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Genes:
ABCA13, ACOX1, ACSF3, ALG11, ALG13, ALK, ALMS1, APCDD1, AQP7, AURKA, AXIN2, BAAT, C4A, CATSPER1, CD177, CDH15, CDSN, COL17A1, COL18A1, COL6A3, CR1, CREBBP, CSF2RA, CSGALNACT1, CYP2D6, DBH, DISP1, DROSHA, DSG4, DST, ECM1, EDAR, EHMT1, ERCC5, EXO1, FEM1A, FN3K, FSCN2, FUCA1, GJB2, GLTSCR1, GPANK1, GRIN2B, GRIN3A, GSTT2B, HSD17B1, HSD3B7, HSPA1B, HYDIN, IFNA17, IGF2R, IGHG2, JUP, KCNJ9, KCNN3, KERA, KIR2DL1, KIR2DL3, KIR3DL2, KIRREL3, KLK12, KMT2C, KRT13, LINS, MESP2, MPDZ, MYH3, MYLK, NBPF1, NDUFA11, NDUFAF1, NEUROD1, NEUROG3, NLRP2, NOBOX, NOD2, NPR3, NSUN2, OAS1, OBSCN, OPRM1, P2RY12, PCNT, PDGFRA, PER1, PIKFYVE, PKD2, PRKRA, PRND, PROKR2, PTPRF, RET, RPS24, SAA1, SCNN1A, SH3BP2, SLC29A3, SLC7A7, SMARCAD1, SOBP, SORCS1, TAS2R43, TBX15, TBX4, TEP1, TRIOBP, TSHR, TTN, TUBA8, UNC80, UNC93B1,

+ Genes associated with diseases 77

Genes at Omim

ACOX1, ACSF3, ALG11, ALG13, ALK, ALMS1, APCDD1, AQP7, AURKA, AXIN2, BAAT, C4A, CATSPER1, CDH15, CDSN, COL17A1, COL18A1, COL6A3, CR1, CREBBP, CSF2RA, CYP2D6, DBH, DSG4, DST, ECM1, EDAR, EHMT1, ERCC5, FSCN2, FUCA1, GJB2, GRIN2B, HSD3B7, HYDIN, IGF2R, IGHG2, JUP, KERA, KMT2C, KRT13, MESP2, MPDZ, MYH3, MYLK, NDUFA11, NDUFAF1, NEUROD1, NEUROG3, NOBOX, NOD2, NPR3, NSUN2, P2RY12, PCNT, PDGFRA, PIKFYVE, PKD2, PRKRA, PROKR2, PTPRF, RET, RPS24, SCNN1A, SH3BP2, SLC29A3, SLC7A7, SMARCAD1, SOBP, TBX15, TBX4, TRIOBP, TSHR, TTN, TUBA8, UNC80, UNC93B1,

ACOX1	Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACSF3	Combined malonic and methylmalonic aciduria, 614265 (3)
ALG11	Congenital disorder of glycosylation, type Ip, 613661 (3)
ALG13	Epileptic encephalopathy, early infantile, 36, 300884 (3) ?Congenital disorder of glycosylation, type Is, 300884 (3)
ALK	{Neuroblastoma, susceptibility to, 3}, 613014 (3)
ALMS1	Alstrom syndrome, 203800 (3)
APCDD1	Hypotrichosis 1, 605389 (3)
AQP7	[Glycerol quantitative trait locus], 614411 (3)
AURKA	{Colon cancer, susceptibility to}, 114500 (3)
AXIN2	Colorectal cancer, somatic, 114500 (3) Oligodontia-colorectal cancer syndrome, 608615 (3)
BAAT	Hypercholanemia, familial, 607748 (3)
C4A	C4a deficiency, 614380 (3) [Blood group, Rodgers], 614374 (3)
CATSPER1	Spermatogenic failure 7, 612997 (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
CDSN	Hypotrichosis 2, 146520 (3) Peeling skin syndrome 1, 270300 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COL6A3	Bethlem myopathy 1, 158810 (3) Dystonia 27, 616411 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
CR1	CR1 deficiency (1) {Malaria, severe, resistance to}, 611162 (3) [Blood group, Knops system], 607486 (3) {?SLE susceptibility} (1)
CREBBP	Menke-Hennekam syndrome 1, 618332 (3) Rubinstein-Taybi syndrome 1, 180849 (3)
CSF2RA	Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
DBH	Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DSG4	Hypotrichosis 6, 607903 (3)
DST	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
ECM1	Urbach-Wiethe disease, 247100 (3)
EDAR	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3) Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) [Hair morphology 1, hair thickness], 612630 (3)
EHMT1	Kleefstra syndrome 1, 610253 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
FSCN2	Retinitis pigmentosa 30, 607921 (3)
FUCA1	Fucosidosis, 230000 (3)
GJB2	Bart-Pumphrey syndrome, 149200 (3) Hystrix-like ichthyosis with deafness, 602540 (3) Deafness, autosomal dominant 3A, 601544 (3) Deafness, autosomal recessive 1A, 220290 (3) Keratitis-ichthyosis-deafness syndrome, 148210 (3) Keratoderma, palmoplantar, with deafness, 148350 (3) Vohwinkel syndrome, 124500 (3)
GRIN2B	Epileptic encephalopathy, early infantile, 27, 616139 (3) Mental retardation, autosomal dominant 6, 613970 (3)
HSD3B7	Bile acid synthesis defect, congenital, 1, 607765 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IGF2R	Hepatocellular carcinoma, somatic, 114550 (3)
IGHG2	IgG2 deficiency, selective (3)
JUP	Arrhythmogenic right ventricular dysplasia 12, 611528 (3) Naxos disease, 601214 (3)
KERA	Cornea plana 2, autosomal recessive, 217300 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
KRT13	White sponge nevus 2, 615785 (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MPDZ	Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MYH3	Arthrogryposis, distal, type 2A, 193700 (3) Arthrogryposis, distal, type 2B, 601680 (3) Arthrogryposis, distal, type 8, 178110 (3)
MYLK	Aortic aneurysm, familial thoracic 7, 613780 (3)
NDUFA11	Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFAF1	Mitochondrial complex I deficiency, nuclear type 11, 618234 (3)
NEUROD1	Maturity-onset diabetes of the young 6, 606394 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
NEUROG3	Diarrhea 4, malabsorptive, congenital, 610370 (3)
NOBOX	Premature ovarian failure 5, 611548 (3)
NOD2	Blau syndrome, 186580 (3) {Inflammatory bowel disease 1, Crohn disease}, 266600 (3) {Psoriatic arthritis, susceptibility to}, 607507 (2) {Yao syndrome}, 617321 (3)
NPR3	?Hypertension, salt-resistant (1)
NSUN2	Mental retardation, autosomal recessive 5, 611091 (3)
P2RY12	Bleeding disorder, platelet-type, 8, 609821 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PDGFRA	Gastrointestinal stromal tumor, somatic, 606764 (3) Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PIKFYVE	Corneal fleck dystrophy, 121850 (3)
PKD2	Polycystic kidney disease 2, 613095 (3)
PRKRA	Dystonia 16, 612067 (3)
PROKR2	Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)
PTPRF	?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
RET	{Hirschsprung disease, protection against}, 142623 (3) {Hirschsprung disease, susceptibility to, 1}, 142623 (3) Central hypoventilation syndrome, congenital, 209880 (3) Medullary thyroid carcinoma, 155240 (3) Multiple endocrine neoplasia IIA, 171400 (3) Multiple endocrine neoplasia IIB, 162300 (3) Pheochromocytoma, 171300 (3)
RPS24	Diamond-blackfan anemia 3, 610629 (3)
SCNN1A	Bronchiectasis with or without elevated sweat chloride 2, 613021 (3) ?Liddle syndrome 3, 618126 (3) Pseudohypoaldosteronism, type I, 264350 (3)
SH3BP2	Cherubism, 118400 (3)
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SLC7A7	Lysinuric protein intolerance, 222700 (3)
SMARCAD1	Adermatoglyphia, 136000 (3) Basan syndrome, 129200 (3) Huriez syndrome, 181600 (3)
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
TBX15	Cousin syndrome, 260660 (3)
TBX4	Ischiocoxopodopatellar syndrome, 147891 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TSHR	Hyperthyroidism, familial gestational, 603373 (3) Hyperthyroidism, nonautoimmune, 609152 (3) Hypothyroidism, congenital, nongoitrous, 1 275200 (3) Thyroid adenoma, hyperfunctioning, somatic (3) Thyroid carcinoma with thyrotoxicosis (3)
TTN	Cardiomyopathy, dilated, 1G, 604145 (3) Cardiomyopathy, familial hypertrophic, 9, 613765 (3) Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3) Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) Salih myopathy, 611705 (3) Tibial muscular dystrophy, tardive, 600334 (3)
TUBA8	Cortical dysplasia, complex, with other brain malformations 8, 613180 (3)
UNC80	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3)
UNC93B1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)

Genes at Clinical Genomics Database

ACOX1, ACSF3, ALG11, ALG13, ALK, ALMS1, APCDD1, AXIN2, BAAT, C4A, CDH15, CDSN, COL17A1, COL18A1, COL6A3, CR1, CREBBP, CSF2RA, CYP2D6, DBH, DSG4, DST, ECM1, EDAR, EHMT1, ERCC5, FSCN2, FUCA1, GJB2, GRIN2B, HSD3B7, JUP, KERA, KIRREL3, KRT13, MESP2, MPDZ, MYH3, MYLK, NDUFA11, NDUFAF1, NEUROD1, NEUROG3, NOBOX, NOD2, P2RY12, PCNT, PDGFRA, PIKFYVE, PKD2, PRKRA, PROKR2, PTPRF, RET, RPS24, SCNN1A, SH3BP2, SLC29A3, SLC7A7, SMARCAD1, SOBP, TBX15, TBX4, TRIOBP, TSHR, TTN, TUBA8, UNC80, UNC93B1,

ACOX1	Peroxisomal acyl-CoA oxidase deficiency
ACSF3	Combined malonic and methylmalonic aciduria
ALG11	Congenital disorder of glycosylation, type Ip
ALG13	Epileptic encephalopathy, early infantile, 36
ALK	Neuroblastoma, susceptibility to, 3
ALMS1	Alstrom syndrome
APCDD1	Hypotrichosis 1
AXIN2	Oligodontia-colorectal cancer syndrome
BAAT	Hypercholanemia, familial
C4A	Blood group, Chido/Rodgers system
CDH15	Mental retardation, autosomal dominant 3
CDSN	Hypotrichosis 2 Peeling skin syndrome 1
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
COL18A1	Knobloch syndrome 1
COL6A3	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1 Dystonia 27
CR1	Blood group, Knops system
CREBBP	Rubinstein-Taybi syndrome
CSF2RA	Surfactant metabolism dysfunction, pulmonary, 4
CYP2D6	Drug metabolism, CYP2CD6-related
DBH	Dopamine beta-hydroxylase deficiency
DSG4	Hypotrichosis 6
DST	Neuropathy, hereditary sensory and autonomic, type VI
ECM1	Lipoid proteinosis
EDAR	Ectodermal dysplasia, anhidrotic, autosomal dominant Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Hair morphology 1
EHMT1	Kleefstra syndrome
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
FSCN2	Retinitis pigmentosa 30
FUCA1	Fucosidosis
GJB2	Deafness, autosomal recessive 1A Deafness, digenic Hystrix-like ichthyosis with deafness Deafness, autosomal dominant 3A Bart-Pumphrey syndrome Keratoderma, palmoplantar, with deafness Vohwinkel syndrome Keratitis-icthyosis-deafness syndrome
GRIN2B	Mental retardation, autosomal dominant 6 Epileptic encephalopathy, early infantile 27
HSD3B7	Bile acid synthesis defect, congenital, 1
JUP	Arrhythmogenic right ventricular dysplasia, familial, 12 Naxos disease
KERA	Cornea plana 2, autosomal recessive
KIRREL3	Mental retardation, autosomal dominant 4
KRT13	White sponge nevus 2
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MPDZ	Hydrocephalus, nonsyndromic, autosomal recessive 2
MYH3	Arthrogryposis, distal, type 2A Arthyrgryposis, distal, type 2B Arthrogryposis, distal, type 8
MYLK	Aortic aneurysm, familial thoracic 7
NDUFA11	Mitochondrial complex I deficiency
NDUFAF1	Mitochondrial complex I deficiency
NEUROD1	Maturity onset diabetes of the young 6
NEUROG3	Diarrhea 4, malabsorptive, congenital
NOBOX	Premature ovarian failure 5
NOD2	Blau syndrome Sarcoidosis, early-onset
P2RY12	Bleeding disorder, platelet-type, 8
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
PDGFRA	Gastrointestinal stromal tumor
PIKFYVE	Corneal fleck dystrophy
PKD2	Polycystic kidney disease 2
PRKRA	Dystonia 16
PROKR2	Hypogonadotropic hypogonadism 3 with or without anosmia
PTPRF	Breasts and/or nipples, aplasia or hypoplasia of, 2
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
RPS24	Diamond-Blackfan anemia 3
SCNN1A	Pseudohypoaldosteronism, type I Bronchiectasis with or without elevated sweat chloride 2
SH3BP2	Cherubism
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SLC7A7	Lysinuric protein intolerance
SMARCAD1	Adermatoglyphia
SOBP	Mental retardation, anterior maxillary protrusion, and strabismus
TBX15	Cousin syndrome
TBX4	Small patella syndrome
TRIOBP	Deafness, autosomal recessive 28
TSHR	Hyperthyroidism, familial, gestational Hyperthyroidism, nonautoimmune Hypothyroidism, congenital, nongoitrous, 1
TTN	Cardiomyopathy, familial hypertrophic 9 Cardiomyopathy, dilated, 1G
TUBA8	Polymicrogyria with optic nerve hypoplasia
UNC80	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
UNC93B1	Herpes simplex encephalitis, susceptibility to, 1

Genes at HGMD

Summary

Number of Variants: 198
Number of Genes: 111

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ABCA13
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	muestra2_s1	7	rs78147863 dbSNP Clinvar	48411787	479.89	A	C	SB	0/1	34	NON_SYNONYMOUS_CODING	MODERATE	None	0.00799	0.00799	0.00500		0.78		None None	None None None None	ABCA13\|0.04721773\|63.52%
ACOX1
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	muestra2_s1	17	rs1135640 dbSNP Clinvar	73949540	174.91	G	C	SB	0/1	13	NON_SYNONYMOUS_CODING	MODERATE	None	0.55072	0.55070	0.49131	0.17	0.00		None None	None None None None	ACOX1\|0.181440529\|38.86%
ACSF3
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	muestra2_s1	16	rs7188200 dbSNP Clinvar	89167094	1313.66	T	C	SB	1/1	35	NON_SYNONYMOUS_CODING	MODERATE	None	0.62440	0.62440		0.27	0.00		None None	None None None None	ACSF3\|0.012049699\|79.2%
ALG11
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	muestra2_s1	13	rs17480245 dbSNP Clinvar	52598189	277.13	A	G	SB	0/1	18	NON_SYNONYMOUS_CODING	MODERATE	None	0.01857	0.01857	0.00838	0.91	0.00		None None	None None None None	ALG11\|0.150634344\|42.89%
ALG13
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	muestra2_s1	X	rs868186329 dbSNP Clinvar	110988067	60.29	A	C	SB	0/1	28	NON_SYNONYMOUS_CODING	MODERATE	None				0.24	0.00		None None	None None None None	ALG13\|0.14657544\|43.52%
ALK
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	muestra2_s1	2	rs1670283 dbSNP Clinvar	29416572	1633.33	T	C	SB	1/1	44	NON_SYNONYMOUS_CODING	MODERATE	None	0.99221	0.99220	0.00969	0.71	0.00		None None	None None None None	ALK\|0.859785808\|4.47%
	View	muestra2_s1	2	rs4358080 dbSNP Clinvar	30143499	622.7	G	C	SB	1/1	17	SYNONYMOUS_CODING	LOW	None	0.89377	0.89380	0.09071				None None	None None None None	ALK\|0.859785808\|4.47%
ALMS1
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	muestra2_s1	2	rs3813227 dbSNP Clinvar	73651967	251.54	C	T	SB	0/1	30	NON_SYNONYMOUS_CODING	MODERATE	None	0.36362	0.36360	0.39451		0.00		None None	None None None None	ALMS1\|0.012791041\|78.65%
	View	muestra2_s1	2	rs1052161 dbSNP Clinvar	73828538	278.93	G	A	SB	0/1	19	NON_SYNONYMOUS_CODING	MODERATE	None	0.58227	0.58230	0.46339		0.01		None None	None None None None	ALMS1\|0.012791041\|78.65%
APCDD1
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	muestra2_s1	18	rs3185480 dbSNP Clinvar	10487918	123.59	C	T	SB	0/1	31	SYNONYMOUS_CODING	LOW	None	0.40994	0.40990	0.35276				None None	None None None None	APCDD1\|0.086159804\|53.92%
AQP7
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	muestra2_s1	9	rs74668961 dbSNP Clinvar	33386465	443.84	A	G	SB	0/1	217	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.41		None None	None None None None	AQP7\|0.012677613\|78.76%
AURKA
Omim - GeneCards - NCBI