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+ Genes 257

Genes:
ABCC5, AC096644.1, ACPT, ACSF2, ADAL, ADAMTSL4, ADCY8, AGAP1, AIM1L, ANAPC1, ANKRD36, ANKRD36C, ANO7, ANXA9, AQPEP, ARHGAP26, ARHGEF7, ARID4B, ARMC3, ASAP2, ASIC5, ATF1, ATP11A, ATP12A, ATP2A3, ATP6V0A2, ATP8B1, ATP8B3, B3GALTL, BECN1, BGN, BRWD1, C17orf49, C1orf192, C20orf96, CABP5, CAND2, CAPN2, CBWD1, CCDC144NL, CCDC68, CCND1, CCND2, CDC27, CELA3B, CEP290, CEP89, CHAF1A, CLEC2D, CNOT6, COG3, COL16A1, COL22A1, COL4A4, COL5A3, COL6A5, COPE, CPSF3L, CREB3L4, CREBRF, CSMD1, CSNK1G1, CYP11B1, DBH, DDR1, DGKA, DLG5, DNAJC16, DSP, DYSF, EHMT1, EHMT2, EIF4B, ELMSAN1, FAF1, FAM182B, FAM198A, FAM3B, FANCD2, FCRLB, FHAD1, FKBP2, FLNB, FLOT1, FMNL2, FRG1, FRG1B, GAB4, GALP, GAREML, GCOM1, GDPD2, GEMIN5, GIPC1, GLTPD2, GNG8, GPATCH1, GPD1, GRAMD1A, GRIK4, GRM6, HABP4, HAUS6, HCLS1, HEATR1, HEATR4, HEG1, HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DRB1, HLA-F, HPS5, HTRA4, INPP4B, IRAK1BP1, IRAK3, IRGQ, ITGA1, ITGA11, ITGA5, ITPR1, KIAA1731, KRT75, LGI4, LHFPL3, LIG1, LPHN3, LRP1, LRP1B, LRP2, LRPAP1, LRRC16A, LTBP1, LTBP4, MALRD1, MASP2, MAST1, MAT2B, MBTPS2, MCOLN1, MCTP1, MEF2A, MGAM, MLF1, MMEL1, MROH2A, MRPL30, MS4A7, MTMR7, MUC12, MUC16, MUC2, MUC3A, MYH13, MYH7, MYO1B, NAAA, NAV1, NAV2, NAV3, NCAPD2, NCAPG, NCKAP1, NDNF, NEB, NECAB1, NEK10, NEURL4, NID2, NLRP13, NMS, NUP85, OBSL1, OC90, ODF2, OSER1, PARP4, PARVB, PDLIM3, PGS1, PI4KA, PIEZO1, PIH1D1, PITRM1, PIWIL4, PLCB1, PLCD3, PLXNA2, PLXNB2, POLR2A, PPIL2, PRKCG, PRRC1, PRSS3, PRSS55, PSG8, PTK2B, PTPRA, PXDN, RAB15, RAB44, RAP1GAP2, RCBTB2, REC8, RIC3, RNF212, RP11-105C20.2, RP11-80A15.1, RYR3, SDHA, SEC14L6, SFTA2, SH3YL1, SIRPA, SIRPB1, SLC12A2, SLC22A7, SLC34A3, SLC44A5, SLC7A11, SLC7A7, SLCO4C1, SMARCAD1, SPTB, SRGAP2, SUPT16H, TEC, TLE4, TMED4, TMEM184B, TNFRSF8, TNNI2, TOM1, TRBV5-6, TRPM5, TSC1, TSPAN5, TTC40, TTL, UBA6, USO1, USP33, VAV3, VCAN, VPS41, VPS8, WASH4P, WDR64, XPO5, ZAN, ZC3H11A, ZFAND5, ZNF131, ZNF419, ZNF609,

+ Genes associated with diseases 58

Genes at Omim

ACPT, ADAMTSL4, ARHGAP26, ATP6V0A2, ATP8B1, BGN, CCND1, CCND2, CEP290, COL4A4, CYP11B1, DBH, DSP, DYSF, EHMT1, FANCD2, FLNB, GPD1, GRM6, HLA-A, HLA-B, HLA-C, HLA-DRB1, HPS5, IRAK3, ITPR1, KRT75, LGI4, LRP1, LRP2, LRPAP1, LTBP4, MASP2, MAST1, MBTPS2, MCOLN1, MEF2A, MLF1, MYH7, NCAPD2, NEB, NUP85, OBSL1, PI4KA, PIEZO1, PLCB1, PRKCG, PXDN, RNF212, SDHA, SLC34A3, SLC7A7, SMARCAD1, SPTB, TEC, TNNI2, TSC1, VCAN,
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ADAMTSL4 Ectopia lentis et pupillae, 225200 (3)
Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DYSF Miyoshi muscular dystrophy 1, 254130 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP2 Donnai-Barrow syndrome, 222448 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MASP2 MASP2 deficiency, 613791 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (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)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
OBSL1 3-M syndrome 2, 612921 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
TEC Transient erythroblastopenia of childhood (2)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
VCAN Wagner syndrome 1, 143200 (3)

Genes at Clinical Genomics Database

ADAMTSL4, ATP6V0A2, ATP8B1, CCND2, CEP290, COL4A4, CYP11B1, DBH, DSP, DYSF, EHMT1, FANCD2, FLNB, GPD1, GRIK4, GRM6, HLA-A, HLA-B, HPS5, ITPR1, KRT75, LRP1, LRP2, LRPAP1, LTBP4, MASP2, MBTPS2, MCOLN1, MYH7, NEB, OBSL1, PI4KA, PIEZO1, PLCB1, PRKCG, PXDN, SDHA, SLC34A3, SLC7A7, SMARCAD1, SPTB, TNNI2, TSC1, VCAN,
ADAMTSL4 Ectopia lentis, isolated, autosomal recessive
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
COL4A4 Alport syndrome, autosomal recessive
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
DBH Dopamine beta-hydroxylase deficiency
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DYSF Miyoshi muscular dystrophy 1
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
EHMT1 Kleefstra syndrome
FANCD2 Fanconi anemia, complementation group D2
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
GPD1 Hypertriglyceridemia, transient infantile
GRIK4 Response to antidepressant treatment with citalopram
GRM6 Night blindness, congenital stationary, type 1B
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HPS5 Hermansky-Pudlak syndrome 5
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KRT75 Pseudofolliculitis barbae
LRP1 Schizophrenia
LRP2 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome
LRPAP1 Myopia 23, autosomal recessive
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MASP2 MASP2 deficiency
MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked
IFAP syndrome with or without BRESHECK syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
MCOLN1 Mucolipidosis IV
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NEB Nemaline myopathy 2
OBSL1 Three M syndrome 2
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PLCB1 Epileptic encephalopathy, early infantile, 12
PRKCG Spinocerebellar ataxia 14
PXDN Corneal opacification with other ocular anomalies
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SLC7A7 Lysinuric protein intolerance
SMARCAD1 Adermatoglyphia
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 265
Number of Genes: 257

Export to: CSV

BGN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 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%

GDPD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs2296542
dbSNP Clinvar 		69652762 1806.85 A G PASS 1/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%

MBTPS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 X rs3213451
dbSNP Clinvar 		21861434 2241.06 A G PASS 0/1 106 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45775 0.45770 0.41731 None None None None None None MBTPS2|0.462378865|17.54%

ODF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 rs4512487
dbSNP Clinvar 		131235321 428.34 A G PASS 1/1 41 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.98962 0.98960 0.01415 None None None None None None ODF2|0.331855819|25.34%

DBH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 rs1108580
dbSNP Clinvar 		136505114 1091.31 A G PASS 0/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.42680 None None None None None None DBH|0.089974085|53.24%

CBWD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 . 154795 2395.91 T C PASS 1/1 81 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78694 0.23615 None None None None None None CBWD1|0.029140848|69.81%

PRSS3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 9 rs144845866
dbSNP Clinvar 		33798079 1498.14 T C PASS 0/1 227 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None PRSS3|0.009331176|81.43%

ZFAND5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 9 rs2809270
dbSNP Clinvar 		74975136 1994.6 T C PASS 1/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.06022 None None None None None None ZFAND5|0.82884452|5.11%

TSC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 rs7862221
dbSNP Clinvar 		135782221 1386.41 T C PASS 0/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13858 0.13860 0.17092 None None None None None None TSC1|0.596037841|11.9%

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 combined sample_94.variant39 9 rs28407527
dbSNP Clinvar 		140128085 1308.37 T C PASS 1/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45567 0.45570 0.41366 None None None None None None SLC34A3|0.007501446|83.07%

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 combined sample_94.variant39 9 rs45450992
dbSNP Clinvar 		140648742 229.96 C T PASS 1/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05651 0.05651 0.07820 None None None None None None EHMT1|0.048999784|62.96%

TLE4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 9 rs1934610
dbSNP Clinvar 		82187750 4177.4 A G PASS 1/1 474 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.98762 0.98760 0.01989 None None None None None None TLE4|0.875577828|4.08%

HAUS6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 9 rs7875404
dbSNP Clinvar 		19087154 1181.52 T C PASS 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13339 0.13340 0.16941 None None None None None None HAUS6|0.099395396|51.29%

HABP4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 9 rs754559
dbSNP Clinvar 		99212909 106.22 G C PASS 0/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18930 0.18930 None None None None None None HABP4|0.044009761|64.51%

PRSS55
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs75926785
dbSNP Clinvar 		10387207 1625.05 G C PASS 0/1 139 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.02496 0.02496 0.02714 None None None None None None PRSS55|0.001866578|91.35%

ADCY8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs12547243
dbSNP Clinvar 		131921956 4817.36 A G PASS 1/1 143 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

OC90
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs7461611
dbSNP Clinvar 		133048619 1402.79 T C PASS 1/1 130 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73223 0.73220 0.28107 None None None None None None OC90|0.014734589|77.34%

COL22A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs77613350
dbSNP Clinvar 		139712355 1794.26 G A PASS 0/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03355 0.03355 0.03122 None None None None None None COL22A1|0.06710202|58.12%

CSMD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs667859
dbSNP Clinvar 		2820745 951.68 G C PASS 0/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%

MTMR7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs2285291
dbSNP Clinvar 		17206588 1551.97 G A PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11382 0.11380 0.03983 None None None None None None MTMR7|0.118681657|47.65%

HTRA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs4733961
dbSNP Clinvar 		38835666 1975.91 T C PASS 0/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78195 0.78190 0.25965 None None None None None None HTRA4|0.040089057|65.75%

NECAB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs753019985
dbSNP Clinvar 		91813942 51.23 T C PASS 0/1 5 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None NECAB1|0.719168381|7.98%

CYP11B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs7818826
dbSNP Clinvar 		143959250 482.87 T C PASS 1/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59105 0.59110 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%

PTK2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 8 rs7005936
dbSNP Clinvar 		27293865 1423.8 C T PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.37021 0.37020 0.41173 None None None None None None PTK2B|0.424632627|19.37%

TRBV5-6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 7 rs267601342
dbSNP Clinvar 		142131703 156.41 A G PASS 0/1 139 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None None

VPS41
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 7 rs1001476
dbSNP Clinvar 		38829465 1558.4 C T PASS 0/1 122 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11821 0.11820 0.14455 None None None None None None VPS41|0.444303696|18.46%

ZAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 7 rs76325149
dbSNP Clinvar 		100389590 2808.21 C T PASS 0/1 189 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.04233 0.04233 0.05079 0.00 None None None None None None ZAN|0.002173013|90.5%

MUC3A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 7 rs750239834
dbSNP Clinvar 		100550424 190.7 C A PASS 0/1 378 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None MUC3A|0.001683398|91.94%

MGAM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 7 rs10255702
dbSNP Clinvar 		141724852 844.64 C T PASS 0/1 78 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07029 0.07029 0.04460 None None None None None None MGAM|0.010840797|80.22%
View combined sample_94.variant39 7 rs67998329
dbSNP Clinvar 		141755358 3829.29 T C PASS 0/1 207 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23163 0.23160 0.19860 None None None None None None MGAM|0.010840797|80.22%
View combined sample_94.variant39 7 rs2960758
dbSNP Clinvar 		141759274 128.45 T C PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 None None None None None None MGAM|0.010840797|80.22%
View combined sample_94.variant39 7 rs6975672
dbSNP Clinvar 		141796131 1328.73 G A PASS 1/1 79 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.67792 0.67790 None None None None None None MGAM|0.010840797|80.22%

LHFPL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 7 rs6949536
dbSNP Clinvar 		104110492 2253.88 C T PASS 0/1 226 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28514 0.28510 None None None None None None LHFPL3|0.842910442|4.81%

TMED4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 7 rs8580
dbSNP Clinvar 		44620836 854.92 C A PASS 0/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.76657 0.76660 0.29863 None None None None None None TMED4|0.155803186|42.17%

MUC12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 7 rs73168328
dbSNP Clinvar 		100612969 508.3 A G PASS 0/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None MUC12|0.000890812|96.07%

IRAK1BP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs6908105
dbSNP Clinvar 		79595097 1333.54 A G PASS 0/1 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26558 0.26560 0.33490 None None None None None None IRAK1BP1|0.071304062|57.14%

DSP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs1016835
dbSNP Clinvar 		7576527 1940.96 G A PASS 1/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

HLA-A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs41554520
dbSNP Clinvar 		29911319 271.16 G T PASS 0/1 250 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None HLA-A|0.043055872|64.8%

FLOT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs1136719
dbSNP Clinvar 		30695920 2503.47 C T PASS 0/1 140 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.07773 None None None None None None FLOT1|0.24612893|31.91%

EHMT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs535586
dbSNP Clinvar 		31860337 1891.17 T C PASS 1/1 167 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.83327 0.83330 0.25190 None None None None None None EHMT2|0.178387468|39.23%

SLC22A7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs2270860
dbSNP Clinvar 		43270151 343.92 C T PASS 0/1 27 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.46306 0.46310 0.42853 None None None None None None SLC22A7|0.070494197|57.37%,CRIP3|0.236592968|32.76%

XPO5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs1106841
dbSNP Clinvar 		43496662 655.3 A C PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39058 0.39060 0.45125 None None None None None None POLR1C|0.567751923|13.09%,XPO5|0.482773789|16.61%

LRRC16A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs913455
dbSNP Clinvar 		25420344 3985.89 C G PASS 0/1 118 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.94748 0.94750 0.08243 None None None None None None LRRC16A|0.106228514|49.94%

HLA-DPA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs1126543
dbSNP Clinvar 		33037419 910.13 G A PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43930 0.43930 0.27601 None None None None None None HLA-DPA1|0.007131154|83.36%

HLA-DRB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs140866337
dbSNP Clinvar 		32549614 1196.22 G A PASS 0/1 363 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None HLA-DRB1|0.032266025|68.49%

HLA-B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs2596493
dbSNP Clinvar 		31323945 3294.68 A C PASS 1/1 121 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87380 0.87380 None None None None None None HLA-B|0.04113834|65.4%

HLA-F
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs2076183
dbSNP Clinvar 		29691303 2033.57 G A PASS 0/1 237 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23103 0.23100 0.16220 None None None None None None HLA-F|0.002902735|88.83%

DDR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs147091812
dbSNP Clinvar 		30865372 895.71 C T PASS 0/1 104 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00493 None None None None None None DDR1|0.244168042|32.07%

RAB44
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs236487
dbSNP Clinvar 		36686272 810.91 C T PASS 1/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61062 0.61060 None None None None None None RAB44|0.013840487|77.99%

HLA-C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs2308604
dbSNP Clinvar 		31238851 3889.39 T C PASS 1/1 174 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26576 None None None None None None HLA-C|0.028815016|70%

SFTA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 6 rs2286656
dbSNP Clinvar 		30899571 1616.23 C T PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28235 0.28230 0.14304 None None None None None None SFTA2|0.008365192|82.28%

AQPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs10078748
dbSNP Clinvar 		115341611 3480.76 G T PASS 1/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None

ARHGAP26
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs258819
dbSNP Clinvar 		142593652 586.73 C T PASS 1/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%

MAT2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs11546512
dbSNP Clinvar 		162940999 1217.0 A G PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08187 0.08187 0.11856 None None None None None None MAT2B|0.25863499|30.87%

ITGA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs1531545
dbSNP Clinvar 		52193287 895.09 C T PASS 1/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.63379 0.63380 0.43465 None None None None None None ITGA1|0.38715487|21.59%

MCTP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs293035
dbSNP Clinvar 		94278129 414.34 T C PASS 1/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.23351 None None None None None None MCTP1|0.904537145|3.36%

SLCO4C1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs62370437
dbSNP Clinvar 		101575091 943.54 C T PASS 0/1 50 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.32967 0.32970 0.42425 None None None None None None SLCO4C1|0.038449749|66.31%

GEMIN5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs816736
dbSNP Clinvar 		154271948 4731.57 G A PASS 1/1 209 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GRM6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs2067011
dbSNP Clinvar 		178415937 714.58 A G PASS 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.50699 0.50700 0.49446 None None None None None None GRM6|0.079450762|55.3%

SDHA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs6555055
dbSNP Clinvar 		226160 2051.6 A C PASS 0/1 230 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.24740 0.24740 0.27095 None None None None None None SDHA|0.110561052|49.09%

CREBRF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs1129146
dbSNP Clinvar 		172550204 1157.95 C T PASS 0/1 133 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.15336 0.15340 0.14386 None None None None None None CREBRF|0.460655673|17.64%

CNOT6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs6877400
dbSNP Clinvar 		179996111 3765.88 C T PASS 1/1 101 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14647 None None None None None None CNOT6|0.652785136|9.99%

ZNF131
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs71627581
dbSNP Clinvar 		43161351 180.39 G A PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03594 0.03594 0.07927 None None None None None None ZNF131|0.298427161|27.76%

VCAN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs308365
dbSNP Clinvar 		82875800 1507.58 C T PASS 1/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99201 0.99200 0.02522 None None None None None None VCAN|0.557826321|13.44%

PRRC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs7522
dbSNP Clinvar 		126887569 1380.61 G A PASS 0/1 180 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.38778 0.38780 0.30624 None None None None None None PRRC1|0.035981528|67.13%

SLC12A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 5 rs2228112
dbSNP Clinvar 		127469859 606.91 A G PASS 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39437 0.39440 0.35595 None None None None None None SLC12A2|0.338805672|24.91%

TEC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs2271173
dbSNP Clinvar 		48172266 697.31 G A PASS 1/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.52077 0.52080 0.34111 None None None None None None TEC|0.720083632|7.97%

SMARCAD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs2306802
dbSNP Clinvar 		95186055 1700.45 A G PASS 0/1 128 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33526 0.33530 0.29323 None None None None None None SMARCAD1|0.584402799|12.39%

NDNF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs2276959
dbSNP Clinvar 		121966807 642.64 C T PASS 0/1 64 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.65775 0.65770 0.32985 None None None None None None NDNF|0.097984397|51.52%

ASIC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 4 rs6848883
dbSNP Clinvar 		156787340 4583.3 G A PASS 1/1 101 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

INPP4B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 4 rs34561493
dbSNP Clinvar 		143043397 900.41 G A PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05671 0.05671 0.07166 None None None None None None INPP4B|0.434163387|18.99%

FRG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs75112782
dbSNP Clinvar 		190881992 115.64 T C PASS 0/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1|0.098149242|51.5%

USO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs324726
dbSNP Clinvar 		76722353 3004.59 G A PASS 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.65256 0.65260 0.36951 None None None None None None USO1|0.367488319|22.9%

NAAA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs4859572
dbSNP Clinvar 		76857388 825.91 C T PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21785 0.21790 0.19430 None None None None None None NAAA|0.026977038|70.9%

PDLIM3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs4635850
dbSNP Clinvar 		186423637 917.71 G A PASS 0/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.65955 0.65950 0.30332 None None None None None None PDLIM3|0.223331609|34.03%

LRPAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs13325
dbSNP Clinvar 		3519762 1991.85 A G PASS 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09824 0.09824 0.16585 None None None None None None LRPAP1|0.00866667|81.97%

USO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs13119659
dbSNP Clinvar 		76720885 1514.65 T C PASS 0/1 123 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75280 0.75280 0.32526 None None None None None None USO1|0.367488319|22.9%

RNF212
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs4045481
dbSNP Clinvar 		1090625 1172.84 G A PASS 0/1 114 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54673 0.54670 0.42957 None None None None None None RNF212|0.003109274|88.48%

NCAPG
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs2302212
dbSNP Clinvar 		17818885 4339.13 T C PASS 1/1 128 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.34645 0.34640 0.43918 None None None None None None NCAPG|0.415775772|19.83%

LPHN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs1397548
dbSNP Clinvar 		62845490 1982.25 A G PASS 0/1 114 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49940 0.49940 0.35237 None None None None None None ADGRL3|0.887869356|3.75%

UBA6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs17572160
dbSNP Clinvar 		68562365 1497.76 A G PASS 0/1 110 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18470 0.18470 0.23665 None None None None None None UBA6|0.318331241|26.22%

TSPAN5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs1128512
dbSNP Clinvar 		99393736 1238.61 T A PASS 0/1 136 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11522 0.11520 0.11541 None None None None None None TSPAN5|0.702794075|8.42%

SLC7A11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 4 rs4479754
dbSNP Clinvar 		139100372 733.11 C T PASS 1/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91354 0.91350 0.08897 None None None None None None SLC7A11|0.274191322|29.57%

ABCC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs7636910
dbSNP Clinvar 		183699516 494.71 T C PASS 1/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%

VPS8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs4572747
dbSNP Clinvar 		184700356 2097.14 A C PASS 1/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85044 0.85040 0.11577 None None None None None None VPS8|0.343519116|24.6%

ITPR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs2306875
dbSNP Clinvar 		4712413 907.72 G A PASS 0/1 106 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.31915 None None None None None None ITPR1|0.673215803|9.28%
View combined sample_94.variant39 3 rs34635052
dbSNP Clinvar 		4730181 819.46 C T PASS 0/1 91 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00240 0.00240 0.00229 None None None None None None ITPR1|0.673215803|9.28%

FANCD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs72492997
dbSNP Clinvar 		10088266 747.45 G T PASS 0/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FANCD2|0.244996414|32.01%

FAM198A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs658958
dbSNP Clinvar 		43073761 3580.06 G A PASS 1/1 206 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43830 0.43830 0.38371 None None None None None None FAM198A|0.022008467|73.15%

NEK10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs10510594
dbSNP Clinvar 		27326451 862.58 A G PASS 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21006 0.21010 0.23326 None None None None None None NEK10|0.359174341|23.48%

FLNB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs2362904
dbSNP Clinvar 		58112488 894.76 C T PASS 0/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.64856 0.64860 0.40243 None None None None None None FLNB|0.587014407|12.25%

HEG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs59232004
dbSNP Clinvar 		124738107 1607.44 C T PASS 0/1 92 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49221 0.49220 0.46343 None None None None None None HEG1|0.04030264|65.66%

MLF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs4875
dbSNP Clinvar 		158320597 824.87 T C PASS 0/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.57648 0.57650 0.40341 None None None None None None MLF1|0.09350303|52.46%

CAND2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs4684883
dbSNP Clinvar 		12861586 708.39 T C PASS 0/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14836 0.14840 0.13982 None None None None None None CAND2|0.05381052|61.53%

HCLS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs3772126
dbSNP Clinvar 		121354583 653.18 G A PASS 0/1 81 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21825 0.21830 0.18768 None None None None None None HCLS1|0.153988686|42.41%

COL6A5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 3 rs10212372
dbSNP Clinvar 		130104206 273.57 A G PASS 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.40176 0.40180 None None None None None None COL6A5|0.015397469|76.88%

PI4KA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 22 rs1135929
dbSNP Clinvar 		21066897 1223.76 G A PASS 1/1 41 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43331 0.43330 None None None None None None PI4KA|0.213566628|35.17%

PLXNB2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 22 rs1127000
dbSNP Clinvar 		50716167 2976.95 G A PASS 1/1 109 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49740 0.49740 0.47626 None None None None None None PLXNB2|0.022289222|73.04%

PARVB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 22 rs738479
dbSNP Clinvar 		44489896 2787.45 T C PASS 1/1 82 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.64557 0.64560 0.41750 None None None None None None PARVB|0.046027843|63.9%

SEC14L6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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 22 rs5753191
dbSNP Clinvar 		30934887 529.2 G A PASS 0/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.53195 0.53190 1.80 0.00 0.09823 T None None None None SEC14L6|0.01183818|79.35%