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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
A4GALT, AC002472.13, AC006547.14, AC006946.15, AC008132.13, ACO2, ACR, ADM2, ADORA2A, AIFM3, ALG12, AP1B1, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP6V1E1, BAIAP2L2, BCL2L13, BCR, BID, BPIFC, C1QTNF6, C22orf23, C22orf26, C22orf29, C22orf31, C22orf34, C22orf42, C22orf46, CABIN1, CARD10, CBY1, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR2, CECR5, CECR6, CELSR1, CENPM, CERK, CHCHD10, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CRYBB2, CRYBB3, CTA-299D3.8, CYB5R3, CYP2D6, CYP2D7P, DENND6B, DEPDC5, DGCR14, DGCR2, DGCR6, DGCR6L, DNAJB7, DNAL4, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, EP300, FAM109B, FAM118A, FAM19A5, FAM230A, FAM83F, FBLN1, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GATSL3, GCAT, GGT1, GGT2, GGTLC2, GRAMD4, GSC2, GSTT2, GTSE1, HDAC10, HIC2, HMGXB4, HPS4, IGLC3, IGLJ2, IGLJ3, IGLJ5, IGLJ7, IGLV1-36, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV2-14, IGLV2-18, IGLV2-23, IGLV3-1, IGLV3-12, IGLV3-16, IGLV3-21, IGLV3-22, IGLV3-25, IGLV4-60, IGLV5-37, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, KCNJ4, KCTD17, KDELR3, KIAA1644, KIAA1671, KLHDC7B, KREMEN1, L3MBTL2, LARGE, LIMK2, LL22NC03-75H12.2, LMF2, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MED15, MEI1, MICAL3, MICALL1, MIOX, MMP11, MOV10L1, MPPED1, MTFP1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, NFAM1, NPTXR, ODF3B, OR11H1, OSBP2, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PES1, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLXNB2, PNPLA3, PNPLA5, POLDIP3, POTEH, PPIL2, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RBFOX2, RFPL1, RFPL2, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RPL3, RRP7A, RTCB, RTDR1, SAMM50, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SELO, SEZ6L, SF3A1, SFI1, SH3BP1, SHANK3, SLC16A8, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SREBF2, SRRD, SUN2, SUSD2, SYNGR1, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TEF, TFIP11, THAP7, THOC5, TIMP3, TMEM184B, TMPRSS6, TNFRSF13C, TOM1, TPST2, TRIOBP, TSPO, TSSK2, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, USP18, USP41, VPREB1, WBP2NL, XKR3, ZBED4, ZC3H7B, ZNF280A, ZNF280B, ZNF70, ZNRF3,

+ Genes associated with diseases 56

Genes at Omim

A4GALT, ACO2, ACR, ALG12, APOL1, APOL2, APOL4, ARSA, ATP6V1E1, BCR, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, GGT1, GGT2, HPS4, IL17RA, KCTD17, KREMEN1, LARGE, LZTR1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PRODH, SCARF2, SCO2, SHANK3, SLC5A1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TNFRSF13C, TRIOBP, TUBA8, TUBGCP6, TXNRD2, TYMP, UPB1, USP18,

A4GALT	NOR polyagglutination syndrome, 111400 (3) [Blood group, P1Pk system, P(2) phenotype], 111400 (3) [Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2	Infantile cerebellar-retinal degeneration, 614559 (3) ?Optic atrophy 9, 616289 (3)
ACR	?Male infertility due to acrosin deficiency (2)
ALG12	Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2	{Schizophrenia}, 181500 (1)
APOL4	{Schizophrenia}, 181500 (1)
ARSA	Metachromatic leukodystrophy, 250100 (3)
ATP6V1E1	Cutis laxa, autosomal recessive, type IIC, 617402 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3) ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3) Spinal muscular atrophy, Jokela type, 615048 (3)
COMT	{Panic disorder, susceptibility to}, 167870 (3) {Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4	Cataract 23, 610425 (3)
CRYBB2	Cataract 3, multiple types, 601547 (3)
CRYBB3	Cataract 22, 609741 (3)
CYB5R3	Methemoglobinemia, type I, 250800 (3) Methemoglobinemia, type II, 250800 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
DEPDC5	Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGCR2	DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
DNAL4	?Mirror movements 3, 616059 (3)
EP300	Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
GGT1	?Glutathioninuria, 231950 (3)
GGT2	[Gamma-glutamyltransferase, familial high serum] (2)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA	Immunodeficiency 51, 613953 (3)
KCTD17	Dystonia 26, myoclonic, 616398 (3)
KREMEN1	Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LZTR1	{Schwannomatosis-2, susceptibility to}, 615670 (3) Noonan syndrome 10, 616564 (3) Noonan syndrome 2, 605275 (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA	Kanzaki disease, 609242 (3) Schindler disease, type I, 609241 (3) Schindler disease, type III, 609241 (3)
NCF4	?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDUFA6	Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PRODH	Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) Myopia 6, 608908 (3)
SHANK3	{Schizophrenia 15}, 613950 (3) Phelan-McDermid syndrome, 606232 (3)
SLC5A1	Glucose/galactose malabsorption, 606824 (3)
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10	PCWH syndrome, 609136 (3) Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3) Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L	Hypertelorism, Teebi type, 145420 (3) ?Facial clefting, oblique, 1, 600251 (3) Opitz GBBB syndrome, type II, 145410 (3)
TBX1	Conotruncal anomaly face syndrome, 217095 (3) DiGeorge syndrome, 188400 (3) Tetralogy of Fallot, 187500 (3) Velocardiofacial syndrome, 192430 (3)
TCN2	Transcobalamin II deficiency, 275350 (3)
TIMP3	Sorsby fundus dystrophy, 136900 (3)
TMPRSS6	Iron-refractory iron deficiency anemia, 206200 (3)
TNFRSF13C	Immunodeficiency, common variable, 4, 613494 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TUBA8	Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2	?Glucocorticoid deficiency 5, 617825 (3)
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UPB1	Beta-ureidopropionase deficiency, 613161 (3)
USP18	Pseudo-TORCH syndrome 2, 617397 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ARSA, BCR, CECR1, CHCHD10, COMT, CRYBA4, CRYBB2, CRYBB3, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MYH9, MYO18B, NAGA, NCF4, NEFH, PRODH, SCARF2, SCO2, SHANK3, SLC5A1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TNFRSF13C, TRIOBP, TUBA8, TUBGCP6, TYMP, UPB1, UPK3A,

A4GALT	Blood group, P system
ACO2	Infantile cerebellar-retinal degeneration Optic atrophy 9
ALG12	Congenital disorder of glycosylation, type Ig
ARSA	Metachromatic leukodystrophy
BCR	CML treatment, response to
CECR1	Polyarteritis nodosa, childhood-onset (ADA2 deficiency) Sneddon syndrome
CHCHD10	Myopathy, isolated mitochondrial, autosomal dominant
COMT	Medication response, association with
CRYBA4	Cataract 23
CRYBB2	Cataract, sutural, with punctate and cerulean opacities Cataract, Coppock-like Cataract, congenital, cerulean type, 2
CRYBB3	Cataract, congenital nuclear, autosomal recessive, 2
CYB5R3	Methemoglobinemia due to methemoglobin reductase deficiency
CYP2D6	Drug metabolism, CYP2CD6-related
DEPDC5	Epilepsy, familial focal, with variable foci
DGCR2	Schizophrenia
DNAL4	Mirror movements 3
EP300	Rubinstein-Taybi syndrome 2
FBLN1	Synpolydactyly 2
HPS4	Hermansky-Pudlak syndrome 4
IL17RA	Candiasis, familial, 5
KCTD17	Dystonia 26, myoclonic
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1	Schwannomatosis 2 Noonan syndrome 10
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA	Kanzaki disease Alpha-n-acetylgalactosaminidase deficiency Schindler disease type I Schindler disease type III
NCF4	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PRODH	Hyperprolinemia, type I
SCARF2	Van den Ende-Gupta syndrome
SCO2	Myopia 6 Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Hypertrophic cardiomyopathy
SHANK3	Phelan-McDermid syndrome Schizophrenia
SLC5A1	Glucose/galactose malabsorption
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10	Waardenburg syndrome, type 4C Waardenburg syndrome, type 2E Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Hirschsprung disease, susceptibility to, 10
SPECC1L	Facial clefting, oblique, 1 Opitz GBBB syndrome, type II
TBX1	Conotruncal anomaly face syndrome Tetralogy of Fallot
TCN2	Transcobalamin II deficiency
TIMP3	Sorsby fundus dystrophy
TMPRSS6	Iron-refractory iron deficiency anemia
TNFRSF13C	Immunodeficiency, common variable 4
TRIOBP	Deafness, autosomal recessive 28
TUBA8	Polymicrogyria with optic nerve hypoplasia
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1	Beta-ureidopropionase deficiency
UPK3A	Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 4065
Number of Genes: 281

Export to: CSV

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A4GALT
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	combined sample_41.variant5	22	rs9623659 dbSNP Clinvar	43088971	5649.74	C	T	PASS	0/1	192	SYNONYMOUS_CODING	LOW	None	0.34904	0.34900	0.40420				None None	None None None None	A4GALT\|0.02220674\|73.08%
	View	combined sample_41.variant5	22	rs11541159 dbSNP Clinvar	43089849	9118.6	T	C	PASS	0/1	330	NON_SYNONYMOUS_CODING	MODERATE	None	0.35064	0.35060	0.40440	0.26	0.00		None None	None None None None	A4GALT\|0.02220674\|73.08%
	View	combined sample_41.variant5	22	rs6002904 dbSNP Clinvar	43089055	2572.37	G	C	PASS	0/1	203	SYNONYMOUS_CODING	LOW	None	0.69529	0.69530	0.34674				None None	None None None None	A4GALT\|0.02220674\|73.08%
AC002472.13
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	combined sample_41.variant5	22	rs28504593 dbSNP Clinvar	21403375	224.22	C	A	PASS	0/1	74	NON_SYNONYMOUS_CODING	MODERATE	None	0.18311	0.18310		0.00	0.88		None None	None None None None	None
	View	combined sample_41.variant5	22	rs28450680 dbSNP Clinvar	21403376	224.22	C	T	PASS	0/1	75	SYNONYMOUS_CODING	LOW	None	0.18311	0.18310					None None	None None None None	None
AC006547.14
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	combined sample_41.variant5	22	rs139050179 dbSNP Clinvar	20137723	2032.0	C	T	PASS	0/1	181	SYNONYMOUS_CODING	LOW	None	0.22963	0.22960					None None	None None None None	None
	View	combined sample_41.variant5	22	rs73391926 dbSNP Clinvar	20138105	1529.29	T	C	PASS	0/1	122	SYNONYMOUS_CODING	LOW	None	0.46985	0.46980					None None	None None None None	None
AC006946.15
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	combined sample_41.variant5	22	rs5992629 dbSNP Clinvar	17602839	1708.17	G	A	PASS	0/1	84	SYNONYMOUS_CODING	LOW	None	0.87820	0.87820					None None	None None None None	None
	View	combined sample_41.variant5	22	rs5748871 dbSNP Clinvar	17603477	1942.46	A	G	PASS	0/1	54	None	None	None	0.44828	0.44830			0.00		None None	None None None None	None
AC008132.13
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	combined sample_41.variant5	22	rs62231277 dbSNP Clinvar	18835365	1985.47	T	G	PASS	0/1	99	SYNONYMOUS_CODING	LOW	None	0.77496	0.77500					None None	None None None None	None
	View	combined sample_41.variant5	22	rs62231276 dbSNP Clinvar	18835221	74.79	A	G	PASS	0/1	177	SYNONYMOUS_CODING	LOW	None	0.89397	0.89400					None None	None None None None	None
ACO2
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	combined sample_41.variant5	22	rs137831 dbSNP Clinvar	41903813	1884.05	A	C	PASS	1/1	104	SYNONYMOUS_CODING	LOW	None	0.41833	0.41830	0.25796				None None	None None None None	ACO2\|0.657906877\|9.8%
ACR
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	combined sample_41.variant5	22	rs5771002 dbSNP Clinvar	51183255	595.6	A	G	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.72584	0.72580		0.57	0.02		None None	None None None None	ACR\|0.009551139\|81.19%
ADM2
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	combined sample_41.variant5	22	rs2236031 dbSNP Clinvar	50921694	2196.8	C	T	PASS	0/1	173	SYNONYMOUS_CODING	LOW	None	0.22544	0.22540					None None	None None None None	ADM2\|0.006259599\|84.34%
ADORA2A
Omim - GeneCards - NCBI