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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCC8, ABCG4, AHNAK, AMPD3, ANO9, AP2A2, APIP, ARFIP2, ATHL1, ATM, B4GALNT4, BACE1, BRSK2, C11orf35, C11orf94, CCDC73, CCDC82, CCDC88B, CD151, CD81, CDHR5, CTSW, DKFZP434E1119, DNHD1, DPF2, DRD4, DSCAML1, EED, EFCAB4A, EPS8L2, F2, FOLH1, GRM5, HBD, IFITM1, IFITM2, IFITM5, IGSF22, IRF7, KBTBD3, KCNJ5, KMT2A, LRP4, LRRC10B, LRRC56, MUC5AC, MUC5B, MUC6, NAA40, NAT10, NCR3LG1, NLRP6, ODF3, OR10A2, OR8A1, OTOG, PACS1, PDDC1, PELI3, PEX16, PGA5, PHLDB1, PHRF1, PIDD, PKP3, PNPLA2, POLR2L, PPFIBP2, PSMC3, PSMD13, RAB1B, RNH1, RP11-113D6.10, SCGB1C1, SIGIRR, SLC22A12, SLC22A18AS, SMTNL1, ST3GAL4, TMEM225, TREH, TRIM44, TRIM49B, TSPAN4, TUB, TUT1, USP47, VWA5A,

+ Genes associated with diseases 26

Genes at Omim

ABCC8, AMPD3, ATM, CD151, CD81, DPF2, DRD4, EED, EPS8L2, F2, HBD, IFITM5, IRF7, KCNJ5, KMT2A, LRP4, LRRC56, MUC5B, OTOG, PACS1, PEX16, PNPLA2, SLC22A12, TREH, TRIM44, TUB,

ABCC8	Diabetes mellitus, noninsulin-dependent, 125853 (3) Diabetes mellitus, permanent neonatal, 606176 (3) Diabetes mellitus, transient neonatal 2, 610374 (3) Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
AMPD3	[AMP deaminase deficiency, erythrocytic], 612874 (3)
ATM	{Breast cancer, susceptibility to}, 114480 (3) Ataxia-telangiectasia, 208900 (3) Lymphoma, B-cell non-Hodgkin, somatic (3) Lymphoma, mantle cell, somatic (3) T-cell prolymphocytic leukemia, somatic (3)
CD151	Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3) [Blood group, Raph], 179620 (3)
CD81	Immunodeficiency, common variable, 6, 613496 (3)
DPF2	Coffin-Siris syndrome 7, 618027 (3)
DRD4	Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3)
EED	Cohen-Gibson syndrome, 617561 (3)
EPS8L2	Deafness autosomal recessive 106, 617637 (3)
F2	{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3) Dysprothrombinemia, 613679 (3) {Stroke, ischemic, susceptibility to}, 601367 (3) Hypoprothrombinemia, 613679 (3) Thrombophilia due to thrombin defect, 188050 (3)
HBD	Thalassemia due to Hb Lepore (3) Thalassemia, delta- (3)
IFITM5	Osteogenesis imperfecta, type V, 610967 (3)
IRF7	?Immunodeficiency 39, 616345 (3)
KCNJ5	Hyperaldosteronism, familial, type III, 613677 (3) Long QT syndrome 13, 613485 (3)
KMT2A	Leukemia, myeloid/lymphoid or mixed-lineage (2) Wiedemann-Steiner syndrome, 605130 (3)
LRP4	Cenani-Lenz syndactyly syndrome, 212780 (3) Sclerosteosis 2, 614305 (3) ?Myasthenic syndrome, congenital, 17, 616304 (3)
LRRC56	Ciliary dyskinesia, primary, 39, 618254 (3)
MUC5B	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
OTOG	Deafness, autosomal recessive 18B, 614945 (3)
PACS1	Schuurs-Hoeijmakers syndrome, 615009 (3)
PEX16	Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3) Peroxisome biogenesis disorder 8B, 614877 (3)
PNPLA2	Neutral lipid storage disease with myopathy, 610717 (3)
SLC22A12	Hypouricemia, renal, 220150 (3)
TREH	Trehalase deficiency, 612119 (3)
TRIM44	?Aniridia 3, 617142 (3)
TUB	?Retinal dystrophy and obesity, 616188 (3)

Genes at Clinical Genomics Database

ABCC8, AMPD3, ATM, CD151, CD81, F2, IFITM5, IRF7, KCNJ5, KMT2A, LRP4, OTOG, PACS1, PEX16, PNPLA2, SLC22A12, TUB,

ABCC8	Diabetes mellitus, transient neonatal, 2 Diabetes, permanent neonatal Hyperinsulinemic hypoglycemia, familial, 1 Hypoglycemia, leucine-induced
AMPD3	Erythrocytic AMP deaminase deficiency
ATM	Breast cancer, susceptibility to Ataxia-Telangiectasia
CD151	Raph blood group
CD81	Immunodeficiency, common variable, 6
F2	Prothrombin deficiency, congenital Thrombophilia due to thrombin defect
IFITM5	Osteogenesis imperfecta, type V
IRF7	Immunodeficiency 39
KCNJ5	Long QT syndrome 13 Hyperaldosteronism, familial, type III
KMT2A	Wiedemann-Steiner syndrome
LRP4	Cenani-Lenz syndactyly syndrome Myasthenic syndrome, congenital 17 Sclerosteosis 2
OTOG	Deafness, autosomal recessive 18B
PACS1	Mental retardation, autosomal dominant 17
PEX16	Peroxisome biogenesis factor disorder 16
PNPLA2	Neutral lipid storage disease with myopathy
SLC22A12	Hypouricemia, renal 1
TUB	Retinal dystrophy and obesity

Genes at HGMD

Summary

Number of Variants: 3255
Number of Genes: 88

Export to: CSV

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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	dados_brutos_saude	11	.	17414646	1431.77	G	A	PASS	0\|1	84	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ABCC8\|0.967482639\|1.79%
	View	dados_brutos_saude	11	.	17414644	1431.77	A	G	PASS	0\|1	86	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.11	0.21		None None	None None None None	ABCC8\|0.967482639\|1.79%
	View	dados_brutos_saude	11	.	17498195	659.77	C	G	PASS	0/1	83	SYNONYMOUS_CODING	LOW								None None	None None None None	ABCC8\|0.967482639\|1.79%
ABCG4
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	dados_brutos_saude	11	.	119025252	605.77	G	A	PASS	0/1	63	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ABCG4\|0.426081578\|19.31%
	View	dados_brutos_saude	11	.	119024976	539.77	C	T	PASS	0/1	50	SYNONYMOUS_CODING	LOW								None None	None None None None	ABCG4\|0.426081578\|19.31%
	View	dados_brutos_saude	11	.	119027609	453.77	G	A	PASS	0/1	41	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	1.00		None None	None None None None	ABCG4\|0.426081578\|19.31%
AHNAK
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	dados_brutos_saude	11	.	62296427	1872.73	C	CA	PASS	0/1	177	FRAME_SHIFT	HIGH								None None	None None None None	AHNAK\|0.340600581\|24.81%
AMPD3
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	dados_brutos_saude	11	.	10500217	4577.77	T	C	PASS	1/1	140	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	AMPD3\|0.504907229\|15.58%
ANO9
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	dados_brutos_saude	11	rs79329594 dbSNP Clinvar	433357	2491.77	G	T	PASS	0/1	214	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01098	0.01098	0.01592	0.68	0.00		None None	None None None None	ANO9\|0.005315208\|85.4%
	View	dados_brutos_saude	11	rs10794323 dbSNP Clinvar	428385	4354.77	A	G	PASS	1/1	140	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.92173	0.92170	0.15092	0.40	0.00		None None	None None None None	ANO9\|0.005315208\|85.4%
	View	dados_brutos_saude	11	rs79298697 dbSNP Clinvar	432039	666.77	G	A	PASS	0/1	79	SYNONYMOUS_CODING	LOW	SILENT	0.01597	0.01597	0.02153				None None	None None None None	ANO9\|0.005315208\|85.4%
	View	dados_brutos_saude	11	rs10794324 dbSNP Clinvar	428489	3028.77	T	C	PASS	1/1	90	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.91893	0.91890	0.16818	1.00	0.00		None None	None None None None	ANO9\|0.005315208\|85.4%
AP2A2
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	dados_brutos_saude	11	rs10794358 dbSNP Clinvar	985547	3267.77	C	T	PASS	0/1	264	SYNONYMOUS_CODING	LOW	SILENT	0.46106	0.46110	0.44776				None None	None None None None	AP2A2\|0.023484891\|72.44%
	View	dados_brutos_saude	11	rs11538725 dbSNP Clinvar	993907	2746.77	C	G	PASS	0/1	199	SYNONYMOUS_CODING	LOW	SILENT	0.18451	0.18450	0.13097				None None	None None None None	AP2A2\|0.023484891\|72.44%
APIP
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	dados_brutos_saude	11	.	34916568	474.77	C	A	PASS	0/1	47	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	APIP\|0.209674362\|35.61%
ARFIP2
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	dados_brutos_saude	11	.	6498412	3293.77	G	A	PASS	1/1	103	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ARFIP2\|0.460080376\|17.68%