+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 227

Genes:
ABCC2, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADRB1, AFAP1L2, AGAP5, AGAP7, AKR1C1, AKR1C4, AL359878.1, ALDH18A1, ANK3, ANKRD26, ANXA11, ARHGAP12, ARHGAP21, ASAH2C, ATRNL1, BAG3, BICC1, BLNK, BLOC1S2, BMPR1A, C10ORF68, C10orf11, C10orf12, C10orf35, C10orf71, C10orf90, CALHM1, CALY, CAMK2G, CCAR1, CDC123, CDH23, CDHR1, CHAT, CHST3, CHUK, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CTBP2, CTNNA3, CUBN, CUZD1, CYP17A1, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1C, DDX50, DHTKD1, DIP2C, DKK1, DLG5, DMBT1, DNTT, DPYSL4, DUSP13, DYDC2, EGR2, ENO4, ERCC6, ERLIN1, EXOC6, FAM170B, FAM208B, FAM35A, FBXL15, FGFR2, FRA10AC1, FRMD4A, GAD2, GATA3, GDF10, GDF2, GFRA1, GPAM, GPR123, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HHEX, HIF1AN, HK1, HNRNPF, HPS1, HPS6, HPSE2, INPP5A, ITPRIP, JAKMIP3, JMJD1C, KAT6B, KCNIP2, KCNMA1, KIAA1217, KIAA1462, KNDC1, LGI1, LIPA, LIPN, LRIT2, LRRC27, LZTS2, MALRD1, MASTL, MAT1A, MBL2, MCM10, MCU, MKI67, MLLT10, MMRN2, MORN4, MPP7, MRPL43, MTPAP, MYO3A, MYOF, MYPN, NAMPTL, NET1, NFKB2, NHLRC2, NPM3, NPY4R, NRAP, NRG3, NRP1, NUTM2D, OGDHL, OPN4, OPTN, OR13A1, PAX2, PCDH15, PDE6C, PDLIM1, PDSS1, PDZD7, PFKP, PHYH, PIP4K2A, PITRM1, PITX3, PLAU, PLCE1, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPP2R2D, PPRC1, PRF1, PRKCQ, PRLHR, PSD, PTCHD3, PTER, PTF1A, PYROXD2, RASSF4, RBM17, RBM20, RET, RGR, RPP30, RUFY2, SEC23IP, SEC31B, SEMA4G, SFTPA1, SFTPA2, SH3PXD2A, SLC29A3, SLC39A12, SLIT1, SMC3, SORBS1, SORCS1, SORCS3, SPRN, STOX1, SUFU, SVIL, SYNPO2L, SYT15, TACC2, TAF3, TBATA, TET1, TEX36, TLL2, TM9SF3, TSPAN15, TTC40, TUBB8, TUBGCP2, TYSND1, UNC5B, USP54, UTF1, VCL, VSTM4, WDFY4, WDR11, WDR37, ZFYVE27, ZMYND11, ZNF248, ZNF365, ZNF37A, ZSWIM8,

+ Genes associated with diseases 78

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C4, ALDH18A1, ANK3, ANKRD26, ANXA11, BAG3, BICC1, BLNK, BMPR1A, CDH23, CDHR1, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, EGR2, ERCC6, ERLIN1, FGFR2, FRMD4A, GATA3, GDF2, HABP2, HK1, HPS1, HPS6, HPSE2, KAT6B, KCNMA1, LGI1, LIPA, LIPN, MAT1A, MBL2, MTPAP, MYO3A, MYPN, NFKB2, NHLRC2, OPTN, PAX2, PCDH15, PDE6C, PDSS1, PDZD7, PHYH, PITX3, PLAU, PLCE1, PRF1, PTF1A, RBM20, RET, RGR, SFTPA2, SLC29A3, SMC3, STOX1, SUFU, TUBB8, VCL, WDR11, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (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)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BICC1 {Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BMPR1A Juvenile polyposis syndrome, infantile form, 174900 (3)
Polyposis syndrome, hereditary mixed, 2, 610069 (3)
Polyposis, juvenile intestinal, 174900 (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)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHUK Cocoon syndrome, 613630 (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)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
CYP2C9 Tolbutamide poor metabolizer (3)
Warfarin sensitivity, 122700 (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)
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)
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)
FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)
GDF2 Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)
HABP2 {Venous thromboembolism, susceptibility to}, 188050 (3)
{?Thyroid cancer, nonmedullary, 5}, 616535 (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)
HPS6 Hermansky-Pudlak syndrome 6, 614075 (3)
HPSE2 Urofacial syndrome 1, 236730 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (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)
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)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (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)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2 FINCA syndrome, 618278 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (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)
PDSS1 Coenzyme Q10 deficiency, primary, 2, 614651 (3)
PDZD7 Deafness, autosomal recessive 57, 618003 (3)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PHYH Refsum disease, 266500 (3)
PITX3 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, autosomal recessive, 610623 (3)
PLAU Quebec platelet disorder, 601709 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (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)
RGR Retinitis pigmentosa 44, 613769 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (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)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ADRB1, ALDH18A1, ANKRD26, BAG3, BICC1, BLNK, BMPR1A, CDH23, CDHR1, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP2C19, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, EGR2, ERCC6, ERLIN1, FGFR2, FRMD4A, GATA3, GDF2, HABP2, HK1, HPS1, HPS6, HPSE2, KAT6B, KCNMA1, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MTPAP, MYO3A, MYPN, NFKB2, OPTN, PAX2, PCDH15, PDE6C, PDSS1, PDZD7, PHYH, PITX3, PLAU, PLCE1, PRF1, PTF1A, RBM20, RET, RGR, SFTPA2, SLC29A3, SMC3, SUFU, TUBB8, VCL, WDR11, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
ALDH18A1 Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
ANKRD26 Thrombocytopenia 2
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BICC1 Renal dysplasia, cystic, susceptibility to
BLNK Agammaglobulinemia 4
BMPR1A Polyposis syndrome, hereditary mixed, 2
Polyposis, juvenile intestinal
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
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CHUK Cocoon syndrome
CNNM2 Hypomagnesemia 6 ,renal
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COX15 Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN Megaloblastic anemia-1, Finnish type
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP2C19 Drug metabolism, CYP2C19-related
CYP2C8 Rhabdomyolysis, cerivastatin-induced
CYP2C9 Drug metabolism, CYP2C9-related
DCLRE1C Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
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
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
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
GATA3 Hypoparathyroidism, sensorineural deafness, and renal dysplasia
GDF2 Hereditary hemorrhagic telangiectasia, type 5
HABP2 Thyroid cancer, nonmedullary 5
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPS1 Hermansky-Pudlak syndrome 1
HPS6 Hermansky-Pudlak syndrome 6
HPSE2 Ochoa syndrome
Urofacial syndrome 1
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
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
MTPAP Spastic ataxia 4, autosomal recessive
MYO3A Deafness, autosomal recessive 30
MYPN Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
NFKB2 Immunodeficiency, common variable, 10
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAX2 Isolated renal hypoplasia
Papillorenal syndrome
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PDE6C Cone dystrophy 4
PDSS1 Coenzyme Q10 deficiency 2
PDZD7 Usher syndrome, type IIC
PHYH Refsum disease
PITX3 Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar 4, syndromic
Anterior segment mesenchymal dysgenesis
PLAU Quebec platelet disorder
PLCE1 Nephrotic syndrome, type 3
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
RGR Retinitis pigmentosa 44
SFTPA2 Pulmonary fibrosis, idiopathic
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
SUFU Medulloblastoma
Basal cell nevus 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
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 1018
Number of Genes: 227

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 12ac02301-1_s1 genome 10 rs2273697
dbSNP Clinvar 		101563815 956.58 G A PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.18650 0.18650 0.19214 0.15 0.04 None None None None None None ABCC2|0.186653982|38.2%
View 12ac02301-1_s1 genome 10 rs927344
dbSNP Clinvar 		101544447 2583.63 A T PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.99461 0.99460 0.00654 1.00 0.00 None None None None None None ABCC2|0.186653982|38.2%
View 12ac02301-1_s1 genome 10 rs3740066
dbSNP Clinvar 		101604207 1190.8 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.33354 None None None None None None ABCC2|0.186653982|38.2%

ACADSB
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 12ac02301-1_s1 genome 10 rs1140591
dbSNP Clinvar 		124800853 565.21 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.22784 0.22780 0.22813 None None None None None None ACADSB|0.041043879|65.42%

ACBD5
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 12ac02301-1_s1 genome 10 rs10764690
dbSNP Clinvar 		27508758 614.61 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.39382 None None None None None None ACBD5|0.116795914|47.98%

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 12ac02301-1_s1 genome 10 rs1278279
dbSNP Clinvar 		127753478 2165.52 G A PASS 0/1 187 SYNONYMOUS_CODING LOW None 0.30272 0.30270 0.25427 None None None None None None ADAM12|0.075293986|56.23%
View 12ac02301-1_s1 genome 10 rs3740199
dbSNP Clinvar 		128019025 1883.05 C G PASS 1/1 67 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%
View 12ac02301-1_s1 genome 10 rs2279091
dbSNP Clinvar 		127753388 2353.6 C T PASS 0/1 196 SYNONYMOUS_CODING LOW None 0.07548 0.07548 0.09920 None None None None None None ADAM12|0.075293986|56.23%
View 12ac02301-1_s1 genome 10 rs2292692
dbSNP Clinvar 		127737930 2173.24 G A PASS 0/1 181 SYNONYMOUS_CODING LOW None 0.12340 0.12340 0.13248 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 12ac02301-1_s1 genome 10 rs3008326
dbSNP Clinvar 		135087521 14.92 G A LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.72424 0.72420 0.28998 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 12ac02301-1_s1 genome 10 . 72434675 7.08 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.67 0.26 None None None None None None ADAMTS14|0.04385867|64.56%
View 12ac02301-1_s1 genome 10 rs10999500
dbSNP Clinvar 		72500863 9.8 C G LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.66713 0.66710 0.38190 None None None None None None ADAMTS14|0.04385867|64.56%

ADARB2
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 12ac02301-1_s1 genome 10 . 1230978 9.8 G T LowGQ;LowGQX;SB 1/1 1 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ADARB2|0.14627916|43.56%
View 12ac02301-1_s1 genome 10 rs2271275
dbSNP Clinvar 		1230968 9.8 C T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.54313 0.54310 0.43947 0.25 0.02 None None None None None None ADARB2|0.14627916|43.56%

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 12ac02301-1_s1 genome 10 rs1801253
dbSNP Clinvar 		115805056 1967.68 G C PASS 1/1 67 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 12ac02301-1_s1 genome 10 . 116073787 7.08 T G LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.81 None None None None None None AFAP1L2|0.092781823|52.66%
View 12ac02301-1_s1 genome 10 rs3813722
dbSNP Clinvar 		116073696 7.08 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.58486 0.58490 0.42019 None None None None None None AFAP1L2|0.092781823|52.66%

AGAP5
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 12ac02301-1_s1 genome 10 rs3957125
dbSNP Clinvar 		75434641 14.9 G A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.00 None None None None None None AGAP5|0.009639275|81.14%

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 12ac02301-1_s1 genome 10 rs61850064
dbSNP Clinvar 		51465552 7.08 A T LowGQ;LowGQX;SB 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None AGAP7P|0.001668593|92.02%

AKR1C1
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 12ac02301-1_s1 genome 10 rs1138600
dbSNP Clinvar 		5010572 1598.64 A G LowMQ 1/1 173 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

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 12ac02301-1_s1 genome 10 rs4880718
dbSNP Clinvar 		5255025 3915.51 A G PASS 1/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%
View 12ac02301-1_s1 genome 10 rs17306779
dbSNP Clinvar 		5242164 2980.29 A G PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.16514 0.16510 0.18853 None None None None None None AKR1C4|0.002829069|88.97%
View 12ac02301-1_s1 genome 10 rs3829125
dbSNP Clinvar 		5247784 945.61 C G LowGQ;LowGQX 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.10284 0.10280 0.11433 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%
View 12ac02301-1_s1 genome 10 rs17134592
dbSNP Clinvar 		5260682 1896.39 C G PASS 1/1 75 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10244 0.10240 0.11426 0.25 0.00 None None None None None None AKR1C4|0.002829069|88.97%

AL359878.1
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 12ac02301-1_s1 genome 10 . 1018861 14.9 T C LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.15 None None None None None None None

ALDH18A1
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 12ac02301-1_s1 genome 10 rs2275272
dbSNP Clinvar 		97388162 583.13 G A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.07169 0.07169 0.10118 0.07 0.75 None None None None None None ALDH18A1|0.458870791|17.74%

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 12ac02301-1_s1 genome 10 rs2297979
dbSNP Clinvar 		61965625 963.01 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.18176 None None None None None None ANK3|0.919303788|3%
View 12ac02301-1_s1 genome 10 rs3750800
dbSNP Clinvar 		61868716 1530.21 C A PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.17911 0.17910 0.23958 None None None None None None ANK3|0.919303788|3%
View 12ac02301-1_s1 genome 10 rs71495633
dbSNP Clinvar 		62029934 579.49 G C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.01558 0.01558 0.11210 None None None None None None ANK3|0.919303788|3%

ANKRD26
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 12ac02301-1_s1 genome 10 rs7897309
dbSNP Clinvar 		27389197 1241.06 T C PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.94469 0.94470 0.10655 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%
View 12ac02301-1_s1 genome 10 rs2297145
dbSNP Clinvar 		27381349 1883.41 T C PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.34665 0.34660 0.21011 None None None None None None ANKRD26|0.003195391|88.32%
View 12ac02301-1_s1 genome 10 rs10829163
dbSNP Clinvar 		27317840 1269.34 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.31729 0.31730 0.17227 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%
View 12ac02301-1_s1 genome 10 rs2274741
dbSNP Clinvar 		27303605 2592.24 A T PASS 0/1 222 NON_SYNONYMOUS_CODING MODERATE None 0.31729 0.31730 0.17173 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%

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 12ac02301-1_s1 genome 10 rs1049550
dbSNP Clinvar 		81926702 1879.49 G A PASS 1/1 84 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%

ARHGAP12
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 12ac02301-1_s1 genome 10 rs2808100
dbSNP Clinvar 		32120678 7.08 C T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.24181 0.24180 0.17105 None None None None None None ARHGAP12|0.284417118|28.76%

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 12ac02301-1_s1 genome 10 . 24874594 14.91 T A LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.16 0.08 None None None None None None ARHGAP21|0.073197055|56.74%
View 12ac02301-1_s1 genome 10 . 24873638 9.8 G T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None ARHGAP21|0.073197055|56.74%

ASAH2C
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 12ac02301-1_s1 genome 10 rs3739968
dbSNP Clinvar 		48003992 6836.39 C T PASS 1/1 262 NON_SYNONYMOUS_CODING MODERATE None 0.34665 0.34660 1.00 0.00 None None None None None None ASAH2B|0.008556304|82.12%
View 12ac02301-1_s1 genome 10 rs993869
dbSNP Clinvar 		48029324 195.38 A C LowGQ;LowGQX;LowMQ;SB 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ASAH2B|0.008556304|82.12%

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 12ac02301-1_s1 genome 10 rs10885721
dbSNP Clinvar 		117228794 2008.25 A G PASS 0/1 179 SYNONYMOUS_CODING LOW None 0.34445 0.34440 0.45552 None None None None None None ATRNL1|0.785284373|6.21%
View 12ac02301-1_s1 genome 10 rs1953758
dbSNP Clinvar 		117075175 5791.31 G A PASS 1/1 218 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 12ac02301-1_s1 genome 10 rs2254619
dbSNP Clinvar 		117486763 1855.48 G T PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.20108 0.20110 0.31893 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 12ac02301-1_s1 genome 10 rs196295
dbSNP Clinvar 		121436362 5785.73 A G PASS 1/1 223 SYNONYMOUS_CODING LOW None 0.70647 0.70650 0.22966 None None None None None None BAG3|0.07885075|55.47%
View 12ac02301-1_s1 genome 10 rs2234962
dbSNP Clinvar 		121429633 346.73 T C SB 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.09645 0.09645 0.15112 0.00 0.93 None None None None None None BAG3|0.07885075|55.47%

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 12ac02301-1_s1 genome 10 rs4344442
dbSNP Clinvar 		60577393 2022.06 T C PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.73742 0.73740 0.26203 None None None None None None BICC1|0.434919209|18.95%
View 12ac02301-1_s1 genome 10 rs4948550
dbSNP Clinvar 		60588553 961.89 T C PASS 0/1 100 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%
View 12ac02301-1_s1 genome 10 rs9416746
dbSNP Clinvar 		60573753 1501.61 G T PASS 0/1 146 None None None 0.74661 0.74660 0.24881 0.11 0.00 None None None None None None BICC1|0.434919209|18.95%

BLNK
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 12ac02301-1_s1 genome 10 rs727852
dbSNP Clinvar 		97990583 1578.5 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.46126 0.46130 0.44180 None None None None None None BLNK|0.20887815|35.7%

BLOC1S2
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 12ac02301-1_s1 genome 10 . 102039948 14.91 G T LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None BLOC1S2|0.247502271|31.78%

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 12ac02301-1_s1 genome 10 rs11528010
dbSNP Clinvar 		88635779 1254.33 C A PASS 1/1 45 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%

C10orf11
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 12ac02301-1_s1 genome 10 rs1898071
dbSNP Clinvar 		77807027 877.72 T C PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.29713 0.29710 0.45018 None None None None None None C10orf11|0.997320506|0.63%

C10orf12
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 12ac02301-1_s1 genome 10 . 98743374 14.92 G T LowGQ;LowGQX 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.96 None None None None None None C10orf12|0.046517543|63.74%

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 12ac02301-1_s1 genome 10 rs1052152
dbSNP Clinvar 		71392692 14.89 T C LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.71106 0.71110 0.34676 None None None None None None C10orf35|0.031164979|68.92%

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 12ac02301-1_s1 genome 10 rs1414548
dbSNP Clinvar 		33018351 14.91 G C LowGQ;LowGQX 1/1 2 SYNONYMOUS_CODING LOW None 0.91653 0.91650 0.08685 None None None None None None None

C10orf71
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 12ac02301-1_s1 genome 10 rs7093235
dbSNP Clinvar 		50531604 9.8 T C LowGQ;LowGQX;SB 1/1 2 SYNONYMOUS_CODING LOW None 0.95707 0.95710 0.03954 None None None None None None C10orf71|0.00488492|85.95%

C10orf90
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 12ac02301-1_s1 genome 10 rs762069472
dbSNP Clinvar 		128193514 4.97 C A LowGQX;SB 0/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.26 None None None None None None C10orf90|0.002475127|89.76%

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 12ac02301-1_s1 genome 10 rs4918016
dbSNP Clinvar 		105218254 2059.34 C T PASS 0/1 175 SYNONYMOUS_CODING LOW None 0.30371 0.30370 0.28291 None None None None None None CALHM1|0.140063286|44.38%
View 12ac02301-1_s1 genome 10 rs2986017
dbSNP Clinvar 		105218252 5356.71 A G PASS 1/1 174 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%
View 12ac02301-1_s1 genome 10 rs2986018
dbSNP Clinvar 		105218359 4291.95 T C PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.88478 0.88480 0.18169 None None None None None None CALHM1|0.140063286|44.38%

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 12ac02301-1_s1 genome 10 . 135141296 9.3 C A LowGQX 0/1 3 None None None 0.00 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 12ac02301-1_s1 genome 10 . 75634214 9.3 G T LowGQX 0/1 4 SYNONYMOUS_CODING LOW None 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 12ac02301-1_s1 genome 10 . 70481388 7.08 C A LowGQ;LowGQX;SB 1/1 2 None None None 0.00 None None None None None None CCAR1|0.615509188|11.27%
View 12ac02301-1_s1 genome 10 rs1300253
dbSNP Clinvar 		70502288 9.8 G A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None 0.86142 0.86140 0.11887 None None None None None None CCAR1|0.615509188|11.27%

CDC123
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 12ac02301-1_s1 genome 10 . 12238280 9.8 C A LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None CDC123|0.66980596|9.38%

CDH23
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 12ac02301-1_s1 genome 10 rs3802719
dbSNP Clinvar 		73270982 2031.73 G A PASS 1/1 67 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.72524 0.72520 0.26035 0.65 0.00 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs3802720
dbSNP Clinvar 		73270906 4784.01 T C PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.73463 0.73460 0.25040 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs2305209
dbSNP Clinvar 		73406504 336.08 T C SB 0/1 25 None None None 0.12061 0.12060 0.14979 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs3752752
dbSNP Clinvar 		73455201 3438.4 T C PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.55451 0.55450 0.33122 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs3752751
dbSNP Clinvar 		73455273 1818.08 T C PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.55391 0.55390 0.33060 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs1227065
dbSNP Clinvar 		73492079 3197.33 A G PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.78215 0.78210 0.18710 1.00 0.00 None None None None None None CDH23|0.499757104|15.83%,C10orf105|0.03223183|68.5%
View 12ac02301-1_s1 genome 10 rs1227051
dbSNP Clinvar 		73501556 2345.11 G A PASS 1/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.72883 0.72880 0.25892 1.00 0.00 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs11592462
dbSNP Clinvar 		73550117 1115.29 C G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.34525 0.34520 0.41443 0.46 0.10 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs11000009
dbSNP Clinvar 		73569749 892.06 C T PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.08087 0.08087 0.11600 None None None None None None CDH23|0.499757104|15.83%
View 12ac02301-1_s1 genome 10 rs55717455
dbSNP Clinvar 		73574873 1391.0 C T PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.00344 None None None None None None CDH23|0.499757104|15.83%

CDHR1
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 12ac02301-1_s1 genome 10 rs4933975
dbSNP Clinvar 		85960395 816.65 A G PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.51597 0.51600 0.47509 None None None None None None CDHR1|0.082182972|54.74%
View 12ac02301-1_s1 genome 10 rs4244947
dbSNP Clinvar 		85978939 1052.96 G A PASS 0/1 69 None None None 0.55411 0.55410 None None None None None None CDHR1|0.082182972|54.74%
View 12ac02301-1_s1 genome 10 rs12781048
dbSNP Clinvar 		85956268 399.39 C A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.01937 0.01937 0.02768 0.59 0.24 None None None None None None CDHR1|0.082182972|54.74%
View 12ac02301-1_s1 genome 10 rs3814213
dbSNP Clinvar 		85974236 1002.7 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.57368 0.57370 0.39513 None None None None None None CDHR1|0.082182972|54.74%

CHAT
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 12ac02301-1_s1 genome 10 rs8178992
dbSNP Clinvar 		50863147 1537.67 T C PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.79353 0.79350 0.16016 None None None None None None CHAT|0.652613184|10%
View 12ac02301-1_s1 genome 10 rs1880676
dbSNP Clinvar 		50824117 2138.3 G A PASS 1/1 75 None None None 0.16154 0.16150 0.18757 0.43 0.01 None None None None None None CHAT|0.652613184|10%
View 12ac02301-1_s1 genome 10 rs3810950
dbSNP Clinvar 		50824619 2002.09 G A PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.16054 0.16050 0.18238 0.44 0.01 None None None None None None CHAT|0.652613184|10%
View 12ac02301-1_s1 genome 10 rs4838544
dbSNP Clinvar 		50856652 1620.4 G A PASS 1/1 65 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96645 0.96650 0.03898 1.00 0.01 None None None None None None CHAT|0.652613184|10%

CHST3
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 12ac02301-1_s1 genome 10 rs3740129
dbSNP Clinvar 		73767859 2020.12 G A PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.27396 0.27400 0.35810 0.51 0.02 2.88 0.00 0.09287 T None None None None CHST3|0.279116418|29.18%

CHUK
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 12ac02301-1_s1 genome 10 rs2230804
dbSNP Clinvar 		101977883 372.1 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.54573 0.54570 0.41696 0.31 0.00 None None None None None None CHUK|0.906139111|3.32%

CNNM1
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 12ac02301-1_s1 genome 10 . 101090605 9.8 G T LowGQ;LowGQX;SB 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None CNNM1|0.161637341|41.33%
View 12ac02301-1_s1 genome 10 . 101090603 9.8 G T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CNNM1|0.161637341|41.33%

CNNM2
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 12ac02301-1_s1 genome 10 rs943037
dbSNP Clinvar 		104835919 645.29 C T PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.15176 0.15180 0.07041 None None None None None None CNNM2|0.39099659|21.34%
View 12ac02301-1_s1 genome 10 rs2275271
dbSNP Clinvar 		104814162 1055.17 T C PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.43251 0.43250 0.39021 None None None None None None CNNM2|0.39099659|21.34%

COL13A1
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 12ac02301-1_s1 genome 10 . 71647215 7.08 C A LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.96 None None None None None None COL13A1|0.288371084|28.5%

COL17A1
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 12ac02301-1_s1 genome 10 rs2274100
dbSNP Clinvar 		105798872 1116.23 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.68151 0.68150 0.27749 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs2476958
dbSNP Clinvar 		105796819 1688.48 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs805708
dbSNP Clinvar 		105824333 477.64 G A LowGQ;LowGQX 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.56490 0.56490 0.41489 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs805701
dbSNP Clinvar 		105819956 2934.87 G A PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs805698
dbSNP Clinvar 		105816916 458.98 C T PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.81849 0.81850 0.15113 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs4918079
dbSNP Clinvar 		105801253 4023.71 G A PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.67392 0.67390 0.28187 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs805722
dbSNP Clinvar 		105810400 4309.61 T C PASS 1/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28095 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs2296219
dbSNP Clinvar 		105799216 2498.33 G T PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.68351 0.68350 0.28487 None None None None None None COL17A1|0.220252717|34.39%
View 12ac02301-1_s1 genome 10 rs17116350
dbSNP Clinvar 		105793750 2095.65 T C PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.25859 0.25860 0.29025 0.00 None None None None None None COL17A1|0.220252717|34.39%

COX15
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 12ac02301-1_s1 genome 10 rs2231687
dbSNP Clinvar 		101473218 2202.54 A G PASS 1/1 92 None None None 0.82708 0.82710 0.16516 0.43 0.00 None None None None None None CUTC|0.443820393|18.49%,COX15|0.173446292|39.87%

CTBP2
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 12ac02301-1_s1 genome 10 . 126686639 9.33 G T LowGQ;LowGQX 0/1 3 STOP_GAINED HIGH None None None None None None None CTBP2|0.585435328|12.33%