+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 224

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 associated with diseases 60

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

PLCXD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs9785927
dbSNP Clinvar 		200860 347.33 T C PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.75719 0.75720 0.20111 None None None None None None None
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs9778721
dbSNP Clinvar 		1317404 94.95 T C PASS 0/1 68 None None None 0.50779 0.50780 0.44845 None None None None None None CRLF2|0.001160822|94.64%
View 042_tsvc_variants X rs972561
dbSNP Clinvar 		74523367 210.63 A G PASS 1/1 23 None None None 0.80265 0.80260 0.19998 None None None None None None UPRT|0.241278037|32.34%
View 042_tsvc_variants X rs9551
dbSNP Clinvar 		221705 114.73 G A PASS 0/1 30 None None None 0.24980 0.24980 0.29757 None None None None None None GTPBP6|0.003668889|87.5%
View 042_tsvc_variants X rs945815
dbSNP Clinvar 		150789950 195.16 C T PASS 1/1 21 None None None 0.75470 0.75470 0.28856 None None None None None None PASD1|0.000158076|99.84%
View 042_tsvc_variants X rs926563
dbSNP Clinvar 		138724725 547.13 G A PASS 1/1 60 None None None 0.99841 0.99840 None None None None None None MCF2|0.187938823|38.06%
View 042_tsvc_variants X rs917580
dbSNP Clinvar 		12838934 1075.37 A G PASS 1/1 117 None None None 0.49987 0.49990 0.42422 None None None None None None PRPS2|0.129227252|45.98%

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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs879113757
dbSNP Clinvar 		55172459 539.86 G T PASS 0/1 264 None None None None None None None None None FAM104B|0.001440975|93.08%

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%

HDHD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs868756
dbSNP Clinvar 		6975782 150.71 C G PASS 0/1 69 None None None 0.61801 0.61800 0.51 0.00 None None None None None None HDHD1|0.006081367|84.49%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs8680
dbSNP Clinvar 		23858452 163.82 G A PASS 0/1 98 None None None 0.64874 0.64870 0.48703 None None None None None None APOO|0.169681543|40.36%

KAL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs809446
dbSNP Clinvar 		8503641 1855.28 G A PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.48185 0.48190 0.44807 None None None None None None ANOS1|0.057660159|60.51%

PIR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs8094
dbSNP Clinvar 		15415583 73.26 C T PASS 0/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43815 0.43810 0.49068 None None None None None None PIR|0.499774334|15.81%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs808120
dbSNP Clinvar 		8504773 1242.06 G T PASS 1/1 129 None None None 0.49510 0.49510 0.42936 None None None None None None ANOS1|0.057660159|60.51%

KAL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs808119
dbSNP Clinvar 		8504833 1217.13 C T PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.48821 0.48820 0.43643 1.00 0.00 None None None None None None ANOS1|0.057660159|60.51%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs807178
dbSNP Clinvar 		107328436 229.84 G A PASS 0/1 88 None None None 0.81086 0.81090 0.23833 None None None None None None PSMD10|0.496564196|16%

IRS4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs80131334
dbSNP Clinvar 		107978342 670.56 T A PASS 0/1 347 SYNONYMOUS_CODING LOW None 0.04530 0.04530 0.00379 None None None None None None IRS4|0.092969045|52.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs798169
dbSNP Clinvar 		15863953 622.64 A T PASS 1/1 82 None None None 0.99894 0.99890 None None None None None None AP1S2|0.649662017|10.13%
View 042_tsvc_variants X rs795489
dbSNP Clinvar 		23700693 345.91 A G PASS 0/1 132 None None None 0.41219 0.41220 0.37720 None None None None None None PRDX4|0.171468711|40.1%

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 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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs7886344
dbSNP Clinvar 		48116786 203.33 C G PASS 0/1 90 None None None 0.30649 0.30650 0.38479 None None None None None None SSX1|0.000674357|97.39%
View 042_tsvc_variants X rs7885967
dbSNP Clinvar 		103268241 263.97 G A PASS 0/1 89 START_GAINED LOW None 0.30861 0.30860 0.30267 None None None None None None H2BFWT|0.000409508|98.89%
View 042_tsvc_variants X rs7884806
dbSNP Clinvar 		71379702 1409.13 T C PASS 1/1 147 None None None 0.36344 0.36340 0.41496 None None None None None None None
View 042_tsvc_variants X rs7880917
dbSNP Clinvar 		71379853 1221.96 C T PASS 1/1 131 None None None 0.36344 0.36340 0.41428 None None None None None None None
View 042_tsvc_variants X rs7877748
dbSNP Clinvar 		79283388 119.53 T C PASS 0/1 65 None None None 0.41616 0.41620 None None None None None None TBX22|0.144424463|43.82%

RPGR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs78736275
dbSNP Clinvar 		38144988 164.35 C T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.11020 0.11020 0.05606 None None None None None None RPGR|0.02837199|70.26%

VCX2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs78723459
dbSNP Clinvar 		8138171 81.94 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.00 None None None None None None VCX2|0.001383318|93.45%

FMR1NB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs782812437
dbSNP Clinvar 		147063029 496.38 C T PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.84 None None None None None None FMR1NB|0.000454015|98.67%

NUDT11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs782744505,rs78182391
dbSNP Clinvar 		51239295 604.7 AT... A PASS 1/1 75 FRAME_SHIFT+START_LOST HIGH None 0.63735 0.63740 0.07187 None None None None None None NUDT11|0.016769294|76.04%

MAGEA6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs782517657
dbSNP Clinvar 		151870049 193.79 A G PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.67 None None None None None None MAGEA6|0.001153061|94.7%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs782108529
dbSNP Clinvar 		148713418 113.15 T TC... PASS 0/1 145 None None None 0.46146 0.46150 None None None None None None TMEM185A|0.185172519|38.34%

MAP3K15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs776692322
dbSNP Clinvar 		19390814 914.48 T C PASS 0/1 469 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.02 None None None None None None MAP3K15|0.054956774|61.21%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs77485258,rs5904376
dbSNP Clinvar 		153178459 637.15 G GC PASS 1/1 72 None None None 0.99974 0.99970 0.00148 None None None None None None ARHGAP4|0.028368935|70.27%

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 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%

PCDH11X
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs768994403
dbSNP Clinvar 		91873510 78.57 C T PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None PCDH11X|0.213449585|35.17%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs763183
dbSNP Clinvar 		54840013 426.35 C T PASS 0/1 112 None None None 0.46225 0.46230 0.38824 None None None None None None MAGED2|0.065752049|58.42%
View 042_tsvc_variants X rs762733
dbSNP Clinvar 		152807425 385.44 G A PASS 1/1 41 None None None 0.57007 0.57010 0.37684 None None None None None None ATP2B3|0.203946244|36.25%

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 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%

RPS4X
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs7580
dbSNP Clinvar 		71493691 614.36 C T PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.30305 0.30300 0.45327 None None None None None None PIN4|0.129268487|45.97%,RPS4X|0.19013625|37.79%

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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs741932
dbSNP Clinvar 		48759204 221.09 C T PASS 0/1 160 None None None 0.62543 0.62540 0.42639 None None None None None None PQBP1|0.1792409|39.11%

TMEM187
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs7350355
dbSNP Clinvar 		153247745 247.81 A G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.54013 0.54010 0.32000 0.29 0.00 None None None None None None TMEM187|0.005010857|85.79%

IRS4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs73253702
dbSNP Clinvar 		107979437 155.47 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.04980 0.04980 0.06225 None None None None None None IRS4|0.092969045|52.62%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs73244173
dbSNP Clinvar 		152225379 125.31 C A PASS 0/1 85 None None None 0.16795 0.16790 0.33106 None None None None None None PNMA3|0.000835607|96.46%
View 042_tsvc_variants X rs73189116
dbSNP Clinvar 		17073092 115.84 C T PASS 0/1 53 None None None 0.17245 0.17250 0.17883 None None None None None None REPS2|0.187594348|38.1%

HCFC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs730106
dbSNP Clinvar 		153221657 466.14 T C PASS 0/1 285 SYNONYMOUS_CODING LOW None 0.58517 0.58520 0.36361 None None None None None None HCFC1|0.161458383|41.35%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs727079
dbSNP Clinvar 		47920356 1041.5 A G PASS 1/1 110 None None None 0.99868 0.99870 0.00370 None None None None None None ZNF630|0.00523437|85.53%
View 042_tsvc_variants X rs72151348,rs530111872
dbSNP Clinvar 		153068676 548.77 CGAG C PASS 1/1 60 None None None 0.26649 0.26650 None None None None None None PDZD4|0.130663739|45.79%
View 042_tsvc_variants X rs717105
dbSNP Clinvar 		152483030 258.38 G A PASS 0/1 134 START_GAINED LOW None 0.18702 0.18700 0.08375 None None None None None None MAGEA1|0.001650102|92.12%
View 042_tsvc_variants X rs708463
dbSNP Clinvar 		119005705 1895.9 C G PASS 1/1 201 None None None 0.80371 0.80370 None None None None None None RNF113A|0.11510396|48.29%,NDUFA1|0.056260009|60.85%

LHFPL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs7064462
dbSNP Clinvar 		111914244 195.79 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.23073 0.23070 0.27615 None None None None None None LHFPL1|0.340921365|24.8%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs7063300
dbSNP Clinvar 		153577719 1175.84 G A PASS 1/1 130 None None None 0.14702 0.14700 0.33183 None None None None None None FLNA|0.71803245|8.01%

PIN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs7058353
dbSNP Clinvar 		71401614 1617.94 C A PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.71285 0.71280 0.15753 0.61 0.00 None None None None None None PIN4|0.129268487|45.97%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs7049560
dbSNP Clinvar 		2635620 56.13 C G PASS 0/1 43 None None None 0.01478 0.01478 0.01239 None None None None None None CD99|0.003192915|88.33%
View 042_tsvc_variants X rs6654760
dbSNP Clinvar 		12633034 98.26 T C PASS 0/1 62 None None None 0.58146 0.58150 0.32888 None None None None None None FRMPD4|0.326594938|25.72%
View 042_tsvc_variants X rs66538318
dbSNP Clinvar 		2209672 250.85 C G PASS 0/1 142 None None None 0.28494 0.28490 0.37606 None None None None None None DHRSX|0.002517111|89.65%
View 042_tsvc_variants X rs6651585
dbSNP Clinvar 		38182792 200.44 C T PASS 0/1 104 None None None 0.37192 0.37190 0.21044 None None None None None None RPGR|0.02837199|70.26%
View 042_tsvc_variants X rs6646189
dbSNP Clinvar 		117532516 312.64 C T PASS 0/1 147 None None None 0.31974 0.31970 None None None None None None WDR44|0.359669062|23.45%

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%

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 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%

PLXNB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6643791
dbSNP Clinvar 		153039502 319.84 G C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.77431 0.77430 0.24837 0.18 0.02 None None None None None None PLXNB3|0.0327359|68.27%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6640544
dbSNP Clinvar 		9859197 483.85 A G PASS 1/1 49 None None None 0.81298 0.81300 0.21360 None None None None None None SHROOM2|0.057329178|60.6%

SHROOM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6640543
dbSNP Clinvar 		9859098 550.19 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.86199 0.86200 0.15822 None None None None None None SHROOM2|0.057329178|60.6%

HUWE1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6638360
dbSNP Clinvar 		53641647 1256.11 T C PASS 1/1 132 SYNONYMOUS_CODING LOW None 0.38967 0.38970 0.37792 None None None None None None HUWE1|0.636259624|10.58%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6635268
dbSNP Clinvar 		135438388 279.06 A G PASS 1/1 29 None None None 0.47364 0.47360 0.49500 None None None None None None ADGRG4|0.00835627|82.29%

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 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

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 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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6632426
dbSNP Clinvar 		35969499 268.87 A T PASS 0/1 113 None None None 0.00371 0.00371 0.17852 None None None None None None CFAP47|0.008493492|82.15%
View 042_tsvc_variants X rs6632131
dbSNP Clinvar 		34962909 183.46 A C PASS 0/1 101 None None None 0.47709 0.47710 0.30575 None None None None None None FAM47B|0.000999136|95.44%
View 042_tsvc_variants X rs6629068
dbSNP Clinvar 		36303871 68.18 T C PASS 0/1 32 None None None 0.32212 0.32210 None None None None None None None

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 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 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%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6627251
dbSNP Clinvar 		151817820 1339.78 C T PASS 1/1 150 None None None 0.33881 0.33880 0.31677 None None None None None None GABRQ|0.013640362|78.1%

PASD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6627174
dbSNP Clinvar 		150840185 339.21 T C PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.39417 0.39420 0.17987 None None None None None None PASD1|0.000158076|99.84%

NHSL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6624597
dbSNP Clinvar 		71363415 484.6 C T PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.92662 0.92660 0.07919 None None None None None None NHSL2|0.147177551|43.44%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6623751
dbSNP Clinvar 		85906213 106.99 C T PASS 0/1 50 None None None 0.48080 0.48080 0.32065 None None None None None None DACH2|0.697778795|8.56%

MORC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6622126
dbSNP Clinvar 		106200202 459.4 G A PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.75152 0.75150 0.43113 0.22 0.00 None None None None None None MORC4|0.183658843|38.58%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6611330
dbSNP Clinvar 		46949403 759.15 C T PASS 1/1 76 None None None 0.00132 0.00133 0.42147 None None None None None None RGN|0.261242809|30.65%
View 042_tsvc_variants X rs6611055
dbSNP Clinvar 		44833841 365.8 C A PASS 0/1 118 None None None 0.75417 0.75420 0.33667 None None None None None None KDM6A|0.845633626|4.72%
View 042_tsvc_variants X rs6609714
dbSNP Clinvar 		48206911 115.92 G A PASS 0/1 39 None None None 0.32450 0.32450 0.42488 None None None None None None SSX3|0.00076972|96.87%

WDR44
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6603401
dbSNP Clinvar 		117528142 62.51 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.57669 0.57670 0.44107 None None None None None None WDR44|0.359669062|23.45%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6603272
dbSNP Clinvar 		1471138 582.17 G T PASS 0/1 187 None None None 0.70927 0.70930 0.20711 None None None None None None IL3RA|0.000832995|96.49%

OR13H1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs655415
dbSNP Clinvar 		130678844 103.58 A C PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.69589 0.69590 0.30058 1.00 0.00 None None None None None None OR13H1|0.019316355|74.52%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6526806
dbSNP Clinvar 		28807442 59.45 G A PASS 0/1 35 None None None 0.73510 0.73510 0.36209 None None None None None None IL1RAPL1|0.968329118|1.75%

PNMA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6526155
dbSNP Clinvar 		152226542 138.11 T C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.90384 0.90380 0.11117 1.00 0.00 None None None None None None PNMA3|0.000835607|96.46%

ZNF185
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6526142
dbSNP Clinvar 		152083059 502.84 G A PASS 0/1 203 NON_SYNONYMOUS_CODING MODERATE None 0.25483 0.25480 0.30679 0.01 0.12 None None None None None None ZNF185|0.008033499|82.61%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6526141
dbSNP Clinvar 		152083012 500.76 G A PASS 0/1 203 None None None 0.25483 0.25480 0.30144 None None None None None None ZNF185|0.008033499|82.61%
View 042_tsvc_variants X rs6526140
dbSNP Clinvar 		152083006 496.14 G C PASS 0/1 204 None None None 0.25483 0.25480 0.30411 None None None None None None ZNF185|0.008033499|82.61%

PIN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6525589
dbSNP Clinvar 		71401607 1516.54 G A PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.71285 0.71280 0.15763 0.47 0.00 None None None None None None PIN4|0.129268487|45.97%

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 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%

PCSK1N
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6520383
dbSNP Clinvar 		48690416 240.65 G T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.73960 0.73960 None None None None None None PCSK1N|0.012600198|78.81%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6417923
dbSNP Clinvar 		47086347 946.95 G A PASS 0/1 146 None None None 0.62172 0.62170 0.27701 None None None None None None CDK16|0.943576354|2.39%

MAOA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs6323
dbSNP Clinvar 		43591036 481.19 G T PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.62490 0.62490 0.24150 None None None None None None MAOA|0.148857367|43.16%

RPGR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs62640587
dbSNP Clinvar 		38163957 152.16 T C PASS 0/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00010 0.43 0.12 None None None None None None RPGR|0.02837199|70.26%
View 042_tsvc_variants X rs62635003
dbSNP Clinvar 		38156660 133.78 T C PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.11020 0.11020 0.05473 0.19 0.03 None None None None None None RPGR|0.02837199|70.26%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs62601929
dbSNP Clinvar 		142122058 179.92 T G PASS 0/1 86 None None None 0.32318 0.32320 0.35014 None None None None None None SPANXN4|0.000677744|97.38%

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%

SHROOM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 rs61741856
dbSNP Clinvar 		9912752 400.19 C T PASS 0/1 171 SYNONYMOUS_CODING LOW None 0.00185 0.00185 0.00540 None None None None None None SHROOM2|0.057329178|60.6%