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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABHD12B, ACIN1, ACOT2, ACOT4, ACOT6, ADAM21, ADCK1, ADCY4, AE000662.92, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AL133373.1, AL139099.1, ANG, APEX1, APOPT1, ARG2, ARHGEF40, ARID4A, ASB2, ATG2B, ATL1, ATP5S, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, C14orf105, C14orf132, C14orf159, C14orf166B, C14orf180, C14orf182, C14orf2, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, C14orf93, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEBPE, CEP170B, CHD8, CHMP4A, CMA1, CMTM5, COCH, CPNE6, CRIP1, CTAGE5, CTD-2547L24.3, DAAM1, DACT1, DCAF4, DCAF5, DDHD1, DDX24, DEGS2, DHRS7, DIO2, DLK1, DNAAF2, DPF3, DYNC1H1, EAPP, EDDM3A, EDDM3B, EFCAB11, EFS, ELMSAN1, ESR2, ESRRB, EVL, EXD2, EXOC3L4, FAM181A, FAM71D, FBLN5, FERMT2, FLRT2, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GOLGA5, GPATCH2L, GPR135, GPR137C, GPR68, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFT43, IGHA1, IGHA2, IGHD, IGHD2-2, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-24, IGHV1-3, IGHV1-58, IGHV1-69, IGHV2-5, IGHV2-70, IGHV3-11, IGHV3-13, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-66, IGHV3-7, IGHV4-28, IGHV4-31, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-51, IGHV7-81, IL25, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHDC2, KLHL33, L2HGDH, L3HYPDH, LGMN, LRFN5, LRR1, LRRC16B, LRRC9, MAP3K9, MAP4K5, MARK3, MBIP, MDGA2, METTL3, MIA2, MIS18BP1, MLH3, MMP14, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NKX2-1, NOP9, NPAS3, NRDE2, NUDT14, NUMB, OR10G3, OR11G2, OR11H12, OR11H7, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4L1, OR4M1, OR4N2, OR4Q2, OR4Q3, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OXA1L, PAPLN, PARP2, PAX9, PCK2, PCNX, PCNXL4, PLEKHG3, PLEKHH1, PNN, POLE2, POMT2, POTEG, POTEM, PPP1R36, PRIMA1, PRKCH, PRKD1, PSMB5, PSME2, PTGDR, PYGL, RAD51B, REC8, REM2, RIN3, RNASE2, RNASE3, RNASE4, RNASE7, RNASE9, RNF31, RP11-131H24.4, RP11-187E13.1, RP11-796G6.2, RP11-80A15.1, RPGRIP1, RPS6KL1, RTL1, RTN1, SALL2, SAMD4A, SDR39U1, SEC23A, SERPINA10, SERPINA11, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SFTA3, SIPA1L1, SIX1, SIX6, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SNAPC1, SNW1, SNX6, SOS2, SPTB, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TDRD9, TECPR2, TEP1, TMEM121, TMEM253, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOX4, TPPP2, TRAF3, TRAJ13, TRAJ16, TRAJ32, TRAJ36, TRAJ37, TRAV1-1, TRAV12-2, TRAV13-1, TRAV14DV4, TRAV20, TRAV21, TRAV24, TRAV25, TRAV26-1, TRAV27, TRAV29DV5, TRAV30, TRAV35, TRAV36DV7, TRAV6, TRAV8-4, TRAV8-6, TRAV8-7, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UBR7, UNC79, VASH1, VRK1, VSX2, WARS, WDR20, WDR25, YLPM1, ZBTB1, ZBTB42, ZC2HC1C, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF839,

+ Genes associated with diseases 68

Genes at Omim

AK7, ANG, APOPT1, ATL1, BMP4, CCDC88C, CEBPE, CHD8, COCH, DACT1, DDHD1, DYNC1H1, ESR2, ESRRB, FBLN5, FUT8, GALC, GPR68, GSTZ1, IFT43, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, NKX2-1, OSGEP, PAX9, PCK2, POMT2, PRKCH, PRKD1, PTGDR, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SOS2, SPTB, SPTLC2, SYNE2, TDRD9, TECPR2, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, WARS, ZBTB42, ZFHX2, ZFYVE26,

AK7	?Spermatogenic failure 27, 617965 (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)
BMP4	Microphthalmia, syndromic 6, 607932 (3) Orofacial cleft 11, 600625 (3)
CCDC88C	Hydrocephalus, congenital, 1, 236600 (3) ?Spinocerebellar ataxia 40, 616053 (3)
CEBPE	Specific granule deficiency, 245480 (3)
CHD8	{Autism, susceptibility to, 18}, 615032 (3)
COCH	Deafness, autosomal dominant 9, 601369 (3) ?Deafness, autosomal recessive 110, 618094 (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)
ESR2	?Ovarian dysgenesis 8, 618187 (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)
IFT43	?Cranioectodermal dysplasia 3, 614099 (3) ?Retinitis pigmentosa 81, 617871 (3) Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
IGHG2	IgG2 deficiency, selective (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)
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)
MMP14	?Winchester syndrome, 277950 (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)
NKX2-1	Chorea, hereditary benign, 118700 (3) Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3) {Thyroid cancer, nonmedullary, 1}, 188550 (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)
PTGDR	{Asthma, susceptibility to, 1}, 607277 (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)
SERPINA3	Alpha-1-antichymotrypsin deficiency (3) Cerebrovascular disease, occlusive (3)
SIX1	Branchiootic syndrome 3, 608389 (3) Deafness, autosomal dominant 23, 605192 (3)
SIX6	Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
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)
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)
TRAF3	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (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)
VRK1	Pontocerebellar hypoplasia type 1A, 607596 (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

ANG, APOPT1, ATL1, BMP4, CCDC88C, CEBPE, CHD8, COCH, DNAAF2, DYNC1H1, ESRRB, FBLN5, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, NKX2-1, PAX9, POMT2, PYGL, RPGRIP1, SALL2, SEC23A, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SOS2, SPTB, SYNE2, TECPR2, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,

ANG	Amyotrophic lateral sclerosis 9
APOPT1	Mitochondrial complex IV deficiency
ATL1	Neuropathy, hereditary sensory, type 1D Spastic paraplegia 3, autosomal dominant
BMP4	Microphthalmia, syndromic 6 Orofacial cleft 11
CCDC88C	Spinocerebellar ataxia 40
CEBPE	Specific granule deficiency
CHD8	Autism, susceptibility to 18
COCH	Deafness, autosomal dominant 9
DNAAF2	Ciliary dyskinesia, primary, 10
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
IFT43	Cranioectodermal dysplasia 3
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
MLH3	Colorectal cancer, hereditary nonpolyposis type 7 Endometrial carcinoma
MMP14	Winchester syndrome
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
NKX2-1	Choreoathetosis, hypothyroidism, and neonatal respiratory distress Thyroid cancer, nonmedullary 1
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
SERPINA6	Corticosteroid-binding globulin deficiency
SIX1	Deafness, autosomal dominant 23 Branchiootorenal syndrome 3 Branchiootic syndrome 3
SIX6	Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4	Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7	Lysinuric protein intolerance
SOS2	Noonan syndrome 9
SPTB	Spherocytosis, type 2 Ellipsocytosis, type 3 Anemia, neonatal hemolytic
SYNE2	Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TECPR2	Spastic paraplegia 49, autosomal recessive
TRAF3	Herpes simplex encephalitis, susceptibility to, 3
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
VRK1	Pontocerebellar hypoplasia type 1A
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: 2298
Number of Genes: 377

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	pdb336 vep	14	rs17123116 dbSNP Clinvar	51371081	2110.77	A	C	.	0/1	190	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%
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	pdb336 vep	14	rs3811182 dbSNP Clinvar	23549785	8242.77	T	C	.	1/1	235	NON_SYNONYMOUS_CODING	MODERATE	None	0.50080	0.50080	0.49300	0.54	0.00	-2.51	None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	pdb336 vep	14	rs45510791 dbSNP Clinvar	23549383	1408.77	G	T	.	0/1	121	SYNONYMOUS_CODING	LOW	None	0.05172	0.05172	0.00023				None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	pdb336 vep	14	rs941719 dbSNP Clinvar	23549379	4858.77	C	G	.	1/1	126	NON_SYNONYMOUS_CODING	MODERATE	None	0.99960	0.99960	0.00338	1.00	0.00	1.54	None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	pdb336 vep	14	rs781019754 dbSNP Clinvar	23549352	2151.73	TAGG	T	.	0/1	110	CODON_DELETION	MODERATE	None							None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	pdb336 vep	14	rs1885097 dbSNP Clinvar	23549319	3700.77	A	G	.	1/1	110	NON_SYNONYMOUS_CODING	MODERATE	None	0.42832	0.42830	0.44526	0.13	0.00	0.34	None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	pdb336 vep	14	rs3751501 dbSNP Clinvar	23549285	1305.77	G	A	.	0/1	90	NON_SYNONYMOUS_CODING	MODERATE	None	0.05172	0.05172	0.04406	0.00	0.66	5.72	None None	None None None None	ACIN1\|0.717450786\|8.04%
	View	pdb336 vep	14	rs3077646 dbSNP Clinvar	23548783	14024.73	A	AG...	.	1/1	312	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	pdb336 vep	14	rs61745081 dbSNP Clinvar	23564437	4159.77	T	C	.	0/1	348	NON_SYNONYMOUS_CODING	MODERATE	None	0.00699	0.00699	0.01153	0.00	0.14	4.37	None None	None None None None	ACIN1\|0.717450786\|8.04%,C14orf119\|0.351390821\|24.02%
ACOT2
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	pdb336 vep	14	rs7494 dbSNP Clinvar	74042189	285.77	A	G	.	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None				0.21	0.00	-1.55	None None	None None None None	ACOT2\|0.010972761\|80.08%
	View	pdb336 vep	14	rs149033118 dbSNP Clinvar	74041748	985.77	A	G	.	1/1	27	NON_SYNONYMOUS_CODING	MODERATE	None				0.30	0.00	-2.23	None None	None None None None	ACOT2\|0.010972761\|80.08%
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	pdb336 vep	14	rs373880503 dbSNP Clinvar	74060511	576.73	T	TTCAA	.	0/1	65	FRAME_SHIFT	HIGH	None	0.00120	0.00120					None None	None None None None	ACOT4\|0.025540514\|71.55%
	View	pdb336 vep	14	rs2010070 dbSNP Clinvar	74061968	9608.77	T	C	.	1/1	290	SYNONYMOUS_CODING	LOW	None	0.86182	0.86180	0.20060				None None	None None None None	ACOT4\|0.025540514\|71.55%
	View	pdb336 vep	14	rs375801976 dbSNP Clinvar	74060513	570.73	GCTTA	G	.	0/1	64	FRAME_SHIFT	HIGH	None			0.07753				None None	None None None None	ACOT4\|0.025540514\|71.55%
	View	pdb336 vep	14	rs35724886 dbSNP Clinvar	74060508	546.77	C	A	.	0/1	61	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.07428	0.07428	0.07022	0.00	1.00	7.20	None None	None None None None	ACOT4\|0.025540514\|71.55%
ACOT6
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	pdb336 vep	14	rs17782052 dbSNP Clinvar	74086415	2544.77	G	A	.	0/1	188	NON_SYNONYMOUS_CODING	MODERATE	None	0.02356	0.02356	0.06297	1.00	0.00	-1.44	None None	None None None None	ACOT6\|0.10045383\|51.07%
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	pdb336 vep	14	rs12436346 dbSNP Clinvar	70925257	903.77	A	G	.	1/1	25	SYNONYMOUS_CODING	LOW	None			0.02736				None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs3751521 dbSNP Clinvar	70924249	459.77	A	G	.	0/1	78	SYNONYMOUS_CODING	LOW	None	0.64836	0.64840	0.37315				None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs3751520 dbSNP Clinvar	70924237	419.77	C	A	.	0/1	70	SYNONYMOUS_CODING	LOW	None	0.37460	0.37460					None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs8010994 dbSNP Clinvar	70924501	3226.77	C	G	.	0/1	107	NON_SYNONYMOUS_CODING	MODERATE	None				0.06	0.00	-0.77	None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs3751523 dbSNP Clinvar	70924462	5275.77	A	G	.	1/1	159	SYNONYMOUS_CODING	LOW	None			0.19437				None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs3751524 dbSNP Clinvar	70924507	1127.77	A	C	.	0/1	98	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs2022624 dbSNP Clinvar	70925818	184.77	T	C	.	0/1	246	SYNONYMOUS_CODING	LOW	None	0.74301	0.74300					None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs58247196 dbSNP Clinvar	70924450	217.77	C	T	.	0/1	171	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAM21\|0.009866102\|80.97%
	View	pdb336 vep	14	rs3829455 dbSNP Clinvar	70924852	1435.77	A	C	.	0/1	193	SYNONYMOUS_CODING	LOW	None	0.44070	0.44070	0.36028				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	pdb336 vep	14	rs2302944 dbSNP Clinvar	78390880	1123.77	T	C	.	0/1	128	SYNONYMOUS_CODING	LOW	None	0.23463	0.23460	0.20022				None None	None None None None	ADCK1\|0.142961952\|44%
ADCY4
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	pdb336 vep	14	rs77202343 dbSNP Clinvar	24803710	2434.77	G	A	.	0/1	187	NON_SYNONYMOUS_CODING	MODERATE	None	0.00839	0.00839	0.01473	0.21	0.77	3.56	None None	None None None None	ADCY4\|0.342968344\|24.64%
AE000662.92
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	pdb336 vep	14	rs12888861 dbSNP Clinvar	23025932	642.77	A	T	.	0/1	44	SYNONYMOUS_CODING	LOW	None	0.62840	0.62840					None None	None None None None	None
AHNAK2
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	pdb336 vep	14	rs201127689 dbSNP Clinvar	105415279	448.77	T	C	.	1/1	12	NON_SYNONYMOUS_CODING	MODERATE	None	0.12620	0.12620		0.03	1.00	1.39	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs146449084 dbSNP Clinvar	105415281	448.77	G	C	.	1/1	8	SYNONYMOUS_CODING	LOW	None	0.12660	0.12660					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs140868446 dbSNP Clinvar	105415290	241.84	A	C	.	1/1	4	SYNONYMOUS_CODING	LOW	None	0.02196	0.06789					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs117379881 dbSNP Clinvar	105415745	16767.77	C	G	.	1/1	373	NON_SYNONYMOUS_CODING	MODERATE	None	0.27716	0.27720	0.42009	0.31	0.95	1.49	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs12433837 dbSNP Clinvar	105412541	6319.77	C	T	.	1/1	140	NON_SYNONYMOUS_CODING	MODERATE	None	0.51857	0.51860	0.26354	1.00	0.12	-2.89	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2582513 dbSNP Clinvar	105414790	24493.77	A	G	.	1/1	565	NON_SYNONYMOUS_CODING	MODERATE	None	0.56310	0.56310	0.41529	1.00	0.00	-1.05	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs11851053 dbSNP Clinvar	105407208	5607.77	T	C	.	1/1	168	SYNONYMOUS_CODING	LOW	None	0.55491	0.55490	0.41696				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs9672139 dbSNP Clinvar	105408182	14170.77	T	G	.	1/1	419	NON_SYNONYMOUS_CODING	MODERATE	None	0.52756	0.52760	0.44488	1.00	0.02	-2.43	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs55797226 dbSNP Clinvar	105413223	19552.77	A	G	.	1/1	463	SYNONYMOUS_CODING	LOW	None	0.52716	0.52720	0.44573				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs11848564 dbSNP Clinvar	105413790	16676.77	G	A	.	1/1	499	SYNONYMOUS_CODING	LOW	None	0.35044	0.35040	0.48287				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs60754080 dbSNP Clinvar	105414238	16397.77	C	A	.	1/1	370	NON_SYNONYMOUS_CODING	MODERATE	None	0.48023	0.48020	0.44926	1.00	0.00	-0.47	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs60106058 dbSNP Clinvar	105414252	17498.77	C	T	.	1/1	406	SYNONYMOUS_CODING	LOW	None	0.45487	0.45490	0.47157				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs118171013 dbSNP Clinvar	105415748	16814.77	G	A	.	1/1	379	NON_SYNONYMOUS_CODING	MODERATE	None	0.30032	0.30030	0.44101	1.00	0.00	-2.60	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2819429 dbSNP Clinvar	105414280	16055.77	T	G	.	1/1	490	NON_SYNONYMOUS_CODING	MODERATE	None	0.84325	0.84330	0.10362	0.04	0.17	-0.08	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs10145032 dbSNP Clinvar	105414810	25354.77	C	G	.	1/1	595	SYNONYMOUS_CODING	LOW	None	0.53235	0.53230	0.43901				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs77154428 dbSNP Clinvar	105412066	5476.77	C	T	.	1/1	172	NON_SYNONYMOUS_CODING	MODERATE	None		0.00140		0.00	0.05	2.19	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs28714612 dbSNP Clinvar	105412009	3868.77	A	G	.	1/1	94	NON_SYNONYMOUS_CODING	MODERATE	None	0.38518	0.38520		0.21	0.00	-2.27	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2819422 dbSNP Clinvar	105408955	19987.77	A	G	.	1/1	617	NON_SYNONYMOUS_CODING	MODERATE	None	0.58067	0.58070	0.39517	0.45	0.01	-2.43	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs28564728 dbSNP Clinvar	105412005	3654.77	A	G	.	1/1	82	SYNONYMOUS_CODING	LOW	None	0.37280	0.37280	0.27296				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs28737397 dbSNP Clinvar	105411971	4361.77	T	C	.	1/1	108	NON_SYNONYMOUS_CODING	MODERATE	None	0.26158	0.26160	0.04490	0.20	0.03	-0.50	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs373797895 dbSNP Clinvar	105411957	4227.77	G	A	.	1/1	104	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs4264326 dbSNP Clinvar	105411700	16997.77	A	G	.	1/1	514	NON_SYNONYMOUS_CODING	MODERATE	None	0.56350	0.56350	0.40369	1.00	0.00	-1.16	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs10438246 dbSNP Clinvar	105410183	16015.77	T	C	.	1/1	492	NON_SYNONYMOUS_CODING	MODERATE	None	0.55591	0.55590	0.41195	1.00	0.00	-3.03	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs28380382 dbSNP Clinvar	105410827	22267.77	C	T	.	1/1	670	NON_SYNONYMOUS_CODING	MODERATE	None	0.55252	0.55250	0.41489	0.06	0.16	3.58	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2819424 dbSNP Clinvar	105410775	21208.77	A	G	.	1/1	657	SYNONYMOUS_CODING	LOW	None	0.58586	0.58590	0.39270				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs28600075 dbSNP Clinvar	105408315	14801.77	T	C	.	1/1	436	SYNONYMOUS_CODING	LOW	None	0.55551	0.55550	0.41384				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs3742935 dbSNP Clinvar	105405599	4869.77	G	C	.	1/1	144	NON_SYNONYMOUS_CODING	MODERATE	None	0.55511	0.55510	0.41569	0.02	0.67	4.64	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs28454709 dbSNP Clinvar	105405942	5336.77	G	A	.	1/1	154	SYNONYMOUS_CODING	LOW	None	0.55491	0.55490	0.41459				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2819419 dbSNP Clinvar	105406238	8996.77	A	C	.	1/1	272	NON_SYNONYMOUS_CODING	MODERATE	None	0.59086	0.59090	0.38914	0.67	0.00	-1.08	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs61421370 dbSNP Clinvar	105406372	6674.77	C	T	.	1/1	198	NON_SYNONYMOUS_CODING	MODERATE	None	0.29313	0.29310	0.42651	0.65	0.06	0.38	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs11623422 dbSNP Clinvar	105407031	6770.77	A	G	.	1/1	191	SYNONYMOUS_CODING	LOW	None	0.55491	0.55490	0.41700				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs4465542 dbSNP Clinvar	105407798	5858.77	T	C	.	1/1	178	NON_SYNONYMOUS_CODING	MODERATE	None	0.55511	0.55510	0.41678	0.99	0.00	-1.62	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs201377363 dbSNP Clinvar	105412363	99.77	T	C	.	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	None				0.07	0.99	3.83	0.00 0.12627 T	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2582511 dbSNP Clinvar	105416010	15354.77	T	C	.	1/1	457	SYNONYMOUS_CODING	LOW	None	0.58347	0.58350	0.35749				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs28593209 dbSNP Clinvar	105416649	17582.77	G	A	.	1/1	503	SYNONYMOUS_CODING	LOW	None	0.27696	0.27700	0.41438				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2582506 dbSNP Clinvar	105416685	18860.77	C	G	.	1/1	541	SYNONYMOUS_CODING	LOW	None	0.00220	0.00220	0.30909				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs34752012 dbSNP Clinvar	105416734	8078.77	T	G	.	0/1	567	NON_SYNONYMOUS_CODING	MODERATE	None	0.02196	0.02196	0.01499	0.77	0.00	-4.38	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2013462 dbSNP Clinvar	105416959	9245.77	A	G	.	1/1	266	NON_SYNONYMOUS_CODING	MODERATE	None	0.56889	0.56890	0.39068	1.00	0.00	-1.63	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2248966 dbSNP Clinvar	105417102	18841.77	T	C	.	1/1	421	SYNONYMOUS_CODING	LOW	None	0.55611	0.55610	0.39060				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs12433815 dbSNP Clinvar	105412542	6364.77	A	G	.	1/1	134	SYNONYMOUS_CODING	LOW	None	0.51757	0.51760	0.26062				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs61996045 dbSNP Clinvar	105417103	18841.77	G	A	.	1/1	420	NON_SYNONYMOUS_CODING	MODERATE	None	0.28155	0.28150	0.41613	0.11	0.66	-0.09	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2013445 dbSNP Clinvar	105417147	11965.77	A	G	.	1/1	370	SYNONYMOUS_CODING	LOW	None	0.42911	0.42910	0.46916				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs80275639 dbSNP Clinvar	105417313	323.77	T	C	.	1/1	10	NON_SYNONYMOUS_CODING	MODERATE	None			0.20535	0.09	0.91	3.08	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs79775171 dbSNP Clinvar	105417326	90.03	T	C	.	1/1	4	NON_SYNONYMOUS_CODING	MODERATE	None				0.80	0.00	-3.12	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs147978925 dbSNP Clinvar	105418149	2356.77	A	T	.	1/1	47	SYNONYMOUS_CODING	LOW	None	0.23363	0.23360					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs141600524 dbSNP Clinvar	105418155	3078.77	G	C	.	1/1	65	SYNONYMOUS_CODING	LOW	None			0.08799				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs78116894 dbSNP Clinvar	105418166	3997.77	T	C	.	1/1	99	NON_SYNONYMOUS_CODING	MODERATE	None	0.29113	0.29110		0.42	0.06	-2.75	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs78447535 dbSNP Clinvar	105418194	5804.77	A	G	.	1/1	175	SYNONYMOUS_CODING	LOW	None	0.25240	0.25240					None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs56330864 dbSNP Clinvar	105418260	13914.77	T	A	.	1/1	312	SYNONYMOUS_CODING	LOW	None	0.00779	0.00779	0.41918				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2582514 dbSNP Clinvar	105413204	18373.77	G	T	.	1/1	420	NON_SYNONYMOUS_CODING	MODERATE	None	0.56709	0.56710	0.40549	1.00	0.00	-0.15	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs55650155 dbSNP Clinvar	105418264	14241.77	G	A	.	1/1	316	NON_SYNONYMOUS_CODING	MODERATE	None	0.38299	0.38300	0.42877	1.00	0.00	0.31	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs2819441 dbSNP Clinvar	105418275	3492.77	T	C	.	0/1	352	SYNONYMOUS_CODING	LOW	None	0.00938	0.02336	0.24517				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs55791176 dbSNP Clinvar	105418344	15451.77	T	G	.	1/1	463	NON_SYNONYMOUS_CODING	MODERATE	None	0.00180	0.00180	0.48995	1.00	0.00	-3.04	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs762868199 dbSNP Clinvar	105419021	6064.77	T	A	.	0/1	431	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.62	2.68	0.01 0.16335 T	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs45448397 dbSNP Clinvar	105420134	3381.77	C	T	.	0/1	292	NON_SYNONYMOUS_CODING	MODERATE	None	0.00799	0.00799	0.00692	0.52	0.03	-0.13	None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs879210 dbSNP Clinvar	105420927	6518.77	A	G	.	1/1	192	SYNONYMOUS_CODING	LOW	None	0.31470	0.31470	0.42521				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs879209 dbSNP Clinvar	105421050	3943.77	T	G	.	1/1	117	SYNONYMOUS_CODING	LOW	None	0.30970	0.30970	0.41829				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	pdb336 vep	14	rs11160825 dbSNP Clinvar	105410411	18414.77	C	T	.	1/1	539	NON_SYNONYMOUS_CODING	MODERATE	None	0.54972	0.54970	0.41916	0.10	0.13	2.73	None None	None None None None	AHNAK2\|0.000253171\|99.62%
AHSA1
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	pdb336 vep	14	rs7250 dbSNP Clinvar	77935520	5501.77	G	A	.	1/1	168	SYNONYMOUS_CODING	LOW	None	0.47943	0.47940	0.40112				None None	None None None None	AHSA1\|0.497086001\|15.98%
	View	pdb336 vep	14	rs1061629 dbSNP Clinvar	77926011	4958.77	C	T	.	1/1	144	SYNONYMOUS_CODING	LOW	None	0.47444	0.47440	0.39497				None None	None None None None	AHSA1\|0.497086001\|15.98%
	View	pdb336 vep	14	rs1061638 dbSNP Clinvar	77928525	4511.77	A	G	.	1/1	130	SYNONYMOUS_CODING	LOW	None	0.62380	0.62380	0.40228				None None	None None None None	AHSA1\|0.497086001\|15.98%
AK7
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	pdb336 vep	14	rs2369679 dbSNP Clinvar	96922752	3958.77	C	G	.	1/1	116	NON_SYNONYMOUS_CODING	MODERATE	None	0.88459	0.88460	0.12940	1.00	0.00	-0.83	None None	None None None None	AK7\|0.025423977\|71.6%
AKAP5
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	pdb336 vep	14	rs1256149 dbSNP Clinvar	64935720	4410.77	C	T	.	1/1	132	NON_SYNONYMOUS_CODING	MODERATE	None	0.98383	0.98380	0.00008	1.00	0.00	-1.04	None None	None None None None	ZBTB25\|0.303467452\|27.4%,AKAP5\|0.028809341\|70%
AKAP6
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	pdb336 vep	14	rs35436895 dbSNP Clinvar	33004975	2396.77	G	A	.	0/1	146	SYNONYMOUS_CODING	LOW	None	0.06550	0.06550	0.08673				None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs1950703 dbSNP Clinvar	33046388	2613.77	A	G	.	0/1	233	SYNONYMOUS_CODING	LOW	None	0.86641	0.86640	0.18937				None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs2239647 dbSNP Clinvar	33292743	7143.77	A	C	.	1/1	208	SYNONYMOUS_CODING	LOW	None	0.71126	0.71130	0.34938				None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs45477296 dbSNP Clinvar	33015397	1474.77	G	T	.	0/1	95	NON_SYNONYMOUS_CODING	MODERATE	None	0.03474	0.03474	0.05536	0.08	0.02	1.43	None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs34711402 dbSNP Clinvar	33291583	2306.77	G	A	.	0/1	162	NON_SYNONYMOUS_CODING	MODERATE	None	0.00978	0.00978	0.02737	0.00	0.01	2.59	None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs1051695 dbSNP Clinvar	33293122	4431.77	A	G	.	1/1	129	NON_SYNONYMOUS_CODING	MODERATE	None	0.71026	0.71030	0.36060	0.81	0.00	-0.37	None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs17099240 dbSNP Clinvar	33015082	1681.77	A	G	.	0/1	148	NON_SYNONYMOUS_CODING	MODERATE	None	0.17612	0.17610	0.12888	1.00	0.00	-3.57	None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs4647899 dbSNP Clinvar	33293531	5953.77	T	A	.	1/1	177	NON_SYNONYMOUS_CODING	MODERATE	None	0.26837	0.26840	0.26165	0.31	0.01	1.47	None None	None None None None	AKAP6\|0.906075509\|3.33%
	View	pdb336 vep	14	rs7150894 dbSNP Clinvar	33015014	1841.77	G	A	.	0/1	151	SYNONYMOUS_CODING	LOW	None	0.72863	0.72860	0.25211				None None	None None None None	AKAP6\|0.906075509\|3.33%

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+ Genes 377

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Summary

ABHD12B

ACIN1

ACOT2

ACOT4

ACOT6

ADAM21

ADCK1

ADCY4

AE000662.92

AHNAK2

AHSA1

AK7

AKAP5

AKAP6

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