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:
AC002365.1, ACOT9, ACRC, AFF2, AKAP17A, ALG13, APLN, AR, ARL13A, ARMCX2, ARMCX4, ARSE, ARSF, ARSH, ASMTL, ATG4A, ATP11C, ATP2B3, ATP6AP1, ATP7A, BCOR, BCORL1, BEX2, BEX4, BGN, BRWD3, BTK, C1GALT1C1, CA5B, CAPN6, CCDC160, CD40LG, CD99, CENPI, CFP, CHDC2, CHRDL1, CITED1, CLCN4, COL4A6, CPXCR1, CRLF2, CSAG1, CSF2RA, CT45A5, CT47B1, CTAG2, CTPS2, CXorf21, CXorf22, CXorf24, CXorf30, CXorf38, CXorf40A, CXorf56, CXorf58, CXorf64, CXorf65, CXorf66, CYSLTR1, DCAF12L1, DCAF12L2, DCAF8L2, DHRSX, DKC1, DLG3, DMD, DNASE1L1, DOCK11, DRP2, EDA2R, EFHC2, EGFL6, EIF2S3, ELK1, F9, FAAH2, FAM104B, FAM120C, FAM127B, FAM155B, FAM46D, FAM47A, FAM58A, FAM9A, FATE1, FGF13, FMR1NB, FOXR2, FRMPD4, G6PD, GABRE, GABRQ, GAGE12J, GDPD2, GLRA4, GPC4, GPR101, GPR112, GPR173, GPR174, GPR50, GPR82, GRIA3, GRIPAP1, GTPBP6, GUCY2F, GYG2, H2BFM, H2BFWT, HCFC1, HDAC8, HDHD1, HDX, HEPH, HUWE1, IDS, IGSF1, IL1RAPL2, IL3RA, IRAK1, ITIH6, KAL1, KCNE1L, KDM6A, KIAA1210, KIF4A, KLHL4, LAMP2, LCA10, LONRF3, MAGEA1, MAGEA10, MAGEA11, MAGEA12, MAGEA4, MAGEA8, MAGEB10, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC2, MAGEC3, MAGED1, MAGEH1, MAGIX, MAMLD1, MAOA, MAP3K15, MAP7D2, MAP7D3, MBTPS2, MCF2, MED12, MORC4, MPP1, MTMR1, MXRA5, NAP1L2, NAP1L3, NHS, NHSL2, NLGN3, NOX1, NRK, NSDHL, NUDT11, NXF5, OFD1, OPN1LW, OR13H1, OTC, P2RY4, PAGE1, PAGE2, PAGE3, PASD1, PCSK1N, PDHA1, PHKA1, PIN4, PIR, PJA1, PLCXD1, PLP2, PLXNA3, PLXNB3, PNMA3, POF1B, POLA1, POU3F4, PPP2R3B, PRKX, PRPS2, PRRG3, PTCHD1, RAB40A, RAI2, RBBP7, RBM3, RBMX, RBMXL3, RGAG1, RIBC1, RP11-706O15.1, RPA4, RPGR, RPL10, RPL36A, RPS4X, SAGE1, SATL1, SCML2, SERPINA7, SH3KBP1, SHROOM2, SHROOM4, SLC25A43, SLC25A5, SLC6A14, SLC9A7, SLITRK2, SLITRK4, SOWAHD, SPANXC, SPANXD, SPANXN2, SPANXN5, SRPK3, SRPX, SSX5, STARD8, SYN1, SYTL4, TAB3, TAF7L, TBC1D25, TBL1X, TCEAL2, TCEAL4, TCEAL6, TCEANC, TENM1, TEX11, TEX13A, TFE3, TGIF2LX, TIMM17B, TLR8, TNMD, TRPC5, TXLNG, UBA1, UBE2NL, UBL4A, UPRT, USP11, USP26, VBP1, VCX, VCX2, VMA21, WDR13, WDR44, WWC3, XAGE3, XG, XPNPEP2, ZBTB33, ZCCHC16, ZCCHC5, ZMAT1, ZMYM3, ZNF185, ZNF280C, ZNF645, ZRSR2, ZXDB,

Genes at Omim

AFF2, ALG13, AR, ARSE, ATP11C, ATP2B3, ATP6AP1, ATP7A, BCOR, BGN, BRWD3, BTK, C1GALT1C1, CHRDL1, CLCN4, COL4A6, CSF2RA, CXorf56, DKC1, DLG3, DMD, EIF2S3, F9, FAM58A, FRMPD4, G6PD, GPR101, GRIA3, HCFC1, HDAC8, HUWE1, IDS, IGSF1, KAL1, KDM6A, KIF4A, LAMP2, MAMLD1, MAOA, MBTPS2, MED12, NHS, NLGN3, NSDHL, OFD1, OPN1LW, OTC, PDHA1, PHKA1, POLA1, POU3F4, PTCHD1, RBMX, RPGR, RPL10, SHROOM4, SYN1, TEX11, TFE3, UBA1, VMA21, XG, XPNPEP2,
AFF2 Mental retardation, X-linked, FRAXE type, 309548 (3)
ALG13 Epileptic encephalopathy, early infantile, 36, 300884 (3)
?Congenital disorder of glycosylation, type Is, 300884 (3)
AR Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
Hypospadias 1, X-linked, 300633 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (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)
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)
BTK Agammaglobulinemia, X-linked 1, 300755 (3)
Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3)
C1GALT1C1 Tn polyagglutination syndrome, somatic, 300622 (3)
CHRDL1 Megalocornea 1, X-linked 309300 (3)
CLCN4 Raynaud-Claes syndrome, 300114 (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)
DLG3 Mental retardation, X-linked 90, 300850 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
EIF2S3 MEHMO syndrome, 300148 (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)
FAM58A STAR syndrome, 300707 (3)
FRMPD4 Mental retardation, X-linked 104, 300983 (3)
G6PD Hemolytic anemia, G6PD deficient (favism), 300908 (3)
{Resistance to malaria due to G6PD deficiency}, 611162 (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)
HDAC8 Cornelia de Lange syndrome 5, 300882 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IDS Mucopolysaccharidosis II, 309900 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
KAL1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KDM6A Kabuki syndrome 2, 300867 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
LAMP2 Danon disease, 300257 (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)
MED12 Lujan-Fryns syndrome, 309520 (3)
Ohdo syndrome, X-linked, 300895 (3)
Opitz-Kaveggia syndrome, 305450 (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)
OFD1 Joubert syndrome 10, 300804 (3)
Orofaciodigital syndrome I, 311200 (3)
?Retinitis pigmentosa 23, 300424 (3)
Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)
OPN1LW Blue cone monochromacy, 303700 (3)
Colorblindness, protan, 303900 (3)
OTC Ornithine transcarbamylase deficiency, 311250 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PHKA1 Muscle glycogenosis, 300559 (3)
POLA1 Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3)
POU3F4 Deafness, X-linked 2, 304400 (3)
PTCHD1 {Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (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)
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TFE3 Renal cell carcinoma, papillary, 1, 300854 (3)
UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
VMA21 Myopathy, X-linked, with excessive autophagy, 310440 (3)
XG [Blood group, XG system] (3)
XPNPEP2 {Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)

Genes at Clinical Genomics Database

AFF2, ALG13, AR, ARSE, ATP2B3, ATP7A, BCOR, BRWD3, BTK, CD40LG, CFP, CHRDL1, COL4A6, CSF2RA, DKC1, DLG3, DMD, F9, FAM58A, G6PD, GPR101, GRIA3, HCFC1, HDAC8, HUWE1, IDS, IGSF1, KDM6A, KIF4A, LAMP2, MAMLD1, MAOA, MBTPS2, MED12, NHS, NLGN3, NSDHL, NXF5, OFD1, OPN1LW, OTC, PDHA1, PHKA1, POF1B, POU3F4, PTCHD1, RBMX, RPGR, SERPINA7, SHROOM4, SYN1, TENM1, TEX11, UBA1, VMA21, XG, XPNPEP2,
AFF2 Premature ovarian failure
ALG13 Epileptic encephalopathy, early infantile, 36
AR Androgen insensitivity
Androgen insensitivity, partial
ARSE Chondrodysplasia punctata 1, X-linked recessive
ATP2B3 Spinocerebellar ataxia, X-linked 1
ATP7A Menkes disease
BCOR Microphthalmia, syndromic 2
Oculofaciocardiodental syndrome
BRWD3 Mental retardation, X-linked 93
BTK Agammaglobulinemia, X-linked
Agammaglobulinemia and isolated hormone deficiency
Hypogammaglobulinemia, X-linked
CD40LG Immunodeficiency, with hyper-IgM, type 1
CFP Properdin deficiency, X-linked
CHRDL1 Megalocornea 1, X-linked
COL4A6 Deafness, X-linked, with cochlear malformation
CSF2RA Surfactant metabolism dysfunction, pulmonary, 4
DKC1 Dyskeratosis congenita, X-linked
Hoyeraal-Hreidarsson syndrome
DLG3 Mental retardation, X-linked 90
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
F9 Hemophilia B
Thrombophilia, X-linked, due to factor IX defect
Warfarin sensitivity
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
G6PD Glucose-6-phosphate dehydrogenase deficiency
GPR101 Pituitary adenoma, growth hormone secreting, 2
GRIA3 Mental retardation, X-linked 94
HCFC1 Combined methylmalonic acidemia and hyperhomocysteinemia
HDAC8 Cornelia de Lange syndrome 3
HUWE1 Mental retardation, X-linked syndromic, Turner type
IDS Mucopolysaccharidosis type II
IGSF1 Central hypothyroidism and testicular enlargement
KDM6A Kabuki syndrome 2
KIF4A Mental retardation, X-linked 100
LAMP2 Danon disease
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
MED12 Lujan-Fryns syndrome
Opitz-Kaveggia syndrome
Mental retardation, X-linked, with Marfanoid habitus
FG syndrome
Ohdo syndrome
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
NXF5 Familial heart block and focal segmental glomerulosclerosis
OFD1 Orofaciodigital syndrome 1
Simpson-Golabi-Behmel syndrome type 2
Joubert syndrome 10
Retinitis pigmentosa 23
OPN1LW Colorblindness, partial, protan series
Blue cone monochromacy
Red cone polymorphism
OTC Ornithine transcarbamylase deficiency
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
PHKA1 Glycogen storage disease, type Ixd
POF1B Premature ovarian failure 2B
POU3F4 Deafness, X-linked 2
PTCHD1 Autism susceptibility, X-linked 4
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RPGR Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
SERPINA7 Thyroxine-binding globulin deficiency
Thyroxine-binding globulin excess
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
TENM1 Microphthalmia, isolated, with coloboma 9
TEX11 Spermatogenic failure, X-linked 2
UBA1 Spinal muscular atrophy, X-linked 2, infantile
VMA21 Myopathy, X-linked, with excessive autophagy
XG XG blood group
XPNPEP2 Angioedema induced by ACE inhibitors, susceptibility to

Genes at HGMD

Summary

Number of Variants: 3228
Number of Genes: 279

Export to: CSV

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 combined sample_94.variant39 X rs5934730
dbSNP Clinvar
9935526 4172.22 G T PASS 0/1 293 SYNONYMOUS_CODING LOW None 0.42967 0.42970 None None None None None None None
View combined sample_94.variant39 X rs5934731
dbSNP Clinvar
9935844 2487.4 C T PASS 0/1 176 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 combined sample_94.variant39 X rs56378612
dbSNP Clinvar
23723711 1498.46 C G PASS 0/1 86 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02305 0.02305 0.02471 0.21 0.03 None None None None None None ACOT9|0.123415391|46.9%

ACRC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs143483517
dbSNP Clinvar
70828934 1500.78 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.00132 0.00133 0.00161 None None None None None None ACRC|0.001659651|92.06%

AFF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs12011040
dbSNP Clinvar
148035200 1244.05 G A PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.14199 0.14200 0.17211 None None None None None None AFF2|0.928741292|2.76%
View combined sample_94.variant39 X rs241084
dbSNP Clinvar
147800748 865.46 A G PASS 1/1 119 None None None 0.28106 0.28110 0.30 0.00 None None None None None None AFF2|0.928741292|2.76%

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 combined sample_94.variant39 X rs28661622
dbSNP Clinvar
1719897 3720.99 C G PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.53355 0.53350 0.48013 0.48 0.00 None None None None None None AKAP17A|0.002882858|88.87%
View combined sample_94.variant39 X rs58902273
dbSNP Clinvar
1718360 2089.98 G A PASS 0/1 162 None None None 0.49361 0.49360 0.43836 0.03 0.00 None None None None None None AKAP17A|0.002882858|88.87%
View combined sample_94.variant39 X rs6644621
dbSNP Clinvar
1713021 960.47 C T PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.55931 0.55930 0.45884 None None None None None None AKAP17A|0.002882858|88.87%

ALG13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs797044689
dbSNP Clinvar
110987953 512.11 T TACC PASS 0/1 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ALG13|0.14657544|43.52%
View combined sample_94.variant39 X rs7063657
dbSNP Clinvar
110963365 1335.75 A G PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.10967 0.10970 0.11598 None None None None None None ALG13|0.14657544|43.52%

APLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs3115758
dbSNP Clinvar
128781864 1393.19 C A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.46861 0.46860 1.00 0.00 None None None None None None APLN|0.015985441|76.47%

AR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs780052930
dbSNP Clinvar
66766356 254.3 TG... TG... PASS 0/1 21 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.07586 None None None None None None AR|0.999436019|0.35%
View combined sample_94.variant39 X rs6152
dbSNP Clinvar
66765627 4163.58 G A PASS 0/1 178 SYNONYMOUS_CODING LOW None 0.23868 0.23870 0.31894 None None None None None None AR|0.999436019|0.35%
View combined sample_94.variant39 X . 66765158 827.65 TG... TG... PASS 5/13 28 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None AR|0.999436019|0.35%

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 combined sample_94.variant39 X rs3934462
dbSNP Clinvar
100243459 2205.87 G T PASS 0/1 107 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 combined sample_94.variant39 X rs6523438
dbSNP Clinvar
100245606 3278.86 A G PASS 0/1 168 None None None 0.85642 0.85640 0.16250 None None None None None None ARL13A|0.006011211|84.59%

ARMCX2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs3850315
dbSNP Clinvar
100911066 2007.54 C T PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.96689 0.96690 0.05737 None None None None None None ARMCX2|0.023937868|72.22%

ARMCX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs5991911
dbSNP Clinvar
100748078 1843.79 A G PASS 1/1 131 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View combined sample_94.variant39 X rs5951332
dbSNP Clinvar
100743826 2206.21 A G PASS 1/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.61934 0.61930 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View combined sample_94.variant39 X rs5951333
dbSNP Clinvar
100745825 1889.89 T C PASS 1/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.66199 0.66200 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View combined sample_94.variant39 X rs61736018
dbSNP Clinvar
100747694 2381.07 G C PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.17378 0.17380 0.69 None None None None None None ARMCX4|0.006015436|84.57%
View combined sample_94.variant39 X rs963618
dbSNP Clinvar
100743037 1996.69 C T PASS 1/1 177 START_GAINED LOW None 0.65987 0.65990 None None None None None None ARMCX4|0.006015436|84.57%
View combined sample_94.variant39 X rs3174476
dbSNP Clinvar
100749585 1817.27 C T PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.44106 0.44110 None None None None None None ARMCX4|0.006015436|84.57%
View combined sample_94.variant39 X rs5951336
dbSNP Clinvar
100749127 823.09 A G PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.69166 0.69170 0.00 None None None None None None ARMCX4|0.006015436|84.57%
View combined sample_94.variant39 X rs149021828
dbSNP Clinvar
100748324 1916.34 G C PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.02887 0.02887 0.90 None None None None None None ARMCX4|0.006015436|84.57%

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 combined sample_94.variant39 X rs11222
dbSNP Clinvar
2852951 1293.52 G A PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.56583 0.56580 0.45809 None None None None None None ARSE|0.002669381|89.33%
View combined sample_94.variant39 X rs35143646
dbSNP Clinvar
2856155 521.32 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.57457 0.57460 0.49223 0.18 0.98 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 combined sample_94.variant39 X rs5983003
dbSNP Clinvar
3002687 1244.19 A G PASS 0/1 88 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 combined sample_94.variant39 X rs5939407
dbSNP Clinvar
2942109 1712.2 T C PASS 0/1 128 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 combined sample_94.variant39 X rs5948863
dbSNP Clinvar
1546876 5743.76 A G PASS 0/1 338 SYNONYMOUS_CODING LOW None 0.71366 0.71370 0.35645 None None None None None None ASMTL|0.001996891|91.03%
View combined sample_94.variant39 X rs4503285
dbSNP Clinvar
1537881 968.72 C T PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.26558 0.26560 0.25753 0.03 0.03 None None None None None None ASMTL|0.001996891|91.03%
View combined sample_94.variant39 X rs5949099
dbSNP Clinvar
1546792 5154.23 G A PASS 0/1 293 SYNONYMOUS_CODING LOW None 0.69669 0.69670 0.36851 None None None None None None ASMTL|0.001996891|91.03%
View combined sample_94.variant39 X rs6644873
dbSNP Clinvar
1537002 3958.77 C G PASS 1/1 162 SYNONYMOUS_CODING LOW None 0.66933 0.66930 0.39586 None None None None None None ASMTL|0.001996891|91.03%

ATG4A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs79788197
dbSNP Clinvar
107380393 1600.08 A C PASS 0/1 121 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01377 0.01377 0.01288 0.32 1.00 None None None None None None ATG4A|0.459815165|17.69%

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 combined sample_94.variant39 X rs2491014
dbSNP Clinvar
138897130 652.51 A C PASS 1/1 58 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 combined sample_94.variant39 X rs2269415
dbSNP Clinvar
152823728 3194.49 G C PASS 0/1 197 SYNONYMOUS_CODING LOW None 0.47391 0.47390 0.38938 None None None None None None ATP2B3|0.203946244|36.25%
View combined sample_94.variant39 X rs3020949
dbSNP Clinvar
152815089 2817.76 A G PASS 1/1 235 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 combined sample_94.variant39 X rs28497482
dbSNP Clinvar
153657083 5915.08 A G PASS 1/1 324 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 combined sample_94.variant39 X rs4826245
dbSNP Clinvar
77298857 1943.18 G A PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATP7A|0.267298986|30.07%

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 combined sample_94.variant39 X rs6520618
dbSNP Clinvar
39932907 3406.89 T C PASS 0/1 192 SYNONYMOUS_CODING LOW None 0.52397 0.52400 0.36152 None None None None None None BCOR|0.481414102|16.71%
View combined sample_94.variant39 X rs5917933
dbSNP Clinvar
39933339 3037.97 A G PASS 1/1 294 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 combined sample_94.variant39 X rs4830173
dbSNP Clinvar
129147079 2991.57 T C PASS 1/1 200 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 combined sample_94.variant39 X rs7557
dbSNP Clinvar
102564583 2311.68 A G PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.83285 0.83280 0.30247 None None None None None None BEX2|0.018970374|74.68%

BEX4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X . 102471092 406.22 A C PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.73 None None None None None None BEX4|0.007503312|83.06%

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 combined sample_94.variant39 X rs2070933
dbSNP Clinvar
152771533 2988.03 C T PASS 0/1 145 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05722 0.05722 0.03844 None None None None None None BGN|0.555214937|13.51%
View combined sample_94.variant39 X rs4833
dbSNP Clinvar
152770230 6513.29 G A PASS 0/1 354 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 combined sample_94.variant39 X rs3122407
dbSNP Clinvar
79943569 1700.72 T C PASS 1/1 98 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%

BTK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs1135363
dbSNP Clinvar
100608191 1966.8 G A PASS 0/1 107 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50808 0.50810 0.39042 None None None None None None BTK|0.867331978|4.3%

C1GALT1C1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs17261572
dbSNP Clinvar
119760629 1909.18 A T PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.14755 0.14750 0.15983 1.00 0.00 None None None None None None C1GALT1C1|0.400695181|20.72%

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 combined sample_94.variant39 X rs1808
dbSNP Clinvar
15800751 4270.15 G A PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.34782 0.34780 0.31696 None None None None None None CA5B|0.115811341|48.17%

CAPN6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs17882737
dbSNP Clinvar
110496391 1932.6 G A PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.08318 0.08318 0.09410 None None None None None None CAPN6|0.398354771|20.87%
View combined sample_94.variant39 X rs12013711
dbSNP Clinvar
110494841 1064.58 C G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.19603 0.19600 0.24198 1.00 0.00 None None None None None None CAPN6|0.398354771|20.87%

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 combined sample_94.variant39 X rs2428577
dbSNP Clinvar
133379551 868.36 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%

CD40LG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs1126535
dbSNP Clinvar
135730555 644.89 T C PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.22490 0.22490 0.17258 None None None None None None CD40LG|0.703733653|8.39%

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 combined sample_94.variant39 X rs2236738
dbSNP Clinvar
2609983 2249.13 T C PASS 0/1 96 None None None 0.45487 0.45490 0.39794 None None None None None None CD99|0.003192915|88.33%
View combined sample_94.variant39 X rs4717
dbSNP Clinvar
2656283 964.23 A T PASS 0/1 34 None None None 0.05911 0.05911 0.05047 0.02 0.49 None None None None None None CD99|0.003192915|88.33%
View combined sample_94.variant39 X rs311083
dbSNP Clinvar
2645366 3733.3 G C PASS 0/1 119 None None None 0.61641 0.61640 0.29351 0.54 None None None None None None CD99|0.003192915|88.33%
View combined sample_94.variant39 X rs4793
dbSNP Clinvar
2656261 1234.19 A G PASS 0/1 41 None None None 0.06669 0.06669 0.05693 0.05 0.07 None None None None None None CD99|0.003192915|88.33%
View combined sample_94.variant39 X rs5939299
dbSNP Clinvar
2609717 2215.48 G T PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.24321 0.24320 0.12 0.02 None None None None None None CD99|0.003192915|88.33%

CENPI

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs2273380
dbSNP Clinvar
100395663 3142.22 G T PASS 0/1 163 SYNONYMOUS_CODING LOW None 0.32795 0.32790 0.30702 None None None None None None CENPI|0.118322957|47.69%

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 combined sample_94.variant39 X rs1048118
dbSNP Clinvar
47483800 2308.93 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.20689 0.20690 0.23819 None None None None None None CFP|0.039345456|66%

CHDC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs752519501,rs112700338
dbSNP Clinvar
36162684 1671.82 C CTG PASS 1/1 57 FRAME_SHIFT+STOP_GAINED HIGH None 0.39417 0.39420 0.30015 None None None None None None None
View combined sample_94.variant39 X rs6632464
dbSNP Clinvar
36057261 1272.52 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.26782 0.26780 None None None None None None None

CHRDL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs5943053
dbSNP Clinvar
109931856 2031.29 T C PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.38782 0.38780 0.46246 None None None None None None CHRDL1|0.341792402|24.72%
View combined sample_94.variant39 X rs12688415
dbSNP Clinvar
109937543 825.15 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.01404 0.01404 0.01155 0.03 1.00 None None None None None None CHRDL1|0.341792402|24.72%

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 combined sample_94.variant39 X rs3012627
dbSNP Clinvar
71521867 1200.06 G C PASS 1/1 86 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%

CLCN4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs34148950
dbSNP Clinvar
10180554 2126.19 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.11020 0.11020 0.13453 None None None None None None CLCN4|0.28863626|28.47%

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 combined sample_94.variant39 X rs1042065
dbSNP Clinvar
107433688 1646.23 A G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.57325 0.57320 0.25741 0.00 None None None None None None COL4A6|0.130757642|45.78%
View combined sample_94.variant39 X rs4623610
dbSNP Clinvar
107418906 1059.33 A G PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.98384 0.98380 0.01695 None None None None None None COL4A6|0.130757642|45.78%
View combined sample_94.variant39 X rs1266719
dbSNP Clinvar
107437848 1596.7 G C PASS 1/1 109 None None None 0.44980 0.44980 0.36476 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 combined sample_94.variant39 X rs5940915
dbSNP Clinvar
88008423 1304.13 A C PASS 0/1 99 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 combined sample_94.variant39 X rs5984611
dbSNP Clinvar
88008807 2143.18 G A PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.23046 0.23050 0.32926 0.63 0.92 None None None None None None CPXCR1|0.001467264|92.95%

CRLF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs151218732
dbSNP Clinvar
1314931 884.03 C T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.05611 0.05611 0.07437 0.15 0.38 None None None None None None CRLF2|0.001160822|94.64%

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 combined sample_94.variant39 X rs2515848
dbSNP Clinvar
151909156 536.48 A G PASS 0/1 106 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 combined sample_94.variant39 X rs28460440
dbSNP Clinvar
1422868 2267.56 G A PASS 0/1 188 SYNONYMOUS_CODING LOW None 0.32628 0.32630 0.37983 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 combined sample_94.variant39 X rs2034920
dbSNP Clinvar
134948034 1421.03 A G PASS 1/1 106 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 combined sample_94.variant39 X rs871733
dbSNP Clinvar
120008979 4479.77 T C PASS 1/1 317 SYNONYMOUS_CODING LOW None 0.67894 0.67890 0.37382 None None None None None None CT47B1|0.000279084|99.49%

CTAG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs4326559
dbSNP Clinvar
153880830 5149.77 A C PASS 0/1 391 SYNONYMOUS_CODING LOW None 0.52821 0.52820 0.43803 None None None None None None CTAG2|0.000106023|99.93%
View combined sample_94.variant39 X rs17328091
dbSNP Clinvar
153881525 4650.2 G C PASS 0/1 304 NON_SYNONYMOUS_CODING MODERATE None 0.50940 0.50940 0.46272 0.93 0.01 None None None None None None CTAG2|0.000106023|99.93%

CTPS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs1048392
dbSNP Clinvar
16627756 983.73 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.09801 0.09801 0.07678 None None None None None None CTPS2|0.247337379|31.79%

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 combined sample_94.variant39 X rs887369
dbSNP Clinvar
30577846 2872.84 A C PASS 1/1 95 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 combined sample_94.variant39 X rs6632450
dbSNP Clinvar
35993454 996.11 C T PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.24768 0.24770 0.13025 None None None None None None CFAP47|0.008493492|82.15%
View combined sample_94.variant39 X rs6629019
dbSNP Clinvar
35938045 2310.37 C T PASS 0/1 149 SYNONYMOUS_CODING LOW None 0.21219 0.21220 0.14205 None None None None None None CFAP47|0.008493492|82.15%
View combined sample_94.variant39 X rs2336029
dbSNP Clinvar
35969297 1356.68 G A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.18782 0.18780 0.10065 0.00 1.00 None None None None None None CFAP47|0.008493492|82.15%
View combined sample_94.variant39 X rs6632446
dbSNP Clinvar
35988996 1438.5 T C PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.20106 0.20110 0.08170 None None None None None None CFAP47|0.008493492|82.15%
View combined sample_94.variant39 X rs6629027
dbSNP Clinvar
36007614 722.15 T G PASS 1/1 83 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%

CXorf24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs2071778
dbSNP Clinvar
47343254 1854.09 C T PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.24848 0.24850 0.00 None None None None None None LINC01560|0.001037144|95.23%

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 combined sample_94.variant39 X rs6527569
dbSNP Clinvar
36403036 4260.9 A G PASS 0/1 360 NON_SYNONYMOUS_CODING MODERATE None 0.39152 0.39150 0.33056 1.00 0.00 None None None None None None None
View combined sample_94.variant39 X . 36317253 1117.17 C G PASS 0/1 101 SYNONYMOUS_CODING LOW None None None None None None None None

CXorf38

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs6610447
dbSNP Clinvar
40506697 4794.7 A G PASS 1/1 409 SYNONYMOUS_CODING LOW None 0.97669 0.97670 0.03974 None None None None None None CXorf38|0.065046146|58.62%

CXorf40A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs626560
dbSNP Clinvar
148627384 226.59 A G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.94013 0.94010 1.00 0.00 None None None None None None CXorf40A|0.004189314|86.75%
View combined sample_94.variant39 X rs12116111
dbSNP Clinvar
148628490 1060.95 A T PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.94252 0.94250 None None None None None None CXorf40A|0.004189314|86.75%

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 combined sample_94.variant39 X rs5910611
dbSNP Clinvar
118678364 653.05 G A PASS 0/1 88 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 combined sample_94.variant39 X rs2707164
dbSNP Clinvar
23928489 3777.93 C T PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.37007 0.37010 0.46161 0.19 0.01 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 combined sample_94.variant39 X rs2269777
dbSNP Clinvar
125955428 2982.01 G A PASS 0/1 207 SYNONYMOUS_CODING LOW None 0.31205 0.31210 0.37444 None None None None None None PRR32|0.002165243|90.54%
View combined sample_94.variant39 X rs4289953
dbSNP Clinvar
125955199 1355.07 T C PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.18119 0.18120 0.08389 0.00 0.61 None None None None None None PRR32|0.002165243|90.54%

CXorf65

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs1130009
dbSNP Clinvar
70324157 2618.73 C T PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.11179 0.11180 0.22683 None None None None None None CXorf65|0.013213084|78.35%

CXorf66

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs149552852
dbSNP Clinvar
139038160 2450.86 A T PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.00477 0.00477 0.00379 0.11 0.00 None None None None None None CXorf66|0.000287232|99.46%
View combined sample_94.variant39 X rs5955139
dbSNP Clinvar
139038443 1939.57 G A PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.32662 0.32660 0.28098 0.84 0.00 None None None None None None CXorf66|0.000287232|99.46%