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Genes:
ABHD12B, ABHD4, ACIN1, ACOT4, ACTN1, ADAM21, ADCK1, ADSSL1, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AKT1, AL133373.1, ANG, APOPT1, ARHGEF40, ARID4A, ASB2, ASPG, ATG2B, ATL1, ATP5S, ATXN3, BAG5, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, C14orf105, C14orf144, C14orf166B, C14orf180, C14orf182, C14orf2, C14orf23, C14orf39, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC176, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEP170B, CHD8, CHMP4A, CINP, CKB, CMA1, CPNE6, CRIP1, CTAGE5, DACT1, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DHRS4L2, DIO2, DLK1, DLST, DYNC1H1, EAPP, EDDM3A, EDDM3B, ELMSAN1, EML1, ERO1L, ESRRB, EXOC3L4, FAM161B, FAM177A1, FBLN5, FERMT2, FLRT2, FOXA1, FRMD6, FSCB, FUT8, GALC, GPATCH2L, GPR137C, GPR68, GSTZ1, GZMB, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27, IGHA1, IGHD, IGHJ6, IGHM, IGHV1-3, IGHV1-58, IGHV1-69, IGHV2-5, IGHV2-70, IGHV3-43, IGHV3-64, IGHV3-73, IGHV4-39, IGHV5-51, IGHV7-81, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, LGMN, LRFN5, LRRC16B, LTB4R, LTBP2, MARK3, MBIP, MDGA2, METTL17, MIA2, MLH3, MNAT1, MTA1, MTHFD1, MYH6, MYH7, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NYNRIN, OR10G3, OR11G2, OR11H6, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4L1, OR4Q2, OR4Q3, OR5AU1, OR6S1, OSGEP, PAPLN, PAPOLA, PARP2, PAX9, PCK2, PCNX, PCNXL4, PLEKHH1, PNN, POMT2, PRIMA1, PRKCH, PRKD1, PSMC1, PYGL, RABGGTA, RAD51B, RBM23, REC8, RIN3, RNASE11, RNASE13, RNASE3, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RP11-998D10.1, RPGRIP1, RPS6KA5, RTN1, SALL2, SAMD15, SCFD1, SDR39U1, SEC23A, SERPINA1, SERPINA11, SERPINA5, SERPINA6, SERPINA9, SGPP1, SIPA1L1, SIVA1, SLC22A17, SLC24A4, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SNW1, SNX6, SOS2, SPATA7, SPTB, SPTLC2, STON2, SUPT16H, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TDRD9, TECPR2, TEP1, TMED8, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOX4, TRAJ13, TRAJ16, TRAJ32, TRAJ36, TRAJ37, TRAJ57, TRAV12-2, TRAV13-1, TRAV14DV4, TRAV20, TRAV25, TRAV35, TRAV36DV7, TRAV6, TRAV8-2, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-2, TRDV2, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UNC79, VCPKMT, VSX2, WARS, WDR25, ZBTB1, ZBTB42, ZDHHC22, ZFHX2, ZFYVE1, ZFYVE21, ZFYVE26, ZNF839,

+ Genes associated with diseases 63

Genes at Omim

ACTN1, ADSSL1, AK7, AKT1, ANG, APOPT1, ATL1, ATXN3, CCDC88C, CHD8, DACT1, DDHD1, DYNC1H1, EML1, ESRRB, FBLN5, FUT8, GALC, GPR68, GSTZ1, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, OSGEP, PAX9, PCK2, POMT2, PRKCH, PRKD1, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TDRD9, TECPR2, TMEM260, TRIP11, TRMT5, TSHR, TTLL5, WARS, ZBTB42, ZFHX2, ZFYVE26,

ACTN1	Bleeding disorder, platelet-type, 15, 615193 (3)
ADSSL1	Myopathy, distal, 5, 617030 (3)
AK7	?Spermatogenic failure 27, 617965 (3)
AKT1	Breast cancer, somatic, 114480 (3) Colorectal cancer, somatic, 114500 (3) Cowden syndrome 6, 615109 (3) {Schizophrenia, susceptibility to}, 181500 (2) Ovarian cancer, somatic, 167000 (3) Proteus syndrome, somatic, 176920 (3)
ANG	Amyotrophic lateral sclerosis 9, 611895 (3)
APOPT1	Mitochondrial complex IV deficiency, 220110 (3)
ATL1	Neuropathy, hereditary sensory, type ID, 613708 (3) Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3	Machado-Joseph disease, 109150 (3)
CCDC88C	Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3)
CHD8	{Autism, susceptibility to, 18}, 615032 (3)
DACT1	?Townes-Brocks syndrome 2, 617466 (3)
DDHD1	Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1	Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3) Mental retardation, autosomal dominant 13, 614563 (3) Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1	Band heterotopia, 600348 (3)
ESRRB	Deafness, autosomal recessive 35, 608565 (3)
FBLN5	Cutis laxa, autosomal dominant 2, 614434 (3) Cutis laxa, autosomal recessive, type IA, 219100 (3) Macular degeneration, age-related, 3, 608895 (3) Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FUT8	Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC	Krabbe disease, 245200 (3)
GPR68	Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3)
GSTZ1	[Maleylacetoacetate isomerase deficiency], 617596 (3)
IGHM	Agammaglobulinemia 1, 601495 (3)
INF2	Glomerulosclerosis, focal segmental, 5, 613237 (3) Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586	Joubert syndrome 23, 616490 (3) Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH	L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MARK3	?Visual impairment and progressive phthisis bulbi, 618283 (3)
MLH3	Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3) Colorectal cancer, somatic, 114500 (3) {Endometrial cancer, susceptibility to}, 608089 (3)
MTHFD1	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6	Atrial septal defect 3, 614089 (3) Cardiomyopathy, dilated, 1EE, 613252 (3) Cardiomyopathy, hypertrophic, 14, 613251 (3) {Sick sinus syndrome 3}, 614090 (3)
MYH7	Cardiomyopathy, dilated, 1S, 613426 (3) Cardiomyopathy, hypertrophic, 1, 192600 (3) Laing distal myopathy, 160500 (3) Left ventricular noncompaction 5, 613426 (3) Myopathy, myosin storage, autosomal dominant, 608358 (3) Myopathy, myosin storage, autosomal recessive, 255160 (3) Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9	Lethal congenital contracture syndrome 10, 617022 (3) Nevus comedonicus, somatic, 617025 (3) ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA	Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN	?Seckel syndrome 7, 614851 (3)
OSGEP	Galloway-Mowat syndrome 3, 617729 (3)
PAX9	Tooth agenesis, selective, 3, 604625 (3)
PCK2	PEPCK deficiency, mitochondrial, 261650 (1)
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH	{Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1	Congenital heart defects and ectodermal dysplasia, 617364 (3)
PYGL	Glycogen storage disease VI, 232700 (3)
RPGRIP1	Cone-rod dystrophy 13, 608194 (3) Leber congenital amaurosis 6, 613826 (3)
SALL2	?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A	Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1	Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3) Emphysema due to AAT deficiency, 613490 (3) Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) {Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SLC24A4	Amelogenesis imperfecta, type IIA5, 615887 (3) [Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3) [Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7	Lysinuric protein intolerance, 222700 (3)
SOS2	Noonan syndrome 9, 616559 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB	Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3) Elliptocytosis-3, 617948 (3) Spherocytosis, type 2, 616649 (3)
SPTLC2	Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TDRD9	?Spermatogenic failure 30, 618110 (3)
TECPR2	Spastic paraplegia 49, autosomal recessive, 615031 (3)
TMEM260	Structural heart defects and renal anomalies syndrome, 617478 (3)
TRIP11	Achondrogenesis, type IA, 200600 (3) Osteochondrodysplasia, 184260 (3)
TRMT5	Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR	Hyperthyroidism, familial gestational, 603373 (3) Hyperthyroidism, nonautoimmune, 609152 (3) Hypothyroidism, congenital, nongoitrous, 1 275200 (3) Thyroid adenoma, hyperfunctioning, somatic (3) Thyroid carcinoma with thyrotoxicosis (3)
TTLL5	Cone-rod dystrophy 19, 615860 (3)
WARS	Neuronopathy, distal hereditary motor, type IX, 617721 (3)
ZBTB42	?Lethal congenital contracture syndrome 6, 616248 (3)
ZFHX2	?Marsili syndrome, 147430 (3)
ZFYVE26	Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ACTN1, AKT1, ANG, APOPT1, ATL1, ATXN3, CCDC88C, CHD8, DYNC1H1, ESRRB, FBLN5, GALC, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MTHFD1, MYH6, MYH7, NFKBIA, NIN, PAX9, POMT2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SYNE2, TECPR2, TRIP11, TRMT5, TSHR, TTLL5, VSX2, ZBTB42, ZFYVE26,

ACTN1	Bleeding disorder, platelet-type, 15
AKT1	Cowden syndrome 6 Proteus syndrome
ANG	Amyotrophic lateral sclerosis 9
APOPT1	Mitochondrial complex IV deficiency
ATL1	Neuropathy, hereditary sensory, type 1D Spastic paraplegia 3, autosomal dominant
ATXN3	Spinocerebellar ataxia 3 (Machado-Joseph disease)
CCDC88C	Spinocerebellar ataxia 40
CHD8	Autism, susceptibility to 18
DYNC1H1	Charcot-Marie-Tooth disease, axonal, type 2O Mental retardation, autosomal dominant 13 Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB	Deafness, autosomal recessive 35
FBLN5	Macular degeneration, age-related 3 Cutis laxa, autosomal dominant 2 Cutis laxa, autosomal recessive, type IA
GALC	Krabbe disease
IGHM	Agammaglobulinemia 1
INF2	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586	Joubert syndrome 23 Short rib thoracic dysplasia 14 with polydactyly
L2HGDH	L-2-hydroxyglutaric aciduria
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MLH3	Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma
MTHFD1	Severe combined immunodeficiency
MYH6	Cardiomyopathy, dilated, 1EE Cardiomyopathy, familial hypertrophic 14
MYH7	Cardiomyopathy, dilated, 1S Cardiomyopathy, familial hypertrophic Myopathy, distal Myopathy, myosin storage, autosomal recessive
NFKBIA	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN	Seckel syndrome 7
PAX9	Tooth agenesis, selective, 3
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL	Glycogen storage disease VI
RPGRIP1	Leber congenital amaurosis 6 Cone-rod dystrophy 13
SALL2	Ocular coloboma
SEC23A	Craniolenticulosutural dysplasia
SERPINA1	Alpha-1-Antitrypsin deficiency
SERPINA6	Corticosteroid-binding globulin deficiency
SLC24A4	Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7	Lysinuric protein intolerance
SOS2	Noonan syndrome 9
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB	Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TECPR2	Spastic paraplegia 49, autosomal recessive
TRIP11	Achondrogenesis, type IA
TRMT5	Combined oxidative phosphorylation deficiency 26
TSHR	Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1
TTLL5	Cone-rod dystrophy 19
VSX2	Microphthalmia, isolated 2 Microphthalmia, isolated, with coloboma 3
ZBTB42	Lethal congenital contracture syndrome 6
ZFYVE26	Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 2619
Number of Genes: 294

Export to: CSV

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ABHD12B
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	ht12d final	14	rs17123116 dbSNP Clinvar	51371081	986.77	A	C	PASS	0/1	54	SYNONYMOUS_CODING	LOW	None	0.04014	0.04014	0.02922				None None	None None None None	PYGL\|0.75708561\|6.92%,ABHD12B\|0.032837943\|68.22%
	View	ht12d final	14	rs28564871 dbSNP Clinvar	51368610	900.77	A	G	PASS	0/1	49	NON_SYNONYMOUS_CODING	MODERATE	None	0.28375	0.28370	0.17772	1.00	0.00		None None	None None None None	PYGL\|0.75708561\|6.92%,ABHD12B\|0.032837943\|68.22%
ABHD4
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	ht12d final	14	rs72677597 dbSNP Clinvar	23078810	114.77	A	T	PASS	0/1	17	SYNONYMOUS_CODING	LOW	None	0.10723	0.10720	0.12348				None None	None None None None	ABHD4\|0.265560662\|30.22%
ACIN1
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	ht12d final	14	rs941719 dbSNP Clinvar	23549379	2892.77	C	G	PASS	1/1	81	NON_SYNONYMOUS_CODING	MODERATE	None	0.99960	0.99960	0.00338	1.00	0.00		None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	ht12d final	14	rs3077646 dbSNP Clinvar	23548783	10764.77	A	AG...	PASS	1/1	233	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.38778	0.38780	0.49976				None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	ht12d final	14	rs3811182 dbSNP Clinvar	23549785	6274.77	T	C	PASS	1/1	177	NON_SYNONYMOUS_CODING	MODERATE	None	0.50080	0.50080	0.49300	0.54	0.00		None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	ht12d final	14	rs1885097 dbSNP Clinvar	23549319	2805.77	A	G	PASS	1/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.42832	0.42830	0.44526	0.13	0.00		None None	None None None None	ACIN1\|0.717450786\|8.04%
ACOT4
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	ht12d final	14	rs2010070 dbSNP Clinvar	74061968	6049.77	T	C	PASS	1/1	175	SYNONYMOUS_CODING	LOW	None	0.86182	0.86180	0.20060				None None	None None None None	ACOT4\|0.025540514\|71.55%
	View	ht12d final	14	rs3742819 dbSNP Clinvar	74058832	1222.77	C	T	PASS	1/1	33	NON_SYNONYMOUS_CODING	MODERATE	None	0.39697	0.39700	0.25100	0.04	0.74		None None	None None None None	ACOT4\|0.025540514\|71.55%
ACTN1
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	ht12d final	14	rs15993 dbSNP Clinvar	69352230	1499.77	G	A	PASS	1/1	45	SYNONYMOUS_CODING	LOW	None	0.23163	0.23160	0.18361				None None	None None None None	ACTN1\|0.514986607\|15.15%
	View	ht12d final	14	rs1054200 dbSNP Clinvar	69356932	4442.77	G	T	PASS	1/1	136	SYNONYMOUS_CODING	LOW	None	0.01218	0.01218	0.02038				None None	None None None None	ACTN1\|0.514986607\|15.15%
ADAM21
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	ht12d final	14	rs3751524 dbSNP Clinvar	70924507	1897.77	A	C	PASS	0/1	68	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	ht12d final	14	rs8010994 dbSNP Clinvar	70924501	2823.77	C	G	PASS	1/1	60	NON_SYNONYMOUS_CODING	MODERATE	None				0.06	0.00		None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	ht12d final	14	rs3751523 dbSNP Clinvar	70924462	2214.77	A	G	PASS	1/1	63	SYNONYMOUS_CODING	LOW	None			0.19437				None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	ht12d final	14	rs12436346 dbSNP Clinvar	70925257	998.77	A	G	MG_SNP_Filter	1/1	27	SYNONYMOUS_CODING	LOW	None			0.02736				None None	None None None None	ADAM21\|0.009866102\|80.97%
ADCK1
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	ht12d final	14	rs2302944 dbSNP Clinvar	78390880	3466.77	T	C	PASS	1/1	102	SYNONYMOUS_CODING	LOW	None	0.23463	0.23460	0.20022				None None	None None None None	ADCK1\|0.142961952\|44%
ADSSL1
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