PTPRA, PTPRT, PYGB, R3HDML, RAD21L1, RALGAPA2, RALY, RBBP8NL, RBCK1, RBM12, REM1, RIN2, RP11-352D3.2, RP11-410N8.4, RP11-429E11.3, RPN2, RRBP1, RTEL1, RTFDC1, SALL4, SCP2D1, SDCBP2, SEL1L2, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A10, SLC2A4RG, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SMOX, SNAI1, SNPH, SNX21, SNX5, SOGA1, SPINT4, SPTLC3, SRC, SRMS, SRSF6, SSTR4, STK35, STK4, STX16, SULF2, SUN5, TAF4, TCF15, TGM3, TGM6, TLDC2, TMC2, TMEM189-UBE2V1, TMEM239, TMEM74B, TNFRSF6B, TNNC2, TP53RK, TP53TG5, TRMT6, TRPC4AP, TSHZ2, TTLL9, TUBB1, UBE2V1, UQCC1, VSX1, WFDC10A, WFDC10B, WFDC3, WFDC9, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZMYND8, ZNF133, ZNF217, ZNF335, ZNF337, ZNF341, ZNF343, ZNF512B, ZNF831, ZNFX1, ZSWIM3,

+ Genes associated with diseases 59

Genes at Omim

ABHD12, ADA, ARFGEF2, ASXL1, AURKA, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DDRGK1, DNMT3B, ELMO2, FERMT1, FLRT3, GINS1, GNAS, GSS, GZF1, IFT52, ITPA, JAG1, JPH2, MCM8, MGME1, MMP9, NOP56, PANK2, PCK1, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, PTPN1, RBCK1, RBM12, RIN2, RTEL1, SALL4, SLC12A5, SLC17A9, SLC2A10, SLC4A11, SLC52A3, SRC, STK4, STX16, SUN5, TGM3, TGM6, TP53RK, TUBB1, VSX1, ZNF335, ZNF341,

ABHD12	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)
ADA	Adenosine deaminase deficiency, partial, 102700 (3) Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ARFGEF2	Periventricular heterotopia with microcephaly, 608097 (3)
ASXL1	Bohring-Opitz syndrome, 605039 (3) Myelodysplastic syndrome, somatic, 614286 (3)
AURKA	{Colon cancer, susceptibility to}, 114500 (3)
BFSP1	Cataract 33, multiple types, 611391 (3)
BMP2	{HFE hemochromatosis, modifier of}, 235200 (3) Brachydactyly, type A2, 112600 (3) Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3)
CHRNA4	{Nicotine addiction, susceptibility to}, 188890 (3) Epilepsy, nocturnal frontal lobe, 1, 600513 (3)
COL9A3	{Intervertebral disc disease, susceptibility to}, 603932 (3) Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)
CST3	Cerebral amyloid angiopathy, 105150 (3) {Macular degeneration, age-related, 11}, 611953 (3)
CTSA	Galactosialidosis, 256540 (3)
CYP24A1	Hypercalcemia, infantile, 1, 143880 (3)
DDRGK1	Spondyloepimetaphyseal dysplasia, Shohat type, 602557 (3)
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
ELMO2	Vascular malformation, primary intraosseous, 606893 (3)
FERMT1	Kindler syndrome, 173650 (3)
FLRT3	Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)
GINS1	Immunodeficiency 55, 617827 (3)
GNAS	ACTH-independent macronodular adrenal hyperplasia, 219080 (3) McCune-Albright syndrome, somatic, mosaic 174800 (3) Osseous heteroplasia, progressive, 166350 (3) Pituitary adenoma 3, multiple types, somatic, 617686 (3) Pseudohypoparathyroidism Ia, 103580 (3) Pseudohypoparathyroidism Ib, 603233 (3) Pseudohypoparathyroidism Ic, 612462 (3) Pseudopseudohypoparathyroidism, 612463 (3)
GSS	Glutathione synthetase deficiency, 266130 (3) Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)
GZF1	Joint laxity, short stature, and myopia, 617662 (3)
IFT52	Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)
ITPA	Epileptic encephalopathy, early infantile, 35, 616647 (3) [Inosine triphosphatase deficiency], 613850 (3)
JAG1	Alagille syndrome 1, 118450 (3) ?Deafness, congenital heart defects, and posterior embryotoxon, 617992 (3) Tetralogy of Fallot, 187500 (3)
JPH2	Cardiomyopathy, hypertrophic, 17, 613873 (3)
MCM8	?Premature ovarian failure 10, 612885 (3)
MGME1	Mitochondrial DNA depletion syndrome 11, 615084 (3)
MMP9	Metaphyseal anadysplasia 2, 613073 (3)
NOP56	Spinocerebellar ataxia 36, 614153 (3)
PANK2	HARP syndrome, 607236 (3) Neurodegeneration with brain iron accumulation 1, 234200 (3)
PCK1	?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3) ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PLCB1	Epileptic encephalopathy, early infantile, 12, 613722 (3)
PLCB4	Auriculocondylar syndrome 2, 614669 (3)
POFUT1	Dowling-Degos disease 2, 615327 (3)
PRNP	Gerstmann-Straussler disease, 137440 (3) {Kuru, susceptibility to}, 245300 (3) Cerebral amyloid angiopathy, PRNP-related, 137440 (3) Huntington disease-like 1, 603218 (3) Creutzfeldt-Jakob disease, 123400 (3) Insomnia, fatal familial, 600072 (3) Prion disease with protracted course, 606688 (3)
PROKR2	Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PTPN1	{Insulin resistance, susceptibility to}, 125853 (3)
RBCK1	Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
RBM12	{Schizophrenia 19, susceptibility to}, 617629 (3)
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RTEL1	Dyskeratosis congenita, autosomal dominant 4, 615190 (3) Dyskeratosis congenita, autosomal recessive 5, 615190 (3) Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)
SALL4	IVIC syndrome, 147750 (3) Duane-radial ray syndrome, 607323 (3)
SLC12A5	Epileptic encephalopathy, early infantile, 34, 616645 (3) {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3)
SLC17A9	Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC2A10	Arterial tortuosity syndrome, 208050 (3)
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) Corneal endothelial dystrophy and perceptive deafness, 217400 (3) Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
SLC52A3	Brown-Vialetto-Van Laere syndrome 1, 211530 (3) ?Fazio-Londe disease, 211500 (3)
SRC	Colon cancer, advanced, somatic, 114500 (3) ?Thrombocytopenia 6, 616937 (3)
STK4	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)
STX16	Pseudohypoparathyroidism, type IB, 603233 (3)
SUN5	Spermatogenic failure 16, 617187 (3)
TGM3	?Uncombable hair syndrome 2, 617251 (3)
TGM6	Spinocerebellar ataxia 35, 613908 (3)
TP53RK	Galloway-Mowat syndrome 4, 617730 (3)
TUBB1	Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)
VSX1	Keratoconus 1, 148300 (3) ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF335	Microcephaly 10, primary, autosomal recessive, 615095 (3)
ZNF341	Hyper-IgE recurrent infection syndrome 3, autosomal recessive, 618282 (3)

Genes at Clinical Genomics Database

ABHD12, ADA, ARFGEF2, ASXL1, BFSP1, BMP2, CHRNA4, COL9A3, CST3, CTSA, CYP24A1, DNMT3B, FERMT1, FLRT3, GNAS, GSS, ITPA, JAG1, JPH2, MCM8, MGME1, MMP9, NOP56, PANK2, PIGT, PLCB1, PLCB4, POFUT1, PRNP, PROKR2, RBCK1, RIN2, RTEL1, SALL4, SLC12A5, SLC17A9, SLC2A10, SLC4A11, SLC52A3, SRC, STK4, STX16, TGM6, TUBB1, VSX1, ZNF335,

ABHD12	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ADA	Severe combined immunodeficiency due to adenosine deaminase deficiency
ARFGEF2	Heterotopia, periventricular, autosomal recessive
ASXL1	Bohring-Opitz syndrome
BFSP1	Cataract, cortical, juvenile-onset
BMP2	Brachydactyly, type A2
CHRNA4	Epilepsy, nocturnal frontal lobe, type 1
COL9A3	Epiphyseal dysplasia, multiple, 3
CST3	Cerebral amyloid angiopathy
CTSA	Galactosialidosis
CYP24A1	1,25(OH)(2)D-24-hydroxylase deficiency
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
FERMT1	Kindler syndrome
FLRT3	Hypogonadotropic hypogonadism 21, with or without anosmia
GNAS	Pseudohypoparathyroidism, type IA Pseudohypoparathyroidism, type IB Pseudohypoparathyroidism, type IC Progressive osseous heteroplasia McCune-Albright syndrome
GSS	Glutathione synthetase deficiency
ITPA	Inosine triphosphatase deficiency
JAG1	Alagille syndrome
JPH2	Cardiomyopathy, familial hypertrophic 17
MCM8	Premature ovarian failure 10
MGME1	Mitochondrial DNA depletion syndrome 11
MMP9	Metaphyseal anadysplasia 2
NOP56	Spinocerebellar ataxia 36
PANK2	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Neurodegeneration with brain iron accumulation 1
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1	Epileptic encephalopathy, early infantile, 12
PLCB4	Auriculocondylar syndrome 2
POFUT1	Dowling-Degos disease 2
PRNP	Spongiform encephalopathy with neuropsychiatric features Huntington disease-like 1 Gerstmann-Straussler disease Creutzfeldt-Jakob disease Insomnia, fatal familial Dementia, Lewy body
PROKR2	Hypogonadotropic hypogonadism 3 with or without anosmia
RBCK1	Polyglucosan body myopathy 1
RIN2	Macrocephaly, alopecia, cutis laxa, and scoliosis
RTEL1	Pulmonary fibrosis and/or bone marrow failure, telomere-related 3 Dyskeratosis congenita, autosomal dominant 4 Dyskeratosis congenita, autosomal recessive 5
SALL4	Duane-radial ray/Okohiro syndrome Acro-Renal-Ocular syndrome
SLC12A5	Epileptic encephalopathy, early infantile, 34
SLC17A9	Porokeratosis, disseminated superficial actinic, 8
SLC2A10	Arterial tortuosity syndrome
SLC4A11	Cryohydrocytosis
SLC52A3	Brown-Vialetto-Van Laere syndrome 1 Fazio-Londe disease
SRC	Thrombocytopenia, autosomal dominant, 6
STK4	T-cell immunodeficiency syndrome, recurrent infections, autoimmunity, with or without cardiac malformations
STX16	Pseudohypoparathyroidism, type IB
TGM6	Spinocerebellar ataxia 35
TUBB1	Macrothrombocytopenia, autosomal dominant, TUBB1-related
VSX1	Craniofacial anomalies and anterior segment dysgenesis syndrome Keratoconus 1 Corneal dystrophy, posterior polymorphous
ZNF335	Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 2827
Number of Genes: 267

Export to: CSV

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AAR2
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	001 final	20	rs369290761 dbSNP Clinvar	34832791	827.77	C	T	PASS	0/1	92	SYNONYMOUS_CODING	LOW	SILENT			0.00015				None None	None None None None	AAR2\|0.190803535\|37.72%
ABHD12
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	001 final	20	rs10966 dbSNP Clinvar	25282944	1027.77	A	G	PASS	0/1	73	SYNONYMOUS_CODING	LOW	SILENT	0.54153	0.54150	0.44141				None None	None None None None	ABHD12\|0.092039068\|52.8%
	View	001 final	20	rs6107027 dbSNP Clinvar	25288632	932.77	G	A	PASS	0/1	116	SYNONYMOUS_CODING	LOW	SILENT	0.33606	0.33610	0.43465				None None	None None None None	ABHD12\|0.092039068\|52.8%
ACSS1
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	001 final	20	rs6050259 dbSNP Clinvar	25011423	2174.77	T	C	PASS	0/1	190	SYNONYMOUS_CODING	LOW	SILENT	0.22264	0.22260	0.30540				None None	None None None None	ACSS1\|0.048821607\|63.01%
	View	001 final	20	rs6115003 dbSNP Clinvar	25000734	2236.77	G	A	PASS	0/1	189	SYNONYMOUS_CODING	LOW	SILENT	0.10903	0.10900	0.13609				None None	None None None None	ACSS1\|0.048821607\|63.01%
	View	001 final	20	rs6115001 dbSNP Clinvar	24994275	707.77	G	A	PASS	0/1	51	SYNONYMOUS_CODING	LOW	SILENT	0.07568	0.07568	0.10403				None None	None None None None	ACSS1\|0.048821607\|63.01%
ACSS2
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	001 final	20	rs4911163 dbSNP Clinvar	33470694	560.77	C	T	PASS	0/1	61	SYNONYMOUS_CODING	LOW	SILENT	0.51218	0.51220	0.43434				None None	None None None None	ACSS2\|0.488270454\|16.4%
ACTR5
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	001 final	20	rs774727713 dbSNP Clinvar	37377389	889.77	C	T	PASS	0/1	89	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ACTR5\|0.119979077\|47.44%
ADA
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	001 final	20	rs244076 dbSNP Clinvar	43252915	1104.77	T	C	PASS	0/1	97	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.26578	0.26580	0.24858				None None	None None None None	ADA\|0.574821556\|12.82%
	View	001 final	20	rs394105 dbSNP Clinvar	43264927	3484.77	C	T	PASS	1/1	116	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.98223	0.98220	0.01538				None None	None None None None	ADA\|0.574821556\|12.82%
ADAM33
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	001 final	20	rs528557 dbSNP Clinvar	3651742	3586.77	C	G	PASS	1/1	108	SYNONYMOUS_CODING	LOW	SILENT	0.38778	0.38780	0.38944				None None	None None None None	ADAM33\|0.021575059\|73.4%
	View	001 final	20	rs3918396 dbSNP Clinvar	3651765	1546.77	C	T	PASS	0/1	125	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.04812	0.04812	0.06517	0.75	0.01		None None	None None None None	ADAM33\|0.021575059\|73.4%
	View	001 final	20	rs2271511 dbSNP Clinvar	3654433	2363.77	C	T	PASS	0/1	186	SYNONYMOUS_CODING	LOW	SILENT	0.27536	0.27540	0.21291				None None	None None None None	ADAM33\|0.021575059\|73.4%
	View	001 final	20	rs2280091 dbSNP Clinvar	3650234	1343.77	A	G	PASS	0/1	99	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.13419	0.13420	0.13396	0.28	0.02		None None	None None None None	ADAM33\|0.021575059\|73.4%
	View	001 final	20	rs2280090 dbSNP Clinvar	3650205	990.77	G	A	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.14437	0.14440	0.13559	0.10	0.01		None None	None None None None	ADAM33\|0.021575059\|73.4%
ADRA1D
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	001 final	20	rs35105284 dbSNP Clinvar	4228735	6754.77	C	T	PASS	0/1	536	SYNONYMOUS_CODING	LOW	SILENT	0.20487	0.20490	0.22072				None None	None None None None	ADRA1D\|0.152836614\|42.55%