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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC012123.1, AC139100.2, ADCYAP1, ADNP2, AFG3L2, ALPK2, ANKRD12, ANKRD29, ANKRD30B, ANKRD62, AQP4, ARHGAP28, ASXL3, ATP8B1, ATP9B, BCL2, BOD1L2, C18orf21, C18orf25, C18orf56, C18orf63, C18orf8, CABLES1, CABYR, CBLN2, CCDC102B, CCDC11, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CEP192, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, CTAGE1, CTDP1, CTIF, CXXC1, CYB5A, DCC, DLGAP1, DOK6, DSC1, DSC3, DSEL, DSG3, DSG4, DTNA, DYNAP, EMILIN2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM69C, FECH, FHOD3, GALR1, GAREM, GATA6, GNAL, GREB1L, GRP, HSBP1L1, IMPACT, KATNAL2, KCNG2, KCTD1, KDSR, KIAA1328, KIAA1468, KLHL14, L3MBTL4, LAMA1, LAMA3, LINC00908, LIPG, LOXHD1, MAPK4, MBD1, MBP, MC5R, MEP1B, METTL4, MEX3C, MOCOS, MPPE1, MRO, MYO5B, MYOM1, NDC80, NDUFV2, NEDD4L, NETO1, NFATC1, NOL4, NPC1, PHLPP1, PIEZO2, PIGN, PIK3C3, PMAIP1, POTEC, PPP4R1, PQLC1, PTPRM, RAB27B, RAX, RBBP8, RBFA, RIT2, RNF152, RNF165, RNMT, RP11-17M16.1, RP11-41O4.1, RP11-683L23.1, RP11-861L17.3, RPRD1A, RTTN, SALL3, SEH1L, SERPINB11, SERPINB13, SERPINB5, SERPINB8, SETBP1, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC39A6, SMCHD1, SOGA2, TAF4B, TCEB3B, TCEB3C, TCEB3CL, TCF4, TGIF1, THOC1, TMEM200C, TMEM241, TNFRSF11A, TRAPPC8, TSHZ1, TTC39C, TUBB6, TWSG1, TXNDC2, WDR7, YES1, ZADH2, ZBTB14, ZCCHC2, ZNF236, ZNF24, ZNF397, ZNF407, ZNF516, ZNF519, ZNF532, ZSCAN30,

+ Genes associated with diseases 42

Genes at Omim

AFG3L2, ASXL3, ATP8B1, BCL2, CCDC11, CTDP1, CYB5A, DCC, DSC3, DSG4, DTNA, EPG5, FECH, GATA6, GNAL, GREB1L, KCTD1, KDSR, LAMA1, LAMA3, LOXHD1, MOCOS, MYO5B, NDUFV2, NEDD4L, NPC1, NPC1, PIEZO2, PIGN, RAX, RBBP8, RTTN, SERPINB8, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1, TUBB6,

AFG3L2	Spastic ataxia 5, autosomal recessive, 614487 (3) Spinocerebellar ataxia 28, 610246 (3)
ASXL3	Bainbridge-Ropers syndrome, 615485 (3)
ATP8B1	Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2	Leukemia/lymphoma, B-cell, 2 (3)
CCDC11	Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
CYB5A	Methemoglobinemia and ambiguous genitalia, 250790 (3)
DCC	Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3) Colorectal cancer, somatic, 114500 (3) Esophageal carcinoma, somatic, 133239 (3) Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSC3	?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG4	Hypotrichosis 6, 607903 (3)
DTNA	Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
EPG5	Vici syndrome, 242840 (3)
FECH	Protoporphyria, erythropoietic, 1, 177000 (3)
GATA6	Atrial septal defect 9, 614475 (3) Atrioventricular septal defect 5, 614474 (3) Pancreatic agenesis and congenital heart defects, 600001 (3) Persistent truncus arteriosus, 217095 (3) Tetralogy of Fallot, 187500 (3)
GNAL	Dystonia 25, 615073 (3)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
KCTD1	Scalp-ear-nipple syndrome, 181270 (3)
KDSR	Erythrokeratodermia variabilis et progressiva 4, 617526 (3)
LAMA1	Poretti-Boltshauser syndrome, 615960 (3)
LAMA3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Laryngoonychocutaneous syndrome, 245660 (3)
LOXHD1	Deafness, autosomal recessive 77, 613079 (3)
MOCOS	Xanthinuria, type II, 603592 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
NDUFV2	Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NEDD4L	Periventricular nodular heterotopia 7, 617201 (3)
NPC1	Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3)
NPC1	{Nasopharyngeal carcinoma 1} (2)
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)
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RAX	Microphthalmia, isolated 3, 611038 (3)
RBBP8	Jawad syndrome, 251255 (3) Pancreatic carcinoma, somatic (3) Seckel syndrome 2, 606744 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB8	Peeling skin syndrome 5, 617115 (3)
SETBP1	Mental retardation, autosomal dominant 29, 616078 (3) Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1	[Blood group, Kidd], 111000 (3)
SMCHD1	Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3) Bosma arhinia microphthalmia syndrome, 603457 (3)
TAF4B	?Spermatogenic failure 13, 615841 (3)
TCF4	Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) Pitt-Hopkins syndrome, 610954 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
TNFRSF11A	{Paget disease of bone 2, early-onset}, 602080 (3) Osteolysis, familial expansile, 174810 (3) Osteopetrosis, autosomal recessive 7, 612301 (3)
TSHZ1	Aural atresia, congenital, 607842 (3)
TUBB6	?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)

Genes at Clinical Genomics Database

AFG3L2, ASXL3, ATP8B1, CTDP1, CYB5A, DCC, DSC3, DSG4, DTNA, EPG5, FECH, GATA6, GNAL, LAMA1, LAMA3, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RBBP8, RTTN, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1,

AFG3L2	Spinocerebellar ataxia 28 Spastic ataxia 5, autosomal recessive
ASXL3	Bainbridge-Ropers syndrome
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy
CYB5A	46, XY disorder of sex development Methemoglobinemia, type IV
DCC	Mirror movements 1
DSC3	Hypotrichosis and recurrent skin vesicles
DSG4	Hypotrichosis 6
DTNA	Left ventricular noncompaction 1
EPG5	Vici syndrome
FECH	Protoporphyria, erythropoietic
GATA6	Heart defects, congenital, and other congenital anomalies
GNAL	Primary torsion dystonia
LAMA1	Poretti-Boltshauser syndrome
LAMA3	Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign
LOXHD1	Deafness, autosomal recessive 77
MYO5B	Diarrhea 2, with microvillus atrophy
NDUFV2	Mitochondrial complex I deficiency
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1
RAX	Microphthalmia, isolated 3
RBBP8	Seckel syndrome 2 Jawad syndrome
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
SETBP1	Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome
SLC14A1	Blood group, Kidd
SMCHD1	Facioscapulohumeral muscular dystrophy, type 2
TAF4B	Spermatogenic failure 13
TCF4	Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome
TGIF1	Holoprosencephaly 4
TNFRSF11A	Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7
TSHZ1	Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 3109
Number of Genes: 171

Export to: CSV

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AC012123.1
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	18	rs200605696 dbSNP Clinvar	30352057	4598.56	GC...	G	PASS	0/1	125	FRAME_SHIFT	HIGH	None							None None	None None None None	KLHL14\|0.473561671\|17.04%
AC139100.2
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	18	.	77926707	1240.73	G	A	PASS	0/1	109	NON_SYNONYMOUS_CODING	MODERATE	None					0.21		None None	None None None None	PARD6G\|0.055173198\|61.15%
ADCYAP1
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	18	rs2231187 dbSNP Clinvar	909561	1925.69	A	G	PASS	0/1	157	SYNONYMOUS_CODING	LOW	None	0.20248	0.20250	0.25727				None None	None None None None	ADCYAP1\|0.147854671\|43.32%
	View	combined sample_41.variant5	18	rs8192597 dbSNP Clinvar	907675	1069.05	G	A	PASS	1/1	172	SYNONYMOUS_CODING	LOW	None	0.70208	0.70210	0.34802				None None	None None None None	ADCYAP1\|0.147854671\|43.32%
ADNP2
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	18	rs3744877 dbSNP Clinvar	77894844	5227.48	G	A	PASS	1/1	163	SYNONYMOUS_CODING	LOW	None	0.41873	0.41870	0.38413				None None	None None None None	ADNP2\|0.014262869\|77.65%
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	combined sample_41.variant5	18	rs11553521 dbSNP Clinvar	12348285	2969.61	T	C	PASS	0/1	112	SYNONYMOUS_CODING	LOW	None	0.70986	0.70990	0.22074				None None	None None None None	AFG3L2\|0.258891122\|30.83%
	View	combined sample_41.variant5	18	rs11080572 dbSNP Clinvar	12351342	2611.18	C	T	PASS	0/1	76	SYNONYMOUS_CODING	LOW	None	0.62320	0.62320	0.31386				None None	None None None None	AFG3L2\|0.258891122\|30.83%
ALPK2
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	18	rs12103986 dbSNP Clinvar	56205262	5811.36	A	C	PASS	0/1	147	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.40440	0.49408	0.76	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs9958735 dbSNP Clinvar	56247180	2422.69	T	C	PASS	0/1	158	SYNONYMOUS_CODING	LOW	None	0.51018	0.51020	0.47932				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809980 dbSNP Clinvar	56203411	4051.74	G	C	PASS	0/1	133	SYNONYMOUS_CODING	LOW	None	0.67153	0.67150	0.31678				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809979 dbSNP Clinvar	56203447	4517.5	A	G	PASS	0/1	164	SYNONYMOUS_CODING	LOW	None	0.67173	0.67170	0.31678				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs67925233 dbSNP Clinvar	56204387	6925.51	AC...	A	PASS	0/1	131	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.40196	0.40200					None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809976 dbSNP Clinvar	56204250	6213.29	A	C	PASS	0/1	201	NON_SYNONYMOUS_CODING	MODERATE	None	0.67213	0.67210	0.31678	0.53	0.08		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs12606191 dbSNP Clinvar	56246442	4072.84	T	C	PASS	0/1	308	SYNONYMOUS_CODING	LOW	None	0.37340	0.37340	0.29586				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809977 dbSNP Clinvar	56203898	4596.08	T	G	PASS	0/1	143	NON_SYNONYMOUS_CODING	MODERATE	None	0.67173	0.67170	0.31747	0.05	0.40		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809972 dbSNP Clinvar	56204945	3616.46	C	G	PASS	0/1	130	NON_SYNONYMOUS_CODING	MODERATE	None	0.40415	0.40420	0.49462	0.34	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809970 dbSNP Clinvar	56204991	3953.81	C	T	PASS	0/1	170	NON_SYNONYMOUS_CODING	MODERATE	None	0.40355	0.40360	0.49462	0.10	0.09		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809983 dbSNP Clinvar	56202768	6143.76	C	A	PASS	0/1	151	NON_SYNONYMOUS_CODING	MODERATE	None	0.33147	0.33150	0.41027	0.13	0.06		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs7240666 dbSNP Clinvar	56149099	5580.56	T	C	PASS	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None	0.92153	0.92150	0.16754	1.00	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs6566987 dbSNP Clinvar	56279025	559.57	T	G	PASS	1/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.94070	0.94070	0.15807	1.00	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs33969768 dbSNP Clinvar	56191053	1362.5	G	A	PASS	0/1	110	NON_SYNONYMOUS_CODING	MODERATE	None	0.01577	0.01577	0.03914	0.03	0.68		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_41.variant5	18	rs3809978 dbSNP Clinvar	56203891	4697.05	G	T	PASS	0/1	143	SYNONYMOUS_CODING	LOW	None	0.67173	0.67170	0.31708				None None	None None None None	ALPK2\|0.002935349\|88.74%