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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA7, ABCC8, ADAMTS16, AFG3L2, ALDH16A1, ALDH9A1, ALOXE3, ALPL, AMACR, ANKS4B, ARFRP1, ATP6V1G2-DDX39B, ATXN1, BTN1A1, C1QL1, C1orf111, C3, C4A, C6orf47, C7orf60, CACNA1E, CCNA2, CD72, CDC42BPG, CDH12, CDK10, CEACAM19, CER1, CFTR, CIDEA, CLUL1, COG7, COL6A3, DDX58, DNAH11, DNAH5, DNAI1, DOCK8, DRD4, DTNBP1, ECE1, ELANE, ELAVL2, ELMO2, EXOSC3, FAM151A, FANCE, FBXO10, FNBP1L, FOXC1, FOXF2, FREM1, FUT3, FUT6, GLDC, GLI4, GOLGA2, GOLGA6L2, GPX4, GTPBP1, GUCY2C, HAS3, HCN2, HES2, HFE, HIP1R, HMHA1, HTR5A, HTT, IBA57, IFITM3, IFITM5, IFNA10, IFNA17, IL7R, INSR, INSRR, IRX4, JAK2, KANK1, KDM4C, KIAA1432, KLB, KLC2, KLHL9, KMT2A, KRT9, LAMA1, LEPREL2, LIAS, LIFR, LILRB2, LMNB2, MCAM, MPP1, MUC2, MUC6, MYOM1, NDUFV2, NEDD9, NELFCD, NEU1, NHLRC1, NR1H3, NUB1, NUDT8, NUP155, OAZ1, OR6V1, OXCT1, PDE6C, PDHA1, PIEZO2, PIWIL2, PKD1L1, PNPLA2, POLR2A, POLRMT, PRDM9, PRKG1, PRX, PTPN6, RAPGEF3, RP11-302B13.5, RPS15, RSPH10B, SCARA3, SDHA, SH3GL1, SHPK, SIRT5, SLC17A3, SLC1A1, SLC24A2, SLC25A22, SLC39A7, SLC6A5, SMARCA2, SPTA1, STK36, SURF6, SUSD1, TAF1L, TAS2R13, TBXA2R, TEK, TICAM1, TLR7, TMEM204, TNFRSF6B, TNXB, TOPORS, TRIO, TRIT1, TRPC1, TRPM7, TRPV1, TUBB2B, TYRO3, UQCC2, USP47, UTS2R, VCP, VLDLR, WDFY4, WNT3A, ZER1, ZNF106, ZNF564,

+ Genes associated with diseases 82

Genes at Omim

ABCA7, ABCC8, AFG3L2, ALOXE3, ALPL, AMACR, ATXN1, C3, C4A, CACNA1E, CDK10, CFTR, COG7, COL6A3, DDX58, DNAH11, DNAH5, DNAI1, DOCK8, DRD4, DTNBP1, ECE1, ELANE, ELMO2, EXOSC3, FANCE, FOXC1, FREM1, FUT3, FUT6, GLDC, GPX4, GUCY2C, HFE, HTT, IBA57, IFITM3, IFITM5, IL7R, INSR, JAK2, KANK1, KLC2, KMT2A, KRT9, LAMA1, LIAS, LIFR, LMNB2, NDUFV2, NEU1, NHLRC1, NUP155, OXCT1, PDE6C, PDHA1, PIEZO2, PKD1L1, PNPLA2, PRKG1, PRX, SDHA, SH3GL1, SHPK, SLC17A3, SLC1A1, SLC25A22, SLC6A5, SMARCA2, SPTA1, TBXA2R, TEK, TICAM1, TNXB, TOPORS, TRIO, TRIT1, TRPM7, TUBB2B, UQCC2, VCP, VLDLR,

ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCC8	Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) Hypoglycemia of infancy, leucine-sensitive, 240800 (3) Diabetes mellitus, noninsulin-dependent, 125853 (3) Diabetes mellitus, permanent neonatal, 606176 (3) Diabetes mellitus, transient neonatal 2, 610374 (3)
AFG3L2	Spastic ataxia 5, autosomal recessive, 614487 (3) Spinocerebellar ataxia 28, 610246 (3)
ALOXE3	Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ALPL	Hypophosphatasia, adult, 146300 (3) Hypophosphatasia, childhood, 241510 (3) Hypophosphatasia, infantile, 241500 (3) Odontohypophosphatasia, 146300 (3)
AMACR	Alpha-methylacyl-CoA racemase deficiency, 614307 (3) Bile acid synthesis defect, congenital, 4, 214950 (3)
ATXN1	Spinocerebellar ataxia 1, 164400 (3)
C3	{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3) C3 deficiency, 613779 (3) {Macular degeneration, age-related, 9}, 611378 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
CACNA1E	Epileptic encephalopathy, early infantile, 69, 618285 (3)
CDK10	Al Kaissi syndrome, 617694 (3)
CFTR	{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
COG7	Congenital disorder of glycosylation, type IIe, 608779 (3)
COL6A3	Bethlem myopathy 1, 158810 (3) Dystonia 27, 616411 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
DDX58	Singleton-Merten syndrome 2, 616298 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1	Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (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)
DTNBP1	Hermansky-Pudlak syndrome 7, 614076 (3)
ECE1	{Hypertension, essential, susceptibility to}, 145500 (3) ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
ELANE	Neutropenia, cyclic, 162800 (3) Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ELMO2	Vascular malformation, primary intraosseous, 606893 (3)
EXOSC3	Pontocerebellar hypoplasia, type 1B, 614678 (3)
FANCE	Fanconi anemia, complementation group E, 600901 (3)
FOXC1	Anterior segment dysgenesis 3, multiple subtypes, 601631 (3) Axenfeld-Rieger syndrome, type 3, 602482 (3)
FREM1	Bifid nose with or without anorectal and renal anomalies, 608980 (3) Manitoba oculotrichoanal syndrome, 248450 (3) Trigonocephaly 2, 614485 (3)
FUT3	[Blood group, Lewis] (3)
FUT6	Fucosyltransferase 6 deficiency, 613852 (3)
GLDC	Glycine encephalopathy, 605899 (3)
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GUCY2C	Diarrhea 6, 614616 (3) Meconium ileus, 614665 (3)
HFE	Hemochromatosis, 235200 (3) {Microvascular complications of diabetes 7}, 612635 (3) {Porphyria cutanea tarda, susceptibility to}, 176100 (3) {Porphyria variegata, susceptibility to}, 176200 (3) [Transferrin serum level QTL2], 614193 (3) {Alzheimer disease, susceptibility to}, 104300 (3)
HTT	Huntington disease, 143100 (3) Lopes-Maciel-Rodan syndrome, 617435 (3)
IBA57	Multiple mitochondrial dysfunctions syndrome 3, 615330 (3) ?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IFITM3	{Influenza, severe, susceptibility to}, 614680 (3)
IFITM5	Osteogenesis imperfecta, type V, 610967 (3)
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
INSR	Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) Leprechaunism, 246200 (3) Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3) Rabson-Mendenhall syndrome, 262190 (3)
JAK2	Leukemia, acute myeloid, somatic, 601626 (3) Erythrocytosis, somatic, 133100 (3) Myelofibrosis, somatic, 254450 (3) Polycythemia vera, somatic, 263300 (3) Thrombocythemia 3, 614521 (3) {Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1	Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KLC2	Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
KMT2A	Leukemia, myeloid/lymphoid or mixed-lineage (2) Wiedemann-Steiner syndrome, 605130 (3)
KRT9	Palmoplantar keratoderma, epidermolytic, 144200 (3)
LAMA1	Poretti-Boltshauser syndrome, 615960 (3)
LIAS	Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMNB2	{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3) ?Epilepsy, progressive myoclonic, 9, 616540 (3)
NDUFV2	Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NEU1	Sialidosis, type I, 256550 (3) Sialidosis, type II, 256550 (3)
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NUP155	?Atrial fibrillation 15, 615770 (3)
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PDE6C	Cone dystrophy 4, 613093 (3)
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PIEZO2	Arthrogryposis, distal, type 3, 114300 (3) Arthrogryposis, distal, type 5, 108145 (3) Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) ?Marden-Walker syndrome, 248700 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PNPLA2	Neutral lipid storage disease with myopathy, 610717 (3)
PRKG1	Aortic aneurysm, familial thoracic 8, 615436 (3)
PRX	Charcot-Marie-Tooth disease, type 4F, 614895 (3) Dejerine-Sottas disease, 145900 (3)
SDHA	Cardiomyopathy, dilated, 1GG, 613642 (3) Leigh syndrome, 256000 (3) Mitochondrial respiratory chain complex II deficiency, 252011 (3) Paragangliomas 5, 614165 (3)
SH3GL1	Leukemia, acute myeloid, 601626 (1)
SHPK	[Sedoheptulokinase deficiency], 617213 (3)
SLC17A3	{Gout susceptibility 4}, 612671 (3) [Uric acid concentration, serum, QTL4], 612671 (3)
SLC1A1	Dicarboxylic aminoaciduria, 222730 (3) {?Schizophrenia susceptibility 18}, 615232 (3)
SLC25A22	Epileptic encephalopathy, early infantile, 3, 609304 (3)
SLC6A5	Hyperekplexia 3, 614618 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
SPTA1	Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (3)
TBXA2R	{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TEK	Glaucoma 3, primary congenital, E, 617272 (3) Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TICAM1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TNXB	Ehlers-Danlos syndrome, classic-like, 1 606408 (3) Vesicoureteral reflux 8, 615963 (3)
TOPORS	Retinitis pigmentosa 31, 609923 (3)
TRIO	Mental retardation, autosomal dominant 44, 617061 (3)
TRIT1	Combined oxidative phosphorylation deficiency 35, 617873 (3)
TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TUBB2B	Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)
UQCC2	Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
VCP	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3) Charcot-Marie-Tooth disease, type 2Y, 616687 (3) Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)

Genes at Clinical Genomics Database

ABCC8, AFG3L2, ALOXE3, ALPL, AMACR, ATXN1, C3, C4A, CFTR, COG7, COL6A3, DDX58, DNAH11, DNAH5, DNAI1, DOCK8, DTNBP1, ECE1, ELANE, EXOSC3, FANCE, FOXC1, FREM1, FUT3, FUT6, GLDC, GPX4, GUCY2C, HFE, HTT, IBA57, IFITM5, IL7R, INSR, JAK2, KANK1, KLC2, KMT2A, KRT9, LAMA1, LIAS, LIFR, LMNB2, NDUFV2, NEU1, NHLRC1, NUP155, OXCT1, PDE6C, PDHA1, PIEZO2, PNPLA2, PRKG1, PRX, SDHA, SLC1A1, SLC25A22, SLC6A5, SMARCA2, SPTA1, TBXA2R, TEK, TICAM1, TNXB, TOPORS, TUBB2B, UQCC2, VCP, VLDLR,

ABCC8	Diabetes mellitus, transient neonatal, 2 Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia, leucine-induced
AFG3L2	Spinocerebellar ataxia 28 Spastic ataxia 5, autosomal recessive
ALOXE3	Ichthyosiform erythroderma, congenital, nonbullous, 1
ALPL	Hypophosphatasia, infantile Odontohypophosphatasia
AMACR	Bile acid synthesis defect, congenital, 4 Alpha-methylacyl-CoA racemase deficiency
ATXN1	Spinocerebellar ataxia 1
C3	Complement component 3 deficiency, autosomal recessive Hemolytic uremic syndrome, atypical, susceptibility to, 5
C4A	Blood group, Chido/Rodgers system
CFTR	Cystic fibrosis
COG7	Congenital disorder of glycosylation, type IIe
COL6A3	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Dystonia 27
DDX58	Singleton-Merten syndrome 2
DNAH11	Ciliary dyskinesia, primary, 7
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1	Ciliary dyskinesia, primary, 1
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
DTNBP1	Hermansky-Pudlak syndrome 7
ECE1	Hirschsprung disease, cardiac defects, and autonomic dysfunction
ELANE	Neutropenia, severe congenital 1, autosomal dominant Neutropenia, cyclic
EXOSC3	Pontocerebellar hypoplasia type 1B
FANCE	Fanconi anemia, complementation group E
FOXC1	Peters anomaly Axenfeld-Rieger syndrome, type 3 Iridogoiodysgenesis, type 1
FREM1	Bifid nose with or without anorectal and renal anomalies Trigonocephaly 2 Manitoba oculotrichoanal syndrome Congenital diaphragmatic hernia, autosomal recessive
FUT3	Blood group, Lewis
FUT6	Fucosyltransferase 6 deficiency
GLDC	Glycine encephalopathy
GPX4	Sedaghatian-type spondylometaphyseal dysplasia
GUCY2C	Diarrhea 6 Meconium ileus
HFE	Hemochromatosis
HTT	Huntington disease
IBA57	Multiple mitochondrial dysfunctions syndrome 3 Spastic paraplegia 74, autosomal recessive
IFITM5	Osteogenesis imperfecta, type V
IL7R	Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
INSR	Hyperinsulinemic hypoglycemia, familial, 5 Rabson-Mendenhall syndrome Donohoe syndrome
JAK2	Thrombocythemia 3
KANK1	Cerebral palsy, spastic quadriplegic, 2
KLC2	Spastic paraplegia, optic atrophy, and neuropathy
KMT2A	Wiedemann-Steiner syndrome
KRT9	Palmoplantar keratoderma, epidermolytic Knuckle pads
LAMA1	Poretti-Boltshauser syndrome
LIAS	Pyruvate dehydrogensae lipoic acid synthetase deficiency
LIFR	Stuve-Wiedemann syndrome
LMNB2	Liopdystrophy, partial, acquired Epilepsy, progressive myoclonic, 9
NDUFV2	Mitochondrial complex I deficiency
NEU1	Sialidosis, type I Sialidosis, type II
NHLRC1	Epilepsy, progressive myoclonic 2B (Lafora)
NUP155	Atrial fibrillation 15
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency
PDE6C	Cone dystrophy 4
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
PNPLA2	Neutral lipid storage disease with myopathy
PRKG1	Aortic aneurysm, familial thoracic 8
PRX	Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 4F
SDHA	Paragangliomas 5 Gastrointestinal stromal tumors Cardiomyopathy, dilated, 1GG Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SLC1A1	Dicarboxylic aminoaciduria
SLC25A22	Epileptic encephalopathy, early infantile, 3
SLC6A5	Hyperekplexia 3
SMARCA2	Nicolaides-Baraitser syndrome
SPTA1	Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2
TBXA2R	Bleeding disorder, platelet-type 13, susceptibility to
TEK	Venous malformations, multiple cutaneous and mucosal
TICAM1	Herpes simplex encephalitis, susceptibility to, 4
TNXB	Vesicoureteral reflux 8 Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TOPORS	Retitinis pigmentosa 31
TUBB2B	Polymicrogyria, asymmetric
UQCC2	Mitochondrial complex III deficiency, nuclear type 7
VCP	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Charcot-Marie-Tooth disease type, axonal type, 2Y Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
VLDLR	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1

Genes at HGMD

Summary

Number of Variants: 5917
Number of Genes: 169

Export to: CSV

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ABCA7
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	552217_ngs_ex	19	.	1047003	0.0	A	G	PASS	0/1	86	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552217_ngs_ex	19	.	1047162	0.0	A	G	PASS	0/1	114	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	552217_ngs_ex	19	.	1049270	0.0	G	A	PASS	0/1	66	NON_SYNONYMOUS_CODING	MODERATE	None				0.33	0.15		None None	None None None None	ABCA7\|0.007770288\|82.8%
ABCC8
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	552217_ngs_ex	11	.	17498195	0.0	C	G	sbF	0/1	39	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ABCC8\|0.967482639\|1.79%
ADAMTS16
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	552217_ngs_ex	5	.	5146282	0.0	A	G	PASS	0/1	107	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	552217_ngs_ex	5	.	5146264	0.0	T	C	sbF	0/1	104	NON_SYNONYMOUS_CODING	MODERATE	None				0.07	1.00		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	552217_ngs_ex	5	.	5239889	0.0	C	A	PASS	0/1	78	NON_SYNONYMOUS_CODING	MODERATE	None				0.41	0.06		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
	View	552217_ngs_ex	5	.	5239808	0.0	C	T	PASS	0/1	103	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.79		None None	None None None None	ADAMTS16\|0.017832591\|75.4%
AFG3L2
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	552217_ngs_ex	18	.	12348286	0.0	T	C	PASS	0/1	60	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.94		None None	None None None None	AFG3L2\|0.258891122\|30.83%
	View	552217_ngs_ex	18	.	12351343	0.0	C	T	PASS	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	AFG3L2\|0.258891122\|30.83%
ALDH16A1
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	552217_ngs_ex	19	.	49973614	0.0	C	G	PASS	0/1	80	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ALDH16A1\|0.021103617\|73.62%
ALDH9A1
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	552217_ngs_ex	1	.	165649842	0.0	C	T	sbF	0/1	35	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	ALDH9A1\|0.055569137\|61.04%
ALOXE3
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	552217_ngs_ex	17	.	8012602	0.0	G	A	PASS	0/1	30	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ALOXE3\|0.073088496\|56.77%
ALPL
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	552217_ngs_ex	1	.	21887634	0.0	A	G	PASS	0/1	91	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	ALPL\|0.999977593\|0.11%
AMACR
Omim - GeneCards - NCBI