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Genes at Omim

AARS2, ADAR, ALG9, BCL2, BRF1, CACNA1A, COL18A1, COL8A2, DSP, DUOXA2, ELN, FAM111B, H6PD, HLA-G, HYDIN, INPP5E, IQSEC2, KIF1A, MCC, MMP19, MUC5B, PTPRQ, RP1L1, SHANK2, SMIM1, SON, TAF6, TRNT1, TRPV3, TUBGCP6, VARS2, WNK1, WWC1,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ADAR Aicardi-Goutieres syndrome 6, 615010 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (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)
DUOXA2 Thyroid dyshormonogenesis 5, 274900 (3)
ELN Cutis laxa, autosomal dominant, 123700 (3)
Supravalvar aortic stenosis, 185500 (3)
FAM111B Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HLA-G {Asthma, susceptibility to}, 600807 (2)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
IQSEC2 Mental retardation, X-linked 1/78, 309530 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SMIM1 [Blood group, Vel system], 615264 (3)
SON ZTTK syndrome, 617140 (3)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)
TRPV3 Olmsted syndrome, 614594 (3)
?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)

Genes at Clinical Genomics Database

AARS2, ADAR, ALG9, BRF1, CACNA1A, COL18A1, COL8A2, DSP, DUOXA2, ELN, FAM111B, FANCL, H6PD, INPP5E, IQSEC2, KIF1A, MMP19, PLEC, PTPRQ, RP1L1, SHANK2, SMIM1, TRNT1, TRPV3, TUBGCP6, VARS2, WNK1, ZNF480,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ADAR Dyschromatosis symmetrica hereditaria
Aicardi-Goutieres syndrome 6
ALG9 Congenital disorder of glycosylation, type Il
BRF1 Cerebellofaciodental syndrome
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
COL18A1 Knobloch syndrome 1
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DUOXA2 Thyroid dyshormonogenesis 5
ELN Cutis laxa, autosomal dominant 1
Supravalvular aortic stenosis
FAM111B Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
FANCL Fanconi anemia type L
H6PD Cortisone reductase deficiency
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
IQSEC2 Mental retardation, X-linked 1
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
MMP19 Cavitary optic disc anomalies
PLEC Muscular dystrophy, limb-girdle, type 2Q
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with nail dystrophy
PTPRQ Deafness, autosomal recessive 84
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
SHANK2 Autism, susceptibility to 17
SMIM1 Blood group, Vel system
TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
TRPV3 Olmsted syndrome
Palmoplantar keratoderma, nonepidermolytic focal 2
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive 1
VARS2 Combined oxidative phosphorylation deficiency 20
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 141
Number of Genes: 134

Export to: CSV

AADACL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs770467308
dbSNP Clinvar
12785493 2069.06 TG T,TT PASS 1/2 217 FRAME_SHIFT HIGH None None None None None None None AADACL3|0.001467435|92.94%

AARS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 6 rs771808127
dbSNP Clinvar
44269192 371.125 TC T,TT PASS 1/2 35 FRAME_SHIFT HIGH None None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

ACBD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 . 226352490 481.168 CT... CT... PASS 1/2 109 FRAME_SHIFT HIGH None None None None None None None ACBD3|0.308663424|26.94%

ADAR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 . 154574332 85.9593 T TC PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None ADAR|0.149816666|43.06%
View 030_tsvc_variants 1 . 154574339 34.6497 A AG PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None ADAR|0.149816666|43.06%

ALG9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs10708475
dbSNP Clinvar
111742145 532.911 CG C PASS 1/1 56 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

AOAH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 7 rs57543920
dbSNP Clinvar
36552790 514.146 G GT PASS 1/1 56 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%

ATG9B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 422.239 G GC PASS 1/1 46 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

BCL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 18 . 60985779 39.1942 CCG C PASS 0/1 39 FRAME_SHIFT HIGH None None None None None None None BCL2|0.938364507|2.54%

BRF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 14 . 105677543 49.3889 CG C PASS 0/1 26 FRAME_SHIFT HIGH None None None None None None None BRF1|0.023675116|72.34%

C10orf113

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 10 rs72102767,rs45546236
dbSNP Clinvar
21435340 152.076 ACACT A PASS 0/1 65 FRAME_SHIFT HIGH None 0.25160 0.25160 0.19292 None None None None None None NEBL|0.384110937|21.79%,C10orf113|0.004367738|86.51%

C11orf40

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs71280817
dbSNP Clinvar
4592708 205.241 C CAG PASS 0/1 169 FRAME_SHIFT HIGH None 0.57612 None None None None None None C11orf40|0.000863852|96.27%
View 030_tsvc_variants 11 rs141600462
dbSNP Clinvar
4592706 253.116 T TAC PASS 0/1 155 FRAME_SHIFT HIGH None 0.42640 None None None None None None C11orf40|0.000863852|96.27%

C15orf32

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 15 . 93015517 96.4904 G GT PASS 0/1 200 FRAME_SHIFT HIGH None None None None None None None C15orf32|0.001308055|93.85%

C4orf45

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 4 . 159894304 930.304 CT C,CC PASS 1/2 105 FRAME_SHIFT HIGH None None None None None None None C4orf45|0.003496909|87.79%

CACNA1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 . 13318672 307.29 CC... CC... PASS 1/1 35 FRAME_SHIFT HIGH None None None None None None None CACNA1A|0.210424701|35.52%

CD6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 . 60785351 1305.82 CA C,CG PASS 1/2 136 FRAME_SHIFT HIGH None None None None None None None CD6|0.006908987|83.59%

CD80

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 3 . 119246662 335.306 TTC T PASS 0/1 145 FRAME_SHIFT HIGH None None None None None None None CD80|0.003617126|87.57%

CDCP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs36013100
dbSNP Clinvar
54605319 260.365 G GC PASS 1/1 31 FRAME_SHIFT HIGH None 0.47983 0.47980 None None None None None None CDCP2|0.053440915|61.64%

CDH10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 5 . 24487999 90.2406 TGA T,TG PASS 0/2 12 FRAME_SHIFT HIGH None None None None None None None CDH10|0.394538371|21.11%

CELSR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 22 . 46931818 23.3534 CG C PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None CELSR1|0.033878373|67.81%

CLECL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 rs71045297,rs113222621
dbSNP Clinvar
9885707 513.478 A AT... PASS 1/1 61 FRAME_SHIFT HIGH None 0.54872 0.54870 0.43154 None None None None None None CLECL1|0.001440928|93.09%

COL18A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 21 . 46924424 147.827 CC... CC,C PASS 1/2 34 FRAME_SHIFT HIGH None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

COL26A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 7 rs36008849,rs398095266
dbSNP Clinvar
101200669 1142.41 A AG PASS 1/1 133 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COL8A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 . 36564628 98.3663 GGC G PASS 1/1 10 FRAME_SHIFT HIGH None None None None None None None COL8A2|0.188633378|37.99%

DAZAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 . 1434834 495.09 GGC G,GG PASS 1/1 73 FRAME_SHIFT HIGH None None None None None None None DAZAP1|0.105859696|50.04%

DNAJC28

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 21 rs139852262,rs3834674
dbSNP Clinvar
34860749 157.556 CA... C PASS 0/1 86 FRAME_SHIFT HIGH None 0.15176 0.15180 0.16323 None None None None None None DNAJC28|0.046400837|63.77%

DSP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 6 . 7584616 168.844 C CT PASS 1/1 36 FRAME_SHIFT HIGH None None None None None None None DSP|0.573194355|12.87%

DUOXA2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 15 . 45408412 390.606 TCC TC... PASS 1/1 44 FRAME_SHIFT HIGH None None None None None None None DUOXA2|0.030794296|69.05%

ELN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 7 rs576324025
dbSNP Clinvar
73474271 128.794 T C,TC PASS 2/2 15 FRAME_SHIFT HIGH None 0.00040 0.00040 None None None None None None ELN|0.695746031|8.62%

ETV4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 17 . 41610607 18.7289 A AG PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None DHX8|0.375727885|22.33%,ETV4|0.879056141|3.98%

FAM111B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs199851144
dbSNP Clinvar
58891961 483.354 GT G PASS 1/1 49 FRAME_SHIFT HIGH None 0.01857 0.01857 0.02045 None None None None None None FAM111B|0.000497758|98.44%

FAM163B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 9 . 136444239 42.2808 CCG CC,C PASS 0/2 117 FRAME_SHIFT HIGH None None None None None None None FAM163B|0.030394724|69.21%

FAM166A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 9 rs570890546
dbSNP Clinvar
140138735 220.787 CAG C PASS 0/1 145 FRAME_SHIFT HIGH None 0.00200 0.00200 0.00479 None None None None None None FAM166A|0.005657938|85.03%

FAM177A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 14 . 35546372 59.5185 GT G,GC PASS 0/1 52 FRAME_SHIFT HIGH None None None None None None None FAM177A1|0.149130642|43.12%

FANCL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 2 rs759217526
dbSNP Clinvar
58386928 136.996 G GTAAT PASS 0/1 97 FRAME_SHIFT HIGH None 0.00249 None None None None None None VRK2|0.430414254|19.11%,FANCL|0.67774308|9.14%

FOLR3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs139130389,rs71891516
dbSNP Clinvar
71850156 217.132 C CTA PASS 0/1 86 FRAME_SHIFT HIGH None 0.12240 0.12240 0.13285 None None None None None None FOLR3|0.003249237|88.23%

GDPD4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs34784710,rs76229203
dbSNP Clinvar
76954788 165.186 T TA PASS 0/1 73 FRAME_SHIFT HIGH None 0.25399 0.25400 0.27081 None None None None None None GDPD4|0.003348907|88.01%

GPATCH4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs72559129
dbSNP Clinvar
156565049 299.496 A AAC PASS 1/1 33 FRAME_SHIFT HIGH None 0.99421 0.99420 0.00871 None None None None None None GPATCH4|0.009985342|80.84%

GRIN3B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 rs10666583
dbSNP Clinvar
1004896 427.375 G GCGTT PASS 0/1 180 FRAME_SHIFT HIGH None 0.15915 0.15910 0.23947 None None None None None None GRIN3B|0.010791412|80.29%

GRP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 18 rs149962068
dbSNP Clinvar
56897667 116.724 TGAAG T PASS 0/1 66 FRAME_SHIFT HIGH None 0.01558 0.01558 0.03124 None None None None None None GRP|0.083217284|54.54%

H6PD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs139855605
dbSNP Clinvar
9304978 119.223 CC... C PASS 0/1 65 FRAME_SHIFT HIGH None 0.10823 0.10820 0.09810 None None None None None None H6PD|0.129103047|46.01%

HLA-G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 6 rs41557518
dbSNP Clinvar
29796434 227.848 AC A PASS 0/1 94 FRAME_SHIFT HIGH None 0.02835 0.02835 0.03094 None None None None None None HLA-G|0.003244426|88.25%

HYDIN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 16 rs11337008,rs57797337
dbSNP Clinvar
70896015 776.836 GA G PASS 0/1 364 FRAME_SHIFT HIGH None None None None None None None HYDIN|0.080749251|55.02%

IGFLR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 rs772212266
dbSNP Clinvar
36230286 115.806 G GGGCT PASS 0/1 50 FRAME_SHIFT HIGH None 0.00024 None None None None None None IGFLR1|0.002097034|90.74%

INPP5E

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 9 . 139333503 385.986 GGC G,GG PASS 1/1 46 FRAME_SHIFT HIGH None None None None None None None INPP5E|0.014755828|77.32%

IQSEC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants X . 53285131 226.594 GGC G PASS 0/1 39 FRAME_SHIFT HIGH None None None None None None None IQSEC2|0.319746311|26.16%

ITIH5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 10 rs61199416,rs398102295
dbSNP Clinvar
7605077 377.53 TC T PASS 1/1 42 FRAME_SHIFT HIGH None 0.90355 0.90360 0.09682 None None None None None None ITIH5|0.026992759|70.89%

KIF1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 2 . 241696840 1148.49 AT... AT... PASS 2/2 138 FRAME_SHIFT HIGH None None None None None None None KIF1A|0.102859335|50.62%

KIR2DS4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 rs138992022
dbSNP Clinvar
55359243 259.228 AAC A PASS 0/1 215 FRAME_SHIFT HIGH None None None None None None None KIR3DL1|0.000640018|97.61%

KLRC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 . 10603669 801.915 G GC PASS 1/1 87 FRAME_SHIFT HIGH None None None None None None None KLRC1|0.000995781|95.46%

KNCN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 . 47013475 109.075 CG C PASS 1/1 13 FRAME_SHIFT HIGH None None None None None None None KNCN|0.246854292|31.85%

KRT24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 17 rs11309872
dbSNP Clinvar
38858134 636.247 CA C PASS 1/1 65 FRAME_SHIFT HIGH None 0.46486 0.46490 0.36867 None None None None None None KRT24|0.036955337|66.8%

KRTAP19-6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 21 rs5843453
dbSNP Clinvar
31913981 148.886 AG A PASS 0/1 46 FRAME_SHIFT HIGH None 0.78714 0.78710 None None None None None None KRTAP19-6|0.002299977|90.16%

KRTAP5-2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 . 1619202 82.8832 GC AC,G PASS 1/2 13 FRAME_SHIFT HIGH None None None None None None None KRTAP5-2|0.015694711|76.65%

KRTAP6-3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 21 . 31965001 172.475 C CG PASS 1/1 19 FRAME_SHIFT HIGH None None None None None None None KRTAP6-3|0.008298652|82.35%

LEPREL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 rs57050687
dbSNP Clinvar
6938023 227.292 C CG PASS 1/1 28 FRAME_SHIFT HIGH None 1.00000 0.00447 None None None None None None GPR162|0.14385703|43.89%,P3H3|0.042788046|64.86%

LILRB2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 . 54780730 20.4481 GT G PASS 0/1 38 FRAME_SHIFT HIGH None None None None None None None LILRB2|0.000967305|95.68%

LMOD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 . 201868559 38.5037 C CCT PASS 0/1 30 FRAME_SHIFT HIGH None None None None None None None LMOD1|0.025847027|71.41%

LRCH4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 7 . 100175472 298.791 GTC G,... PASS 2/3 36 FRAME_SHIFT HIGH None None None None None None None LRCH4|0.163537874|41.08%

MARK4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 . 45790737 30.0216 CG C PASS 0/1 52 FRAME_SHIFT HIGH None None None None None None None MARK4|0.139462613|44.48%

MCC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 5 . 112824059 49.7714 C CCG PASS 0/1 20 FRAME_SHIFT HIGH None None None None None None None MCC|0.469013944|17.21%

MICA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 6 rs67841474
dbSNP Clinvar
31380160 283.977 TG T PASS 0/1 105 FRAME_SHIFT HIGH None 0.20487 0.20490 None None None None None None MICA|0.000484981|98.52%

MMP19

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 . 56236530 1582.2 CA C,CG PASS 1/1 175 FRAME_SHIFT HIGH None None None None None None None MMP19|0.093761961|52.42%

MMP28

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 17 rs58543174
dbSNP Clinvar
34100350 1050.45 G GC PASS 1/1 110 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00208 None None None None None None MMP28|0.028140443|70.36%

MOGAT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 2 rs199514206
dbSNP Clinvar
223559986 237.206 AG A PASS 0/1 108 FRAME_SHIFT HIGH None 0.00519 0.00519 0.01225 None None None None None None MOGAT1|0.020997633|73.67%

MS4A14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs3217518
dbSNP Clinvar
60165352 568.343 ATT A PASS 1/1 63 FRAME_SHIFT HIGH None 0.58706 0.58710 0.40829 None None None None None None MS4A14|0.000550519|98.18%

MUC5B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 . 1271264 146.172 CT C PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None MUC5B|0.001251586|94.15%

NCAPH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 22 . 50959434 467.032 AGG A PASS 1/1 54 FRAME_SHIFT HIGH None None None None None None None NCAPH2|0.018607928|74.92%

NLRC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 16 rs56070390,rs398078461,rs796086799
dbSNP Clinvar
3602227 2485.96 AG A PASS 1/1 264 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00017 None None None None None None NLRC3|0.028009063|70.4%

NOP16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 5 rs56989856,rs397961096
dbSNP Clinvar
175811094 321.188 C CA... PASS 1/2 40 FRAME_SHIFT HIGH None None None None None None None ARL10|0.060845523|59.64%,NOP16|0.115932648|48.14%

ONECUT3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 . 1775401 230.262 CCGG C,CG PASS 2/2 32 FRAME_SHIFT HIGH None None None None None None None ONECUT3|0.017168355|75.74%

OR2B11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs35305980,rs397733455
dbSNP Clinvar
247615261 879.181 GA G PASS 1/1 95 FRAME_SHIFT HIGH None 0.44908 0.44910 0.39479 None None None None None None OR2B11|0.022051192|73.15%

OR2M4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 . 248402757 1409.02 AC A,AT PASS 1/2 150 FRAME_SHIFT HIGH None None None None None None None OR2M4|0.003864163|87.2%

OR2T12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs11339452
dbSNP Clinvar
248458875 161.693 CT C PASS 0/1 99 FRAME_SHIFT HIGH None 0.21466 0.21470 0.13039 None None None None None None OR2T12|0.000698032|97.26%

OR2T35

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 . 248801944 111.362 TC... T PASS 1/1 13 FRAME_SHIFT HIGH None None None None None None None OR2T35|0.002756684|89.14%

OR2T4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs34079073
dbSNP Clinvar
248525638 178.976 CA C PASS 0/1 56 FRAME_SHIFT HIGH None 0.40136 0.40140 0.47987 None None None None None None OR2T4|0.002485835|89.73%

OR4L1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 14 rs112192573,rs33965693
dbSNP Clinvar
20528448 318.345 TC... T PASS 0/1 143 FRAME_SHIFT HIGH None 0.53215 0.53210 None None None None None None OR4L1|0.011360474|79.72%

OR51F1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs34672924
dbSNP Clinvar
4790873 128.587 CG C PASS 0/1 96 FRAME_SHIFT HIGH None 0.21586 0.21590 0.31954 None None None None None None MMP26|0.003581364|87.64%,OR51F1|0.018439476|75%

OR52B4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs11310407,rs398075683,rs397699893
dbSNP Clinvar
4389404 1816.94 AG A PASS 1/1 192 FRAME_SHIFT HIGH None 0.31969 0.31970 0.29346 None None None None None None OR52B4|0.005198892|85.59%

OR52D1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs576495879,rs36066208,rs146317894
dbSNP Clinvar
5510540 295.911 G GGGCT PASS 0/1 146 FRAME_SHIFT HIGH None 0.00739 0.09405 0.11491 None None None None None None HBG2|0.024133976|72.16%,HBE1|0.598378504|11.81%,OR52D1|0.027773257|70.52%

OR52E4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 . 5906290 1251.22 A AC PASS 1/1 148 FRAME_SHIFT HIGH None None None None None None None TRIM5|0.00243037|89.82%,OR52E4|0.042961367|64.81%

OR5A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 . 59211264 1305.62 CT C,CC PASS 1/1 136 FRAME_SHIFT HIGH None None None None None None None OR5A1|0.052373142|61.95%

OR5M10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs148438199
dbSNP Clinvar
56344843 297.271 CC... C PASS 0/1 80 FRAME_SHIFT HIGH None 0.03954 0.03954 0.05801 None None None None None None OR5M10|0.001753376|91.66%

OR6C1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 rs5798345,rs80197193
dbSNP Clinvar
55714406 162.729 C CA PASS 0/1 70 FRAME_SHIFT HIGH None 0.32887 0.32890 0.34518 None None None None None None OR6C1|0.015896574|76.52%

OR7G3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 19 rs111867493,rs3029651
dbSNP Clinvar
9236698 133.544 G GA... PASS 0/1 52 FRAME_SHIFT HIGH None 0.42372 0.42370 0.41459 None None None None None None OR7G3|0.000877541|96.16%

OR8I2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 11 rs138372442
dbSNP Clinvar
55861277 251.044 GT G PASS 0/1 105 FRAME_SHIFT HIGH None 0.03894 0.03894 0.06103 None None None None None None OR8I2|0.005200273|85.58%
View 030_tsvc_variants 11 rs144690814
dbSNP Clinvar
55861306 229.126 CA C PASS 0/1 97 FRAME_SHIFT HIGH None 0.03894 0.03894 0.06103 None None None None None None OR8I2|0.005200273|85.58%

OR9K2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 rs58036029,rs398102299
dbSNP Clinvar
55523586 1022.49 AT A PASS 1/1 113 FRAME_SHIFT HIGH None 0.30411 0.30410 0.34582 None None None None None None OR9K2|0.028863364|69.96%

P2RX5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 17 rs3215407,rs397743686
dbSNP Clinvar
3594276 83.551 TG T PASS 0/1 51 FRAME_SHIFT HIGH None 0.57348 0.57350 0.45614 None None None None None None P2RX5|0.012153199|79.12%

PDE4DIP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 1 rs11295415,rs375854543
dbSNP Clinvar
144917827 458.147 CA C PASS 0/1 187 FRAME_SHIFT HIGH None 0.25579 0.25580 0.36421 None None None None None None PDE4DIP|0.07469644|56.36%
View 030_tsvc_variants 1 rs11341221
dbSNP Clinvar
144873962 303.361 CT C PASS 0/1 279 FRAME_SHIFT HIGH None 0.28914 0.28910 0.39100 None None None None None None PDE4DIP|0.07469644|56.36%

PGPEP1L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 15 rs5814919
dbSNP Clinvar
99511804 697.947 A AC PASS 1/1 74 FRAME_SHIFT HIGH None 0.44269 0.44270 0.42317 None None None None None None PGPEP1L|0.005871674|84.73%

PLEC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 8 . 144992861 151.498 GA G,GG PASS 0/1 75 FRAME_SHIFT HIGH None None None None None None None PLEC|0.108831887|49.41%

PNLIPRP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 10 rs56189579
dbSNP Clinvar
118383463 533.989 A AG PASS 1/1 65 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00026 None None None None None None PNLIPRP2|0.021607761|73.38%

PRB4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 . 11461670 79.2049 G GC PASS 1/1 12 FRAME_SHIFT HIGH None None None None None None None PRB4|0.000561665|98.11%

PRSS48

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 4 rs148861921,rs77216366
dbSNP Clinvar
152201018 57.3034 G GC... PASS 0/1 17 FRAME_SHIFT HIGH None 0.21246 0.21250 0.33572 None None None None None None SH3D19|0.131705972|45.65%,PRSS48|0.002048563|90.86%

PTPN18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 2 . 131129928 85.4795 AG... AG... PASS 1/2 10 FRAME_SHIFT HIGH None None None None None None None PTPN18|0.008124446|82.52%

PTPRQ

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 12 . 80839356 261.616 TG T PASS 0/1 103 FRAME_SHIFT HIGH None None None None None None None PTPRQ|0.143670456|43.92%

PWWP2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 030_tsvc_variants 10 . 134218293 113.384 ACCC AC... PASS 1/2 13 FRAME_SHIFT HIGH None None None None None None None PWWP2B|0.003381204|87.96%