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:
AARS2, ABCA7, ABCB4, ACPT, ACSF2, ADAL, ADAM15, ADAMTS7, AGAP1, AGAP7, ANAPC1, ANKRD36, ANKRD42, ANO7, APCDD1L, AQPEP, ARHGAP26, ARID4B, ARMC3, ASIC5, ATP11A, ATP2A3, ATP6V0A2, ATP8B1, B3GALTL, BMP8A, BTNL9, C10orf53, C17orf49, C20orf96, CACNA1S, CALCR, CAPN2, CAST, CBWD1, CCDC68, CCDC7, CCDC88C, CCND1, CDH17, CELA3B, CEP290, CEP89, CLEC2D, CNOT6, COG3, COL26A1, COL4A4, COL5A3, COL6A5, COPE, CSF1, CSNK1G1, CTSD, CXXC1, CYB5D1, DBH, DGKA, DMXL2, DNAAF3, DNAH1, DNAJC16, DNASE2B, DNM1L, DSP, EHMT2, EI24, EIF4B, FAM3B, FANCD2, FCRL3, FCRL5, FCRLB, FHAD1, FKBP2, FMNL2, GAB4, GALP, GCOM1, GEMIN5, GFER, GPATCH1, GRAMD1A, GRIK4, GTPBP10, HAUS6, HBQ1, HCLS1, HEATR1, HEG1, HLA-B, HPS5, HR, HTRA4, IMMT, INPP4B, IRAK1BP1, IRGQ, ITGA4, ITGA5, KALRN, KIAA1586, KIAA1731, KLK3, KRT6A, KRT72, KRT75, LASP1, LENG8, LGI4, LIG1, LMNA, LPHN3, LRP1B, LRRC16A, LSG1, LTBP4, MAP2K2, MAST1, MBD4, MCOLN1, MDH2, MEF2A, MGAM, MLF1, MRO, MRPL30, MS4A7, MUC12, MYH13, MYH7B, MYO7A, NAV2, NBAS, NCAPD2, NCAPG, NCKAP1, NEK10, NEURL4, NID2, NLRP13, NLRP5, NMS, NPC1, NUP85, NUP88, PARP4, PARVB, PCSK1N, PDLIM3, PGS1, PIEZO2, PIH1D1, PITRM1, PKD1L1, PKD1L2, PLAC8L1, PLD2, PLXNB2, POLR2A, PPIL2, PRRC1, PRSS3, PTK2B, PTPRA, PTPRJ, PXDN, RAP1GAP2, REC8, RNF212, RPAIN, RYR3, SBK1, SCNN1B, SDK2, SERPINB11, SGCG, SH3BP1, SH3YL1, SHKBP1, SIRPA, SLC22A7, SLC26A3, SLC34A3, SLC7A7, SLCO4C1, SNTB2, SORBS1, SORCS2, SPEF2, SPINK5, SPTB, SRGAP2, ST3GAL4, STRC, SUPT16H, SV2A, SYT9, TEC, TFR2, TMED4, TMX1, TRAF3, TRPM5, TSC1, TTC3, TTLL1, TUBB6, UQCRC2, USO1, VAV3, VCAN, VPS8, WDR19, WDR64, ZC3H11A, ZFAND5, ZNF419, ZNF609, ZNF658, ZNF777,

Genes at Omim

AARS2, ABCA7, ABCB4, ACPT, ARHGAP26, ATP6V0A2, ATP8B1, CACNA1S, CALCR, CAST, CCDC88C, CCND1, CEP290, COL4A4, CTSD, DBH, DMXL2, DNAAF3, DNAH1, DNM1L, DSP, FANCD2, GFER, HLA-B, HPS5, HR, KALRN, KRT6A, KRT75, LGI4, LMNA, LTBP4, MAP2K2, MAST1, MCOLN1, MDH2, MEF2A, MLF1, MYO7A, NBAS, NCAPD2, NPC1, NPC1, NUP85, PIEZO2, PKD1L1, PTPRJ, PXDN, RNF212, SCNN1B, SGCG, SLC26A3, SLC34A3, SLC7A7, SPINK5, SPTB, STRC, TEC, TFR2, TRAF3, TSC1, TUBB6, UQCRC2, VCAN, WDR19,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCB4 Gallbladder disease 1, 600803 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CALCR {Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DMXL2 ?Deafness, autosomal dominant 71, 617605 (3)
?Polyendocrine-polyneuropathy syndrome, 616113 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)
Optic atrophy 5, 610708 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
HR Alopecia universalis, 203655 (3)
Atrichia with papular lesions, 209500 (3)
Hypotrichosis 4, 146550 (3)
KALRN {Coronary heart disease, susceptibility to, 5}, 608901 (3)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Restrictive dermopathy, lethal, 275210 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MDH2 Epileptic encephalopathy, early infantile, 51, 617339 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SCNN1B Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
Liddle syndrome 1, 177200 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SPINK5 Netherton syndrome, 256500 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
STRC Deafness, autosomal recessive 16, 603720 (3)
TEC Transient erythroblastopenia of childhood (2)
TFR2 Hemochromatosis, type 3, 604250 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
TUBB6 ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)
UQCRC2 Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)
VCAN Wagner syndrome 1, 143200 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)

Genes at Clinical Genomics Database

AARS2, ABCB4, ATP6V0A2, ATP8B1, CACNA1S, CAST, CCDC88C, CEP290, COL4A4, CTSD, DBH, DMXL2, DNAH1, DNM1L, DSP, FANCD2, GFER, GRIK4, HLA-B, HPS5, HR, KRT6A, KRT75, LMNA, LTBP4, MAP2K2, MCOLN1, MYO7A, NBAS, NPC1, PIEZO2, PXDN, SCNN1B, SGCG, SLC26A3, SLC34A3, SLC7A7, SPINK5, SPTB, STRC, TFR2, TRAF3, TSC1, UQCRC2, VCAN, WDR19,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ABCB4 Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CACNA1S Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCDC88C Spinocerebellar ataxia 40
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
COL4A4 Alport syndrome, autosomal recessive
CTSD Ceroid lipofuscinosis, neuronal, 10
DBH Dopamine beta-hydroxylase deficiency
DMXL2 Polyendocrine-polyneuropathy syndrome
DNAH1 Spermatogenic failure
DNM1L Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
FANCD2 Fanconi anemia, complementation group D2
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GRIK4 Response to antidepressant treatment with citalopram
HLA-B Drug-induced toxicity, susceptibility to
HPS5 Hermansky-Pudlak syndrome 5
HR Hypotrichosis 4
Atrichia with papular lesions
Alopecia universalis congenita
KRT6A Pachyonychia congenita 3
KRT75 Pseudofolliculitis barbae
LMNA Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
NBAS Infantile liver failure syndrome 2
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PXDN Corneal opacification with other ocular anomalies
SCNN1B Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC26A3 Diarrhea 1, secretory chloride, congenital
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SLC7A7 Lysinuric protein intolerance
SPINK5 Netherton syndrome
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
STRC Deafness, autosomal recessive 16
TFR2 Hemochromatosis, type 3
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
UQCRC2 Mitochondrial Complex III Deficiency, nuclear type 5
VCAN Wagner syndrome 1
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8

Genes at HGMD

Summary

Number of Variants: 229
Number of Genes: 221

Export to: CSV

AARS2

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 grc14378022_exome 6 rs78525157
dbSNP Clinvar
44272382 553.122 C T . 0/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01338 0.01338 0.00508 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

ABCA7

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 grc14378022_exome 19 rs881768
dbSNP Clinvar
1056065 18.2515 A G . 0/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44209 0.44210 0.45937 None None None None None None ABCA7|0.007770288|82.8%

ABCB4

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 grc14378022_exome 7 rs2109505
dbSNP Clinvar
87079406 1484.13 T A . 0/1 118 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26138 0.26140 0.22490 None None None None None None ABCB4|0.238504845|32.55%

ACPT

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 grc14378022_exome 19 rs2162784
dbSNP Clinvar
51293955 1484.13 G A . 0/1 49 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09964 0.09964 0.08964 None None None None None None ACPT|0.016239372|76.31%

ACSF2

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 grc14378022_exome 17 rs2305998
dbSNP Clinvar
48549791 1484.13 C G,T . 0/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%

ADAL

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 grc14378022_exome 15 rs2278857
dbSNP Clinvar
43632549 1484.13 T C . 1/1 51 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.53914 0.53910 0.48339 None None None None None None ADAL|0.343367733|24.61%

ADAM15

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 grc14378022_exome 1 rs11589479
dbSNP Clinvar
155033308 1484.13 G A . 0/1 98 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07508 0.07508 0.12279 None None None None None None ADAM15|0.077192579|55.85%

ADAMTS7

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 grc14378022_exome 15 rs3784323
dbSNP Clinvar
79064170 282.552 C T . 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06010 0.06010 0.03668 None None None None None None ADAMTS7|0.010836867|80.23%

AGAP1

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 grc14378022_exome 2 rs2292708
dbSNP Clinvar
236708166 92.3257 C T . 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.21506 None None None None None None AGAP1|0.457547319|17.79%

AGAP7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378022_exome 10 rs200931942
dbSNP Clinvar
51466576 17.8587 C T . 0/1 18 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None AGAP7P|0.001668593|92.02%

ANAPC1

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 grc14378022_exome 2 rs4848197
dbSNP Clinvar
112605302 56.0217 C T . 0/1 20 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56250 0.56250 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD36

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 grc14378022_exome 2 rs79756591
dbSNP Clinvar
97820478 34.3629 G A . 0/1 49 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ANKRD36|0.001192347|94.46%
View grc14378022_exome 2 rs5008284
dbSNP Clinvar
97833342 1484.13 G A . 0/1 195 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD42

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 grc14378022_exome 11 rs79522535
dbSNP Clinvar
82938790 792.814 T G . 0/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.02376 0.02376 0.02114 None None None None None None ANKRD42|0.200143313|36.74%

ANO7

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 grc14378022_exome 2 rs2074840
dbSNP Clinvar
242141719 1484.13 C T . 1/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.36491 None None None None None None ANO7|0.004152604|86.8%

APCDD1L

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 grc14378022_exome 20 rs1980576
dbSNP Clinvar
57045667 1484.13 T C . 1/1 161 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%

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 grc14378022_exome 5 rs10078748
dbSNP Clinvar
115341611 1484.13 G T . 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None

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 grc14378022_exome 5 rs258819
dbSNP Clinvar
142593652 1484.13 C T . 1/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%

ARID4B

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 grc14378022_exome 1 rs12731746
dbSNP Clinvar
235392546 14.6766 T C . 0/1 9 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44868 0.44870 0.46463 None None None None None None ARID4B|0.332554915|25.29%

ARMC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378022_exome 10 rs11817610
dbSNP Clinvar
23297301 1484.13 C T . 1/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.47916 None None None None None None ARMC3|0.037067211|66.75%

ASIC5

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 grc14378022_exome 4 rs6848883
dbSNP Clinvar
156787340 1484.13 G A . 1/1 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

ATP11A

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 grc14378022_exome 13 rs1290177
dbSNP Clinvar
113536132 985.313 T C . 1/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%

ATP2A3

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 grc14378022_exome 17 rs3179783
dbSNP Clinvar
3840928 1484.13 A G . 0/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.24189 None None None None None None ATP2A3|0.0615045|59.44%

ATP6V0A2

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 grc14378022_exome 12 rs7135542
dbSNP Clinvar
124229429 1484.13 T C . 1/1 114 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%

ATP8B1

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 grc14378022_exome 18 rs319438
dbSNP Clinvar
55364852 1484.13 A G . 1/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%

B3GALTL

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 grc14378022_exome 13 rs4943266
dbSNP Clinvar
31821992 1484.13 T C . 1/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BMP8A

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 grc14378022_exome 1 rs6526
dbSNP Clinvar
39977575 300.441 C T . 0/1 214 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None BMP8A|0.080167637|55.11%

BTNL9

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 grc14378022_exome 5 rs3806869
dbSNP Clinvar
180485353 53.3104 G A . 0/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07029 0.07029 0.06666 None None None None None None BTNL9|0.0033064|88.07%

C10orf53

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View grc14378022_exome 10 rs1133837
dbSNP Clinvar
50901938 38.479 C T . 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35304 0.35300 0.44049 None None None None None None C10orf53|0.004766771|86.14%

C17orf49

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 grc14378022_exome 17 rs14309
dbSNP Clinvar
6919093 1484.13 T C . 0/1 85 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75739 0.75740 0.22774 None None None None None None RNASEK-C17orf49|0.371919774|22.61%,C17orf49|0.341426499|24.73%

C20orf96

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 grc14378022_exome 20 rs7271033
dbSNP Clinvar
259969 1484.13 G C . 0/1 105 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%

CACNA1S

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 grc14378022_exome 1 rs2297902
dbSNP Clinvar
201035071 81.9042 G A . 0/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05391 0.05391 0.01238 None None None None None None CACNA1S|0.323841456|25.88%

CALCR

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 grc14378022_exome 7 rs10269878
dbSNP Clinvar
93090133 26.5219 C T . 0/1 36 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05531 0.05531 0.05451 None None None None None None CALCR|0.129366689|45.96%

CAPN2

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 grc14378022_exome 1 rs17596
dbSNP Clinvar
223905532 1484.13 G A . 1/1 41 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59545 0.59540 0.33746 None None None None None None CAPN2|0.174674652|39.7%

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 grc14378022_exome 5 rs7724759
dbSNP Clinvar
96076487 1484.13 G A . 0/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17492 0.17490 0.24704 None None None None None None CAST|0.162925975|41.16%

CBWD1

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 grc14378022_exome 9 . 154795 1484.13 T C . 0/1 122 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78694 0.23615 None None None None None None CBWD1|0.029140848|69.81%

CCDC68

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 grc14378022_exome 18 rs1344011
dbSNP Clinvar
52605188 43.5846 C T . 0/1 18 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CCDC7

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 grc14378022_exome 10 rs7897978
dbSNP Clinvar
32745262 74.0746 T C . 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.16094 0.16090 0.14163 None None None None None None CCDC7|0.005449004|85.28%

CCDC88C

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 grc14378022_exome 14 rs1970912
dbSNP Clinvar
91773568 1484.13 T C . 1/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.42060 None None None None None None CCDC88C|0.052356783|61.96%

CCND1

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 grc14378022_exome 11 rs9344
dbSNP Clinvar
69462910 1484.13 G A . 0/1 88 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.38674 None None None None None None CCND1|0.99996103|0.13%

CDH17

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 grc14378022_exome 8 rs35792427
dbSNP Clinvar
95161102 1484.13 G A . 0/1 51 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12680 0.12680 0.09995 None None None None None None CDH17|0.034427264|67.65%

CELA3B

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 grc14378022_exome 1 rs1803531
dbSNP Clinvar
22310824 950.693 T C . 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.89317 0.89320 0.05368 None None None None None None CELA3B|0.015617411|76.71%

CEP290

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 grc14378022_exome 12 rs45465996
dbSNP Clinvar
88505633 58.9224 A G . 1/1 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06889 0.06889 0.13844 None None None None None None CEP290|0.560411435|13.34%

CEP89

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 grc14378022_exome 19 rs10411735
dbSNP Clinvar
33444707 187.432 C T . 0/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.35007 None None None None None None CEP89|0.007695004|82.86%

CLEC2D

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 grc14378022_exome 12 rs3764021
dbSNP Clinvar
9833628 1484.13 C T . 1/1 56 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.49831 None None None None None None CLEC2D|0.000737719|97.09%

CNOT6

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 grc14378022_exome 5 rs6877400
dbSNP Clinvar
179996111 34.3387 C T . 0/1 14 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14647 None None None None None None CNOT6|0.652785136|9.99%

COG3

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 grc14378022_exome 13 rs3014960
dbSNP Clinvar
46077381 1484.13 G A . 1/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

COL26A1

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 grc14378022_exome 7 rs17135626
dbSNP Clinvar
101194424 1484.13 C T . 0/1 118 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29054 0.29050 0.35818 None None None None None None COL26A1|0.059520302|60.03%

COL4A4

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 grc14378022_exome 2 rs2228556
dbSNP Clinvar
227892619 1484.13 C T . 1/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

COL5A3

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 grc14378022_exome 19 rs1559186
dbSNP Clinvar
10106936 1484.13 G C . 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39497 0.39500 0.41921 None None None None None None COL5A3|0.039580114|65.88%

COL6A5

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 grc14378022_exome 3 rs10212372
dbSNP Clinvar
130104206 19.9493 A G . 0/1 9 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.40176 0.40180 None None None None None None COL6A5|0.015397469|76.88%

COPE

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 grc14378022_exome 19 rs3177137
dbSNP Clinvar
19023853 1484.13 T C . 0/1 120 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.44303 None None None None None None COPE|0.199133085|36.81%

CSF1

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 grc14378022_exome 1 rs2229166
dbSNP Clinvar
110466810 24.7636 C A . 0/1 20 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31649 0.31650 0.23647 None None None None None None CSF1|0.062906751|59.11%

CSNK1G1

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 grc14378022_exome 15 rs6494466
dbSNP Clinvar
64508763 1116.93 G A . 0/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48542 0.48540 0.46202 None None None None None None CSNK1G1|0.679298986|9.11%

CTSD

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 grc14378022_exome 11 rs2230067
dbSNP Clinvar
1780867 161.429 G A . 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05531 0.05531 0.06423 None None None None None None CTSD|0.098615939|51.46%

CXXC1

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 grc14378022_exome 18 rs17660776
dbSNP Clinvar
47811374 41.3736 G A . 0/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.10923 0.10920 0.13586 None None None None None None CXXC1|0.180356139|38.99%

CYB5D1

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 grc14378022_exome 17 rs3744252
dbSNP Clinvar
7761926 24.8754 C T . 0/1 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09525 0.09525 0.07074 None None None None None None NAA38|0.548761637|13.79%,CYB5D1|0.08501916|54.2%

DBH

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 grc14378022_exome 9 rs1108580
dbSNP Clinvar
136505114 1484.13 A G . 0/1 155 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.42680 None None None None None None DBH|0.089974085|53.24%

DGKA

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 grc14378022_exome 12 rs1136082
dbSNP Clinvar
56335107 29.1678 A G . 0/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84764 0.84760 0.14663 None None None None None None DGKA|0.088457304|53.54%

DMXL2

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 grc14378022_exome 15 rs76659258
dbSNP Clinvar
51748564 1484.13 A G . 0/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01398 0.01398 0.02662 None None None None None None DMXL2|0.159706533|41.6%

DNAAF3

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 grc14378022_exome 19 rs7260320
dbSNP Clinvar
55672784 1484.13 A G . 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.22704 0.22700 0.23335 None None None None None None DNAAF3|0.005278927|85.46%

DNAH1

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 grc14378022_exome 3 rs61734628
dbSNP Clinvar
52424953 1484.13 C T . 0/1 48 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06390 0.06390 0.06113 None None None None None None DNAH1|0.135728173|45.01%

DNAJC16

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 grc14378022_exome 1 rs2236215
dbSNP Clinvar
15892415 383.449 A C . 0/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.35876 None None None None None None DNAJC16|0.148396459|43.23%

DNASE2B

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 grc14378022_exome 1 rs7511984
dbSNP Clinvar
84878228 1484.13 C T . 0/1 144 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13558 0.13560 0.18507 None None None None None None DNASE2B|0.074448603|56.42%

DNM1L

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 grc14378022_exome 12 rs2272238
dbSNP Clinvar
32860302 1484.13 G A . 0/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14397 0.14400 0.16274 None None None None None None DNM1L|0.863813357|4.41%

DSP

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 grc14378022_exome 6 rs1016835
dbSNP Clinvar
7576527 28.3424 G A . 0/1 18 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

EHMT2

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 grc14378022_exome 6 rs535586
dbSNP Clinvar
31860337 1484.13 T C . 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.83327 0.83330 0.25190 None None None None None None EHMT2|0.178387468|39.23%

EI24

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 grc14378022_exome 11 rs4627097
dbSNP Clinvar
125452313 1484.13 A G . 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.34046 0.34050 0.35699 None None None None None None EI24|0.31494271|26.44%

EIF4B

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 grc14378022_exome 12 rs8916
dbSNP Clinvar
53433486 1484.13 C T . 1/1 60 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75379 0.75380 0.19484 None None None None None None EIF4B|0.258261547|30.89%

FAM3B

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 grc14378022_exome 21 rs417708
dbSNP Clinvar
42717662 1484.13 T C . 1/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FANCD2

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 grc14378022_exome 3 rs72492997
dbSNP Clinvar
10088266 1235.3 G T . 0/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FANCD2|0.244996414|32.01%

FCRL3

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 grc14378022_exome 1 rs78284410
dbSNP Clinvar
157667213 18.3799 C T . 0/1 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.00208 None None None None None None FCRL3|0.001142967|94.75%

FCRL5

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 grc14378022_exome 1 rs3827757
dbSNP Clinvar
157489535 1484.13 G A . 0/1 51 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14337 0.14340 0.11441 None None None None None None FCRL5|0.00052806|98.28%

FCRLB

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 grc14378022_exome 1 rs11585450
dbSNP Clinvar
161696782 58.9282 G C . 1/1 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31450 0.31450 0.36719 None None None None None None FCRLB|0.028697664|70.08%

FHAD1

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 grc14378022_exome 1 rs75432354
dbSNP Clinvar
15599025 25.6167 G A . 0/1 13 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12760 0.12760 0.12352 None None None None None None FHAD1|0.011540707|79.54%

FKBP2

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 grc14378022_exome 11 rs654573
dbSNP Clinvar
64011441 1484.13 T C . 1/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97684 0.97680 0.02039 None None None None None None FKBP2|0.081255498|54.93%

FMNL2

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 grc14378022_exome 2 rs4664114
dbSNP Clinvar
153378459 294.552 T C . 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.34572 None None None None None None FMNL2|0.571016453|12.93%

GAB4

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 grc14378022_exome 22 rs4819925
dbSNP Clinvar
17446991 1484.13 C T . 1/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

GALP

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 grc14378022_exome 19 rs575756
dbSNP Clinvar
56694505 1484.13 C T . 0/1 64 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31450 0.31450 0.31509 None None None None None None GALP|0.001865738|91.36%

GCOM1

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 grc14378022_exome 15 rs2958059
dbSNP Clinvar
57918090 1484.13 A G . 1/1 77 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None GCOM1|0.172662114|39.98%,MYZAP|0.150722079|42.86%,POLR2M|0.038007903|66.46%

GEMIN5

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 grc14378022_exome 5 rs1421813
dbSNP Clinvar
154282235 1484.13 T C . 0/1 85 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12660 0.12660 0.11049 None None None None None None GEMIN5|0.180064442|39.04%
View grc14378022_exome 5 rs816736
dbSNP Clinvar
154271948 1484.13 G A . 1/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GFER

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 grc14378022_exome 16 rs1046502
dbSNP Clinvar
2035868 1009.12 C T . 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23083 0.23080 0.21237 None None None None None None GFER|0.159464404|41.65%

GPATCH1

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 grc14378022_exome 19 rs2287681
dbSNP Clinvar
33608733 70.9941 C A . 1/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36142 0.36140 0.25050 None None None None None None GPATCH1|0.063745069|58.94%

GRAMD1A

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 grc14378022_exome 19 rs2290647
dbSNP Clinvar
35506729 1484.13 G A . 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.30418 None None None None None None GRAMD1A|0.103950782|50.42%

GRIK4

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 grc14378022_exome 11 rs2156634
dbSNP Clinvar
120776001 1484.13 G A . 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87800 0.87800 0.11927 None None None None None None GRIK4|0.59773792|11.84%

GTPBP10

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 grc14378022_exome 7 rs6972561
dbSNP Clinvar
89982132 22.0275 T C . 0/1 16 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.27356 0.27360 0.24543 None None None None None None GTPBP10|0.267953492|30.04%

HAUS6

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 grc14378022_exome 9 rs7875404
dbSNP Clinvar
19087154 1484.13 T C . 0/1 50 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13339 0.13340 0.16941 None None None None None None HAUS6|0.099395396|51.29%

HBQ1

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 grc14378022_exome 16 rs11863726
dbSNP Clinvar
230578 1484.13 A G . 0/1 76 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20387 0.20390 0.14561 None None None None None None HBQ1|0.003717724|87.4%

HCLS1

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 grc14378022_exome 3 rs3772126
dbSNP Clinvar
121354583 1484.13 G A . 1/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21825 0.21830 0.18768 None None None None None None HCLS1|0.153988686|42.41%

HEATR1

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 grc14378022_exome 1 rs4518892
dbSNP Clinvar
236744712 25.6023 C A . 0/1 13 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.47855 None None None None None None HEATR1|0.11883394|47.61%

HEG1

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 grc14378022_exome 3 rs59232004
dbSNP Clinvar
124738107 20.3349 C T . 1/1 5 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49221 0.49220 0.46343 None None None None None None HEG1|0.04030264|65.66%

HLA-B

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 grc14378022_exome 6 rs2596493
dbSNP Clinvar
31323945 15.15 A C . 0/1 8 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87380 0.87380 None None None None None None HLA-B|0.04113834|65.4%

HPS5

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 grc14378022_exome 11 rs1140047
dbSNP Clinvar
18327684 116.433 G T . 0/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.28774 None None None None None None HPS5|0.115331572|48.24%

HR

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 grc14378022_exome 8 rs57903149
dbSNP Clinvar
21978469 18.2552 A G . 0/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11382 0.11380 0.11836 None None None None None None HR|0.094024415|52.35%
View grc14378022_exome 8 rs58080661
dbSNP Clinvar
21978578 1484.13 A G . 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11302 0.11300 0.12544 None None None None None None HR|0.094024415|52.35%

HTRA4

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 grc14378022_exome 8 rs4733961
dbSNP Clinvar
38835666 103.189 T C . 1/1 14 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78195 0.78190 0.25965 None None None None None None HTRA4|0.040089057|65.75%

IMMT

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 grc14378022_exome 2 rs17027011
dbSNP Clinvar
86406556 18.9676 C T . 0/1 9 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.10843 0.10840 0.07541 None None None None None None IMMT|0.372274886|22.58%

INPP4B

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 grc14378022_exome 4 rs34561493
dbSNP Clinvar
143043397 831.062 G A . 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05671 0.05671 0.07166 None None None None None None INPP4B|0.434163387|18.99%

IRAK1BP1

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 grc14378022_exome 6 rs6908105
dbSNP Clinvar
79595097 1075.82 A G . 0/1 36 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26558 0.26560 0.33490 None None None None None None IRAK1BP1|0.071304062|57.14%