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:
ABCD1, AC002365.1, ACOT9, ACSL4, AIFM1, AKAP17A, AMOT, ARHGAP4, ARHGAP6, ARL13A, ARSD, ARSE, ARSF, ARSH, ASMTL, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATXN3L, AVPR2, BCOR, BCORL1, BEX2, BGN, BRWD3, CA5B, CACNA1F, CCDC160, CCDC22, CD99, CFP, CHM, CITED1, COL4A5, COL4A6, CPXCR1, CSAG1, CSF2RA, CT45A5, CT47B1, CXorf21, CXorf22, CXorf30, CXorf36, CXorf56, CXorf58, CXorf64, CYSLTR1, DCAF8L2, DHRSX, DKC1, DMD, DNASE1L1, DOCK11, DUSP21, EBP, EDA2R, EIF2S3, ELF4, EMD, F9, FAAH2, FAM104B, FAM120C, FAM155B, FANCB, FMR1, FMR1NB, FOXR2, GABRE, GABRQ, GDPD2, GLRA2, GLRA4, GLUD2, GPC4, GPR101, GPR112, GPR174, GPR82, GRIA3, GRPR, GUCY2F, GYG2, H2BFM, H2BFWT, HCFC1, HDHD1, HDX, HEPH, HS6ST2, HUWE1, IGSF1, IRAK1, IRS4, KAL1, KIAA1210, KIF4A, KLHL4, LAMP2, LHFPL1, LONRF3, MAGEA1, MAGEA10, MAGEA11, MAGEA4, MAGEA6, MAGEA8, MAGEB10, MAGEB16, MAGEB2, MAGEB3, MAGEB4, MAGEC2, MAGEC3, MAGED2, MAGIX, MAMLD1, MAOA, MAP3K15, MBTPS2, MCF2, MECP2, MORC4, MPP1, MST4, MTMR1, MXRA5, NAP1L3, NHS, NHSL2, NKAP, NLGN3, NRK, NSDHL, NUDT10, NUDT11, OR13H1, P2RY8, PAGE2, PASD1, PCDH11X, PCSK1N, PHKA1, PIGA, PIM2, PIN4, PIR, PJA1, PLCXD1, PLP1, PLXNB3, PNMA3, POF1B, PPP2R3B, PRICKLE3, PRKX, PRRG1, PRRG3, PTCHD1, RAB40A, RBMX, RGAG4, RIBC1, RP2, RPA4, RPGR, RPL10, RPS4X, SAGE1, SATL1, SHROOM2, SHROOM4, SLC25A43, SLC25A5, SLC35A2, SLC6A8, SLC7A3, SMARCA1, SOWAHD, SOX3, SPANXD, SPANXN5, SPRY3, SSX1, SSX5, SSX7, SYTL4, SYTL5, TAB3, TAF7L, TBC1D25, TCEAL2, TCEAL4, TEX11, TEX13A, TGIF2LX, TIMM17B, TIMP1, TMEM187, TMEM47, TRMT2B, TSPAN6, TXLNG, UBE2NL, UPRT, USP26, USP51, VBP1, VCX2, WDR13, WDR44, XG, XPNPEP2, ZBTB33, ZCCHC5, ZMAT1, ZNF185, ZNF280C, ZNF630, ZNF75D, ZRSR2, ZXDB,

Genes at Omim

ABCD1, ACSL4, AIFM1, ARSE, ATP11C, ATP2B3, ATP6AP1, ATP7A, AVPR2, BCOR, BGN, BRWD3, CACNA1F, CCDC22, CHM, COL4A5, COL4A6, CSF2RA, CXorf56, DKC1, DMD, EBP, EIF2S3, EMD, F9, FANCB, FMR1, GLUD2, GPR101, GRIA3, HCFC1, HUWE1, IGSF1, KAL1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, MECP2, NHS, NLGN3, NSDHL, PHKA1, PIGA, PLP1, PTCHD1, RBMX, RP2, RPGR, RPL10, SHROOM4, SLC35A2, SLC6A8, SOX3, SSX1, TEX11, XG, XPNPEP2,
ABCD1 Adrenoleukodystrophy, 300100 (3)
Adrenomyeloneuropathy, adult, 300100 (3)
ACSL4 Mental retardation, X-linked 63, 300387 (3)
AIFM1 Combined oxidative phosphorylation deficiency 6, 300816 (3)
Cowchock syndrome, 310490 (3)
Deafness, X-linked 5, 300614 (3)
ARSE Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ATP11C ?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3 ?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP6AP1 Immunodeficiency 47, 300972 (3)
ATP7A Menkes disease, 309400 (3)
Occipital horn syndrome, 304150 (3)
Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
AVPR2 Diabetes insipidus, nephrogenic, 304800 (3)
Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
BCOR Microphthalmia, syndromic 2, 300166 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
CACNA1F Aland Island eye disease, 300600 (3)
Cone-rod dystrophy, X-linked, 3, 300476 (3)
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CCDC22 Ritscher-Schinzel syndrome 2, 300963 (3)
CHM Choroideremia, 303100 (3)
COL4A5 Alport syndrome 1, X-linked, 301050 (3)
COL4A6 ?Deafness, X-linked 6, 300914 (3)
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
CXorf56 ?Mental retardation, X-linked 107, 301013 (3)
DKC1 Dyskeratosis congenita, X-linked, 305000 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EBP Chondrodysplasia punctata, X-linked dominant, 302960 (3)
MEND syndrome, 300960 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
EMD Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
F9 Hemophilia B, 306900 (3)
{Warfarin sensitivity}, 122700 (3)
Thrombophilia, X-linked, due to factor IX defect, 300807 (3)
{Deep venous thrombosis, protection against}, 300807 (3)
FANCB Fanconi anemia, complementation group B, 300514 (3)
FMR1 Fragile X syndrome, 300624 (3)
Fragile X tremor/ataxia syndrome, 300623 (3)
Premature ovarian failure 1, 311360 (3)
GLUD2 {Parkinson disease, age of onset, modifier}, 168600 (3)
GPR101 Pituitary adenoma 2, GH-secreting, 300943 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
HCFC1 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMP2 Danon disease, 300257 (3)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MAMLD1 Hypospadias 2, X-linked, 300758 (3)
MAOA Brunner syndrome, 300615 (3)
{Antisocial behavior}, 300615 (3)
MBTPS2 IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
Osteogenesis imperfecta, type XIX, 301014 (3)
?Olmsted syndrome, X-linked, 300918 (3)
MECP2 Encephalopathy, neonatal severe, 300673 (3)
Mental retardation, X-linked syndromic, Lubs type, 300260 (3)
Mental retardation, X-linked, syndromic 13, 300055 (3)
Rett syndrome, 312750 (3)
Rett syndrome, atypical, 312750 (3)
Rett syndrome, preserved speech variant, 312750 (3)
{Autism susceptibility, X-linked 3}, 300496 (3)
NHS Cataract 40, X-linked, 302200 (3)
Nance-Horan syndrome, 302350 (3)
NLGN3 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
{Autism susceptibility, X-linked 1}, 300425 (3)
NSDHL CK syndrome, 300831 (3)
CHILD syndrome, 308050 (3)
PHKA1 Muscle glycogenosis, 300559 (3)
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
PLP1 Pelizaeus-Merzbacher disease, 312080 (3)
Spastic paraplegia 2, X-linked, 312920 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RP2 Retinitis pigmentosa 2, 312600 (3)
RPGR Cone-rod dystrophy, X-linked, 1, 304020 (3)
Macular degeneration, X-linked atrophic, 300834 (3)
Retinitis pigmentosa 3, 300029 (3)
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)
RPL10 Mental retardation, X-linked, syndromic, 35, 300998 (3)
{Autism, susceptibility to, X-linked 5}, 300847 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC35A2 Congenital disorder of glycosylation, type IIm, 300896 (3)
SLC6A8 Cerebral creatine deficiency syndrome 1, 300352 (3)
SOX3 Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)
Panhypopituitarism, X-linked, 312000 (3)
SSX1 ?Sarcoma, synovial, 300813 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
XG [Blood group, XG system] (3)
XPNPEP2 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)

Genes at Clinical Genomics Database

ABCD1, ACSL4, AIFM1, ARSE, ATP2B3, ATP7A, AVPR2, BCOR, BRWD3, CACNA1F, CCDC22, CFP, CHM, COL4A5, COL4A6, CSF2RA, DKC1, DMD, EBP, EMD, F9, FANCB, FMR1, GPR101, GRIA3, HCFC1, HUWE1, IGSF1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, MECP2, NHS, NLGN3, NSDHL, PHKA1, PIGA, PLP1, POF1B, PTCHD1, RBMX, RP2, RPGR, SHROOM4, SLC35A2, SLC6A8, SOX3, TEX11, XG, XPNPEP2,
ABCD1 Adrenoleukodystrophy
ACSL4 Mental retardation, X-linked 63
AIFM1 Deafness, X-linked 5
ARSE Chondrodysplasia punctata 1, X-linked recessive
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
AVPR2 Diabetes insipidus, nephrogenic, X-linked
BCOR Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
BRWD3 Mental retardation, X-linked 93
CACNA1F Aland Island eye disease
Cone-rod dystrophy, X-linked, 3
Night blindness, congenital stationary, X-linked, type 2A
CCDC22 Ritscher-Schinzel syndrome 2
CFP Properdin deficiency, X-linked
CHM Choiroideremia
COL4A5 Alport syndrome, X-linked
COL4A6 Deafness, X-linked, with cochlear malformation
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
EBP Chondrodysplasia punctata 2, X-linked dominant
Male EBP disorder with neurologic defects (MEND)
EMD Emery-Dreifuss muscular dystrophy 1, X-linked
F9 Hemophilia B
Thrombophilia, X-linked, due to factor IX defect
Warfarin sensitivity
FANCB Fanconi anemia,complementation group B
FMR1 Premature ovarian failure
GPR101 Pituitary adenoma, growth hormone secreting, 2
GRIA3 Mental retardation, X-linked 94
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF1 Central hypothyroidism and testicular enlargement
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
MAGED2 Bartter syndrome type 5, antenatal transient
MAMLD1 Hypospadias 2, X-linked
MAOA Brunner syndrome
MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked
IFAP syndrome with or without BRESHECK syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
MECP2 Rett syndrome
Encephalopathy, neonatal severe, due to MECP2 mutations
Autism, X-linked 3
Mental retardation, X-lnked syndromic 13
Angelman-like syndrome
Mental retardation, X-linked 79
NHS Nance-Horan syndrome
Cataract 40
NLGN3 Asperger syndrome, X-linked 1
Autism, X-linked 1
NSDHL Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome)
CK syndrome
PHKA1 Glycogen storage disease, type Ixd
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2
PLP1 Spastic paraplegia-2
Pelizaeus-Merzbacher disease
POF1B Premature ovarian failure 2B
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RP2 Retinitis pigmentosa 2
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC6A8 Creatine deficiency syndrome 1
SOX3 Panhypopituitarism, X-linked
TEX11 Spermatogenic failure, X-linked 2
XG XG blood group
XPNPEP2 Angioedema induced by ACE inhibitors, susceptibility to

Genes at HGMD

Summary

Number of Variants: 644
Number of Genes: 224

Export to: CSV

ABCD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs41314153
dbSNP Clinvar
153005605 57.72 G A PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.08556 0.08556 0.08719 None None None None None None ABCD1|0.05959621|59.98%

AC002365.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs5934730
dbSNP Clinvar
9935526 293.77 G T PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.42967 0.42970 None None None None None None None
View 042_tsvc_variants X rs5934731
dbSNP Clinvar
9935844 340.5 C T PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.51656 0.51660 None None None None None None None

ACOT9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs11175
dbSNP Clinvar
23722835 389.08 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.09298 0.09298 0.15725 None None None None None None ACOT9|0.123415391|46.9%

ACSL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X . 108912295 30.38 G GT PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None ACSL4|0.504424276|15.6%

AIFM1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1139851
dbSNP Clinvar
129283520 219.52 A G PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.49113 0.49110 0.49020 None None None None None None AIFM1|0.770044974|6.56%

AKAP17A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs28661622
dbSNP Clinvar
1719897 452.63 C G PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.53355 0.53350 0.48013 0.48 0.06 None None None None None None AKAP17A|0.002882858|88.87%
View 042_tsvc_variants X rs6644621
dbSNP Clinvar
1713021 405.24 C T PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.55931 0.55930 0.45884 None None None None None None AKAP17A|0.002882858|88.87%

AMOT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs147791784,rs373265985
dbSNP Clinvar
112022297 124.29 C CAGG PASS 0/1 89 CODON_INSERTION MODERATE None 0.04079 0.04079 0.06154 None None None None None None AMOT|0.349674275|24.15%
View 042_tsvc_variants X rs2286063
dbSNP Clinvar
112024157 337.9 G T PASS 0/1 196 SYNONYMOUS_CODING LOW None 0.15709 0.15710 0.08549 None None None None None None AMOT|0.349674275|24.15%

ARHGAP4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2070097
dbSNP Clinvar
153176254 189.62 A G PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.70490 0.70490 0.44202 None None None None None None ARHGAP4|0.028368935|70.27%

ARHGAP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1009758
dbSNP Clinvar
11157535 63.28 G C PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.15656 0.15660 0.20941 0.37 0.00 None None None None None None ARHGAP6|0.321783914|26.02%

ARL13A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs3934462
dbSNP Clinvar
100243459 519.79 G T PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.91338 0.91340 0.10304 0.12 0.00 None None None None None None ARL13A|0.006011211|84.59%
View 042_tsvc_variants X rs6523438
dbSNP Clinvar
100245606 417.14 A G PASS 1/1 46 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%

ARSD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs211653
dbSNP Clinvar
2836037 277.99 G C PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.40636 0.40640 0.44466 0.13 0.08 None None None None None None ARSD|0.001611053|92.29%

ARSE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs35143646
dbSNP Clinvar
2856155 671.12 C T PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.57457 0.57460 0.49223 0.18 0.49 None None None None None None ARSE|0.002669381|89.33%
View 042_tsvc_variants X rs11222
dbSNP Clinvar
2852951 886.26 G A PASS 1/1 107 SYNONYMOUS_CODING LOW None 0.56583 0.56580 0.45809 None None None None None None ARSE|0.002669381|89.33%
View 042_tsvc_variants X rs17325750
dbSNP Clinvar
2867413 123.53 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.03974 0.03974 0.05595 None None None None None None ARSE|0.002669381|89.33%

ARSF

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs5983003
dbSNP Clinvar
3002687 37.73 A G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.79364 0.79360 0.29556 None None None None None None ARSF|0.001220406|94.34%

ARSH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs61751925
dbSNP Clinvar
2945477 138.11 C T PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.03788 0.03788 0.06759 0.01 1.00 None None None None None None ARSH|0.004353843|86.54%
View 042_tsvc_variants X rs77183343
dbSNP Clinvar
2928170 160.82 C T PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.06676 0.06675 0.11114 None None None None None None ARSH|0.004353843|86.54%
View 042_tsvc_variants X rs79487908
dbSNP Clinvar
2928125 174.69 C T PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.02676 0.02675 0.04752 None None None None None None ARSH|0.004353843|86.54%
View 042_tsvc_variants X rs5939407
dbSNP Clinvar
2942109 397.36 T C PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.74702 0.74700 0.36846 None None None None None None ARSH|0.004353843|86.54%

ASMTL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs6644873
dbSNP Clinvar
1537002 110.82 C G PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.66933 0.66930 0.39586 None None None None None None ASMTL|0.001996891|91.03%
View 042_tsvc_variants X rs5949099
dbSNP Clinvar
1546792 313.82 G A PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.69669 0.69670 0.36851 None None None None None None ASMTL|0.001996891|91.03%
View 042_tsvc_variants X rs5948863
dbSNP Clinvar
1546876 487.95 A G PASS 0/1 209 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.35645 None None None None None None ASMTL|0.001996891|91.03%
View 042_tsvc_variants X rs3183025
dbSNP Clinvar
1554649 1220.9 T C PASS 1/1 127 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.38478 0.38480 0.37514 None None None None None None ASMTL|0.001996891|91.03%
View 042_tsvc_variants X rs4503285
dbSNP Clinvar
1537881 77.85 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.26558 0.26560 0.25753 0.03 0.32 None None None None None None ASMTL|0.001996891|91.03%

ATP11C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2491014
dbSNP Clinvar
138897130 519.79 A C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.99205 0.99210 0.01516 1.00 0.00 None None None None None None ATP11C|0.389494809|21.44%

ATP2B3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2269415
dbSNP Clinvar
152823728 2059.19 G C PASS 1/1 215 SYNONYMOUS_CODING LOW None 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%
View 042_tsvc_variants X rs3020949
dbSNP Clinvar
152815089 1054.47 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.98543 0.98540 0.01051 None None None None None None ATP2B3|0.203946244|36.25%

ATP6AP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs28497482
dbSNP Clinvar
153657083 195.16 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.89351 0.89350 0.09485 None None None None None None ATP6AP1|0.067534855|57.98%

ATP7A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs4826245
dbSNP Clinvar
77298857 664.5 G A PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%

ATXN3L

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs4830842
dbSNP Clinvar
13337059 108.49 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.65351 0.65350 0.47569 1.00 0.00 None None None None None None ATXN3L|0.001386148|93.42%

AVPR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs5201
dbSNP Clinvar
153171993 604.68 A G PASS 0/1 249 SYNONYMOUS_CODING LOW None 0.68848 0.68850 0.49778 None None None None None None L1CAM|0.504864866|15.59%,AVPR2|0.577522936|12.7%

BCOR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs5917933
dbSNP Clinvar
39933339 1341.48 A G PASS 1/1 146 SYNONYMOUS_CODING LOW None 0.90305 0.90300 0.10425 None None None None None None BCOR|0.481414102|16.71%

BCORL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs4830173
dbSNP Clinvar
129147079 1214.19 T C PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None BCORL1|0.202266088|36.48%

BEX2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs7557
dbSNP Clinvar
102564583 137.14 A G PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.83285 0.83280 0.30247 None None None None None None BEX2|0.018970374|74.68%

BGN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs4833
dbSNP Clinvar
152770230 893.11 G A PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.38861 0.38860 0.35757 None None None None None None BGN|0.555214937|13.51%

BRWD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs3122407
dbSNP Clinvar
79943569 673.7 T C PASS 1/1 75 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%

CA5B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1808
dbSNP Clinvar
15800751 735.95 G A PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.34782 0.34780 0.31696 None None None None None None CA5B|0.115811341|48.17%

CACNA1F

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2235127
dbSNP Clinvar
49081291 432.55 G A PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.44053 0.44050 0.33374 None None None None None None CACNA1F|0.172930076|39.96%
View 042_tsvc_variants X rs2075866
dbSNP Clinvar
49071964 3144.45 A G PASS 1/1 332 SYNONYMOUS_CODING LOW None 0.55205 0.55210 0.45565 None None None None None None CACNA1F|0.172930076|39.96%

CCDC160

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2428577
dbSNP Clinvar
133379551 571.3 C T PASS 1/1 60 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None CCDC160|0.006302974|84.27%

CCDC22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2294020
dbSNP Clinvar
49103224 1676.06 G A PASS 1/1 166 SYNONYMOUS_CODING LOW None 0.46623 0.46620 0.37489 None None None None None None CCDC22|0.132061966|45.6%

CD99

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1136447
dbSNP Clinvar
2632482 229.31 C T PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.31390 0.31390 0.36821 None None None None None None CD99|0.003192915|88.33%

CFP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1048118
dbSNP Clinvar
47483800 462.79 G A PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.20689 0.20690 0.23819 None None None None None None CFP|0.039345456|66%

CHM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs10217950
dbSNP Clinvar
85219021 255.7 T C PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.12000 0.12000 0.16937 None None None None None None CHM|0.332696206|25.28%

CITED1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs3012627
dbSNP Clinvar
71521867 1975.05 G C PASS 1/1 206 NON_SYNONYMOUS_CODING MODERATE None 0.80927 0.80930 0.08629 1.00 0.00 None None None None None None PIN4|0.129268487|45.97%,CITED1|0.122175989|47.09%

COL4A5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs142883891
dbSNP Clinvar
107834411 220.37 C A PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.00238 0.00238 0.00454 0.56 0.01 None None None None None None COL4A5|0.684108995|8.97%

COL4A6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1042065
dbSNP Clinvar
107433688 1017.9 A G PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 1.00 0.00 None None None None None None COL4A6|0.130757642|45.78%
View 042_tsvc_variants X rs4623610
dbSNP Clinvar
107418906 266.74 A G PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View 042_tsvc_variants X rs1266719
dbSNP Clinvar
107437848 406.78 G C PASS 1/1 50 None None None 0.44980 0.44980 0.36476 0.95 0.00 None None None None None None COL4A6|0.130757642|45.78%

CPXCR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs5940915
dbSNP Clinvar
88008423 448.12 A C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.91364 0.91360 0.09442 1.00 0.00 None None None None None None CPXCR1|0.001467264|92.95%
View 042_tsvc_variants X rs5984611
dbSNP Clinvar
88008807 183.01 G A PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.23046 0.23050 0.32926 0.63 0.50 None None None None None None CPXCR1|0.001467264|92.95%

CSAG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2515848
dbSNP Clinvar
151909156 544.25 A G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.57642 0.57640 0.36315 0.55 0.00 None None None None None None CSAG1|0.000765743|96.9%

CSF2RA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs28460440
dbSNP Clinvar
1422868 283.17 G A PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.32628 0.32630 0.37983 None None None None None None CSF2RA|0.001975868|91.07%
View 042_tsvc_variants X rs138964358
dbSNP Clinvar
1409247 18.62 G A PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00554 0.12 0.40 None None None None None None CSF2RA|0.001975868|91.07%

CT45A5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2034920
dbSNP Clinvar
134948034 173.34 A G PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.83470 0.83470 0.22066 None None None None None None CT45A4|0.000504008|98.41%,CT45A5|0.000543107|98.22%

CT47B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs871733
dbSNP Clinvar
120008979 645.57 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.67894 0.67890 0.37382 None None None None None None CT47B1|0.000279084|99.49%
View 042_tsvc_variants X rs762182130
dbSNP Clinvar
120008980 36.46 G C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.70 0.00 None None None None None None CT47B1|0.000279084|99.49%

CXorf21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs887369
dbSNP Clinvar
30577846 330.25 A C PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.89722 0.89720 0.19572 None None None None None None CXorf21|0.11528982|48.25%

CXorf22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs6629019
dbSNP Clinvar
35938045 106.19 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.21219 0.21220 0.14205 None None None None None None CFAP47|0.008493492|82.15%
View 042_tsvc_variants X rs6629027
dbSNP Clinvar
36007614 211.41 T G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.27232 0.27230 0.16343 1.00 0.00 None None None None None None CFAP47|0.008493492|82.15%
View 042_tsvc_variants X rs2336029
dbSNP Clinvar
35969297 239.7 G A PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.18782 0.18780 0.10065 0.00 0.99 None None None None None None CFAP47|0.008493492|82.15%
View 042_tsvc_variants X rs6632450
dbSNP Clinvar
35993454 21.63 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.24768 0.24770 0.13025 None None None None None None CFAP47|0.008493492|82.15%
View 042_tsvc_variants X rs6632446
dbSNP Clinvar
35988996 96.68 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.20106 0.20110 0.08170 None None None None None None CFAP47|0.008493492|82.15%
View 042_tsvc_variants X rs148872967
dbSNP Clinvar
35938096 115.39 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.01192 0.01192 0.01392 None None None None None None CFAP47|0.008493492|82.15%

CXorf30

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs41309695
dbSNP Clinvar
36371719 83.49 T A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.17907 0.17910 0.07889 0.75 0.00 None None None None None None None
View 042_tsvc_variants X rs6632593
dbSNP Clinvar
36385156 185.31 A G PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.16397 0.16400 0.08032 None None None None None None None

CXorf36

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1132201
dbSNP Clinvar
45051111 208.24 C T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.43947 0.43950 0.28013 0.61 0.01 None None None None None None CXorf36|0.073887248|56.54%

CXorf56

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs5910611
dbSNP Clinvar
118678364 163.55 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.60583 0.60580 0.42658 None None None None None None CXorf56|0.412595461|20.01%

CXorf58

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2707164
dbSNP Clinvar
23928489 97.44 C T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.37007 0.37010 0.46161 0.19 0.55 None None None None None None CXorf58|0.013383355|78.26%

CXorf64

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2269777
dbSNP Clinvar
125955428 18.62 G A PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.31205 0.31210 0.37444 None None None None None None PRR32|0.002165243|90.54%
View 042_tsvc_variants X rs12835991
dbSNP Clinvar
125954964 526.43 C G PASS 0/1 249 NON_SYNONYMOUS_CODING MODERATE None 0.05007 0.05007 0.07306 0.05 0.77 None None None None None None PRR32|0.002165243|90.54%

CYSLTR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs320995
dbSNP Clinvar
77528317 577.08 G A PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.66305 0.66300 0.25994 None None None None None None CYSLTR1|0.093771876|52.42%

DCAF8L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs5926895
dbSNP Clinvar
27766045 382.28 A G PASS 0/1 225 NON_SYNONYMOUS_CODING MODERATE None 0.16609 0.16610 0.29167 0.53 0.01 None None None None None None DCAF8L2|0.000974393|95.61%

DHRSX

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1127915
dbSNP Clinvar
2161129 535.45 C G PASS 0/1 281 NON_SYNONYMOUS_CODING MODERATE None 0.56590 0.56590 0.23904 1.00 0.00 None None None None None None DHRSX|0.002517111|89.65%
View 042_tsvc_variants X rs3210910
dbSNP Clinvar
2139200 459.54 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.91534 0.91530 0.81 0.00 None None None None None None DHRSX|0.002517111|89.65%
View 042_tsvc_variants X rs12010
dbSNP Clinvar
2139186 167.08 C T PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.47145 0.47140 0.27597 0.17 0.16 None None None None None None DHRSX|0.002517111|89.65%

DKC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2728532
dbSNP Clinvar
153994596 1064.79 G T PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.99258 0.99260 0.00814 None None None None None None DKC1|0.779908958|6.32%

DMD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1800280
dbSNP Clinvar
31496350 1530.17 C T PASS 1/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.88185 0.88190 0.04318 1.00 0.00 None None None None None None DMD|0.999751041|0.27%
View 042_tsvc_variants X rs1800273
dbSNP Clinvar
31986607 577.08 G A PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.01298 0.01298 0.02662 0.02 0.76 None None None None None None DMD|0.999751041|0.27%
View 042_tsvc_variants X rs228406
dbSNP Clinvar
32503194 161.29 T C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.74834 0.74830 0.34978 0.48 0.00 None None None None None None DMD|0.999751041|0.27%
View 042_tsvc_variants X rs5927083
dbSNP Clinvar
32591931 210.62 T C PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.11046 0.11050 0.13351 None None None None None None DMD|0.999751041|0.27%

DNASE1L1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1130929
dbSNP Clinvar
153633359 1243.79 G C PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.69722 0.69720 0.31923 None None None None None None RPL10|0.202311641|36.48%,DNASE1L1|0.011941688|79.28%

DOCK11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2286977
dbSNP Clinvar
117700141 79.81 A G PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.38649 0.38650 0.30257 None None None None None None DOCK11|0.510737136|15.35%

DUSP21

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1045031
dbSNP Clinvar
44703935 223.48 T C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.24795 0.24790 0.24927 0.39 0.00 None None None None None None DUSP21|0.002952196|88.73%

EBP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs3048
dbSNP Clinvar
48382174 268.48 G T PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.00053 0.00053 0.29272 None None None None None None EBP|0.065187638|58.58%

EDA2R

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1385698
dbSNP Clinvar
65822607 1388.44 T C PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.92901 0.92900 0.08077 0.38 0.00 None None None None None None EDA2R|0.057303601|60.61%
View 042_tsvc_variants X rs1385699
dbSNP Clinvar
65824986 1229.56 C T PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.66543 0.66540 0.44012 0.84 0.00 None None None None None None EDA2R|0.057303601|60.61%

EIF2S3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs36018672
dbSNP Clinvar
24073761 664.5 C T PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.36318 0.36320 0.49986 None None None None None None EIF2S3|0.31714361|26.3%

ELF4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2181440
dbSNP Clinvar
129201179 231.31 C T PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.20450 0.20450 0.19015 None None None None None None ELF4|0.110553761|49.1%

EMD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs151074632
dbSNP Clinvar
153609287 92.33 G A PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.00026 0.00026 0.00095 None None None None None None EMD|0.064408891|58.76%

F9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs6048
dbSNP Clinvar
138633280 118.57 A G PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.14570 0.14570 0.23488 0.48 0.00 None None None None None None F9|0.170306612|40.27%

FAAH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs4826543
dbSNP Clinvar
57405163 183.14 T C PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.91815 0.91810 0.08823 None None None None None None FAAH2|0.005909057|84.68%
View 042_tsvc_variants X rs1367830
dbSNP Clinvar
57475132 306.1 T C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.47073 0.47070 0.49181 None None None None None None FAAH2|0.005909057|84.68%

FAM104B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1047054
dbSNP Clinvar
55172537 1405.9 G A PASS 0/1 267 None None None None None None None None None FAM104B|0.001440975|93.08%

FAM120C

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs2495783
dbSNP Clinvar
54209387 585.26 A G PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None FAM120C|0.175300288|39.59%

FAM155B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 042_tsvc_variants X rs1171942
dbSNP Clinvar
68725640 130.27 T C PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.64318 0.64320 0.48702 0.30 0.00 None None None None None None FAM155B|0.652325515|10.02%