+ 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 470

Genes:
ABLIM3, AC005609.1, AC008443.1, AC008948.1, AC136604.1, AC138517.1, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADCY2, ADRA1B, ADRB2, AGXT2, AHRR, ANKDD1B, ANKH, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, APBB3, APC, AQPEP, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARSB, ARSI, ATG10, ATP10B, B4GALT7, BDP1, BHMT2, BRD8, BRD9, BRIX1, BTNL3, BTNL8, BTNL9, C5orf17, C5orf27, C5orf34, C5orf38, C5orf42, C5orf45, C5orf46, C5orf52, C5orf54, C5orf56, C5orf60, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CAST, CCDC125, CCDC69, CCNJL, CCT5, CD180, CDC20B, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDX1, CEP120, CHD1, CHSY3, CMBL, CMYA5, CNOT6, COL23A1, COL4A3BP, COMMD10, CSF1R, CSF2, CTD-2215E18.1, CTD-2228K2.5, CTXN3, CWC27, CYFIP2, DBN1, DCP2, DDX4, DDX41, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DND1, DOCK2, DOK3, DRD1, DROSHA, DUSP1, EFCAB9, EGFLAM, ENC1, EPB41L4A, EPB41L4A-AS2, ERAP1, ERAP2, ERBB2IP, ERGIC1, EXOC3, F12, F2RL1, FABP6, FAM114A2, FAM134B, FAM13B, FAM151B, FAM153A, FAM159B, FAM170A, FAM173B, FAM174A, FAM193B, FAM81B, FASTKD3, FAT2, FBN2, FBXL21, FBXO38, FCHO2, FCHSD1, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FSTL4, FTMT, FYB, GABRA1, GABRA6, GABRG2, GABRP, GCNT4, GDF9, GEMIN5, GFPT2, GHR, GLRX, GNB2L1, GPBP1, GPR150, GPR98, GPRIN1, GPX3, GPX8, GRAMD3, GRIA1, GRK6, GRM6, GRXCR2, GZMA, HAPLN1, HAVCR1, HAVCR2, HDAC3, HEXB, HK3, HMGCS1, HMGXB3, HMHB1, HMMR, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR4, IL13, IL3, IL31RA, IL7R, IL9, IPO11, IQGAP2, IRX1, IRX4, ISL1, ISOC1, ITGA1, JADE2, JAKMIP2, JMY, KCNIP1, KCNN2, KDM3B, KIAA0141, KIAA0825, KIAA0947, KIF4B, KLHL3, LARS, LCP2, LHFPL2, LIFR, LMBRD2, LMNB1, LPCAT1, LYSMD3, MAML1, MAN2A1, MAP1B, MAP3K1, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEGF10, MFAP3, MGAT1, MIER3, MROH2B, MRPS27, MRPS30, MSH3, MSX2, MTMR12, MTRR, MXD3, MYO10, MYOT, MYOZ3, N4BP3, NAIP, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKD2, NKX2-5, NLN, NMUR2, NNT, NOP16, NR3C1, NRG2, NSD1, NSUN2, NUDT12, NUP155, OR2V1, OR2V2, OR2Y1, OSMR, OTP, PAPD7, PARP8, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB3, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHGA1, PCDHGA10, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC5, PCSK1, PDCD6, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PIK3R1, PITX1, PJA2, PKD2L2, PLEKHG4B, PLK2, POC5, POLK, POU4F3, PPWD1, PRDM6, PRDM9, PRELID1, PROB1, PROP1, PRR16, PSD2, RAD1, RAD17, RAI14, RANBP3L, RAPGEF6, RASGEF1C, RASGRF2, RBM27, REEP5, RELL2, RGMB, RGS7BP, RICTOR, RIOK2, RNF130, RNF44, RP11-45H22.3, RPS23, RUFY1, SCAMP1, SEMA5A, SEMA6A, SEPT8, SETD9, SFXN1, SH3RF2, SH3TC2, SHROOM1, SIL1, SLC12A7, SLC22A4, SLC23A1, SLC25A2, SLC25A48, SLC26A2, SLC27A6, SLC34A1, SLC36A2, SLC36A3, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLIT3, SLU7, SMAD5, SNCAIP, SNX18, SOWAHA, SOX30, SPATA24, SPDL1, SPEF2, SPINK5, SPINK6, SPINK9, SQSTM1, SRA1, SRD5A1, SREK1IP1, SRFBP1, SSBP2, STK10, STK32A, SV2C, TCERG1, TCOF1, TENM2, TERT, TGFBI, THG1L, TIGD6, TIMD4, TMCO6, TMEM161B, TMEM171, TMEM173, TNIP1, TNPO1, TPPP, TRIM36, TRIM52, TRIO, TSPAN17, TTC23L, TXNDC15, UBTD2, UGT3A1, UIMC1, UTP15, VCAN, WDR36, WDR41, WDR55, WDR70, WWC1, XRCC4, YTHDC2, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZNF131, ZNF354B, ZNF454, ZNF474, ZNF608, ZRSR1, ZSWIM6,

+ Genes associated with diseases 111

Genes at Omim

ACSL6, ADAMTS2, ADRB2, AGXT2, ANKH, AP3B1, APC, ARHGAP26, ARSB, B4GALT7, BDP1, C6, C7, C9, CAMK2A, CAST, CCT5, CEP120, CHD1, COL4A3BP, CSF1R, CWC27, CYFIP2, DDX41, DMGDH, DNAH5, DNAJC21, DOCK2, ERGIC1, F12, FAM134B, FAT2, FBN2, FBXO38, FGFR4, FLT4, FOXI1, FYB, GABRA1, GABRG2, GDF9, GHR, GRM6, GRXCR2, HEXB, HMMR, HSD17B4, HSPA9, HSPB3, IL13, IL31RA, IL7R, KLHL3, LARS, LIFR, LMNB1, MAP3K1, MARVELD2, MATR3, MCC, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKX2-5, NNT, NR3C1, NSD1, NSUN2, NUP155, OSMR, PCDH12, PCSK1, PDE6A, PDE8B, PDGFRB, PIK3R1, PITX1, POU4F3, PRDM6, PROP1, RPS23, SH3TC2, SIL1, SLC22A4, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SLC9A3, SPINK5, SQSTM1, TCOF1, TERT, TGFBI, TMEM173, TRIM36, TRIO, VCAN, WDR36, WWC1, XRCC4, ZSWIM6,
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)
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (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)
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 (3)
BDP1 ?Deafness, autosomal recessive 112, 618257 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CAMK2A Mental retardation, autosomal dominant 53, 617798 (3)
?Mental retardation, autosomal recessive 63, 618095 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CEP120 Joubert syndrome 31, 617761 (3)
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
CHD1 Pilarowski-Bjornsson syndrome, 617682 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)
CWC27 Retinitis pigmentosa with or without skeletal anomalies, 250410 (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)
DNAJC21 Bone marrow failure syndrome 3, 617052 (3)
DOCK2 Immunodeficiency 40, 616433 (3)
ERGIC1 ?Arthrogryposis multiplex congenita, neurogenic type, 208100 (3)
F12 Factor XII deficiency, 234000 (3)
Angioedema, hereditary, type III, 610618 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
FAT2 Spinocerebellar ataxia 45, 617769 (3)
FBN2 Contractural arachnodactyly, congenital, 121050 (3)
Macular degeneration, early-onset, 616118 (3)
FBXO38 Neuronopathy, distal hereditary motor, type IID, 615575 (3)
FGFR4 {Cancer progression/metastasis} (3)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
FOXI1 Enlarged vestibular aqueduct, 600791 (3)
FYB Thrombocytopenia 3, 273900 (3)
GABRA1 Epileptic encephalopathy, early infantile, 19, 615744 (3)
{Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3)
{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3)
GABRG2 Febrile seizures, familial, 8, 611277 (3)
Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3)
{Epilepsy, childhood absence, susceptibility to, 2}, 607681 (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)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
GRXCR2 ?Deafness, autosomal recessive 101, 615837 (3)
HEXB Sandhoff disease, infantile, juvenile, and adult forms, 268800 (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)
HSPB3 ?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)
IL13 {Allergic rhinitis, susceptibility to}, 607154 (3)
{Asthma, susceptibility to}, 600807 (3)
IL31RA ?Amyloidosis, primary localized cutaneous, 2, 613955 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
KLHL3 Pseudohypoaldosteronism, type IID, 614495 (3)
LARS ?Infantile liver failure syndrome 1, 615438 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMNB1 Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MARVELD2 Deafness, autosomal recessive 49, 610153 (3)
MATR3 Amyotrophic lateral sclerosis 21, 606070 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (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)
MYOT Myopathy, myofibrillar, 3, 609200 (3)
Myopathy, spheroid body, 182920 (3)
NDST1 Mental retardation, autosomal recessive 46, 616116 (3)
NDUFAF2 Mitochondrial complex I deficiency, nuclear type 10, 618233 (3)
NDUFS4 Mitochondrial complex I deficiency, nuclear type 1, 252010 (3)
NDUFS6 Mitochondrial complex I deficiency, nuclear type 9, 618232 (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)
NR3C1 Glucocorticoid resistance, 615962 (3)
NSD1 Leukemia, acute myeloid, 601626 (1)
Sotos syndrome 1, 117550 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
NUP155 ?Atrial fibrillation 15, 615770 (3)
OSMR Amyloidosis, primary localized cutaneous, 1, 105250 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCSK1 {Obesity, susceptibility to, BMIQ12}, 612362 (3)
Obesity with impaired prohormone processing, 600955 (3)
PDE6A Retinitis pigmentosa 43, 613810 (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)
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Liebenberg syndrome, 186550 (4)
POU4F3 Deafness, autosomal dominant 15, 602459 (3)
PRDM6 Patent ductus arteriosus 3, 617039 (3)
PROP1 Pituitary hormone deficiency, combined, 2, 262600 (3)
RPS23 Brachycephaly, trichomegaly, and developmental delay, 617412 (3)
SH3TC2 Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Mononeuropathy of the median nerve, mild, 613353 (3)
SIL1 Marinesco-Sjogren syndrome, 248800 (3)
SLC22A4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
SLC26A2 Atelosteogenesis, type II, 256050 (3)
Achondrogenesis Ib, 600972 (3)
De la Chapelle dysplasia, 256050 (3)
Diastrophic dysplasia, 222600 (3)
Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)
Epiphyseal dysplasia, multiple, 4, 226900 (3)
SLC34A1 Hypercalcemia, infantile, 2, 616963 (3)
?Fanconi renotubular syndrome 2, 613388 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
SLC36A2 Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (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)
TERT {Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (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)
TMEM173 STING-associated vasculopathy, infantile-onset, 615934 (3)
TRIM36 ?Anencephaly, 206500 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
VCAN Wagner syndrome 1, 143200 (3)
WDR36 Glaucoma 1, open angle, G, 609887 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)
XRCC4 Short stature, microcephaly, and endocrine dysfunction, 616541 (3)
ZSWIM6 Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3)
Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

ADAMTS2, ADRB2, ANKH, AP3B1, APC, ARSB, B4GALT7, C6, C7, C9, CAST, CCT5, CEP120, COL4A3BP, CSF1R, DDX41, DMGDH, DNAH5, DOCK2, F12, FAM134B, FBN2, FBXO38, FLT4, FOXI1, GABRA1, GABRG2, GHR, GRM6, GRXCR2, HEXB, HSD17B4, HSPA9, HSPB3, IL31RA, IL7R, KLHL3, LARS, LIFR, LMNB1, MAP3K1, MARVELD2, MATR3, MCCC2, MEGF10, MSH3, MSX2, MTRR, MYOT, NDST1, NDUFAF2, NDUFS4, NDUFS6, NIPAL4, NKX2-5, NNT, NR3C1, NSD1, NUP155, OSMR, PCSK1, PDE6A, PDE8B, PDGFRB, PIK3R1, PITX1, POU4F3, PROP1, SH3TC2, SIL1, SLC26A2, SLC34A1, SLC36A2, SLC45A2, SLC6A19, SNCAIP, SPINK5, SQSTM1, TCOF1, TERT, TGFBI, TMEM173, VCAN, XRCC4, ZSWIM6,
ADAMTS2 Ehlers-Danlos syndrome, type VII
ADRB2 Beta-2-adrenoreceptor agonist, reduced response to
ANKH Craniometaphyseal dysplasia
Chondrocalcinosis 2
AP3B1 Hermansky-Pudlak syndrome 2
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
B4GALT7 Ehlers-Danlos syndrome with short stature and limb anomalies
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly
COL4A3BP Mental retardation, autosomal dominant 34
CSF1R Leukoencephalopathy, diffuse hereditary, with spheroids
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
F12 Angioedema, hereditary, type III
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
FBN2 Congenital contractural arachnodactyly (Beals syndrome)
FBXO38 Neuronopathy, distal hereditary motor, type IID
FLT4 Lymphedema, hereditary I (Milory disease)
FOXI1 Enlarged vestibular aqueduct
Pendred syndrome
GABRA1 Epilepsy, juvenile myoclonic, susceptibility to, 5
Epilepsy, childhood absence, susceptibility to, 4
Epileptic encephalopathy, early infantile 19
GABRG2 Dravet syndrome
Generalized epilepsy with febrile seizures plus, type 3
Familial febrile seizures 8
Epilepsy, childhood absence, susceptibility to, 2
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GRM6 Night blindness, congenital stationary, type 1B
GRXCR2 Deafness, autosomal recessive 101
HEXB Sandhoff disease
HSD17B4 Perrault syndrome
HSPA9 Anemia, sideroblastic 4
HSPB3 Neuronopathy, distal hereditary motor, type IIC
IL31RA Amyloidois, primary localized cutaneous, 2
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
KLHL3 Pseudohypoaldosteronism, type IID
LARS Infantile liver failure syndrome 1
LIFR Stuve-Wiedemann syndrome
LMNB1 Leukodystrophy, adult-onset, autosomal dominant
MAP3K1 46,XY sex reversal 6
MARVELD2 Deafness, autosomal recessive 49
MATR3 Amyotrophic lateral sclerosis 21
MCCC2 3-Methylcrotonyl-CoA carboxylase 2 deficiency
MEGF10 Myopathy, early-onset, areflexia, respiratory distress, and dysphagia
MSH3 Endometrial carcinoma
MSX2 Craniosynostosis, type 2
Parietal foramina with cleidocranial dysplasia
Parietal foramina 1
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYOT Myopathy, myofibrillar, 3
NDST1 Mental retardation, autosomal recessive 46
NDUFAF2 Mitochondrial complex I deficiency
Leigh syndrome
NDUFS4 Mitochondrial complex I deficiency
Leigh syndrome
NDUFS6 Mitochondrial complex I deficiency
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
NR3C1 Glucocorticoid resistance
NSD1 Sotos syndrome
Weaver syndrome
Beckwith-Wiedemann syndrome
NUP155 Atrial fibrillation 15
OSMR Amyloidosis, primary localized cutaneous, 1
PCSK1 Proprotein convertase 1/3 deficiency
PDE6A Retinitis pigmentosa 43
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
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
POU4F3 Deafness, autosomal dominant 15
PROP1 Pituitary hormone deficiency, combined, 2
SH3TC2 Charcot-Marie-Tooth disease, type 4C
Mononeuropathy of the median nerve, mild
SIL1 Marinesco-Sjogren syndrome
SLC26A2 Achondrogenesis, type IB
Atelosteogenesis II
De la Chapelle dysplasia
Diastrophic dysplasia
Epiphyseal dysplasia, multiple, 4
SLC34A1 Fanconi renotubular syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SLC36A2 Hyperglycinuria
Iminoglycinuria
Iminoglycinuria, digenic
SLC45A2 Oculocutaneous albinism, type IV
Skin/hair/eye pigmentation 5
SLC6A19 Hartnup disease
SNCAIP Parkinson disease
SPINK5 Netherton syndrome
SQSTM1 Paget disease of bone 3
TCOF1 Treacher Collins syndrome 1
TERT Aplastic anemia
Dyskeratosis congenita, autosomal dominant
Dyskeratosis congenita, autosomal recessive
Pulmonary fibrosis and/or bone marrow failure, telomere-related 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
TMEM173 STING-associated vasculopathy, infantile-onsent (SAVI)
VCAN Wagner syndrome 1
XRCC4 Short stature, microcephaly, and endocrine dysfunction
ZSWIM6 Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 6864
Number of Genes: 470

Export to: CSV

ABLIM3
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 combined sample_71.variant32 5 rs13362048
dbSNP Clinvar 		148578636 1773.9 T C PASS 0/1 71 None None None 0.52756 0.52760 0.12 0.00 None None None None None None ABLIM3|0.394992795|21.09%

AC005609.1
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 combined sample_71.variant32 5 rs11321479
dbSNP Clinvar 		140242451 1933.83 GC G PASS 1/1 227 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%
View combined sample_71.variant32 5 rs251369
dbSNP Clinvar 		140242479 1737.4 T A PASS 1/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.62760 0.62760 0.09 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

AC008443.1
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 combined sample_71.variant32 5 rs2545093
dbSNP Clinvar 		180682862 4472.57 G T PASS 0/1 374 NON_SYNONYMOUS_CODING MODERATE None 0.19169 0.19170 0.00 None None None None None None TRIM52|0.003462758|87.82%

AC008948.1
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 combined sample_71.variant32 5 rs149085489
dbSNP Clinvar 		101570503 2048.54 CT... C PASS 0/1 69 CODON_DELETION MODERATE None 0.40575 0.40580 None None None None None None SLCO4C1|0.038449749|66.31%

AC136604.1
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 combined sample_71.variant32 5 rs6882398
dbSNP Clinvar 		179078940 7665.69 T C PASS 1/1 442 SYNONYMOUS_CODING LOW None 0.95248 0.95250 None None None None None None None
View combined sample_71.variant32 5 rs113370076
dbSNP Clinvar 		179079104 1380.35 G A PASS 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.16194 0.16190 0.25 0.00 None None None None None None None

AC138517.1
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 combined sample_71.variant32 5 rs13153461
dbSNP Clinvar 		138852369 1137.49 G A PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.43431 0.43430 0.00 0.97 None None None None None None None

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 combined sample_71.variant32 5 rs10371
dbSNP Clinvar 		80631642 961.65 C T PASS 0/1 91 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 combined sample_71.variant32 5 rs3043838
dbSNP Clinvar 		131324250 1736.24 C CTG PASS 0/1 108 None None None 0.51338 0.51340 0.37550 None None None None None None ACSL6|0.245327247|31.99%

ACTBL2
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 combined sample_71.variant32 5 rs16886992
dbSNP Clinvar 		56777677 1361.88 G A PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.06849 0.06849 0.07958 None None None None None None ACTBL2|0.152729251|42.58%

ADAM19
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 combined sample_71.variant32 5 rs2287749
dbSNP Clinvar 		156918850 2359.06 C T PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.05312 0.05312 0.10541 0.02 0.48 None None None None None None ADAM19|0.121857186|47.16%
View combined sample_71.variant32 5 rs10067096
dbSNP Clinvar 		156917340 1304.3 A C PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.12041 0.12040 0.19660 0.30 0.12 None None None None None None ADAM19|0.121857186|47.16%

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 combined sample_71.variant32 5 rs25754
dbSNP Clinvar 		33535060 746.09 G A PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.59964 0.59960 0.46125 0.19 0.04 None None None None None None ADAMTS12|0.089192289|53.4%
View combined sample_71.variant32 5 rs3813474
dbSNP Clinvar 		33576602 767.89 A G PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.07720 0.56 0.00 None None None None None None ADAMTS12|0.089192289|53.4%
View combined sample_71.variant32 5 rs1530507
dbSNP Clinvar 		33751454 7775.45 A T PASS 1/1 205 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 combined sample_71.variant32 5 rs1863968
dbSNP Clinvar 		5146395 3259.32 A G PASS 1/1 127 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%
View combined sample_71.variant32 5 rs6555335
dbSNP Clinvar 		5200281 2839.34 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.72524 0.72520 0.29491 None None None None None None ADAMTS16|0.017832591|75.4%
View combined sample_71.variant32 5 rs11742341
dbSNP Clinvar 		5239921 2301.65 C T PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.14480 None None None None None None ADAMTS16|0.017832591|75.4%
View combined sample_71.variant32 5 rs11742370
dbSNP Clinvar 		5240002 1873.88 C A PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.11342 0.11340 0.14171 None None None None None None ADAMTS16|0.017832591|75.4%
View combined sample_71.variant32 5 rs2086310
dbSNP Clinvar 		5146335 997.8 C G PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.69549 0.69550 0.24077 1.00 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 combined sample_71.variant32 5 rs28630040
dbSNP Clinvar 		128844838 1035.16 A G PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.12740 0.12740 0.10549 None None None None None None ADAMTS19|0.08763198|53.7%
View combined sample_71.variant32 5 rs6595908
dbSNP Clinvar 		128863471 2686.19 A G PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00392 1.00 0.00 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 combined sample_71.variant32 5 rs1972715
dbSNP Clinvar 		178562967 2162.74 G A PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.19649 0.19650 0.23997 None None None None None None ADAMTS2|0.325728261|25.76%
View combined sample_71.variant32 5 rs66565583
dbSNP Clinvar 		178634547 765.35 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.13578 0.13580 0.17361 None None None None None None ADAMTS2|0.325728261|25.76%
View combined sample_71.variant32 5 rs423552
dbSNP Clinvar 		178634619 3711.81 C T PASS 1/1 237 SYNONYMOUS_CODING LOW None 0.92452 0.92450 0.08473 None None None None None None ADAMTS2|0.325728261|25.76%
View combined sample_71.variant32 5 rs2303644
dbSNP Clinvar 		178555045 1583.21 G A PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.12999 0.13000 0.17246 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 combined sample_71.variant32 5 rs52827085
dbSNP Clinvar 		7757647 827.29 C G PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.01398 0.01398 0.04075 0.18 0.01 None None None None None None ADCY2|0.904669113|3.35%
View combined sample_71.variant32 5 rs2290910
dbSNP Clinvar 		7802363 878.23 C T PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.23343 0.23340 0.22828 None None None None None None ADCY2|0.904669113|3.35%
View combined sample_71.variant32 5 rs62342477
dbSNP Clinvar 		7743787 1123.17 C T PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.32368 0.32370 0.49854 None None None None None None ADCY2|0.904669113|3.35%
View combined sample_71.variant32 5 rs13166360
dbSNP Clinvar 		7520881 531.61 G T PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.09165 0.09165 0.19445 0.05 0.26 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 combined sample_71.variant32 5 rs2229181
dbSNP Clinvar 		159344083 2174.53 C T PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.01398 0.01398 0.02714 None None None None None None ADRA1B|0.287986878|28.52%
View combined sample_71.variant32 5 rs3730284
dbSNP Clinvar 		159344446 1541.9 C T PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.01398 0.01398 0.02714 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 combined sample_71.variant32 5 rs1042713
dbSNP Clinvar 		148206440 1041.03 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.47564 0.47560 0.41489 0.17 0.03 None None None None None None ADRB2|0.766324239|6.71%
View combined sample_71.variant32 5 rs1042714
dbSNP Clinvar 		148206473 3967.09 G C PASS 0/1 146 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%

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 combined sample_71.variant32 5 rs17245714
dbSNP Clinvar 		34998894 869.23 G C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.04673 0.04673 0.05290 0.13 0.01 None None None None None None AGXT2|0.105323014|50.19%
View combined sample_71.variant32 5 rs466067
dbSNP Clinvar 		35010138 2964.9 A G PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.89457 0.89460 0.04198 None None None None None None AGXT2|0.105323014|50.19%
View combined sample_71.variant32 5 rs180749
dbSNP Clinvar 		35033605 1910.78 G A PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.87500 0.87500 0.05790 0.23 0.00 None None None None None None AGXT2|0.105323014|50.19%
View combined sample_71.variant32 5 rs2279651
dbSNP Clinvar 		35039437 1227.85 A G PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.39916 0.39920 0.46063 None None None None None None AGXT2|0.105323014|50.19%
View combined sample_71.variant32 5 rs37370
dbSNP Clinvar 		35039486 1395.21 C T PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.81050 0.81050 0.07220 0.36 0.00 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 combined sample_71.variant32 5 rs34453673
dbSNP Clinvar 		434722 1786.53 G C PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.15495 0.15500 0.26895 0.82 0.00 None None None None None None AHRR|0.004021791|87%
View combined sample_71.variant32 5 rs2292596
dbSNP Clinvar 		422955 571.15 C G PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.30247 0.19 0.06 None None None None None None AHRR|0.004021791|87%

ANKDD1B
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 combined sample_71.variant32 5 rs9332464
dbSNP Clinvar 		74921686 1779.27 G A PASS 1/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.32468 0.32470 1.00 0.00 None None None None None None ANKDD1B|0.036539802|66.95%
View combined sample_71.variant32 5 rs61164763
dbSNP Clinvar 		74907503 1862.78 G A PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.08626 0.08626 0.22 0.00 None None None None None None ANKDD1B|0.036539802|66.95%
View combined sample_71.variant32 5 rs34358
dbSNP Clinvar 		74965122 1272.26 G A PASS 0/1 105 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

ANKH
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 combined sample_71.variant32 5 rs17251667
dbSNP Clinvar 		14769103 1294.73 G A PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.12061 0.12060 0.14885 None None None None None None ANKH|0.170147079|40.3%

ANKRD31
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 combined sample_71.variant32 5 rs56174528
dbSNP Clinvar 		74400516 1303.87 G C PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.13359 0.13360 0.14696 0.12 0.05 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_71.variant32 5 rs1422699
dbSNP Clinvar 		74442410 1093.29 G A PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.58506 0.58510 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_71.variant32 5 rs6888707
dbSNP Clinvar 		74442920 1568.08 A G PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.48774 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_71.variant32 5 rs6893216
dbSNP Clinvar 		74442964 968.78 T C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.16893 0.16890 0.15506 0.12 0.03 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_71.variant32 5 rs1422698
dbSNP Clinvar 		74443132 2074.77 C T PASS 1/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.58506 0.58510 0.48795 1.00 0.00 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_71.variant32 5 rs10563854,rs796339850
dbSNP Clinvar 		74491715 2444.23 TTCA T PASS 1/1 132 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.58147 0.58150 0.49535 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_71.variant32 5 rs2219745
dbSNP Clinvar 		74506658 221.89 C T PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.25879 0.25880 None None None None None None ANKRD31|0.011398689|79.69%
View combined sample_71.variant32 5 rs961098
dbSNP Clinvar 		74400386 1536.4 G C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.21266 0.21270 0.13447 1.00 0.07 None None None None None None ANKRD31|0.011398689|79.69%

ANKRD33B
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 combined sample_71.variant32 5 rs10062687
dbSNP Clinvar 		10624866 580.85 T G PASS 0/1 76 None None None 0.13459 0.13460 0.00 0.00 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_71.variant32 5 rs1531839
dbSNP Clinvar 		10624887 825.3 T C PASS 0/1 55 None None None 0.51138 0.51140 0.01 0.00 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_71.variant32 5 rs814576
dbSNP Clinvar 		10564846 1387.67 C T PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.96426 0.96430 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_71.variant32 5 rs113222960
dbSNP Clinvar 		10649784 348.07 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.26018 0.26020 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_71.variant32 5 rs56969869
dbSNP Clinvar 		10650150 2478.96 A G PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.30771 0.30770 0.34428 None None None None None None ANKRD33B|0.01613202|76.38%
View combined sample_71.variant32 5 rs11745612
dbSNP Clinvar 		10638180 580.47 T C PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.37101 0.37100 0.43057 None None None None None None ANKRD33B|0.01613202|76.38%

ANKRD34B
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 combined sample_71.variant32 5 rs32857
dbSNP Clinvar 		79855372 2836.28 A G PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.94249 0.94250 0.11141 1.00 0.00 None None None None None None ANKRD34B|0.037975306|66.46%

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 combined sample_71.variant32 5 rs321775
dbSNP Clinvar 		55406952 1556.86 T C PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.21765 0.21770 0.21728 None None None None None None ANKRD55|0.097647762|51.59%
View combined sample_71.variant32 5 rs321776
dbSNP Clinvar 		55407542 653.85 C T PASS 0/1 55 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%

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 combined sample_71.variant32 5 rs1054428
dbSNP Clinvar 		43039793 1652.56 T C PASS 0/1 227 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 combined sample_71.variant32 5 rs11960458
dbSNP Clinvar 		150480520 1547.26 C T PASS 0/1 137 None None None 0.23223 0.23220 0.00 0.01 None None None None None None ANXA6|0.284174792|28.78%
View combined sample_71.variant32 5 rs1133202
dbSNP Clinvar 		150489390 3516.3 A G PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.75819 0.75820 0.21680 None None None None None None ANXA6|0.284174792|28.78%
View combined sample_71.variant32 5 rs2228458
dbSNP Clinvar 		150518988 1449.13 G A PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.27756 0.27760 0.17837 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 combined sample_71.variant32 5 rs6453373
dbSNP Clinvar 		77425028 1939.34 A T PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.06720 1.00 0.00 None None None None None None AP3B1|0.638758531|10.5%

APBB3
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 combined sample_71.variant32 5 rs250431
dbSNP Clinvar 		139940233 370.13 G A PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.63139 0.63140 0.41227 None None None None None None APBB3|0.268238369|30.01%
View combined sample_71.variant32 5 rs250430
dbSNP Clinvar 		139941228 1233.86 A G PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.90575 0.90580 0.11018 1.00 0.00 None None None None None None APBB3|0.268238369|30.01%

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 combined sample_71.variant32 5 rs2229992
dbSNP Clinvar 		112162854 1875.76 T C PASS 0/1 76 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%
View combined sample_71.variant32 5 rs351771
dbSNP Clinvar 		112164561 2879.89 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.66613 0.66610 0.41357 None None None None None None APC|0.952088564|2.19%
View combined sample_71.variant32 5 rs41115
dbSNP Clinvar 		112175770 3164.59 G A PASS 0/1 92 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View combined sample_71.variant32 5 rs42427
dbSNP Clinvar 		112176325 2386.48 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.66673 0.66670 0.40987 None None None None None None APC|0.952088564|2.19%
View combined sample_71.variant32 5 rs866006
dbSNP Clinvar 		112176559 3648.72 T G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.66693 0.66690 0.41201 None None None None None None APC|0.952088564|2.19%
View combined sample_71.variant32 5 rs459552
dbSNP Clinvar 		112176756 4645.73 T A PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.86542 0.86540 0.17374 0.50 0.00 None None None None None None APC|0.952088564|2.19%
View combined sample_71.variant32 5 rs465899
dbSNP Clinvar 		112177171 1324.01 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.41309 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 combined sample_71.variant32 5 rs10062297
dbSNP Clinvar 		115298378 1760.47 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.77496 0.77500 0.16337 None None None None None None None
View combined sample_71.variant32 5 rs12520255
dbSNP Clinvar 		115298475 3403.7 T C PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.77396 0.77400 0.17663 0.86 0.00 None None None None None None None
View combined sample_71.variant32 5 rs12522632
dbSNP Clinvar 		115298518 5037.89 A G PASS 0/1 183 SYNONYMOUS_CODING LOW None 0.17741 None None None None None None None
View combined sample_71.variant32 5 rs1445708
dbSNP Clinvar 		115298977 1540.31 C T PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.38918 0.38920 0.34532 None None None None None None None
View combined sample_71.variant32 5 rs10078748
dbSNP Clinvar 		115341611 3480.76 G T PASS 0/1 111 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None
View combined sample_71.variant32 5 rs10078759
dbSNP Clinvar 		115341638 3111.87 G C PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.18292 0.02 0.15 None None None None None None None
View combined sample_71.variant32 5 rs17138646
dbSNP Clinvar 		115346245 1478.67 T G PASS 0/1 93 None None None 0.20 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 combined sample_71.variant32 5 rs61749636
dbSNP Clinvar 		141033870 3626.45 T G PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.02616 0.02616 0.05567 0.39 0.00 None None None None None None ARAP3|0.158448394|41.8%
View combined sample_71.variant32 5 rs7703648
dbSNP Clinvar 		141036337 1430.52 A G PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.48143 0.48140 0.48808 None None None None None None ARAP3|0.158448394|41.8%
View combined sample_71.variant32 5 rs417503
dbSNP Clinvar 		141059649 3676.18 A G PASS 1/1 165 SYNONYMOUS_CODING LOW None 0.78335 0.78330 0.21659 None None None None None None ARAP3|0.158448394|41.8%
View combined sample_71.variant32 5 rs11167756
dbSNP Clinvar 		141059868 8523.63 T C PASS 0/1 269 SYNONYMOUS_CODING LOW None 0.46566 0.46570 0.42826 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 combined sample_71.variant32 5 rs2270068
dbSNP Clinvar 		142421415 3991.26 T G PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.88818 0.88820 0.00169 None None None None None None ARHGAP26|0.689373516|8.81%
View combined sample_71.variant32 5 rs258819
dbSNP Clinvar 		142593652 586.73 C T PASS 1/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 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 combined sample_71.variant32 5 rs7716253
dbSNP Clinvar 		73090261 3007.47 T C PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.61342 0.61340 0.39609 None None None None None None ARHGEF28|0.15892968|41.74%
View combined sample_71.variant32 5 rs2973571
dbSNP Clinvar 		73142296 1114.99 C T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.17213 0.17210 0.23821 0.36 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View combined sample_71.variant32 5 rs2973568
dbSNP Clinvar 		73144845 2033.12 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.67632 0.67630 0.32967 None None None None None None ARHGEF28|0.15892968|41.74%
View combined sample_71.variant32 5 rs2931423
dbSNP Clinvar 		73163831 1049.55 C T PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.27751 None None None None None None ARHGEF28|0.15892968|41.74%
View combined sample_71.variant32 5 rs2973558
dbSNP Clinvar 		73163965 1085.29 C A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.22264 0.22260 0.27568 0.40 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View combined sample_71.variant32 5 rs7714670
dbSNP Clinvar 		73072354 4145.36 T C PASS 0/1 144 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%
View combined sample_71.variant32 5 rs1478453
dbSNP Clinvar 		73207372 9076.79 T A PASS 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.30232 0.30230 0.38488 0.30 0.00 None None None None None None ARHGEF28|0.15892968|41.74%
View combined sample_71.variant32 5 rs6453022
dbSNP Clinvar 		73076511 2510.43 C A PASS 1/1 76 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%

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 combined sample_71.variant32 5 rs2400891
dbSNP Clinvar 		148989122 2176.28 C T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.37720 0.37720 0.46349 None None None None None None ARHGEF37|0.046932636|63.62%
View combined sample_71.variant32 5 rs9324624
dbSNP Clinvar 		149006640 1679.59 C T PASS 0/1 73 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%