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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 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

ABCC2

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 rs2273697
dbSNP Clinvar
101563815 275.242 G A PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.18650 0.18650 0.19214 0.15 0.03 None None None None None None ABCC2|0.186653982|38.2%
View tsvc_variants_ionxpress_001 10 rs8187710
dbSNP Clinvar
101611294 105.182 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.06789 0.06789 0.09419 0.35 0.00 None None None None None None ABCC2|0.186653982|38.2%
View tsvc_variants_ionxpress_001 10 rs8187707
dbSNP Clinvar
101610533 63.2369 C T PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.03095 0.03095 0.05321 None None None None None None ABCC2|0.186653982|38.2%
View tsvc_variants_ionxpress_001 10 rs1137968
dbSNP Clinvar
101606861 170.46 G T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.03814 0.03814 0.06151 None None None None None None ABCC2|0.186653982|38.2%
View tsvc_variants_ionxpress_001 10 rs759452729
dbSNP Clinvar
101604208 173.812 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.29 0.00 None None None None None None ABCC2|0.186653982|38.2%
View tsvc_variants_ionxpress_001 10 rs17222723
dbSNP Clinvar
101595996 107.144 T A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.06097 1.00 0.00 None None None None None None ABCC2|0.186653982|38.2%

ABLIM1

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 rs2247528
dbSNP Clinvar
116307504 388.509 A G PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.78315 0.78310 0.20821 None None None None None None ABLIM1|0.44358146|18.51%

ADAM12

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 rs1044122
dbSNP Clinvar
127724778 156.05 A G PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.24904 None None None None None None ADAM12|0.075293986|56.23%
View tsvc_variants_ionxpress_001 10 rs3740199
dbSNP Clinvar
128019025 134.055 C G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.42803 0.33 0.00 None None None None None None ADAM12|0.075293986|56.23%

ADAM8

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 rs1131718
dbSNP Clinvar
135085754 456.267 G A PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.88359 0.88360 0.12098 None None None None None None ADAM8|0.004556093|86.35%
View tsvc_variants_ionxpress_001 10 rs2275725
dbSNP Clinvar
135089035 210.446 A G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.90316 0.90320 0.09083 1.00 0.00 None None None None None None ADAM8|0.004556093|86.35%
View tsvc_variants_ionxpress_001 10 rs1131719
dbSNP Clinvar
135085426 489.528 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.91893 0.91890 0.08042 None None None None None None ADAM8|0.004556093|86.35%
View tsvc_variants_ionxpress_001 10 rs3008326
dbSNP Clinvar
135087521 732.324 G A PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.72424 0.72420 0.28998 None None None None None None ADAM8|0.004556093|86.35%
View tsvc_variants_ionxpress_001 10 rs2275720
dbSNP Clinvar
135082346 223.877 A G PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.82428 0.82430 0.19900 0.68 0.00 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS14

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 rs10823607
dbSNP Clinvar
72500763 485.026 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.79992 0.79990 0.19168 0.32 0.00 None None None None None None ADAMTS14|0.04385867|64.56%
View tsvc_variants_ionxpress_001 10 rs2587475
dbSNP Clinvar
72513682 211.905 C T PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.52516 0.52520 0.45384 None None None None None None ADAMTS14|0.04385867|64.56%
View tsvc_variants_ionxpress_001 10 rs10999502
dbSNP Clinvar
72503344 94.9413 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.31150 0.31150 0.19868 None None None None None None ADAMTS14|0.04385867|64.56%
View tsvc_variants_ionxpress_001 10 rs4747096
dbSNP Clinvar
72518009 243.084 A G PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.21805 0.21810 0.17046 1.00 0.00 None None None None None None ADAMTS14|0.04385867|64.56%
View tsvc_variants_ionxpress_001 10 rs10999516
dbSNP Clinvar
72517830 225.134 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.21346 0.21350 0.16554 0.14 0.29 None None None None None None ADAMTS14|0.04385867|64.56%
View tsvc_variants_ionxpress_001 10 rs10999500
dbSNP Clinvar
72500863 465.555 C G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.66713 0.66710 0.38190 None None None None None None ADAMTS14|0.04385867|64.56%

ADIRF

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 rs4869
dbSNP Clinvar
88730312 890.437 T C PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.48224 None None None None None None ADIRF|0.020192818|74.07%

ADRB1

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 rs1801253
dbSNP Clinvar
115805056 92.3435 G C PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.70168 0.70170 0.30033 1.00 0.00 None None None None None None ADRB1|0.666700808|9.49%

AFAP1L2

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 rs2286396
dbSNP Clinvar
116060387 167.573 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.64157 0.64160 0.31855 None None None None None None AFAP1L2|0.092781823|52.66%
View tsvc_variants_ionxpress_001 10 rs3813722
dbSNP Clinvar
116073696 194.608 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.58486 0.58490 0.42019 None None None None None None AFAP1L2|0.092781823|52.66%
View tsvc_variants_ionxpress_001 10 rs621375
dbSNP Clinvar
116073801 100.233 T C PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.34307 None None None None None None AFAP1L2|0.092781823|52.66%

AGAP7

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 rs201285097
dbSNP Clinvar
51465478 103.515 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00154 None None None None None None AGAP7P|0.001668593|92.02%

AIFM2

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 rs2394656
dbSNP Clinvar
71876382 89.7834 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.60064 0.60060 0.32316 None None None None None None AIFM2|0.142363482|44.1%
View tsvc_variants_ionxpress_001 10 rs10999147
dbSNP Clinvar
71880858 91.075 A G PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.09285 0.09285 0.06659 0.00 0.11 None None None None None None AIFM2|0.142363482|44.1%
View tsvc_variants_ionxpress_001 10 rs1053495
dbSNP Clinvar
71874048 121.676 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.18950 0.18950 0.13578 None None None None None None AIFM2|0.142363482|44.1%

AKR1C3

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 rs12529
dbSNP Clinvar
5136651 304.397 C G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.57967 0.57970 0.43002 0.40 0.00 None None None None None None AKR1C3|0.002438134|89.81%
View tsvc_variants_ionxpress_001 10 rs12387
dbSNP Clinvar
5139685 615.549 G A PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.84824 0.84820 0.15693 None None None None None None AKR1C3|0.002438134|89.81%

AKR1C4

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 rs17306779
dbSNP Clinvar
5242164 335.776 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.16514 0.16510 0.18853 None None None None None None AKR1C4|0.002829069|88.97%
View tsvc_variants_ionxpress_001 10 rs4880718
dbSNP Clinvar
5255025 758.779 A G PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%

ALOX5

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 . 45869772 94.1313 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None ALOX5|0.283681032|28.83%

ANK3

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 rs61845768
dbSNP Clinvar
61830584 45.7886 T C PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00400 0.09 0.01 None None None None None None ANK3|0.919303788|3%
View tsvc_variants_ionxpress_001 10 rs10740006
dbSNP Clinvar
61831744 138.863 A G PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.12600 0.12600 0.19053 None None None None None None ANK3|0.919303788|3%
View tsvc_variants_ionxpress_001 10 rs10821668
dbSNP Clinvar
61831271 127.906 T C PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.12580 0.12580 0.18991 0.94 0.00 None None None None None None ANK3|0.919303788|3%

ANKRD16

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 rs631947
dbSNP Clinvar
5925971 87.7542 C A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.92252 0.92250 0.08435 None None None None None None ANKRD16|0.021840736|73.25%
View tsvc_variants_ionxpress_001 10 rs1052420
dbSNP Clinvar
5920121 112.322 T C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.80391 0.80390 0.17846 0.33 0.00 None None None None None None ANKRD16|0.021840736|73.25%

ANKRD2

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 rs7094973
dbSNP Clinvar
99337572 136.992 G A PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.45407 0.45410 0.43891 0.59 0.00 None None None None None None ANKRD2|0.135833884|44.99%
View tsvc_variants_ionxpress_001 10 rs12221474
dbSNP Clinvar
99332488 60.0022 A C PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.35344 0.35340 0.24835 None None None None None None ANKRD2|0.135833884|44.99%

ANKRD30A

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 rs34552277
dbSNP Clinvar
37505159 122.194 G A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.22764 0.22760 0.28179 0.16 0.04 None None None None None None ANKRD30A|0.001436042|93.14%
View tsvc_variants_ionxpress_001 10 rs1209750
dbSNP Clinvar
37488689 131.052 G C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.48223 0.48220 0.40331 0.27 0.02 None None None None None None ANKRD30A|0.001436042|93.14%
View tsvc_variants_ionxpress_001 10 rs57914746
dbSNP Clinvar
37505179 140.668 T C PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.15875 0.15870 0.21071 None None None None None None ANKRD30A|0.001436042|93.14%

ANXA11

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 rs1049550
dbSNP Clinvar
81926702 163.659 G A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.33923 0.02 1.00 None None None None None None ANXA11|0.080075284|55.15%

ARHGAP19

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 rs2253301
dbSNP Clinvar
99019177 357.447 A G PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.84445 0.84440 0.10049 None None None None None None ARHGAP19-SLIT1|0.508518585|15.45%,ARHGAP19|0.371362941|22.63%

ARHGAP21

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 rs3748222
dbSNP Clinvar
24908686 274.096 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.43830 0.43830 0.49047 1.00 0.00 None None None None None None ARHGAP21|0.073197055|56.74%

ARHGAP22

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 rs4080665
dbSNP Clinvar
49687800 63.8366 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.78934 0.78930 0.25035 None None None None None None ARHGAP22|0.033591165|67.92%
View tsvc_variants_ionxpress_001 10 rs3853761
dbSNP Clinvar
49667795 560.716 T C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.90196 0.90200 0.10449 None None None None None None ARHGAP22|0.033591165|67.92%

ARMC3

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 rs10828395
dbSNP Clinvar
23297252 336.216 G A PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.18850 0.18850 0.21215 0.69 0.02 None None None None None None ARMC3|0.037067211|66.75%

ARMC4

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 rs7893462
dbSNP Clinvar
28228865 393.072 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.49193 None None None None None None ARMC4|0.02617115|71.23%

ARMS2

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 rs10490924
dbSNP Clinvar
124214448 220.918 G T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.28654 0.28650 0.20548 0.00 0.96 None None None None None None ARMS2|0.000659964|97.48%
View tsvc_variants_ionxpress_001 10 rs2736911
dbSNP Clinvar
124214355 149.007 C T PASS 0/1 73 STOP_GAINED HIGH None 0.11442 0.11440 0.12546 None None None None None None ARMS2|0.000659964|97.48%

ATE1

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 rs10749435
dbSNP Clinvar
123673339 382.755 T C PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.89916 0.89920 0.08473 None None None None None None ATE1|0.12976795|45.9%
View tsvc_variants_ionxpress_001 10 rs4237536
dbSNP Clinvar
123596254 234.521 T C PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.88918 0.88920 0.09029 None None None None None None ATE1|0.12976795|45.9%
View tsvc_variants_ionxpress_001 10 rs35350755
dbSNP Clinvar
123549691 260.283 T G PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.50160 0.50160 0.45648 None None None None None None ATE1|0.12976795|45.9%

ATRNL1

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 rs2254619
dbSNP Clinvar
117486763 600.099 G T PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.20108 0.20110 0.31893 None None None None None None ATRNL1|0.785284373|6.21%
View tsvc_variants_ionxpress_001 10 rs1953758
dbSNP Clinvar
117075175 770.803 G A PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.96905 0.96900 0.03522 0.58 0.00 None None None None None None ATRNL1|0.785284373|6.21%
View tsvc_variants_ionxpress_001 10 rs10885721
dbSNP Clinvar
117228794 71.9528 A G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.34445 0.34440 0.45552 None None None None None None ATRNL1|0.785284373|6.21%

BAG3

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 rs196295
dbSNP Clinvar
121436362 209.529 A G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.70647 0.70650 0.22966 None None None None None None BAG3|0.07885075|55.47%

BAMBI

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 rs146990085
dbSNP Clinvar
28970425 250.591 T C PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.00759 0.00759 0.00077 None None None None None None BAMBI|0.306966161|27.09%

BEND7

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 rs2251555
dbSNP Clinvar
13534851 361.869 A G PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.48063 0.48060 0.44671 None None None None None None BEND7|0.19658774|37.1%

BICC1

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 rs9416746
dbSNP Clinvar
60573753 1641.8 G T PASS 1/1 180 None None None 0.74661 0.74660 0.24881 0.11 0.00 None None None None None None BICC1|0.434919209|18.95%
View tsvc_variants_ionxpress_001 10 rs4344442
dbSNP Clinvar
60577393 495.872 T C PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.73742 0.73740 0.26203 None None None None None None BICC1|0.434919209|18.95%
View tsvc_variants_ionxpress_001 10 rs4948550
dbSNP Clinvar
60588553 1059.04 T C PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.60743 0.60740 0.37952 1.00 0.00 None None None None None None BICC1|0.434919209|18.95%

BMPR1A

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 rs11528010
dbSNP Clinvar
88635779 368.89 C A PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.49980 0.49980 0.38951 1.00 0.00 None None None None None None BMPR1A|0.266176156|30.17%

BMS1

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 rs787795
dbSNP Clinvar
43292647 124.588 A G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.18051 0.18050 0.16404 0.16 0.00 None None None None None None BMS1|0.150591768|42.91%

BTBD16

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 rs986178
dbSNP Clinvar
124089075 98.0532 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.09585 0.09585 0.09296 0.01 0.88 None None None None None None BTBD16|0.010433592|80.54%
View tsvc_variants_ionxpress_001 10 rs2421013
dbSNP Clinvar
124089036 91.4648 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.61601 0.61600 0.45710 1.00 0.00 None None None None None None BTBD16|0.010433592|80.54%

C10orf107

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 rs1992625
dbSNP Clinvar
63520698 489.463 T C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.87201 0.87200 0.18156 None None None None None None C10orf107|0.277213376|29.34%

C10orf118

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 rs1061159
dbSNP Clinvar
115922774 34.7138 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.20727 0.20730 0.26288 0.61 0.00 None None None None None None CCDC186|0.201435874|36.59%
View tsvc_variants_ionxpress_001 10 rs7095762
dbSNP Clinvar
115910928 85.9332 G T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.20727 0.20730 0.26280 1.00 0.00 None None None None None None CCDC186|0.201435874|36.59%

C10orf120

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 rs2947594
dbSNP Clinvar
124457452 252.95 C T PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.80771 0.80770 0.21390 1.00 0.00 None None None None None None C10orf120|0.00064322|97.59%

C10orf129

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 rs591157
dbSNP Clinvar
96954298 99.5896 A G PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.38998 0.39000 0.45642 0.63 0.00 None None None None None None ACSM6|0.00147864|92.86%

C10orf25

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 rs12269028
dbSNP Clinvar
45496120 301.221 A T PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.46046 0.46050 0.46040 0.00 0.65 None None None None None None C10orf25|0.000278924|99.5%,ZNF22|0.080438939|55.07%

C10orf35

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 rs1381932
dbSNP Clinvar
71391538 76.3041 T C PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.19429 0.19430 0.24696 None None None None None None C10orf35|0.031164979|68.92%
View tsvc_variants_ionxpress_001 10 rs1052152
dbSNP Clinvar
71392692 1076.88 T C PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.71106 0.71110 0.34676 None None None None None None C10orf35|0.031164979|68.92%
View tsvc_variants_ionxpress_001 10 rs12020
dbSNP Clinvar
71392557 569.189 C T PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.70847 0.70850 0.34962 None None None None None None C10orf35|0.031164979|68.92%

C10orf53

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 rs1133837
dbSNP Clinvar
50901938 60.2878 C T PASS 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35304 0.35300 0.44049 None None None None None None C10orf53|0.004766771|86.14%
View tsvc_variants_ionxpress_001 10 rs4838554
dbSNP Clinvar
50916542 183.383 C T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.39097 0.39100 0.47255 0.97 0.00 None None None None None None C10orf53|0.004766771|86.14%

C10orf54

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 rs3747869
dbSNP Clinvar
73520632 505.182 A C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.89277 0.89280 0.07720 0.61 0.00 None None None None None None CDH23|0.499757104|15.83%,C10orf54|0.085055857|54.19%

C10orf67

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 rs2036917
dbSNP Clinvar
23633566 564.03 C A PASS 1/1 60 None None None 0.67472 0.67470 0.44216 None None None None None None C10orf67|0.002311783|90.14%

C10ORF68

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 rs1762526
dbSNP Clinvar
32974969 469.611 A G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.91653 0.91650 0.08776 1.00 0.00 None None None None None None None
View tsvc_variants_ionxpress_001 10 rs1414548
dbSNP Clinvar
33018351 262.199 G C PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.91653 0.91650 0.08685 None None None None None None None
View tsvc_variants_ionxpress_001 10 rs2504011
dbSNP Clinvar
33137551 70.2809 T C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.22045 0.22040 0.35334 0.02 0.12 None None None None None None None
View tsvc_variants_ionxpress_001 10 rs11009107
dbSNP Clinvar
33123774 105.837 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.21905 0.21900 0.35105 None None None None None None None
View tsvc_variants_ionxpress_001 10 rs4448627
dbSNP Clinvar
33123824 491.074 G C PASS 1/1 52 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98363 0.98360 0.01772 1.00 0.00 None None None None None None None
View tsvc_variants_ionxpress_001 10 rs1418538
dbSNP Clinvar
33143396 357.438 G A PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.98363 0.98360 0.01793 1.00 0.00 None None None None None None None

C10orf95

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 rs2281878
dbSNP Clinvar
104210735 593.805 C A PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.28395 0.28390 0.18942 0.08 0.14 None None None None None None C10orf95|0.005848473|84.77%

CACNB2

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 rs58225473
dbSNP Clinvar
18828635 50.3695 T G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.09704 0.09704 0.15159 0.06 0.02 None None None None None None CACNB2|0.445418011|18.41%

CALHM1

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 rs4918016
dbSNP Clinvar
105218254 285.93 C T PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.30371 0.30370 0.28291 None None None None None None CALHM1|0.140063286|44.38%
View tsvc_variants_ionxpress_001 10 rs2986018
dbSNP Clinvar
105218359 464.8 T C PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.88478 0.88480 0.18169 None None None None None None CALHM1|0.140063286|44.38%
View tsvc_variants_ionxpress_001 10 rs2986017
dbSNP Clinvar
105218252 1205.81 A G PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.87201 0.87200 0.20363 0.44 0.00 None None None None None None CALHM1|0.140063286|44.38%

CALHM3

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 rs2986035
dbSNP Clinvar
105233110 332.327 C T PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.74022 0.74020 1.00 0.01 None None None None None None CALHM3|0.072897037|56.8%

CALY

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 rs138631375
dbSNP Clinvar
135140448 85.5645 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00216 None None None None None None ZNF511|0.006297748|84.28%,CALY|0.014189061|77.74%

CAMK2G

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 rs2675671
dbSNP Clinvar
75632760 39.4069 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.28435 0.28430 0.46432 None None None None None None CAMK2G|0.971266872|1.68%

CCAR1

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 rs1300253
dbSNP Clinvar
70502288 491.124 G A PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.86142 0.86140 0.11887 None None None None None None CCAR1|0.615509188|11.27%

CCDC3

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 rs10906249
dbSNP Clinvar
12940455 178.374 A G PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.99141 0.99140 0.00884 None None None None None None CCDC3|0.140056392|44.39%

CCDC6

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 rs1053266
dbSNP Clinvar
61552692 210.449 G T PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.43530 0.43530 0.42234 0.12 0.99 None None None None None None CCDC6|0.392303176|21.24%
View tsvc_variants_ionxpress_001 10 rs1053265
dbSNP Clinvar
61552774 246.499 C T PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.61162 0.61160 0.34746 None None None None None None CCDC6|0.392303176|21.24%