+ 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 274

Genes:
AC026703.1, ACOT12, ACSL6, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRA1B, ADRB2, AFAP1L1, AFF4, AGXT2, AHRR, ALDH7A1, ANKRD55, ANXA2R, ANXA6, AP3B1, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARSB, ATG12, ATP10B, BDP1, BHMT2, C5orf20, C5orf34, C5orf42, C5orf45, C5orf46, C5orf49, C5orf54, C5orf64, C5orf66, C7, C9, CAMLG, CAPSL, CARD6, CAST, CCDC125, CCDC69, CDC20B, CDC25C, CDH12, CDH18, CDHR2, CEP120, CEP72, CETN3, CHD1, CMBL, CMYA5, COL23A1, COMMD10, CSF1R, CTNNA1, CYFIP2, DDX41, DMGDH, DMXL1, DNAH5, DOCK2, EGFLAM, ELL2, ENC1, ERAP1, ERGIC1, EXOC3, F2R, FAM114A2, FAM134B, FAM170A, FAM81B, FASTKD3, FBN2, FBXL21, FCHSD1, FLT4, FNIP1, FOXI1, FSTL4, GABRA6, GABRB2, GABRP, GALNT10, GCNT4, GDF9, GFM2, GFPT2, GHR, GLRX, GM2A, GNPDA1, GPR98, GPRIN1, GPX3, GPX8, GRM6, GRXCR2, HARS, HAVCR1, HDAC3, HK3, HMGCS1, HMHB1, HMMR, HSD17B4, HSPA9, IL7R, IQGAP2, IRX4, ITGA1, ITGA2, JADE2, JAKMIP2, JMY, KCNN2, KDM3B, KIAA0141, LARS, LECT2, LNPEP, LOX, LYSMD3, MAN2A1, MAP3K1, MARVELD2, MAT2B, MCTP1, MEGF10, MFAP3, MIER3, MSX2, MTRR, MXD3, NAIP, NDST1, NIM1K, NIPAL4, NKX2-5, NLN, NMUR2, NNT, NOP16, NPR3, NSA2, NSD1, OR2V2, PAM, PARP8, PCDH1, PCDH12, PCDHA4, PCDHA6, PCDHAC2, PCDHB10, PCDHB11, PCDHB13, PCDHB7, PCDHGA10, PCDHGA11, PCDHGA2, PCDHGA3, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB2, PCDHGB3, PCDHGB6, PCDHGB7, PCDHGC3, PCSK1, PCYOX1L, PDCD6, PDE8B, PDGFRB, PDLIM7, PDZD2, PIK3R1, PJA2, PKD2L2, PLAC8L1, PLEKHG4B, PLK2, PPARGC1B, PPIC, PPWD1, PRELID1, PRLR, PRR16, PRRC1, PWWP2A, RAD17, RAI14, RANBP17, RARS, RASGEF1C, RASGRF2, RELL2, RICTOR, RPS14, RPS23, RUFY1, SCAMP1, SDHA, SEMA5A, SETD9, SH3PXD2B, SH3RF2, SH3TC2, SHROOM1, SKP2, SLC12A7, SLC25A2, SLC25A46, SLC25A48, SLC27A6, SLC6A18, SLC9A3, SLCO4C1, SLIT3, SMAD5, SNX18, SOX30, SPDL1, SPINK5, SPINK6, SPZ1, SQSTM1, SRA1, SRD5A1, SRFBP1, STK10, TAS2R1, TBC1D9B, TCOF1, TENM2, TGFBI, THBS4, THG1L, TIGD6, TMEM161B, TMEM171, TNIP1, TNPO1, TPPP, TRIM23, TRIM52, TRIM7, TRIO, TSSK1B, TTC23L, TTC37, UIMC1, VCAN, WDR41, WNT8A, WWC1, YTHDC2, ZCCHC9, ZFP2, ZFR, ZFYVE16, ZNF354B, ZNF354C, ZNF454, ZNF474, ZNF608,

+ Genes associated with diseases 76

Genes at Omim

ACSL6, ADAMTS2, ADRB2, AFF4, AGXT2, ALDH7A1, AP3B1, APC, ARHGAP26, ARSB, BDP1, C7, C9, CAST, CEP120, CHD1, CSF1R, CTNNA1, CYFIP2, DDX41, DMGDH, DNAH5, DOCK2, ERGIC1, FAM134B, FBN2, FLT4, FOXI1, GABRB2, GDF9, GHR, GM2A, GRM6, GRXCR2, HARS, HMMR, HSD17B4, HSPA9, IL7R, ITGA2, LARS, LOX, MAP3K1, MARVELD2, MEGF10, MSX2, MTRR, NDST1, NIPAL4, NKX2-5, NNT, NPR3, NSD1, PCDH12, PCSK1, PDE8B, PDGFRB, PIK3R1, PPARGC1B, PRLR, RARS, RPS14, RPS23, SDHA, SH3PXD2B, SH3TC2, SLC25A46, SLC9A3, SPINK5, SQSTM1, TCOF1, TGFBI, TRIO, TTC37, VCAN, WWC1,
ACSL6 Myelodysplastic syndrome (3)
Myelogenous leukemia, acute (3)
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to (3)
{Obesity, susceptibility to}, 601665 (3)
{Asthma, nocturnal, susceptibility to}, 600807 (3)
AFF4 CHOPS syndrome, 616368 (3)
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
ALDH7A1 Epilepsy, pyridoxine-dependent, 266100 (3)
AP3B1 Hermansky-Pudlak syndrome 2, 608233 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
BDP1 ?Deafness, autosomal recessive 112, 618257 (3)
C7 C7 deficiency, 610102 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CEP120 Joubert syndrome 31, 617761 (3)
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
CHD1 Pilarowski-Bjornsson syndrome, 617682 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CTNNA1 Macular dystrophy, patterned, 2, 608970 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
DDX41 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, 616871 (3)
DMGDH Dimethylglycine dehydrogenase deficiency, 605850 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DOCK2 Immunodeficiency 40, 616433 (3)
ERGIC1 ?Arthrogryposis multiplex congenita, neurogenic type, 208100 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
FOXI1 Enlarged vestibular aqueduct, 600791 (3)
GABRB2 Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
GDF9 ?Premature ovarian failure 14, 618014 (3)
GHR {Hypercholesterolemia, familial, modifier of}, 143890 (3)
Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone, 604271 (3)
Laron dwarfism, 262500 (3)
GM2A GM2-gangliosidosis, AB variant, 272750 (3)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
GRXCR2 ?Deafness, autosomal recessive 101, 615837 (3)
HARS Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)
Usher syndrome type 3B, 614504 (3)
HMMR {Breast cancer, susceptibility to}, 114480 (3)
HSD17B4 D-bifunctional protein deficiency, 261515 (3)
Perrault syndrome 1, 233400 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
LOX Aortic aneurysm, familial thoracic 10, 617168 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MARVELD2 Deafness, autosomal recessive 49, 610153 (3)
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MSX2 Craniosynostosis 2, 604757 (3)
Parietal foramina 1, 168500 (3)
Parietal foramina with cleidocranial dysplasia, 168550 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
NDST1 Mental retardation, autosomal recessive 46, 616116 (3)
NIPAL4 Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
NKX2-5 Atrial septal defect 7, with or without AV conduction defects, 108900 (3)
Hypoplastic left heart syndrome 2, 614435 (3)
Hypothyroidism, congenital nongoitrous, 5, 225250 (3)
Conotruncal heart malformations, variable, 217095 (3)
Tetralogy of Fallot, 187500 (3)
Ventricular septal defect 3, 614432 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NPR3 ?Hypertension, salt-resistant (1)
NSD1 Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1 {Obesity, susceptibility to, BMIQ12}, 612362 (3)
Obesity with impaired prohormone processing, 600955 (3)
PDE8B Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)
Striatal degeneration, autosomal dominant, 609161 (3)
PDGFRB Basal ganglia calcification, idiopathic, 4, 615007 (3)
Kosaki overgrowth syndrome, 616592 (3)
Myeloproliferative disorder with eosinophilia, 131440 (4)
Myofibromatosis, infantile, 1, 228550 (3)
Premature aging syndrome, Penttinen type, 601812 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PPARGC1B {Obesity, variation in}, 601665 (3)
PRLR Hyperprolactinemia, 615555 (3)
Multiple fibroadenomas of the breast, 615554 (3)
RARS Leukodystrophy, hypomyelinating, 9, 616140 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
RPS23 Brachycephaly, trichomegaly, and developmental delay, 617412 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SH3PXD2B Frank-ter Haar syndrome, 249420 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB, 616505 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SPINK5 Netherton syndrome, 256500 (3)
SQSTM1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)
Myopathy, distal, with rimmed vacuoles, 617158 (3)
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)
Paget disease of bone 3, 167250 (3)
TCOF1 Treacher Collins syndrome 1, 154500 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TTC37 Trichohepatoenteric syndrome 1, 222470 (3)
VCAN Wagner syndrome 1, 143200 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, AFF4, ALDH7A1, AP3B1, APC, ARSB, C7, C9, CAST, CEP120, CSF1R, CTNNA1, DDX41, DMGDH, DNAH5, DOCK2, FAM134B, FBN2, FLT4, FOXI1, GHR, GM2A, GRM6, GRXCR2, HARS, HSD17B4, HSPA9, IL7R, LARS, MAP3K1, MARVELD2, MEGF10, MSX2, MTRR, NDST1, NIPAL4, NKX2-5, NNT, NSD1, PCSK1, PDE8B, PDGFRB, PIK3R1, PRLR, RARS, SDHA, SH3PXD2B, SH3TC2, SLC25A46, SPINK5, SQSTM1, TCOF1, TGFBI, TTC37, VCAN,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to
AFF4 Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia (CHOPS syndrome)
ALDH7A1 Epilepsy, pyridoxine-dependent
AP3B1 Hermansky-Pudlak syndrome 2
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
CTNNA1 Hereditary diffuse gastric cancer, familial
DDX41 Familial myeloproliferative/lymphoproliferative neoplasms, multiple types, susceptibility to
DMGDH Dimethylglycine dehydrogenase deficiency
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DOCK2 Immunodeficiency 40
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
FLT4 Lymphedema, hereditary I (Milory disease)
FOXI1 Enlarged vestibular aqueduct
Pendred syndrome
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GM2A GM2-gangliosidosis, AB variant
GRM6 Night blindness, congenital stationary, type 1B
GRXCR2 Deafness, autosomal recessive 101
HARS Usher syndrome, type 3B
HSD17B4 Perrault syndrome
HSPA9 Anemia, sideroblastic 4
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
LARS Infantile liver failure syndrome 1
MAP3K1 46,XY sex reversal 6
MARVELD2 Deafness, autosomal recessive 49
MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MSX2 Craniosynostosis, type 2
Parietal foramina with cleidocranial dysplasia
Parietal foramina 1
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
NDST1 Mental retardation, autosomal recessive 46
NIPAL4 Ichthyosis, congenital, autosomal recessive
NKX2-5 Atrial septal defect 7, with or without AV conduction defects
Conotruncal heart malformations
Hypothyroidism, congenital nongoitrous, 5
NNT Glucocorticoid deficiency 4
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
PCSK1 Proprotein convertase 1/3 deficiency
PDE8B Pigmented nodular adrenocortical disease, primary, 3
PDGFRB Basal ganglia calcification, idiopathic, 4
Kosaki overgrowth syndrome
Myofibromatosis, infantile 1
Premature aging syndrome, Penttinen type
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PRLR Hyperprolactinemia
Multiple fibroadenomas of the breast
RARS Leukodystrophy, hypomyelinating 9
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SH3PXD2B Frank-ter Haar syndrome
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SLC25A46 Neuropathy, hereditary motor and sensory, type VIB
SPINK5 Netherton syndrome
SQSTM1 Paget disease of bone 3
TCOF1 Treacher Collins syndrome 1
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
TTC37 Trichohepatoenteric syndrome 1
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 1699
Number of Genes: 274

Export to: CSV

AC026703.1
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 miller 5 rs1173756
dbSNP Clinvar 		32789852 691.33 T C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.62600 0.62600 0.40643 None None None None None None NPR3|0.308047181|26.99%

ACOT12
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 miller 5 rs10371
dbSNP Clinvar 		80631642 275.86 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.12021 0.12020 0.16869 0.14 0.08 None None None None None None ACOT12|0.05645284|60.8%

ACSL6
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 miller 5 rs3043838
dbSNP Clinvar 		131324250 1272.96 C CTG PASS 1/1 28 None None None 0.51338 0.51340 0.37550 None None None None None None ACSL6|0.245327247|31.99%

ADAMTS12
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 miller 5 rs1530507
dbSNP Clinvar 		33751454 203.54 A T PASS 0/1 19 None None None 0.55691 0.55690 None None None None None None ADAMTS12|0.089192289|53.4%

ADAMTS16
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 miller 5 rs1019747
dbSNP Clinvar 		5146377 1015.59 T C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.49441 0.49440 0.44242 0.05 0.00 None None None None None None ADAMTS16|0.017832591|75.4%
View miller 5 rs11742341
dbSNP Clinvar 		5239921 553.99 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.14480 None None None None None None ADAMTS16|0.017832591|75.4%
View miller 5 rs6555335
dbSNP Clinvar 		5200281 187.98 C T PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.72524 0.72520 0.29491 None None None None None None ADAMTS16|0.017832591|75.4%
View miller 5 rs1863968
dbSNP Clinvar 		5146395 797.31 A G PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.48283 0.48280 0.44804 0.06 0.00 None None None None None None ADAMTS16|0.017832591|75.4%

ADAMTS19
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 miller 5 rs11749126
dbSNP Clinvar 		129040056 593.69 A T PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.07089 0.07089 0.13525 0.17 0.02 None None None None None None ADAMTS19|0.08763198|53.7%

ADAMTS2
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 miller 5 rs398829
dbSNP Clinvar 		178634672 1039.02 C T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.43191 0.43190 0.32516 0.48 0.00 None None None None None None ADAMTS2|0.325728261|25.76%
View miller 5 rs1054480
dbSNP Clinvar 		178540975 889.97 G A PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.26378 0.26380 0.22174 0.71 0.08 None None None None None None ADAMTS2|0.325728261|25.76%
View miller 5 rs2303644
dbSNP Clinvar 		178555045 519.24 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.17246 None None None None None None ADAMTS2|0.325728261|25.76%
View miller 5 rs2278221
dbSNP Clinvar 		178581859 114.85 G A PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.22844 0.22840 0.18691 None None None None None None ADAMTS2|0.325728261|25.76%
View miller 5 rs1972715
dbSNP Clinvar 		178562967 659.22 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.19649 0.19650 0.23997 None None None None None None ADAMTS2|0.325728261|25.76%
View miller 5 rs35445112
dbSNP Clinvar 		178555097 741.79 C T PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.02706 0.04 0.01 None None None None None None ADAMTS2|0.325728261|25.76%

ADCY2
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 miller 5 rs62342477
dbSNP Clinvar 		7743787 924.71 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.49854 None None None None None None ADCY2|0.904669113|3.35%

ADRA1B
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 miller 5 rs3729604
dbSNP Clinvar 		159344461 616.87 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.20188 0.20190 0.17108 None None None None None None ADRA1B|0.287986878|28.52%

ADRB2
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 miller 5 rs1042717
dbSNP Clinvar 		148206646 269.16 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.31470 0.31470 0.24174 None None None None None None ADRB2|0.766324239|6.71%
View miller 5 rs1042719
dbSNP Clinvar 		148207447 605.79 G C PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.37420 0.37420 0.30924 None None None None None None ADRB2|0.766324239|6.71%
View miller 5 rs1042720
dbSNP Clinvar 		148207633 548.84 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.50879 0.50880 0.39780 None None None None None None ADRB2|0.766324239|6.71%
View miller 5 rs1042718
dbSNP Clinvar 		148206917 1724.81 C A PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.29772 0.29770 0.22151 None None None None None None ADRB2|0.766324239|6.71%
View miller 5 rs1042714
dbSNP Clinvar 		148206473 536.54 G C PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.79573 0.79570 0.34000 0.47 0.01 None None None None None None ADRB2|0.766324239|6.71%

AFAP1L1
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 miller 5 rs139614291
dbSNP Clinvar 		148689617 273.8 C T PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.00038 None None None None None None AFAP1L1|0.18559894|38.29%
View miller 5 rs61734415
dbSNP Clinvar 		148680717 1032.69 G A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.00919 0.00919 0.03283 0.76 0.00 None None None None None None AFAP1L1|0.18559894|38.29%

AFF4
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 miller 5 rs739863
dbSNP Clinvar 		132232315 624.74 G A PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.00040 0.10520 0.11772 None None None None None None AFF4|0.608388604|11.5%

AGXT2
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 miller 5 rs2279651
dbSNP Clinvar 		35039437 921.45 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.39916 0.39920 0.46063 None None None None None None AGXT2|0.105323014|50.19%

AHRR
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 miller 5 rs61755969
dbSNP Clinvar 		422906 369.77 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.01877 0.01877 0.01765 None None None None None None AHRR|0.004021791|87%

ALDH7A1
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 miller 5 rs12514417
dbSNP Clinvar 		125887715 173.46 T G PASS 0/1 12 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09685 0.09685 0.07374 0.20 0.00 None None None None None None ALDH7A1|0.08379131|54.47%

ANKRD55
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 miller 5 rs321776
dbSNP Clinvar 		55407542 1000.57 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.20787 0.20790 0.21075 1.00 0.00 None None None None None None ANKRD55|0.097647762|51.59%
View miller 5 rs321775
dbSNP Clinvar 		55406952 793.63 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.21765 0.21770 0.21728 None None None None None None ANKRD55|0.097647762|51.59%

ANXA2R
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 miller 5 rs1054428
dbSNP Clinvar 		43039793 346.99 T C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.18351 0.18350 0.26695 0.48 0.81 None None None None None None ANXA2R|0.000047349|100%

ANXA6
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 miller 5 rs1133202
dbSNP Clinvar 		150489390 70.09 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.75819 0.75820 0.21680 None None None None None None ANXA6|0.284174792|28.78%

AP3B1
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 miller 5 rs17192146
dbSNP Clinvar 		77425099 315.0 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.03415 0.03415 0.04959 None None None None None None AP3B1|0.638758531|10.5%

APC
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 miller 5 rs2229995
dbSNP Clinvar 		112178795 707.95 G A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00839 0.00839 0.01453 1.00 0.07 None None None None None None APC|0.952088564|2.19%

AQPEP
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 miller 5 rs1445708
dbSNP Clinvar 		115298977 99.69 C T PASS 0/1 6 SYNONYMOUS_CODING LOW None 0.38918 0.38920 0.34532 None None None None None None None

ARAP3
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 miller 5 rs11167756
dbSNP Clinvar 		141059868 1397.59 T C PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.46566 0.46570 0.42826 None None None None None None ARAP3|0.158448394|41.8%
View miller 5 rs7703648
dbSNP Clinvar 		141036337 70.54 A G PASS 0/1 6 SYNONYMOUS_CODING LOW None 0.48143 0.48140 0.48808 None None None None None None ARAP3|0.158448394|41.8%
View miller 5 rs12514851
dbSNP Clinvar 		141051236 353.15 C T PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.18331 0.18330 0.14563 None None None None None None ARAP3|0.158448394|41.8%

ARHGAP26
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 miller 5 rs185200
dbSNP Clinvar 		142254679 747.52 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.67372 0.67370 0.46202 None None None None None None ARHGAP26|0.689373516|8.81%

ARHGEF28
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 miller 5 rs6453022
dbSNP Clinvar 		73076511 70.64 C A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.57788 0.57790 0.43045 0.67 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View miller 5 rs2973568
dbSNP Clinvar 		73144845 112.82 A G PASS 0/1 10 SYNONYMOUS_CODING LOW None 0.67632 0.67630 0.32967 None None None None None None ARHGEF28|0.15892968|41.74%
View miller 5 rs7714670
dbSNP Clinvar 		73072354 483.41 T C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.37041 0.37040 0.42150 0.37 0.00 None None None None None None ARHGEF28|0.15892968|41.74%

ARHGEF37
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 miller 5 rs4629585
dbSNP Clinvar 		149001551 375.28 A C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.43690 0.43690 0.36393 1.00 0.00 None None None None None None ARHGEF37|0.046932636|63.62%
View miller 5 rs9324624
dbSNP Clinvar 		149006640 1221.45 C T PASS 0/1 80 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37560 0.37560 0.47589 0.00 0.96 None None None None None None ARHGEF37|0.046932636|63.62%
View miller 5 rs1135093
dbSNP Clinvar 		149008521 166.63 A G PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28951 0.64 0.00 None None None None None None ARHGEF37|0.046932636|63.62%
View miller 5 rs1056993
dbSNP Clinvar 		149008403 96.69 A G PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.67213 0.67210 0.31076 None None None None None None ARHGEF37|0.046932636|63.62%
View miller 5 rs2400891
dbSNP Clinvar 		148989122 894.68 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.37720 0.37720 0.46349 None None None None None None ARHGEF37|0.046932636|63.62%

ARSB
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 miller 5 rs25413
dbSNP Clinvar 		78135201 481.32 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.25919 0.25920 0.29179 None None None None None None ARSB|0.08485524|54.24%
View miller 5 rs72762973
dbSNP Clinvar 		78181577 914.56 T C PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.02656 0.02656 0.05236 None None None None None None ARSB|0.08485524|54.24%
View miller 5 rs1065757
dbSNP Clinvar 		78181477 729.0 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.28554 0.28550 0.32470 0.06 0.89 None None None None None None ARSB|0.08485524|54.24%

ATG12
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 miller 5 rs74844425
dbSNP Clinvar 		115177207 1118.75 T C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.01378 0.01378 0.02038 0.31 0.00 None None None None None None ATG12|0.05925466|60.09%,AP3S1|0.603605843|11.68%

ATP10B
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 miller 5 rs958912
dbSNP Clinvar 		160097496 1818.74 A G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.86162 0.86160 0.14734 0.39 0.00 None None None None None None ATP10B|0.07854889|55.53%
View miller 5 rs958911
dbSNP Clinvar 		160097632 907.41 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.87760 0.87760 0.11247 None None None None None None ATP10B|0.07854889|55.53%
View miller 5 rs3812005
dbSNP Clinvar 		159992655 1050.0 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.35683 0.35680 0.36195 None None None None None None ATP10B|0.07854889|55.53%
View miller 5 rs3812006
dbSNP Clinvar 		159992754 949.72 T G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.39477 0.39480 0.39612 None None None None None None ATP10B|0.07854889|55.53%

BDP1
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 miller 5 rs182190
dbSNP Clinvar 		70840233 440.6 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.39896 0.39900 0.42819 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs715748
dbSNP Clinvar 		70806457 755.22 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.43970 0.43970 0.45004 0.25 0.00 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs1961760
dbSNP Clinvar 		70806649 560.14 T A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.43990 0.43990 0.45353 1.00 0.00 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs36009281
dbSNP Clinvar 		70798541 599.25 A G PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.03255 0.03255 0.06205 0.00 0.87 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs1698063
dbSNP Clinvar 		70809169 648.92 A G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.39956 0.39960 0.42969 0.15 0.00 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs469039
dbSNP Clinvar 		70849021 166.49 G T PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.43271 0.43270 0.44997 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs3761966
dbSNP Clinvar 		70800475 206.05 C T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.32368 0.32370 0.28322 0.32 0.00 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs3761967
dbSNP Clinvar 		70800538 244.87 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.43271 0.43270 0.44776 0.13 0.14 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs115185087
dbSNP Clinvar 		70858342 729.68 A G PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.03674 0.03674 0.03825 0.68 0.00 None None None None None None BDP1|0.020559057|73.91%
View miller 5 rs277941
dbSNP Clinvar 		70858194 181.55 C T PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.28482 None None None None None None BDP1|0.020559057|73.91%

BHMT2
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 miller 5 rs682985
dbSNP Clinvar 		78373431 727.32 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.48822 0.48820 0.49939 None None None None None None DMGDH|0.169846291|40.33%,BHMT2|0.048729707|63.04%

C5orf20
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 miller 5 rs12518053
dbSNP Clinvar 		134782414 1270.09 G T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.65176 0.65180 0.39543 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%
View miller 5 rs12520809
dbSNP Clinvar 		134782510 759.75 T C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.64517 0.64520 0.40128 0.98 0.00 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%
View miller 5 rs12520799
dbSNP Clinvar 		134782450 1318.02 T A PASS 0/1 113 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%
View miller 5 rs1031844
dbSNP Clinvar 		134782576 472.7 T G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.64537 0.64540 0.40404 1.00 0.00 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C5orf34
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 miller 5 rs7710628
dbSNP Clinvar 		43505993 581.21 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.40196 0.40200 0.47724 None None None None None None C5orf34|0.066451096|58.28%

C5orf42
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 miller 5 rs75589774
dbSNP Clinvar 		37182902 273.37 G A PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.09485 0.09485 0.10042 0.64 0.16 None None None None None None C5orf42|0.015292215|76.94%
View miller 5 rs10076911
dbSNP Clinvar 		37173930 623.76 A C PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.17272 0.17270 0.17577 0.22 0.00 None None None None None None C5orf42|0.015292215|76.94%

C5orf45
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 miller 5 rs248248
dbSNP Clinvar 		179267949 180.9 T C PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.84685 0.84680 0.22490 0.15 0.00 None None None None None None C5orf45|0.001770546|91.6%

C5orf46
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 miller 5 rs7722926
dbSNP Clinvar 		147286013 453.16 A T PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.29453 0.29450 0.27603 1.00 0.00 None None None None None None C5orf46|0.012829725|78.62%

C5orf49
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 miller 5 rs6883562
dbSNP Clinvar 		7835555 889.28 C G PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.17732 0.17730 0.23112 0.01 0.47 None None None None None None C5orf49|0.015418868|76.87%

C5orf54
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 miller 5 rs10515808
dbSNP Clinvar 		159820931 372.28 C A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.05172 0.05172 0.08127 0.78 0.00 None None None None None None ZBED8|0.027160632|70.8%

C5orf64
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 miller 5 rs436696
dbSNP Clinvar 		60999768 170.62 C T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.21845 0.21850 0.33781 0.05 0.00 None None None None None None C5orf64|0.022601305|72.88%

C5orf66
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 miller 5 rs868733
dbSNP Clinvar 		134678863 353.42 G A PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.03275 0.03275 0.00 0.69 None None None None None None H2AFY|0.468656435|17.22%

C7
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 miller 5 rs1063499
dbSNP Clinvar 		40955561 795.7 G C PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.48123 0.48120 0.47137 0.03 0.67 None None None None None None C7|0.030052736|69.38%

C9
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 miller 5 rs141600725
dbSNP Clinvar 		39311336 514.19 A T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00162 0.00 0.67 None None None None None None C9|0.0053859|85.32%

CAMLG
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 miller 5 rs12657663
dbSNP Clinvar 		134076812 594.17 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.14657 0.14660 0.07666 0.90 0.00 None None None None None None CAMLG|0.273444498|29.61%

CAPSL
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 miller 5 rs1445898
dbSNP Clinvar 		35910529 356.14 C T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.52536 0.52540 0.38759 0.67 0.00 None None None None None None CAPSL|0.18883888|37.96%

CARD6
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 miller 5 rs10512747
dbSNP Clinvar 		40841741 222.83 C T PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.04812 0.04812 0.08796 0.00 0.85 None None None None None None CARD6|0.004945721|85.87%

CAST
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 miller 5 rs754615
dbSNP Clinvar 		96086334 456.81 G C PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.29373 0.29370 0.36122 0.67 0.00 None None None None None None CAST|0.162925975|41.16%
View miller 5 rs26506
dbSNP Clinvar 		96079402 681.05 C T PASS 0/1 54 None None None 0.54153 0.54150 0.40105 None None None None None None CAST|0.162925975|41.16%

CCDC125
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 miller 5 rs10471774
dbSNP Clinvar 		68616331 276.12 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.26058 0.26060 0.33746 0.04 0.48 None None None None None None CCDC125|0.030337527|69.25%

CCDC69
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 miller 5 rs248427
dbSNP Clinvar 		150565008 1234.81 C T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.40895 0.40890 0.45564 1.00 0.00 None None None None None None CCDC69|0.035436657|67.33%

CDC20B
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 miller 5 rs444527
dbSNP Clinvar 		54410099 1075.2 G A PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.16953 0.16950 0.14701 0.01 0.84 None None None None None None CDC20B|0.017878528|75.36%
View miller 5 rs382402
dbSNP Clinvar 		54420799 1221.29 A C PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.17133 0.17130 0.14832 None None None None None None CDC20B|0.017878528|75.36%

CDC25C
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 miller 5 rs3734166
dbSNP Clinvar 		137665323 700.68 G A PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.39018 0.39020 0.33462 0.09 0.00 None None None None None None CDC25C|0.628040607|10.86%

CDH12
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 miller 5 rs4371716
dbSNP Clinvar 		22078584 693.25 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.36222 0.36220 0.36906 0.36 0.00 None None None None None None CDH12|0.569953447|12.98%

CDH18
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 miller 5 rs17285716
dbSNP Clinvar 		19591174 339.91 A G PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.09585 0.09585 0.13863 None None None None None None CDH18|0.543104598|14.09%

CDHR2
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 miller 5 rs41275281
dbSNP Clinvar 		176002542 298.58 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.12101 0.12100 0.07327 None None None None None None CDHR2|0.009151325|81.54%
View miller 5 rs4868660
dbSNP Clinvar 		176011889 212.38 G A PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.20427 0.20430 0.33692 None None None None None None CDHR2|0.009151325|81.54%
View miller 5 rs4242200
dbSNP Clinvar 		176002144 659.85 A C PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.84165 0.84170 0.11295 None None None None None None CDHR2|0.009151325|81.54%

CEP120
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 miller 5 rs1047437
dbSNP Clinvar 		122685727 369.58 C G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.18530 0.18530 0.15503 1.00 0.00 None None None None None None CEP120|0.184727315|38.38%

CEP72
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 miller 5 rs868649
dbSNP Clinvar 		640705 276.94 A G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.26877 0.26880 0.21713 0.82 0.00 None None None None None None CEP72|0.006647438|83.89%

CETN3
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 miller 5 rs4873
dbSNP Clinvar 		89703641 223.66 C G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.18530 0.18530 0.20982 0.44 0.00 None None None None None None CETN3|0.796444114|5.94%

CHD1
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 miller 5 rs138635992
dbSNP Clinvar 		98192164 496.46 AAGG A PASS 0/1 26 CODON_DELETION MODERATE None 0.21266 0.21270 0.29454 None None None None None None CHD1|0.573996389|12.85%