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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC012123.1, AC139100.2, ADCYAP1, ADNP2, AFG3L2, ALPK2, ANKRD12, ANKRD30B, ANKRD62, AP005482.1, APCDD1, ARHGAP28, ATP5A1, ATP8B1, ATP9B, BCL2, BOD1L2, C18orf25, C18orf63, C18orf8, CABLES1, CABYR, CBLN2, CCDC102B, CCDC11, CCDC178, CD226, CDH19, CDH2, CDH20, CDH7, CEP192, CIDEA, CNDP1, CNDP2, COLEC12, CTAGE1, CTDP1, CTIF, CXXC1, DCC, DOK6, DSC1, DSC3, DSEL, DSG1, DSG2, DSG3, DSG4, DYNAP, ELP2, ENOSF1, EPB41L3, EPG5, ESCO1, FAM210A, FAM69C, FBXO15, FECH, FHOD3, GALR1, GAREM, GREB1L, GRP, HMSD, IMPACT, KATNAL2, KCNG2, KCTD1, KDSR, KIAA1328, L3MBTL4, LAMA1, LAMA3, LDLRAD4, LINC00908, LMAN1, LOXHD1, LPIN2, MAPK4, MBD1, MBP, MC5R, MEP1B, METTL4, MEX3C, MOCOS, MPPE1, MRO, MYO5B, MYOM1, NARS, NDC80, NDUFV2, NETO1, NFATC1, NPC1, PHLPP1, PIEZO2, PIGN, PMAIP1, POLI, POTEC, PQLC1, PSMG2, PTPRM, RIT2, RNF165, RP11-17M16.1, RP11-595B24.2, RP11-683L23.1, RP11-861L17.3, RPRD1A, RTTN, SALL3, SEH1L, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC39A6, SMCHD1, SOCS6, SOGA2, ST8SIA3, TAF4B, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2, TCF4, TGIF1, THOC1, TMEM200C, TMEM241, TMX3, TNFRSF11A, TRAPPC8, TSHZ1, TTC39C, TTR, TUBB6, TWSG1, TXNDC2, USP14, VAPA, WDR7, YES1, ZADH2, ZBTB14, ZBTB7C, ZCCHC2, ZNF236, ZNF24, ZNF397, ZNF407, ZNF516, ZNF519, ZNF532,

+ Genes associated with diseases 43

Genes at Omim

AFG3L2, APCDD1, ATP5A1, ATP8B1, BCL2, CCDC11, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, ELP2, EPG5, FECH, GREB1L, KCTD1, KDSR, LAMA1, LAMA3, LMAN1, LOXHD1, LPIN2, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, PIGN, RTTN, SERPINB7, SERPINB8, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1, TTR, TUBB6,

AFG3L2	Spastic ataxia 5, autosomal recessive, 614487 (3) Spinocerebellar ataxia 28, 610246 (3)
APCDD1	Hypotrichosis 1, 605389 (3)
ATP5A1	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3) ?Combined oxidative phosphorylation deficiency 22, 616045 (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)
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)
DSG1	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2	Arrhythmogenic right ventricular dysplasia 10, 610193 (3) Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4	Hypotrichosis 6, 607903 (3)
ELP2	Mental retardation, autosomal recessive 58, 617270 (3)
EPG5	Vici syndrome, 242840 (3)
FECH	Protoporphyria, erythropoietic, 1, 177000 (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)
LMAN1	Combined factor V and VIII deficiency, 227300 (3)
LOXHD1	Deafness, autosomal recessive 77, 613079 (3)
LPIN2	Majeed syndrome, 609628 (3)
MOCOS	Xanthinuria, type II, 603592 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
NDUFV2	Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NPC1	{Nasopharyngeal carcinoma 1} (2)
NPC1	Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (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)
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB7	Palmoplantar keratoderma, Nagashima type, 615598 (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)
TTR	Amyloidosis, hereditary, transthyretin-related, 105210 (3) Carpal tunnel syndrome, familial, 115430 (3) [Dystransthyretinemic hyperthyroxinemia], 145680 (3)
TUBB6	?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)

Genes at Clinical Genomics Database

AFG3L2, APCDD1, ATP5A1, ATP8B1, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, LAMA1, LAMA3, LMAN1, LOXHD1, LPIN2, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RTTN, SERPINB7, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1, TTR,

AFG3L2	Spinocerebellar ataxia 28 Spastic ataxia 5, autosomal recessive
APCDD1	Hypotrichosis 1
ATP5A1	Combined oxidative phosphorylation deficiency 22 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy
DCC	Mirror movements 1
DSC3	Hypotrichosis and recurrent skin vesicles
DSG1	Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2	Cardiomyopathy, dilated, 1BB Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4	Hypotrichosis 6
EPG5	Vici syndrome
FECH	Protoporphyria, erythropoietic
LAMA1	Poretti-Boltshauser syndrome
LAMA3	Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign
LMAN1	Combined factor V and VIII deficiency
LOXHD1	Deafness, autosomal recessive 77
LPIN2	Majeed syndrome
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
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
SERPINB7	Palmoplantar keratoderma, Nagashima type
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
TTR	Amyloidosis, hereditary, transthyretin-related Dystransthyretinemic hyperthyroxinemia

Genes at HGMD

Summary

Number of Variants: 2656
Number of Genes: 171

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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	mm171122md	18	rs71366355 dbSNP Clinvar	30352114	1516.77	C	G	.	0/1	74	SYNONYMOUS_CODING	LOW	None	0.20587	0.20590					None None	None None None None	KLHL14\|0.473561671\|17.04%
	View	mm171122md	18	rs200605696 dbSNP Clinvar	30352057	3074.73	GC...	G	.	0/1	63	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	mm171122md	18	rs71338092,rs11275834 dbSNP Clinvar	77926795	3344.73	T	TA...	.	0/1	72	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None	0.21625	0.21630					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	mm171122md	18	rs8192597 dbSNP Clinvar	907675	2873.77	G	A	.	1/1	91	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	mm171122md	18	rs3744877 dbSNP Clinvar	77894844	1739.77	G	A	.	0/1	122	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	mm171122md	18	rs11553521 dbSNP Clinvar	12348285	701.77	T	C	.	0/1	64	SYNONYMOUS_CODING	LOW	None	0.70986	0.70990	0.22074				None None	None None None None	AFG3L2\|0.258891122\|30.83%
	View	mm171122md	18	rs11080572 dbSNP Clinvar	12351342	863.77	C	T	.	0/1	68	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	mm171122md	18	rs3826593 dbSNP Clinvar	56204747	1722.77	G	A	.	1/1	49	NON_SYNONYMOUS_CODING	MODERATE	None	0.79852	0.79850	0.15624	0.97	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs3809981 dbSNP Clinvar	56203120	2690.77	C	T	.	1/1	77	SYNONYMOUS_CODING	LOW	None	0.32987	0.32990	0.40866				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs56145533 dbSNP Clinvar	56203136	660.77	T	C	.	0/1	81	NON_SYNONYMOUS_CODING	MODERATE	None	0.01018	0.01018	0.01715	0.30	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs3809980 dbSNP Clinvar	56203411	1977.77	G	C	.	1/1	58	SYNONYMOUS_CODING	LOW	None	0.67153	0.67150	0.31678				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs3809979 dbSNP Clinvar	56203447	2394.77	A	G	.	1/1	67	SYNONYMOUS_CODING	LOW	None	0.67173	0.67170	0.31678				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs3809978 dbSNP Clinvar	56203891	3051.77	G	T	.	1/1	90	SYNONYMOUS_CODING	LOW	None	0.67173	0.67170	0.31708				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs3809977 dbSNP Clinvar	56203898	3186.77	T	G	.	1/1	90	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	mm171122md	18	rs3809976 dbSNP Clinvar	56204250	3810.77	A	C	.	1/1	115	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	mm171122md	18	rs67925233 dbSNP Clinvar	56204387	8706.73	AC...	A	.	1/1	76	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.40196	0.40200					None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs55910046 dbSNP Clinvar	56204410	2235.77	C	T	.	1/1	62	SYNONYMOUS_CODING	LOW	None	0.40435	0.40440	0.43487				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs4940404 dbSNP Clinvar	56204671	1761.77	A	T	.	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.40415	0.40420	0.49439	0.12	0.20		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs3809973 dbSNP Clinvar	56204932	2621.77	T	G	.	1/1	72	NON_SYNONYMOUS_CODING	MODERATE	None	0.40435	0.40440	0.49470	0.02	0.52		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs3809972 dbSNP Clinvar	56204945	2953.77	C	G	.	1/1	82	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	mm171122md	18	rs3809971 dbSNP Clinvar	56204977	3437.77	C	T	.	1/1	98	SYNONYMOUS_CODING	LOW	None	0.40415	0.40420	0.49470				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	mm171122md	18	rs7236563 dbSNP Clinvar	56196451	2084.77	C	T	.	1/1	62	SYNONYMOUS_CODING	LOW	None	0.37300	0.37300	0.47617				None None	None None None None	ALPK2\|0.002935349\|88.74%