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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCC4, ADPRHL1, AKAP11, AL136218.1, AL355390.1, AL445989.1, ARHGEF7, ARL11, ATP11A, ATP4B, ATP7B, ATP8A2, B3GALTL, BRCA2, C1QTNF9, C1QTNF9B, CARS2, CCDC122, CCDC168, CCDC70, CDADC1, CDX2, CENPJ, CKAP2, CLN5, CLYBL, COG3, COG6, COL4A1, COL4A2, CPB2, CRYL1, CSNK1A1L, CUL4A, DACH1, DAOA, DCLK1, DCT, DCUN1D2, DGKH, DHRS12, DIAPH3, DIS3, DOCK9, DZIP1, EBPL, EDNRB, EFNB2, ELF1, ENOX1, EPSTI1, ERCC5, EXOSC8, F10, F7, FAM194B, FARP1, FGF9, FLT1, FLT3, FREM2, FRY, GAS6, GJA3, GPR18, GRK1, GRTP1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HTR2A, IFT88, ING1, IRS2, ITGBL1, KBTBD6, KBTBD7, KDELC1, KL, KPNA3, LACC1, LAMP1, LATS2, LCP1, LIG4, LINC00346, LMO7, LNX2, LRCH1, MCF2L, MEDAG, METTL21C, MICU2, MIPEP, MTIF3, MTMR6, MTUS2, MYCBP2, MYO16, MZT1, NAA16, NALCN, NEK3, NUFIP1, NUPL1, OLFM4, PABPC3, PARP4, PCDH20, PCDH8, PCDH9, PDS5B, PHF11, PROZ, PSPC1, RAB20, RASA3, RBM26, RCBTB1, RNF113B, RNF17, RNF6, RXFP2, SACS, SCEL, SETDB2, SGCG, SHISA2, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC7A1, SLITRK6, SOX1, SOX21, SPACA7, SPATA13, SPERT, SPRY2, STARD13, STK24, SUCLA2, SUPT20H, TBC1D4, TDRD3, TEX26, TEX29, THSD1, TMCO3, TMTC4, TNFRSF19, TNFSF11, TPP2, TPTE2, TRPC4, TUBA3C, UCHL3, UFM1, UGGT2, URAD, USPL1, UTP14C, WASF3, XPO4, ZAR1L, ZC3H13, ZDHHC20, ZIC2, ZIC5, ZMYM5,

+ Genes associated with diseases 42

Genes at Omim

ATP7B, ATP8A2, BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, DAOA, DIAPH3, EDNRB, ERCC5, EXOSC8, F10, F7, FGF9, FLT3, FREM2, GJA3, GRK1, HTR2A, ING1, IRS2, KL, LIG4, MIPEP, NALCN, PROZ, RCBTB1, RNF6, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPRY2, SUCLA2, TBC1D4, TNFSF11, UFM1, ZIC2,

ATP7B	Wilson disease, 277900 (3)
ATP8A2	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
BRCA2	Fanconi anemia, complementation group D1, 605724 (3) {Glioblastoma 3}, 613029 (3) {Medulloblastoma}, 155255 (3) {Pancreatic cancer 2}, 613347 (3) {Prostate cancer}, 176807 (3) Wilms tumor, 194070 (3) {Breast cancer, male, susceptibility to}, 114480 (3) {Breast-ovarian cancer, familial, 2}, 612555 (3)
CARS2	Combined oxidative phosphorylation deficiency 27, 616672 (3)
CENPJ	Microcephaly 6, primary, autosomal recessive, 608393 (3) ?Seckel syndrome 4, 613676 (3)
CLN5	Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COG6	Congenital disorder of glycosylation, type IIl, 614576 (3) Shaheen syndrome, 615328 (3)
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
DAOA	{Schizophrenia}, 181500 (2)
DIAPH3	Auditory neuropathy, autosomal dominant, 1, 609129 (3)
EDNRB	{Hirschsprung disease, susceptibility to, 2}, 600155 (3) ABCD syndrome, 600501 (3) Waardenburg syndrome, type 4A, 277580 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXOSC8	Pontocerebellar hypoplasia, type 1C, 616081 (3)
F10	Factor X deficiency, 227600 (3)
F7	Factor VII deficiency, 227500 (3) {Myocardial infarction, decreased susceptibility to}, 608446 (3)
FGF9	Multiple synostoses syndrome 3, 612961 (3)
FLT3	Leukemia, acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3) Leukemia, acute myeloid, somatic, 601626 (3)
FREM2	Fraser syndrome 2, 617666 (3)
GJA3	Cataract 14, multiple types, 601885 (3)
GRK1	Oguchi disease-2, 613411 (3)
HTR2A	{Major depressive disorder, response to citalopram therapy in}, 608516 (3) {Obsessive-compulsive disorder, susceptibility to}, 164230 (3) {Schizophrenia, susceptibility to}, 181500 (3) {Seasonal affective disorder, susceptibility to}, 608516 (3) {Alcohol dependence, susceptibility to}, 103780 (3) {Anorexia nervosa, susceptibility to}, 606788 (3)
ING1	Squamous cell carcinoma, head and neck, somatic, 275355 (3)
IRS2	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KL	?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
LIG4	{Multiple myeloma, resistance to}, 254500 (3) LIG4 syndrome, 606593 (3)
MIPEP	Combined oxidative phosphorylation deficiency 31, 617228 (3)
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3) Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
PROZ	[Protein Z deficiency], 614024 (3)
RCBTB1	Retinal dystrophy with or without extraocular anomalies, 617175 (3)
RNF6	Esophageal carcinoma, somatic, 133239 (3)
SACS	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SGCG	Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC10A2	Bile acid malabsorption, primary, 613291 (3)
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLITRK6	Deafness and myopia, 221200 (3)
SPRY2	{?IgA nephropathy, susceptibility to, 3}, 616818 (3)
SUCLA2	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)
TBC1D4	{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
TNFSF11	Osteopetrosis, autosomal recessive 2, 259710 (3)
UFM1	Leukodystrophy, hypomyelinating, 14, 617899 (3)
ZIC2	Holoprosencephaly 5, 609637 (3)

Genes at Clinical Genomics Database

ATP7B, BRCA2, CARS2, CENPJ, CLN5, COG6, COL4A1, COL4A2, EDNRB, ERCC5, EXOSC8, F10, F7, FGF9, FREM2, GJA3, GRK1, HTR2A, IFT88, KL, LIG4, NALCN, PROZ, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPRY2, SUCLA2, TBC1D4, TNFSF11, ZIC2,

ATP7B	Wilson disease
BRCA2	Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma
CARS2	Combined oxidative phosphorylation deficiency 27
CENPJ	Seckel syndrome 4 Microcephaly, primary autosomal recessive, 6
CLN5	Ceroid lipofuscinosis, neuronal, 5
COG6	Congenital disorder of glycosylation, type Iil
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly
COL4A2	Hemorrhage, intracerebral, susceptibility to
EDNRB	Waardenburg syndrome type 4A ABCD syndrome Hirschsprung disease, susceptibility to, 2
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
EXOSC8	Pontocerebellar hypoplasia, type 1C
F10	Factor X deficiency
F7	Factor VII deficiency
FGF9	Multiple synostoses syndrome 3
FREM2	Fraser syndrome
GJA3	Cataract 14, multiple types
GRK1	Oguchi disease 2
HTR2A	Major depressive disorder, response to citalopram therapy in Clozapine, response to
IFT88	Ciliopathy, IFT88-related
KL	Tumoral calcinosis, hyperphosphatemic
LIG4	LIG4 syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
PROZ	Protein Z deficiency
RXFP2	Cryptorchidism
SACS	Spastic ataxia, Charlevoix-Saguenay type
SGCG	Muscular dystrophy, limb-girdle, type 2C
SLC10A2	Bile acid malabsorption, primary
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLITRK6	Deafness and myopia
SPRY2	IgA nephropathy, susceptibility to, 3
SUCLA2	Mitochondrial DNA depletion syndrome 5
TBC1D4	Diabetes mellitus, noninsulin-dependent 5
TNFSF11	Osteopetrosis, autosomal recessive 2
ZIC2	Holoprosencephaly 5

Genes at HGMD

Summary

Number of Variants: 2964
Number of Genes: 174

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ABCC4
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_93.variant38	13	rs1751034 dbSNP Clinvar	95714976	462.22	C	T	PASS	1/1	23	SYNONYMOUS_CODING	LOW	None	0.79433	0.79430	0.20345				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	combined sample_93.variant38	13	rs1189466 dbSNP Clinvar	95726541	2136.0	A	G	PASS	1/1	116	SYNONYMOUS_CODING	LOW	None	0.90355	0.90360	0.05467				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	combined sample_93.variant38	13	rs1678339 dbSNP Clinvar	95727780	1394.06	T	C	PASS	1/1	32	SYNONYMOUS_CODING	LOW	None	0.88778	0.88780	0.07420				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	combined sample_93.variant38	13	rs2274405 dbSNP Clinvar	95858978	1262.98	T	C	PASS	0/1	107	SYNONYMOUS_CODING	LOW	None	0.62600	0.62600	0.33592				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	combined sample_93.variant38	13	rs2274406 dbSNP Clinvar	95858996	1066.44	T	C	PASS	0/1	103	SYNONYMOUS_CODING	LOW	None	0.51817	0.51820	0.43911				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	combined sample_93.variant38	13	rs899494 dbSNP Clinvar	95861804	720.26	A	G	PASS	1/1	61	SYNONYMOUS_CODING	LOW	None	0.80751	0.80750	0.16977				None None	None None None None	ABCC4\|0.142494523\|44.07%
ADPRHL1
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_93.variant38	13	rs139075628 dbSNP Clinvar	114088074	141.94	G	A	PASS	0/1	23	NON_SYNONYMOUS_CODING	MODERATE	None	0.01378	0.01378	0.01818	0.00	0.98		None None	None None None None	ADPRHL1\|0.030161961\|69.33%
AKAP11
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_93.variant38	13	rs41288311 dbSNP Clinvar	42876290	911.62	A	C	PASS	0/1	90	SYNONYMOUS_CODING	LOW	None	0.07129	0.07129	0.12971				None None	None None None None	AKAP11\|0.091513313\|52.94%
AL136218.1
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_93.variant38	13	rs3764090 dbSNP Clinvar	50008301	6708.72	A	G	PASS	0/1	183	SYNONYMOUS_CODING	LOW	None	0.83167	0.83170					None None	None None None None	CAB39L\|0.342406603\|24.66%
AL355390.1
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_93.variant38	13	rs1931954 dbSNP Clinvar	74988714	416.35	C	T	PASS	0/1	20	NON_SYNONYMOUS_CODING	MODERATE	None	0.43770	0.43770			0.00		None None	None None None None	None
AL445989.1
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_93.variant38	13	rs757251234 dbSNP Clinvar	64320959	1221.01	C	CC...	PASS	1/1	27	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	None
ARHGEF7
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_93.variant38	13	rs2296354 dbSNP Clinvar	111870037	4214.11	T	C	PASS	0/1	113	SYNONYMOUS_CODING	LOW	None	0.24880	0.24880	0.12763				None None	None None None None	ARHGEF7\|0.333638476\|25.2%
ARL11
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_93.variant38	13	rs3803185 dbSNP Clinvar	50205025	1706.17	T	C	PASS	1/1	176	NON_SYNONYMOUS_CODING	MODERATE	None	0.25379	0.25380	0.38925	0.52	0.00		None None	None None None None	ARL11\|0.011853992\|79.33%
ATP11A
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