+ 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 261

Genes:
ABCA1, ABCA2, ADAMTS13, ADAMTSL1, ADAMTSL2, AIF1L, AK1, AKNA, ALDH1B1, ANGPTL2, ANKRD18B, AQP7, ARHGEF39, ARID3C, ARRDC1, ASB6, ASPN, ASS1, ASTN2, BAAT, BRD3, BRINP1, BSPRY, C8G, C9orf114, C9orf117, C9orf129, C9orf131, C9orf152, C9orf163, C9orf171, C9orf172, C9orf66, C9orf69, C9orf96, CA9, CACFD1, CACNA1B, CARD9, CCDC107, CCDC180, CCDC183, CCIN, CDK20, CDK5RAP2, CEP78, CNTLN, CNTNAP3, CNTNAP3B, COL15A1, COL27A1, COL5A1, COQ4, CRAT, CRB2, DAPK1, DBH, DDX31, DFNB31, DMRT1, DNM1, DOCK8, DPM2, DPP7, ECM2, EGFL7, EHMT1, ENDOG, ENTPD8, ERMP1, EXD3, FAM102A, FAM120A, FAM154A, FAM205A, FAM214B, FAM221B, FAM73B, FAM78A, FBP1, FBP2, FBXO10, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FNBP1, FOCAD, FOXD4, FREM1, FRMPD1, FXN, GALT, GBA2, GLIS3, GLT6D1, GNA14, GOLGA1, GPR107, GPR144, GPSM1, GRIN3A, IFNA21, IFNA4, IFNB1, IFNW1, IFT74, IKBKAP, IL33, INPP5E, KANK1, KCNT1, KIAA0020, KIAA1161, KIF24, KIF27, LAMC3, LCN12, LHX2, LMX1B, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MOB3B, MPDZ, MRPS2, NAA35, NACC2, NEK6, NINJ1, NIPSNAP3A, NOTCH1, NOXA1, NPR2, NR5A1, NTNG2, NUP188, NUTM2F, OBP2A, OLFM1, OLFML2A, OR13C3, OR13F1, OR13J1, OR1B1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2K2, OR2S2, ORM1, PAPPA, PCSK5, PHYHD1, PIGO, PIP5K1B, PIP5KL1, PMPCA, PNPLA7, POMT1, PPAPDC3, PPP1R26, PPP6C, PRRC2B, PRSS3, PRUNE2, PSAT1, PTCH1, PTGDS, PTGES, PTGS1, QRFP, RABL6, RAD23B, RALGDS, RAPGEF1, RASEF, RC3H2, RGS3, RLN1, RNF20, RNF224, ROR2, RUSC2, SARDH, SDCCAG3, SEC16A, SEMA4D, SETX, SH2D3C, SHB, SHC3, SLC1A1, SLC24A2, SLC25A25, SLC28A3, SLC2A6, SLC2A8, SLC34A3, SLC46A2, SMARCA2, SMC5, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31A6, SPATA31D1, SPATA31E1, SPTAN1, STX17, SURF1, SURF2, SUSD3, SVEP1, TAF1L, TBC1D13, TEK, TJP2, TLE1, TLE4, TLN1, TMEM8C, TNC, TOMM5, TOR2A, TPD52L3, TRPM3, TRPM6, TTC16, TTF1, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, UHRF2, USP20, VAV2, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZFP37, ZNF169, ZNF189, ZNF462, ZNF79,

+ Genes associated with diseases 63

Genes at Omim

ABCA1, ADAMTS13, ADAMTSL2, AK1, AQP7, ASPN, ASS1, BAAT, CACNA1B, CARD9, CDK5RAP2, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DNM1, DOCK8, DPM2, EHMT1, FBP1, FREM1, FXN, GALT, GBA2, GLIS3, IFT74, IKBKAP, INPP5E, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MRPS2, NOTCH1, NPR2, NR5A1, PIGO, PMPCA, POMT1, PSAT1, PTCH1, ROR2, RUSC2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, SURF1, TEK, TJP2, TNC, TRPM6, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ASS1 Citrullinemia, 215700 (3)
BAAT Hypercholanemia, familial, 607748 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEP78 Cone-rod dystrophy and hearing loss, 617236 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GALT Galactosemia, 230400 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MRPS2 Combined oxidative phosphorylation deficiency 36, 617950 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NR5A1 Adrenocortical insufficiency, 612964 (3)
Premature ovarian failure 7, 612964 (3)
46, XX sex reversal 4, 617480 (3)
46XY sex reversal 3, 612965 (3)
Spermatogenic failure 8, 613957 (3)
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RUSC2 Mental retardation, autosomal recessive 61, 617773 (3)
SARDH [Sarcosinemia], 268900 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SOHLH1 Ovarian dysgenesis 5, 617690 (3)
Spermatogenic failure 32, 618115 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AK1, ASS1, BAAT, CACNA1B, CARD9, CDK5RAP2, COL27A1, COL5A1, COQ4, CRB2, DBH, DNM1, DOCK8, DPM2, EHMT1, FBP1, FREM1, FXN, GALT, GBA2, GLIS3, IKBKAP, INPP5E, KANK1, KCNT1, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, NOTCH1, NPR2, NR5A1, PIGO, PMPCA, POMT1, PSAT1, PTCH1, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, SURF1, TEK, TJP2, TNC, TRPM6, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ASS1 Citrullinemia
BAAT Hypercholanemia, familial
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COQ4 Coenzyme Q10 deficiency 7
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
DBH Dopamine beta-hydroxylase deficiency
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
EHMT1 Kleefstra syndrome
FBP1 Fructose-1,6-bisphosphatase deficiency
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FXN Friedreich ataxia
GALT Galactosemia
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
IKBKAP Dysautonomia, familial
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
NR5A1 Adrenocortical insufficiency
46, XY sex reversal, 3
Premature ovarian failure 7
PIGO Hyperphosphatasia with mental retardation syndrome 2
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PSAT1 Phosphoserine aminotransferase deficiency
PTCH1 Basal cell nevus syndrome
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SLC1A1 Dicarboxylic aminoaciduria
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
SURF1 Charcot-Marie-Tooth disease type 4K
Leigh syndrome
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TNC Deafness, autosomal dominant 56
TRPM6 Hypomagnesemia 1, intestinal
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 1196
Number of Genes: 261

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs145934546,rs67591065
dbSNP Clinvar 		33354070 50.0 TT... T PASS 1/1 32 None None None 0.30152 0.30150 None None None None None None NFX1|0.288751225|28.45%
View tsvc_variants_ionxpress_032 9 rs138259328
dbSNP Clinvar 		113137562 466.587 TT... T PASS 1/1 64 None None None 0.18530 0.18530 None None None None None None SVEP1|0.103919502|50.43%
View tsvc_variants_ionxpress_032 9 rs66803865,rs11278843
dbSNP Clinvar 		139410300 153.74 TG... T PASS 0/1 227 None None None 0.58407 0.58410 None None None None None None NOTCH1|0.999930909|0.16%
View tsvc_variants_ionxpress_032 9 rs111383751
dbSNP Clinvar 		131073329 27.8874 TG T PASS 0/1 82 None None None 0.16154 0.16150 0.19045 None None None None None None TRUB2|0.045539339|64.04%
View tsvc_variants_ionxpress_032 9 . 396749 138.322 TC GA PASS 0/1 142 None None None None None None None None None DOCK8|0.209041054|35.69%
View tsvc_variants_ionxpress_032 9 rs3832606
dbSNP Clinvar 		27296943 56.8793 TAC T PASS 0/1 51 None None None 0.10264 0.10260 0.09313 None None None None None None EQTN|0.001513328|92.7%
View tsvc_variants_ionxpress_032 9 rs55816769
dbSNP Clinvar 		138656783 74.9828 T C PASS 0/1 72 None None None 0.20727 0.20730 None None None None None None KCNT1|0.089485146|53.34%
View tsvc_variants_ionxpress_032 9 rs58604946
dbSNP Clinvar 		138657053 121.967 T G PASS 0/1 112 None None None 0.20787 0.20790 0.23958 None None None None None None KCNT1|0.089485146|53.34%
View tsvc_variants_ionxpress_032 9 rs7037200
dbSNP Clinvar 		140399983 40.616 T C PASS 0/1 55 None None None 0.67532 0.67530 None None None None None None PNPLA7|0.019567528|74.4%
View tsvc_variants_ionxpress_032 9 rs111496959
dbSNP Clinvar 		17135443 148.399 T C PASS 0/1 208 None None None 0.14557 0.14560 0.21496 None None None None None None CNTLN|0.534626587|14.4%
View tsvc_variants_ionxpress_032 9 rs4961574
dbSNP Clinvar 		17579198 733.248 T G PASS 1/1 99 None None None 1.00000 1.00000 0.00008 None None None None None None SH3GL2|0.786974119|6.19%
View tsvc_variants_ionxpress_032 9 rs10776856
dbSNP Clinvar 		138837113 38.707 T C PASS 0/1 54 None None None 0.51358 0.51360 0.49508 None None None None None None UBAC1|0.040909799|65.45%

UBAC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7028495
dbSNP Clinvar 		138838140 519.457 T C PASS 1/1 70 SYNONYMOUS_CODING LOW SILENT 0.98203 0.98200 0.02038 None None None None None None UBAC1|0.040909799|65.45%

ADAMTSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2277160
dbSNP Clinvar 		18504916 150.967 T A PASS 0/1 131 SYNONYMOUS_CODING LOW SILENT 0.57089 0.57090 0.40643 None None None None None None ADAMTSL1|0.674544897|9.24%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs934469
dbSNP Clinvar 		18826500 116.996 T C PASS 0/1 118 None None None 0.57628 0.57630 0.33312 None None None None None None ADAMTSL1|0.674544897|9.24%

C9orf69
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3739466
dbSNP Clinvar 		139008803 703.047 T G PASS 1/1 93 None None None 0.44828 0.44830 None None None None None None C9orf69|0.222585573|34.12%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs28583929
dbSNP Clinvar 		139230585 191.406 T C PASS 0/1 112 None None None 0.44409 0.44410 0.47973 None None None None None None GPSM1|0.050835396|62.41%
View tsvc_variants_ionxpress_032 9 rs10870202
dbSNP Clinvar 		139257411 419.149 T C PASS 1/1 57 None None None 0.45308 0.45310 0.47832 None None None None None None DNLZ|0.006164665|84.43%,CARD9|0.103593325|50.49%

SNAPC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3812565
dbSNP Clinvar 		139272502 719.032 T C PASS 1/1 97 SYNONYMOUS_CODING LOW SILENT 0.32788 0.32790 0.31558 None None None None None None SNAPC4|0.002400965|89.89%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3124603
dbSNP Clinvar 		139410177 247.033 T C PASS 0/1 234 None None None 0.58726 0.58730 0.39609 None None None None None None NOTCH1|0.999930909|0.16%
View tsvc_variants_ionxpress_032 9 rs3087886
dbSNP Clinvar 		139301583 499.897 T C PASS 1/1 67 None None None 0.41693 0.41690 0.43896 None None None None None None SDCCAG3|0.028543555|70.16%
View tsvc_variants_ionxpress_032 9 rs3124598
dbSNP Clinvar 		139403554 399.171 T C PASS 1/1 54 None None None 0.76478 0.76480 0.33098 None None None None None None NOTCH1|0.999930909|0.16%
View tsvc_variants_ionxpress_032 9 rs1130635
dbSNP Clinvar 		139317869 118.193 T C PASS 0/1 142 None None None 0.19748 0.19750 None None None None None None PMPCA|0.048027366|63.32%

SLC24A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2383101
dbSNP Clinvar 		19576949 47.5857 T G PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.86562 0.86560 0.21267 None None None None None None SLC24A2|0.390081282|21.42%

EXD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7020732
dbSNP Clinvar 		140247143 1295.4 T G PASS 1/1 179 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93391 0.93390 0.08739 0.60 0.00 None None None None None None EXD3|0.002541663|89.59%

C9orf163
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs34376913
dbSNP Clinvar 		139378914 184.126 T C PASS 0/1 205 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15156 0.15160 0.16099 0.00 0.99 None None None None None None C9orf163|0.000432882|98.77%

EHMT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3812497
dbSNP Clinvar 		140611436 755.074 T C PASS 1/1 100 SYNONYMOUS_CODING LOW SILENT 0.22784 0.22780 0.22078 None None None None None None EHMT1|0.048999784|62.96%

CCDC183
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2811795
dbSNP Clinvar 		139700605 636.072 T C PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85344 0.85340 0.14727 0.99 0.00 None None None None None None CCDC183|0.008607559|82.03%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7031287
dbSNP Clinvar 		8454566 146.348 T C PASS 0/1 69 None None None 0.50300 0.50300 0.45803 None None None None None None PTPRD|0.999948474|0.14%
View tsvc_variants_ionxpress_032 9 rs2297076
dbSNP Clinvar 		396712 146.302 T A PASS 0/1 141 None None None 0.18830 0.18830 None None None None None None DOCK8|0.209041054|35.69%

TPD52L3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3847262
dbSNP Clinvar 		6328947 813.037 T C PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92252 0.92250 0.09465 0.00 0.99 None None None None None None TPD52L3|0.005696163|84.99%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2282160
dbSNP Clinvar 		6534845 68.6458 T C PASS 0/1 53 None None None 0.42552 0.42550 0.40977 None None None None None None GLDC|0.25815224|30.92%

OBP2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2853652
dbSNP Clinvar 		138440641 1381.07 T C PASS 1/1 186 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84265 0.84270 0.23147 0.52 0.00 None None None None None None OBP2A|0.000333312|99.28%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2483364
dbSNP Clinvar 		138587220 1272.74 T C PASS 1/1 170 None None None 0.91613 0.91610 None None None None None None SOHLH1|0.001142844|94.75%
View tsvc_variants_ionxpress_032 9 rs2811793
dbSNP Clinvar 		139699964 937.786 T C PASS 1/1 131 None None None 0.79054 0.79050 None None None None None None CCDC183|0.008607559|82.03%

IFNW1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs139776106
dbSNP Clinvar 		21141323 191.813 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00023 0.14 0.62 None None None None None None IFNW1|0.001670561|92%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs13295537
dbSNP Clinvar 		140158871 954.915 T C PASS 1/1 130 None None None 0.63039 0.63040 None None None None None None NELFB|0.224884321|33.89%

TUSC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs35110225
dbSNP Clinvar 		25677933 332.401 T C PASS 0/1 296 SYNONYMOUS_CODING LOW SILENT 0.42752 0.42750 0.44005 None None None None None None TUSC1|0.019205665|74.58%
View tsvc_variants_ionxpress_032 9 rs34498078
dbSNP Clinvar 		25677953 2212.79 T C PASS 1/1 298 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91633 0.91630 0.04168 1.00 0.00 None None None None None None TUSC1|0.019205665|74.58%
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 tsvc_variants_ionxpress_032 9 rs28567631
dbSNP Clinvar 		140146651 993.586 T C PASS 1/1 141 None None None 0.70188 0.70190 None None None None None None C9orf173|0.002917649|88.78%

SLC34A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs28407527
dbSNP Clinvar 		140128085 554.437 T C PASS 1/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.45567 0.45570 0.41366 None None None None None None SLC34A3|0.007501446|83.07%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs12985
dbSNP Clinvar 		32450187 135.811 T C PASS 0/1 130 None None None 0.39796 0.39800 0.40530 None None None None None None ACO1|0.412115925|20.03%
View tsvc_variants_ionxpress_032 9 rs7390663
dbSNP Clinvar 		140110274 392.394 T C PASS 1/1 53 None None None 0.89916 0.89920 0.13099 None None None None None None NDOR1|0.014579156|77.44%

TAF1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs10758145
dbSNP Clinvar 		32630472 135.052 T C PASS 0/1 125 SYNONYMOUS_CODING LOW SILENT 0.34605 0.34600 0.31470 None None None None None None TAF1L|0.007575765|83%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2256139
dbSNP Clinvar 		130486915 470.305 T C PASS 1/1 64 None None None 0.61881 0.61880 None None None None None None PTRH1|0.053972613|61.48%,TTC16|0.006840905|83.64%
View tsvc_variants_ionxpress_032 9 rs515182
dbSNP Clinvar 		130494811 510.555 T C PASS 1/1 69 None None None 0.65395 0.65400 0.33490 None None None None None None TOR2A|0.104424548|50.35%

TOR2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs538066
dbSNP Clinvar 		130494957 460.652 T C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99421 0.99420 0.01103 1.00 0.00 None None None None None None TOR2A|0.104424548|50.35%
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 tsvc_variants_ionxpress_032 9 rs743537
dbSNP Clinvar 		130634944 164.207 T C PASS 0/1 198 None None None 0.36442 0.36440 0.41012 None None None None None None AK1|0.26080806|30.67%
View tsvc_variants_ionxpress_032 9 rs11792894
dbSNP Clinvar 		137709780 925.964 T C PASS 1/1 125 None None None 0.58227 0.58230 None None None None None None COL5A1|0.207487878|35.85%
View tsvc_variants_ionxpress_032 9 rs7039441
dbSNP Clinvar 		140605334 73.7532 T C PASS 0/1 75 None None None 0.53574 0.53570 None None None None None None EHMT1|0.048999784|62.96%
View tsvc_variants_ionxpress_032 9 rs9697186
dbSNP Clinvar 		137714027 610.568 T C PASS 1/1 82 None None None 0.60943 0.60940 0.33277 None None None None None None COL5A1|0.207487878|35.85%

DMRT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3739583
dbSNP Clinvar 		841971 205.075 T A PASS 0/1 246 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22464 0.22460 0.11479 0.12 0.01 None None None None None None DMRT1|0.441099025|18.6%

DOCK8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2039045
dbSNP Clinvar 		312124 77.359 T C PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.16434 0.16430 0.21675 None None None None None None DOCK8|0.209041054|35.69%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7868111
dbSNP Clinvar 		137717610 96.6223 T C PASS 0/1 69 None None None 0.74601 0.74600 0.28802 None None None None None None COL5A1|0.207487878|35.85%
View tsvc_variants_ionxpress_032 9 rs4390039
dbSNP Clinvar 		139977195 1099.49 T C PASS 1/1 133 None None None 0.99701 0.99700 0.00209 None None None None None None UAP1L1|0.018733938|74.84%
View tsvc_variants_ionxpress_032 9 rs7873997
dbSNP Clinvar 		139973236 437.63 T C PASS 1/1 59 None None None 0.89677 0.89680 None None None None None None UAP1L1|0.018733938|74.84%
View tsvc_variants_ionxpress_032 9 rs7390974
dbSNP Clinvar 		139973186 429.012 T C PASS 1/1 58 None None None 0.99701 0.99700 None None None None None None UAP1L1|0.018733938|74.84%

UAP1L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs10870176
dbSNP Clinvar 		139972900 266.889 T C PASS 0/1 138 None None None 0.18650 0.18650 0.28409 None None None None None None UAP1L1|0.018733938|74.84%

FCN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs1071583
dbSNP Clinvar 		137801800 213.801 T C PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.68371 0.68370 0.27326 None None None None None None FCN1|0.005920154|84.67%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs11421281,rs397698098
dbSNP Clinvar 		137806329 135.166 T TC PASS 0/1 107 None None None 0.60763 0.60760 0.35301 None None None None None None FCN1|0.005920154|84.67%
View tsvc_variants_ionxpress_032 9 rs58856080
dbSNP Clinvar 		2115743 69.3686 T C PASS 0/1 59 None None None 0.07248 0.07248 None None None None None None SMARCA2|0.973609555|1.61%
View tsvc_variants_ionxpress_032 9 rs7469569
dbSNP Clinvar 		139926402 1252.17 T C PASS 1/1 169 None None None 0.69948 0.69950 0.33331 None None None None None None C9orf139|0.000737675|97.09%,FUT7|0.009642889|81.13%

ABCA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs908828
dbSNP Clinvar 		139913239 1859.07 T G PASS 1/1 250 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None ABCA2|0.074227496|56.47%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs6560657
dbSNP Clinvar 		139910648 482.623 T C PASS 1/1 65 None None None 0.96226 0.96230 0.03930 None None None None None None ABCA2|0.074227496|56.47%

OLFM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs500461
dbSNP Clinvar 		137982127 415.293 T C PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT 0.78235 0.78230 0.10757 None None None None None None OLFM1|0.232549612|33.15%
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 tsvc_variants_ionxpress_032 9 rs10781531
dbSNP Clinvar 		139908265 983.665 T C PASS 1/1 132 None None None 0.95507 0.95510 0.05276 None None None None None None ABCA2|0.074227496|56.47%

PPP1R26
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3748192
dbSNP Clinvar 		138376649 113.655 T C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41833 0.41830 0.22227 1.00 0.00 None None None None None None PPP1R26|0.002056024|90.84%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2271863
dbSNP Clinvar 		139906513 1142.92 T C PASS 1/1 158 None None None 0.71446 0.71450 0.28474 None None None None None None ABCA2|0.074227496|56.47%
View tsvc_variants_ionxpress_032 9 rs7029054
dbSNP Clinvar 		5929167 459.606 T C PASS 1/1 62 None None None 0.78015 0.78020 0.13791 None None None None None None KIAA2026|0.200524934|36.71%

OBP2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2590501
dbSNP Clinvar 		138440527 155.948 T C PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48662 0.48660 0.30563 0.64 0.00 None None None None None None OBP2A|0.000333312|99.28%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7026528
dbSNP Clinvar 		113100012 389.365 T G PASS 1/1 54 None None None 0.35543 0.35540 0.41535 None None None None None None TXNDC8|0.010663264|80.4%
View tsvc_variants_ionxpress_032 9 rs4344146
dbSNP Clinvar 		115920099 671.938 T C PASS 1/1 91 None None None 0.60124 0.60120 0.39028 None None None None None None SLC31A2|0.062693247|59.14%

POMT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3739494
dbSNP Clinvar 		134387488 996.882 T C PASS 1/1 134 SYNONYMOUS_CODING LOW SILENT 0.87081 0.87080 0.11948 None None None None None None POMT1|0.060595085|59.69%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7862044
dbSNP Clinvar 		112918581 500.943 T C PASS 1/1 67 None None None 0.79413 0.79410 0.29040 None None None None None None PALM2-AKAP2|0.163410266|41.09%,AKAP2|0.121220388|47.25%
View tsvc_variants_ionxpress_032 9 . 38414024 43.484 T C PASS 0/1 50 None None None None None None None None None IGFBPL1|0.012302265|79.03%

CCIN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs3739609
dbSNP Clinvar 		36169598 924.437 T C PASS 1/1 125 SYNONYMOUS_CODING LOW SILENT 0.50180 0.50180 0.49185 None None None None None None CCIN|0.349653744|24.15%

PRRC2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs10793873
dbSNP Clinvar 		134350647 474.14 T C PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98123 0.98120 0.02261 1.00 0.00 None None None None None None PRRC2B|0.148927133|43.15%

OR2S2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2233558
dbSNP Clinvar 		35958047 110.885 T C PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34525 0.34520 0.37383 1.00 0.00 None None None None None None OR2S2|0.010856043|80.2%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2274786
dbSNP Clinvar 		112225774 340.128 T C PASS 1/1 52 None None None 0.39756 0.39760 None None None None None None PTPN3|0.888079599|3.74%

PRRC2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs4310250
dbSNP Clinvar 		134346315 376.229 T C PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.85883 0.85880 0.11856 None None None None None None PRRC2B|0.148927133|43.15%

PPAPDC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2986606
dbSNP Clinvar 		134183503 82.1198 T C PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.33208 None None None None None None PPAPDC3|0.244945665|32.01%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2258240
dbSNP Clinvar 		35060955 660.478 T C PASS 1/1 90 None None None 0.70188 0.70190 0.23828 None None None None None None VCP|0.893080702|3.59%
View tsvc_variants_ionxpress_032 9 rs11244356
dbSNP Clinvar 		134165888 135.457 T C PASS 0/1 137 None None None 0.71785 0.71790 None None None None None None PPAPDC3|0.244945665|32.01%
View tsvc_variants_ionxpress_032 9 rs1051013
dbSNP Clinvar 		116359339 844.741 T C PASS 1/1 115 None None None 0.84345 0.84350 None None None None None None RGS3|0.174619779|39.71%

SNX30
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs7023478
dbSNP Clinvar 		115600848 864.478 T C PASS 1/1 116 SYNONYMOUS_CODING LOW SILENT 0.99181 0.99180 0.02081 None None None None None None SNX30|0.232108411|33.19%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2498417
dbSNP Clinvar 		71831398 378.271 T C PASS 1/1 51 None None None 0.89417 0.89420 0.09619 None None None None None None TJP2|0.24805836|31.7%
View tsvc_variants_ionxpress_032 9 rs664357
dbSNP Clinvar 		35100002 980.362 T C PASS 1/1 141 None None None 0.98343 0.98340 0.01907 None None None None None None STOML2|0.651061922|10.07%
View tsvc_variants_ionxpress_032 9 rs9695558
dbSNP Clinvar 		34569010 482.534 T A PASS 1/1 65 None None None 0.95288 0.95290 0.05288 None None None None None None CNTFR|0.579333324|12.62%
View tsvc_variants_ionxpress_032 9 rs1546049
dbSNP Clinvar 		117064306 559.768 T C PASS 1/1 78 None None None 0.55891 0.55890 0.47284 None None None None None None COL27A1|0.069704494|57.54%
View tsvc_variants_ionxpress_032 9 rs16922
dbSNP Clinvar 		134010236 82.8661 T C PASS 0/1 50 None None None 0.31110 0.31110 0.26492 None None None None None None NUP214|0.088064725|53.65%
View tsvc_variants_ionxpress_032 9 rs374261105
dbSNP Clinvar 		35103007 148.635 T C PASS 0/1 153 None None None 0.00008 None None None None None None STOML2|0.651061922|10.07%
View tsvc_variants_ionxpress_032 9 rs7039990
dbSNP Clinvar 		38423826 873.167 T A PASS 1/1 117 None None None 0.75359 0.75360 None None None None None None IGFBPL1|0.012302265|79.03%
View tsvc_variants_ionxpress_032 9 rs353526
dbSNP Clinvar 		133986980 1173.54 T G PASS 1/1 175 None None None 0.99980 0.99980 None None None None None None AIF1L|0.265763061|30.2%
View tsvc_variants_ionxpress_032 9 rs2315076
dbSNP Clinvar 		133981721 119.158 T C PASS 0/1 143 None None None 0.27776 0.27780 None None None None None None AIF1L|0.265763061|30.2%

AIF1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs2315075
dbSNP Clinvar 		133981629 119.06 T C PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26058 0.26060 0.52 0.00 None None None None None None AIF1L|0.265763061|30.2%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs818056
dbSNP Clinvar 		133967240 613.019 T C PASS 1/1 125 None None None 0.38958 0.38960 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs2275143
dbSNP Clinvar 		133963217 64.3622 T C PASS 0/1 70 None None None 0.19309 0.19310 0.16408 None None None None None None LAMC3|0.028908459|69.93%
View tsvc_variants_ionxpress_032 9 rs8176719
dbSNP Clinvar 		136132908 241.889 T TC PASS 0/1 272 None None None 0.34385 0.34380 0.33999 None None None None None None None
View tsvc_variants_ionxpress_032 9 rs8176720
dbSNP Clinvar 		136132873 365.82 T C PASS 0/1 277 None None None 0.45328 0.45330 0.37145 None None None None None None None

SNX30
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View tsvc_variants_ionxpress_032 9 rs1891402
dbSNP Clinvar 		115567184 644.831 T C PASS 1/1 87 SYNONYMOUS_CODING LOW SILENT 0.95887 0.95890 0.06898 None None None None None None SNX30|0.232108411|33.19%