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Genes:
ABCC2, ABLIM1, ADAM12, ADAM8, ADAMTS14, ADIRF, ADRB1, AFAP1L2, AGAP7, AIFM2, AKR1C3, AKR1C4, ALOX5, ANK3, ANKRD16, ANKRD2, ANKRD30A, ANXA11, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ARMS2, ATE1, ATRNL1, BAG3, BAMBI, BEND7, BICC1, BMPR1A, BMS1, BTBD16, C10ORF68, C10orf107, C10orf118, C10orf120, C10orf129, C10orf25, C10orf35, C10orf53, C10orf54, C10orf67, C10orf95, CACNB2, CALHM1, CALHM3, CALY, CAMK2G, CCAR1, CCDC3, CCDC6, CCNY, CDH23, CDHR1, CELF2, CEP55, CH25H, CHAT, CHST15, CNNM2, COL13A1, COL17A1, CPEB3, CPXM2, CTBP2, CUBN, CUL2, CUZD1, CWF19L1, CYP17A1, CYP26A1, CYP26C1, CYP2C8, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNMBP, DNTT, DOCK1, DPYSL4, DUSP5, DYDC2, EBF3, EBLN1, ECHDC3, ECHS1, EGR2, EIF4EBP2, ENO4, EPC1, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, FAM13C, FAM160B1, FAM170B, FAM175B, FAM178A, FAM196A, FAM208B, FAM24B, FAM35A, FAM45A, FANK1, FAS, FGFR2, FRA10AC1, FRMPD2, GBF1, GFRA1, GPAM, GPR123, GPR158, GPR26, GPRIN2, GSTO1, GSTO2, GTPBP4, HABP2, HELLS, HIF1AN, HK1, HKDC1, HPS1, HPSE2, HSPA12A, IFIT1, IFIT1B, IFIT2, IFIT5, INA, INPP5F, IPMK, ITGA8, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAZALD1, KIAA1217, KIAA1279, KIAA1462, KIF20B, LGI1, LHPP, LIPA, LIPF, LIPJ, LIPK, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LZTS2, MAP3K8, MASTL, MAT1A, MBL2, MCM10, MEIG1, MKI67, MLLT10, MMRN2, MMS19, MSRB2, MTG1, MTRNR2L5, MTRNR2L7, MYO3A, MYOF, MYPN, NCOA4, NDST2, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NOC3L, NODAL, NPY4R, NRAP, NRG3, NRP1, NT5C2, OBFC1, OGDHL, OLAH, OPN4, OPTN, OR13A1, PALD1, PANK1, PAOX, PARD3, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDE6C, PFKP, PHYHIPL, PIK3AP1, PIP4K2A, PITRM1, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPAPDC1A, PPP2R2D, PRF1, PRLHR, PSTK, PTCHD3, PTPRE, PWWP2B, R3HCC1L, RAB11FIP2, RBM20, RBP3, RET, RNLS, RPP38, RRP12, RSU1, RTKN2, RUFY2, SCD, SEC23IP, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFTPA1, SFTPA2, SFTPD, SFXN4, SGMS1, SGPL1, SH2D4B, SLC18A2, SLC18A3, SLC29A3, SLC39A12, SLIT1, SMC3, SORBS1, SORCS3, SPAG6, SRGN, STAM, STAMBPL1, STK32C, SUPV3L1, SVIL, SYT15, TACC2, TAF3, TBC1D12, TCERG1L, TCTN3, TECTB, TET1, THNSL1, TLL2, TM9SF3, TMEM180, TMEM72, TNKS2, TRUB1, TSPAN14, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, UNC5B, VCL, VDAC2, VENTX, VSTM4, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WDR96, ZDHHC6, ZFYVE27, ZMIZ1, ZNF239, ZNF33A, ZNF365, ZNF438, ZNF503, ZSWIM8, ZWINT,

+ Genes associated with diseases 78

Genes at Omim

ABCC2, ADRB1, AKR1C4, ALOX5, ANK3, ANXA11, ARMC4, BAG3, BICC1, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CEP55, CHAT, CNNM2, COL13A1, COL17A1, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, DCLRE1C, DHTKD1, DNA2, EBF3, ECHS1, EGR2, ERCC6, ERLIN1, FAS, FGFR2, HABP2, HELLS, HK1, HPS1, HPSE2, ITGA8, KIAA1279, LGI1, LIPA, LIPN, MAP3K8, MAT1A, MBL2, MYO3A, MYPN, NEUROG3, NFKB2, NHLRC2, NKX6-2, NODAL, NT5C2, OPTN, PCDH15, PDE6C, PLAU, PLCE1, PNLIP, PRF1, RBM20, RBP3, RET, SFTPA2, SFXN4, SGPL1, SLC18A2, SLC18A3, SLC29A3, SMC3, TCTN3, TUBB8, VCL, WDR11, ZFYVE27, ZNF365,

ABCC2	Dubin-Johnson syndrome, 237500 (3)
ADRB1	[Resting heart rate], 607276 (3) {Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C4	{46XY sex reversal 8, modifier of}, 614279 (3)
ALOX5	{Asthma, diminished response to antileukotriene treatment in}, 600807 (3) {Atherosclerosis, susceptibility to} (3)
ANK3	?Mental retardation, autosomal recessive, 37, 615493 (3)
ANXA11	Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4	Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3	Cardiomyopathy, dilated, 1HH, 613881 (3) Myopathy, myofibrillar, 6, 612954 (3)
BICC1	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BMPR1A	Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3)
BMS1	?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CACNB2	Brugada syndrome 4, 611876 (3)
CDH23	Deafness, autosomal recessive 12, 601386 (3) {Pituitary adenoma 5, multiple types}, 617540 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1	Cone-rod dystrophy 15, 613660 (3) Retinitis pigmentosa 65, 613660 (3)
CEP55	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CNNM2	Hypomagnesemia 6, renal, 613882 (3) Hypomagnesemia, seizures, and mental retardation, 616418 (3)
COL13A1	Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
CUBN	Megaloblastic anemia-1, Finnish type, 261100 (3)
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
CYP17A1	17,20-lyase deficiency, isolated, 202110 (3) 17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1	Focal facial dermal dysplasia 4, 614974 (3)
CYP2C8	{Drug metabolism, altered, CYP2C8-related}, 618018 (3)
DCLRE1C	Omenn syndrome, 603554 (3) Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1	2-aminoadipic 2-oxoadipic aciduria, 204750 (3) ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3) ?Seckel syndrome 8, 615807 (3)
EBF3	Hypotonia, ataxia, and delayed development syndrome, 617330 (3)
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2	Charcot-Marie-Tooth disease, type 1D, 607678 (3) Hypomyelinating neuropathy, congenital, 1, 605253 (3) Dejerine-Sottas disease, 145900 (3)
ERCC6	Cerebrooculofacioskeletal syndrome 1, 214150 (3) {Lung cancer, susceptibility to}, 211980 (3) {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3) Cockayne syndrome, type B, 133540 (3) De Sanctis-Cacchione syndrome, 278800 (3) Premature ovarian failure 11, 616946 (3) UV-sensitive syndrome 1, 600630 (3)
ERLIN1	Spastic paraplegia 62, 615681 (3)
FAS	Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) Squamous cell carcinoma, burn scar-related, somatic (3) {Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) Apert syndrome, 101200 (3) Gastric cancer, somatic, 613659 (3) Beare-Stevenson cutis gyrata syndrome, 123790 (3) Bent bone dysplasia syndrome, 614592 (3) Craniofacial-skeletal-dermatologic dysplasia, 101600 (3) Craniosynostosis, nonspecific (3) Crouzon syndrome, 123500 (3) Jackson-Weiss syndrome, 123150 (3) LADD syndrome, 149730 (3) Pfeiffer syndrome, 101600 (3) Saethre-Chotzen syndrome, 101400 (3) Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
HABP2	{Venous thromboembolism, susceptibility to}, 188050 (3) {?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
HK1	Hemolytic anemia due to hexokinase deficiency, 235700 (3) Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) Retinitis pigmentosa 79, 617460 (3)
HPS1	Hermansky-Pudlak syndrome 1, 203300 (3)
HPSE2	Urofacial syndrome 1, 236730 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
KIAA1279	Goldberg-Shprintzen megacolon syndrome, 609460 (3)
LGI1	Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA	Cholesteryl ester storage disease, 278000 (3) Wolman disease, 278000 (3)
LIPN	Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAP3K8	Lung cancer, somatic, 211980 (3)
MAT1A	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3) Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2	{Chronic infections, due to MBL deficiency}, 614372 (3)
MYO3A	Deafness, autosomal recessive 30, 607101 (3)
MYPN	Cardiomyopathy, dilated, 1KK, 615248 (3) Cardiomyopathy, familial restrictive, 4, 615248 (3) Cardiomyopathy, hypertrophic, 22, 615248 (3) Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3	Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2	Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2	FINCA syndrome, 618278 (3)
NKX6-2	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL	Heterotaxy, visceral, 5, 270100 (3)
NT5C2	Spastic paraplegia 45, autosomal recessive, 613162 (3)
OPTN	{Glaucoma, normal tension, susceptibility to}, 606657 (3) Amyotrophic lateral sclerosis 12, 613435 (3) Glaucoma 1, open angle, E, 137760 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PDE6C	Cone dystrophy 4, 613093 (3)
PLAU	Quebec platelet disorder, 601709 (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1	Nephrotic syndrome, type 3, 610725 (3)
PNLIP	?Pancreatic lipase deficiency, 614338 (3)
PRF1	Aplastic anemia, 609135 (3) Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) Lymphoma, non-Hodgkin, 605027 (3)
RBM20	Cardiomyopathy, dilated, 1DD, 613172 (3)
RBP3	?Retinitis pigmentosa 66, 615233 (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)
SFTPA2	Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4	Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1	Nephrotic syndrome, type 14, 617575 (3)
SLC18A2	?Parkinsonism-dystonia, infantile, 2, 618049 (3)
SLC18A3	Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3	Cornelia de Lange syndrome 3, 610759 (3)
TCTN3	Joubert syndrome 18, 614815 (3) Orofaciodigital syndrome IV, 258860 (3)
TUBB8	Oocyte maturation defect 2, 616780 (3)
VCL	Cardiomyopathy, dilated, 1W, 611407 (3) Cardiomyopathy, hypertrophic, 15, 613255 (3)
WDR11	Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZFYVE27	Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZNF365	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ADRB1, ALOX5, ARMC4, BAG3, BICC1, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CHAT, CNNM2, COL13A1, COL17A1, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, DCLRE1C, DHTKD1, DNA2, ECHS1, EGR2, ERCC6, ERLIN1, FAS, FGFR2, HABP2, HELLS, HK1, HPS1, HPSE2, IPMK, ITGA8, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PCDH15, PDE6C, PLAU, PLCE1, PRF1, RBM20, RBP3, RET, SFTPA2, SFXN4, SLC29A3, SMC3, TCTN3, TUBB8, VCL, WDR11, ZFYVE27,

ABCC2	Dubin-Johnson syndrome
ADRB1	Beta-blocker response, association with
ALOX5	Asthma, diminished response to antileukotriene treatment in
ARMC4	Ciliary dyskinesia, primary, 23
BAG3	Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6
BICC1	Renal dysplasia, cystic, susceptibility to
BMPR1A	Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal
BMS1	Aplasia cutis congenita, nonsyndromic
CACNB2	Brugada syndrome 4
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
CDHR1	Cone-rod dystrophy 15 Retinitis pigmentosa 65
CHAT	Myasthenic syndrome, congenital 6, presynaptic
CNNM2	Hypomagnesemia 6 ,renal
COL13A1	Myasthenic syndrome, congenital, 19
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
CUBN	Megaloblastic anemia-1, Finnish type
CWF19L1	Spinocerebellar ataxia, autosomal recessive 17
CYP17A1	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1	Focal facial dermal dysplasia 4
CYP2C8	Rhabdomyolysis, cerivastatin-induced
DCLRE1C	Omenn syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1	Charcot-Marie-Tooth disease, type 2Q 2-aminoadipic and 2-oxoadipic aciduria
DNA2	Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6 Seckel syndrome 8
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2	Charcot-Marie-Tooth disease, demyelinating, type 1D Neuropathy, congenital hypomyelinating, 1 Dejerine-Sottas disease
ERCC6	Xeroderma Pigmentosum-Cockayne Syndrome De Sanctis-Cacchione syndrome Premature ovarian failure 11 (AD)
ERLIN1	Spastic paraplegia 62, autosomal recessive
FAS	Autoimmune lymphoproliferative syndrome, type IA
FGFR2	Lacrimoauriculodentodigital syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sraniofacial-skeletal-dermatological dysplasia Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Apert syndrome Beare-Stevenson cutis gyrata syndrome
HABP2	Thyroid cancer, nonmedullary 5
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPS1	Hermansky-Pudlak syndrome 1
HPSE2	Ochoa syndrome Urofacial syndrome 1
IPMK	Small intestinal carcinoid, hereditary
ITGA8	Renal agenesis, bilateral
LGI1	Epilepsy, familial temporal lobe, 1
LIPA	Cholesterol ester storage disease Wolman disease
LIPN	Ichthyosis, congenital, autosomal recessive 8
MASTL	Thrombocytopenia 2
MAT1A	Methionine adenosyltransferase deficiency
MBL2	Mannose-binding protein deficiency
MYO3A	Deafness, autosomal recessive 30
MYPN	Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4
NEUROG3	Diarrhea 4, malabsorptive, congenital
NFKB2	Immunodeficiency, common variable, 10
NODAL	Heterotaxy, visceral, 5
NT5C2	Spastic paraplegia 45
OPTN	Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PDE6C	Cone dystrophy 4
PLAU	Quebec platelet disorder
PLCE1	Nephrotic syndrome, type 3
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2 Lymphoma, non-Hodgkin Aplastic anemia, adult-onset
RBM20	Cardiomyopathy, dilated, 1DD
RBP3	Retinitis pigmentosa 66
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
SFTPA2	Pulmonary fibrosis, idiopathic
SFXN4	Combined oxidative phosphorylation deficiency 18
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SMC3	Cornelia de Lange syndrome 3
TCTN3	Joubert syndrome 18 Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
TUBB8	Oocyte maturation defect 2
VCL	Cardiomyopathy, familial hypertrophic 15 Cardiomyopathy, dilated, 1W
WDR11	Hypogonadotropic hypogonadism Kallmann syndrome
ZFYVE27	Spastic paraplegia 33, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 1394
Number of Genes: 325

Export to: CSV

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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	tsvc_variants_ionxpress_001	10	.	118031572	32.7301	CCA	C,CC	PASS	0/1	33	None	None	None							None None	None None None None	GFRA1\|0.934619361\|2.66%
TECTB
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	tsvc_variants_ionxpress_001	10	rs726009 dbSNP Clinvar	114053546	636.641	C	G	PASS	1/1	72	SYNONYMOUS_CODING	LOW	None			0.49262				None None	None None None None	TECTB\|0.390152378\|21.4%
RBM20
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	tsvc_variants_ionxpress_001	10	rs890687647 dbSNP Clinvar	112540889	107.173	C	G	PASS	0/1	50	SYNONYMOUS_CODING	LOW	None							None None	None None None None	RBM20\|0.153666147\|42.46%
TUBB8
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	tsvc_variants_ionxpress_001	10	rs144539776 dbSNP Clinvar	93694	39.1462	T	C	PASS	0/1	34	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.01		None None	None None None None	TUBB8\|0.002707074\|89.22%
	View	tsvc_variants_ionxpress_001	10	rs41305669 dbSNP Clinvar	93711	35.5271	C	T	PASS	0/1	37	SYNONYMOUS_CODING	LOW	None							None None	None None None None	TUBB8\|0.002707074\|89.22%
	View	tsvc_variants_ionxpress_001	10	rs41288743 dbSNP Clinvar	93714	40.1434	A	C	PASS	0/1	38	SYNONYMOUS_CODING	LOW	None							None None	None None None None	TUBB8\|0.002707074\|89.22%
DUSP5
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	tsvc_variants_ionxpress_001	10	.	112266822	421.409	GC	AT	PASS	1/1	44	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.00		None None	None None None None	DUSP5\|0.355332181\|23.78%
TUBB8
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	tsvc_variants_ionxpress_001	10	rs61839057 dbSNP Clinvar	93987	37.0062	T	C	PASS	0/1	55	SYNONYMOUS_CODING	LOW	None							None None	None None None None	TUBB8\|0.002707074\|89.22%
	View	tsvc_variants_ionxpress_001	10	rs61839058 dbSNP Clinvar	93994	32.9118	A	G	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	0.10		None None	None None None None	TUBB8\|0.002707074\|89.22%
	View	tsvc_variants_ionxpress_001	10	rs143154682 dbSNP Clinvar	94025	24.1986	T	C	PASS	0/1	44	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.82		None None	None None None None	TUBB8\|0.002707074\|89.22%
	View	tsvc_variants_ionxpress_001	10	rs10904032 dbSNP Clinvar	94026	24.1791	G	A	PASS	0/1	42	SYNONYMOUS_CODING	LOW	None			0.32385				None None	None None None None	TUBB8\|0.002707074\|89.22%
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	tsvc_variants_ionxpress_001	10	.	116596071	72.1003	A	T	PASS	0/1	20	None	None	None							None None	None None None None	FAM160B1\|0.218983196\|34.48%
HIF1AN
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	tsvc_variants_ionxpress_001	10	.	102300491	51.6632	C	T	PASS	0/1	35	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.19	0.01		None None	None None None None	HIF1AN\|0.606273474\|11.58%
KAZALD1
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	tsvc_variants_ionxpress_001	10	rs767513445 dbSNP Clinvar	102824604	30.7623	TC	T	PASS	0/1	143	FRAME_SHIFT	HIGH	None							None None	None None None None	KAZALD1\|0.120987492\|47.28%
SORBS1