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+ Genes 244

Genes:
ABCB4, AC096644.1, ADAL, ADCY8, AIM1L, ANAPC1, ANKRD36, ANKRD36C, ANO7, ANXA9, AQPEP, ARHGAP17, ARHGAP26, ASIC5, ATF1, ATP11A, ATP12A, ATP6V0A2, ATP8B1, ATP8B3, B3GALTL, BIN3, BRCA1, C10orf53, C17orf49, C20orf96, CABP5, CACNA2D3, CAPN2, CARHSP1, CAST, CBWD1, CCDC68, CCDC88C, CCND1, CCND2, CD99, CDH17, CELA3B, CNOT6, CNTN2, COG3, COG5, COL16A1, COL26A1, COL5A3, COL6A5, COLGALT2, CPSF3L, CSF1, CSMD1, CSNK1G1, CTD-3214H19.16, CYB561D2, DGKA, DLG5, DNAAF3, DNAH8, DNAJC16, DNASE2B, DNMT3B, DSP, DYRK4, DYSF, EHMT2, EI24, EIF4B, ELMSAN1, FAF1, FAM182B, FAM198A, FAM3B, FAM98C, FHAD1, FKBP2, FLNB, FMNL2, FRG1B, GAB4, GCOM1, GDPD2, GEMIN5, GFER, GGA2, GLTPD2, GNG8, GPATCH1, GPD1, GPR75-ASB3, GRID1, GRID2IP, GRIK4, GRM6, HABP4, HEATR1, HEATR4, HEG1, HLA-A, HLA-B, HLA-C, HLA-DRB5, HPS5, HTRA4, IGHV3-7, INPP4B, IRGQ, ITGA1, ITGA11, ITGA4, ITGA5, ITPR1, KCNIP4, KIAA1244, KIAA1671, KIAA1731, KRT75, LASP1, LENG8, LGI4, LHFPL3, LL22NC03-75H12.2, LPHN3, LRP1B, LRRC16A, LSG1, LTF, MALRD1, MAP3K19, MAP3K4, MAST1, MAT2B, MCOLN1, MCTP1, MEF2A, MGAM, MLF1, MRO, MROH2A, MRPL30, MRPS9, MS4A7, MTF1, MUC12, MUC16, MUC2, MUC3A, MYH13, MYH7, MYO1B, NAV2, NCAPD2, NCAPG, NCKAP1, NDNF, NEK10, NEURL4, NID2, NLRP13, NMS, NPC1, NUP85, OBSL1, OC90, ODF2, PARVB, PDE4DIP, PDLIM3, PIEZO1, PIEZO2, PIH1D1, PITRM1, PIWIL4, PLCB1, PLD2, PLD5, PLXNA2, POLR2A, PPIL2, PRIM2, PRRC1, PTK2B, PTPRA, PXDN, RAB44, RAP1GAP2, RASL11A, REC8, RIC3, RNF212, RP11-434D12.1, RP11-80A15.1, RPAIN, RPP21, RPS14, RYR3, SCNN1B, SDHA, SEC14L6, SGCG, SH3BP1, SH3YL1, SIRPA, SIRPB1, SLC12A2, SLC12A7, SLC22A7, SLC34A3, SLC7A11, SLC7A7, SLMAP, SNAPC4, SORCS2, SPEF2, SPTB, SRGAP2, SUPT16H, TEC, TLE4, TMED4, TMX1, TNNI2, TRBV5-6, TRDN, TRPM5, TSC1, TTC3, TTC40, TTL, TTLL1, UBA6, UBR5, UNC45B, USO1, VAV3, VCAN, VEGFB, VPS8, VWF, WDR19, WDR62, WDR64, XPO5, ZC3H11A, ZFAND5,

+ Genes associated with diseases 57

Genes at Omim

ABCB4, ARHGAP26, ATP6V0A2, ATP8B1, BRCA1, CAST, CCDC88C, CCND1, CCND2, CNTN2, COG5, DNAAF3, DNMT3B, DSP, DYSF, FLNB, GFER, GPD1, GRM6, HLA-A, HLA-B, HLA-C, HPS5, ITPR1, KRT75, LGI4, MAST1, MCOLN1, MEF2A, MLF1, MYH7, NCAPD2, NPC1, NPC1, NUP85, OBSL1, PIEZO1, PIEZO2, PLCB1, PXDN, RNF212, RPS14, SCNN1B, SDHA, SGCG, SLC34A3, SLC7A7, SPTB, TEC, TNNI2, TRDN, TSC1, UNC45B, VCAN, VWF, WDR19, WDR62,
ABCB4 Gallbladder disease 1, 600803 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (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)
BRCA1 Fanconi anemia, complementation group S, 617883 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
{Breast-ovarian cancer, familial, 1}, 604370 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (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)
CNTN2 ?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (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)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (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)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (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)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (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)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
OBSL1 3-M syndrome 2, 612921 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
SCNN1B Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)
Liddle syndrome 1, 177200 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (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)
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
UNC45B ?Cataract 43, 616279 (3)
VCAN Wagner syndrome 1, 143200 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

Genes at Clinical Genomics Database

ABCB4, ATP6V0A2, ATP8B1, BRCA1, CAST, CCDC88C, CCND2, CNTN2, COG5, DNMT3B, DSP, DYSF, FLNB, GFER, GPD1, GRIK4, GRM6, HLA-A, HLA-B, HPS5, ITPR1, KRT75, MCOLN1, MYH7, NPC1, OBSL1, PIEZO1, PIEZO2, PLCB1, PXDN, SCNN1B, SDHA, SGCG, SLC34A3, SLC7A7, SPTB, TNNI2, TRDN, TSC1, UNC45B, VCAN, VWF, WDR19, WDR62,
ABCB4 Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1
Pancreatic cancer, susceptibility to, 4
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCDC88C Spinocerebellar ataxia 40
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CNTN2 Epilepsy, familial adult myoclonic 5
COG5 Congenital disorder of glycosylation, type IIi
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
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
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
GFER Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
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
MCOLN1 Mucolipidosis IV
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
OBSL1 Three M syndrome 2
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PLCB1 Epileptic encephalopathy, early infantile, 12
PXDN Corneal opacification with other ocular anomalies
SCNN1B Pseudohypoaldosteronism, type I
Liddle syndrome
Bronchiectasis with or without elevated sweat chloride 3
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SLC7A7 Lysinuric protein intolerance
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
UNC45B Cataract 43
VCAN Wagner syndrome 1
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

Genes at HGMD

Summary

Number of Variants: 254
Number of Genes: 244

Export to: CSV

ABCB4
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_95.variant40 7 rs2109505
dbSNP Clinvar 		87079406 1387.9 T A PASS 0/1 111 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26138 0.26140 0.22490 None None None None None None ABCB4|0.238504845|32.55%

AC096644.1
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_95.variant40 1 rs1361256
dbSNP Clinvar 		220607685 1654.53 G A PASS 1/1 50 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81010 0.81010 None None None None None None None

ADAL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 15 rs2278857
dbSNP Clinvar 		43632549 2321.83 T C PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.53914 0.53910 0.48339 None None None None None None ADAL|0.343367733|24.61%

ADCY8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 8 rs12547243
dbSNP Clinvar 		131921956 4817.36 A G PASS 0/1 156 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

AIM1L
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_95.variant40 1 rs11247919
dbSNP Clinvar 		26664968 1004.89 C T PASS 0/1 98 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28614 0.28610 0.42081 None None None None None None AIM1L|0.109158012|49.38%

ANAPC1
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_95.variant40 2 rs4848197
dbSNP Clinvar 		112605302 270.87 C T PASS 1/1 8 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56250 0.56250 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD36
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 2 rs5008284
dbSNP Clinvar 		97833342 546.62 G A PASS 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C
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_95.variant40 2 rs62153754
dbSNP Clinvar 		96601364 556.89 C T PASS 0/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00 0.00 None None None None None None ANKRD36C|0.001406745|93.3%

ANO7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 2 rs2074840
dbSNP Clinvar 		242141719 1932.98 C T PASS 1/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.36491 None None None None None None ANO7|0.004152604|86.8%

ANXA9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 1 rs7532008
dbSNP Clinvar 		150960350 511.02 A C PASS 1/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.35315 None None None None None None ANXA9|0.051149554|62.29%

AQPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 5 rs10078748
dbSNP Clinvar 		115341611 3480.76 G T PASS 1/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None

ARHGAP17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 16 rs17624477
dbSNP Clinvar 		24955183 892.92 T C PASS 0/1 91 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03974 0.03974 0.05033 None None None None None None ARHGAP17|0.097918586|51.53%

ARHGAP26
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 5 rs258819
dbSNP Clinvar 		142593652 586.73 C T PASS 1/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%

ASIC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 4 rs6848883
dbSNP Clinvar 		156787340 4583.3 G A PASS 1/1 140 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%

ATF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 12 rs1129406
dbSNP Clinvar 		51203371 1867.15 C T PASS 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

ATP11A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 13 rs1290177
dbSNP Clinvar 		113536132 2197.72 T C PASS 1/1 143 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%

ATP12A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 13 rs7981616
dbSNP Clinvar 		25265103 1115.52 A G PASS 0/1 116 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.20437 None None None None None None ATP12A|0.195110246|37.26%

ATP6V0A2
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_95.variant40 12 rs7135542
dbSNP Clinvar 		124229429 2448.64 T C PASS 1/1 224 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%

ATP8B1
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_95.variant40 18 rs319438
dbSNP Clinvar 		55364852 1298.94 A G PASS 1/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%

ATP8B3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 19 rs3764606
dbSNP Clinvar 		1784944 604.02 A G PASS 0/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42951 0.42950 0.47849 None None None None None None ATP8B3|0.003576519|87.64%

B3GALTL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 13 rs4943266
dbSNP Clinvar 		31821992 1879.73 T C PASS 1/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BIN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 8 rs11550509
dbSNP Clinvar 		22526559 1627.74 G A PASS 0/1 156 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%

BRCA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 17 rs754152768
dbSNP Clinvar 		41201210 1407.72 A G PASS 0/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None BRCA1|0.986984945|1.2%

C10orf53
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 10 rs1133837
dbSNP Clinvar 		50901938 2255.68 C T PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35304 0.35300 0.44049 None None None None None None C10orf53|0.004766771|86.14%

C17orf49
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 17 rs14309
dbSNP Clinvar 		6919093 1020.16 T C PASS 0/1 122 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75739 0.75740 0.22774 None None None None None None RNASEK-C17orf49|0.371919774|22.61%,C17orf49|0.341426499|24.73%

C20orf96
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 20 rs7271033
dbSNP Clinvar 		259969 5472.4 G C PASS 1/1 256 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%

CABP5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 19 rs8105198
dbSNP Clinvar 		48543862 2557.34 G A PASS 0/1 85 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78674 0.78670 0.22897 None None None None None None CABP5|0.074903985|56.31%

CACNA2D3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 3 rs10510774
dbSNP Clinvar 		54919351 1687.38 A G PASS 0/1 129 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05671 0.05671 0.11308 None None None None None None CACNA2D3|0.956528589|2.05%

CAPN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs17596
dbSNP Clinvar 		223905532 2095.33 G A PASS 1/1 109 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59545 0.59540 0.33746 None None None None None None CAPN2|0.174674652|39.7%

CARHSP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 16 rs2231706
dbSNP Clinvar 		8953030 1762.53 C T PASS 0/1 96 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00619 0.00619 0.01301 None None None None None None CARHSP1|0.085125444|54.13%

CAST
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 5 rs7724759
dbSNP Clinvar 		96076487 1352.11 G A PASS 0/1 41 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17492 0.17490 0.24704 None None None None None None CAST|0.162925975|41.16%

CBWD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 9 . 154795 2395.91 T C PASS 0/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78694 0.23615 None None None None None None CBWD1|0.029140848|69.81%

CCDC68
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 18 rs1344011
dbSNP Clinvar 		52605188 927.02 C T PASS 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CCDC88C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 14 rs1970912
dbSNP Clinvar 		91773568 1070.69 T C PASS 0/1 125 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.42060 None None None None None None CCDC88C|0.052356783|61.96%

CCND1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 11 rs9344
dbSNP Clinvar 		69462910 27299.3 G A PASS 1/1 867 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.38674 None None None None None None CCND1|0.99996103|0.13%

CCND2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 12 rs3217805
dbSNP Clinvar 		4388084 949.42 C G PASS 0/1 159 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.32631 None None None None None None CCND2|0.94794487|2.32%

CD99
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_95.variant40 X rs1136470
dbSNP Clinvar 		2644302 315.32 C T PASS 0/1 16 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11861 0.11860 0.13033 None None None None None None CD99|0.003192915|88.33%

CDH17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 8 rs35792427
dbSNP Clinvar 		95161102 1210.9 G A PASS 0/1 119 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12680 0.12680 0.09995 None None None None None None CDH17|0.034427264|67.65%

CELA3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs1803531
dbSNP Clinvar 		22310824 982.03 T C PASS 1/1 24 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.89317 0.89320 0.05368 None None None None None None CELA3B|0.015617411|76.71%

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_95.variant40 5 rs6877400
dbSNP Clinvar 		179996111 3765.88 C T PASS 1/1 97 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14647 None None None None None None CNOT6|0.652785136|9.99%

CNTN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs114050151
dbSNP Clinvar 		205027790 183.22 A C PASS 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06909 0.06909 0.04383 None None None None None None CNTN2|0.410798215|20.14%

COG3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 13 rs3014960
dbSNP Clinvar 		46077381 1061.95 G A PASS 1/1 43 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

COG5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 7 rs17349904
dbSNP Clinvar 		106897237 576.22 A C PASS 0/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.15893 None None None None None None COG5|0.360996774|23.37%

COL16A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs2228550
dbSNP Clinvar 		32164206 2865.37 T G PASS 1/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.62580 0.62580 0.30447 None None None None None None COL16A1|0.160017905|41.54%

COL26A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 7 rs17135626
dbSNP Clinvar 		101194424 762.58 C T PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29054 0.29050 0.35818 None None None None None None COL26A1|0.059520302|60.03%

COL5A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 19 rs1559186
dbSNP Clinvar 		10106936 176.69 G C PASS 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39497 0.39500 0.41921 None None None None None None COL5A3|0.039580114|65.88%

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_95.variant40 3 rs10212372
dbSNP Clinvar 		130104206 273.57 A G PASS 0/1 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.40176 0.40180 None None None None None None COL6A5|0.015397469|76.88%

COLGALT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs2296713
dbSNP Clinvar 		183909717 1549.87 G A PASS 0/1 123 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17232 0.17230 0.15762 None None None None None None COLGALT2|0.160790212|41.43%

CPSF3L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 . 1257289 1012.93 T C DRAGENHardSNP 0/1 304 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CPSF3L|0.282030759|28.96%

CSF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs2229166
dbSNP Clinvar 		110466810 686.54 C A PASS 1/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31649 0.31650 0.23647 None None None None None None CSF1|0.062906751|59.11%

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_95.variant40 8 rs667859
dbSNP Clinvar 		2820745 951.68 G C PASS 1/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%
View combined sample_95.variant40 8 rs17066296
dbSNP Clinvar 		3351147 1693.56 G A PASS 0/1 129 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11142 0.11140 0.06649 None None None None None None CSMD1|0.119480951|47.53%

CSNK1G1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 15 rs6494466
dbSNP Clinvar 		64508763 1150.24 G A PASS 1/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48542 0.48540 0.46202 None None None None None None CSNK1G1|0.679298986|9.11%

CTD-3214H19.16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 19 rs80109157
dbSNP Clinvar 		7747129 1385.49 G C PASS 0/1 155 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03954 0.03954 0.05009 None None None None None None TRAPPC5|0.046770084|63.66%

CYB561D2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 3 rs75420946
dbSNP Clinvar 		50389477 950.69 T C PASS 0/1 96 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.00454 None None None None None None CYB561D2|0.363901848|23.16%

DGKA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 12 rs1136082
dbSNP Clinvar 		56335107 2091.5 A G PASS 1/1 151 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84764 0.84760 0.14663 None None None None None None DGKA|0.088457304|53.54%

DLG5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 10 rs1248634
dbSNP Clinvar 		79579222 1455.14 G A PASS 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.22690 None None None None None None DLG5|0.1770919|39.42%

DNAAF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 19 rs7260320
dbSNP Clinvar 		55672784 344.45 A G PASS 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.22704 0.22700 0.23335 None None None None None None DNAAF3|0.005278927|85.46%

DNAH8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 6 rs1678729
dbSNP Clinvar 		38800209 2532.91 T C PASS 0/1 127 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.27256 0.27260 0.21444 None None None None None None DNAH8|0.998961058|0.42%

DNAJC16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs2236215
dbSNP Clinvar 		15892415 570.15 A C PASS 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.35876 None None None None None None DNAJC16|0.148396459|43.23%

DNASE2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs7511984
dbSNP Clinvar 		84878228 1458.16 C T PASS 0/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13558 0.13560 0.18507 None None None None None None DNASE2B|0.074448603|56.42%

DNMT3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 20 rs2424922
dbSNP Clinvar 		31386449 1413.18 T C PASS 1/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75579 0.75580 0.42227 None None None None None None DNMT3B|0.978021249|1.52%

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_95.variant40 6 rs1016835
dbSNP Clinvar 		7576527 1940.96 G A PASS 1/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

DYRK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 12 rs3741925
dbSNP Clinvar 		4705317 984.19 C T PASS 0/1 131 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23622 0.23620 0.22743 None None None None None None DYRK4|0.071661902|57.07%

DYSF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 2 rs2303606
dbSNP Clinvar 		71838597 1397.38 C A PASS 0/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44948 0.44950 0.47155 None None None None None None DYSF|0.429167677|19.17%

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_95.variant40 6 rs535586
dbSNP Clinvar 		31860337 1891.17 T C PASS 1/1 142 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.83327 0.83330 0.25190 None None None None None None EHMT2|0.178387468|39.23%

EI24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 11 rs4627097
dbSNP Clinvar 		125452313 553.61 A G PASS 0/1 68 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.34046 0.34050 0.35699 None None None None None None EI24|0.31494271|26.44%

EIF4B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 12 rs8916
dbSNP Clinvar 		53433486 989.79 C T PASS 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75379 0.75380 0.19484 None None None None None None EIF4B|0.258261547|30.89%

ELMSAN1
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_95.variant40 14 rs2075025
dbSNP Clinvar 		74196686 2213.61 T C PASS 0/1 204 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.60403 0.60400 0.44585 None None None None None None ELMSAN1|0.126163876|46.42%

FAF1
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_95.variant40 1 rs11205753
dbSNP Clinvar 		51121198 655.01 T C PASS 0/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09225 0.09225 0.09826 None None None None None None FAF1|0.957930886|2.02%

FAM182B
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_95.variant40 20 rs75063166
dbSNP Clinvar 		25829342 5706.97 T C PASS 0/1 456 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FAM182B|0.001507273|92.73%

FAM198A
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_95.variant40 3 rs658958
dbSNP Clinvar 		43073761 3580.06 G A PASS 0/1 178 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43830 0.43830 0.38371 None None None None None None FAM198A|0.022008467|73.15%

FAM3B
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_95.variant40 21 rs417708
dbSNP Clinvar 		42717662 1073.83 T C PASS 1/1 56 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FAM98C
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_95.variant40 19 rs3745957
dbSNP Clinvar 		38893856 4741.68 G C PASS 0/1 457 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13059 0.13060 0.04454 None None None None None None FAM98C|0.016115397|76.41%

FHAD1
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_95.variant40 1 rs75432354
dbSNP Clinvar 		15599025 519.07 G A PASS 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12760 0.12760 0.12352 None None None None None None FHAD1|0.011540707|79.54%

FKBP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 11 rs654573
dbSNP Clinvar 		64011441 2058.91 T C PASS 1/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97684 0.97680 0.02039 None None None None None None FKBP2|0.081255498|54.93%

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_95.variant40 3 rs2362904
dbSNP Clinvar 		58112488 894.76 C T PASS 0/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.64856 0.64860 0.40243 None None None None None None FLNB|0.587014407|12.25%

FMNL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 2 rs4664114
dbSNP Clinvar 		153378459 967.03 T C PASS 0/1 88 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.34572 None None None None None None FMNL2|0.571016453|12.93%

FRG1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 20 rs80066412
dbSNP Clinvar 		29625984 190.78 T C PASS 0/1 101 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1B|0.009509512|81.26%

GAB4
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_95.variant40 22 rs4819925
dbSNP Clinvar 		17446991 124.45 C T PASS 1/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

GCOM1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 15 rs2958059
dbSNP Clinvar 		57918090 2394.88 A G PASS 1/1 80 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None GCOM1|0.172662114|39.98%,MYZAP|0.150722079|42.86%,POLR2M|0.038007903|66.46%

GDPD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 X rs2296542
dbSNP Clinvar 		69652762 1806.85 A G PASS 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%

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_95.variant40 5 rs816736
dbSNP Clinvar 		154271948 4731.57 G A PASS 1/1 248 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GFER
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 16 rs1046502
dbSNP Clinvar 		2035868 1008.97 C T PASS 1/1 59 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23083 0.23080 0.21237 None None None None None None GFER|0.159464404|41.65%

GGA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 16 rs1071685
dbSNP Clinvar 		23521643 2559.52 G C PASS 1/1 93 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69090 0.69090 None None None None None None GGA2|0.075311277|56.21%

GLTPD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 17 rs12951761
dbSNP Clinvar 		4693054 3416.63 G A PASS 1/1 247 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.51258 0.51260 0.44769 None None None None None None GLTPD2|0.006085441|84.48%

GNG8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 19 rs12974613
dbSNP Clinvar 		47137459 3843.35 C T PASS 0/1 143 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21106 0.21110 0.32257 None None None None None None GNG8|0.153964917|42.42%

GPATCH1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 19 rs2287681
dbSNP Clinvar 		33608733 1192.12 C A PASS 0/1 106 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36142 0.36140 0.25050 None None None None None None GPATCH1|0.063745069|58.94%

GPD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 12 . 50501809 188.36 C A PASS 0/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None GPD1|0.247841281|31.74%

GPR75-ASB3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 2 rs17521008
dbSNP Clinvar 		53955850 929.87 C T PASS 0/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17173 0.17170 0.16600 None None None None None None GPR75-ASB3|0.248792517|31.63%

GRID1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 10 rs61856638
dbSNP Clinvar 		88126072 2614.1 G A PASS 0/1 174 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.34365 0.34370 0.24633 None None None None None None GRID1|0.568665369|13.06%

GRID2IP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 7 rs61732373
dbSNP Clinvar 		6550540 815.03 G A PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00859 0.00859 0.02738 None None None None None None GRID2IP|0.055491049|61.06%

GRIK4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 11 rs2156634
dbSNP Clinvar 		120776001 2998.21 G A PASS 1/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87800 0.87800 0.11927 None None None None None None GRIK4|0.59773792|11.84%

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_95.variant40 5 rs2067011
dbSNP Clinvar 		178415937 714.58 A G PASS 0/1 42 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.50699 0.50700 0.49446 None None None None None None GRM6|0.079450762|55.3%

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_95.variant40 9 rs754559
dbSNP Clinvar 		99212909 106.22 G C PASS 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18930 0.18930 None None None None None None HABP4|0.044009761|64.51%

HEATR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 1 rs4518892
dbSNP Clinvar 		236744712 1038.2 C A PASS 0/1 20 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.47855 None None None None None None HEATR1|0.11883394|47.61%

HEATR4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 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_95.variant40 14 rs8014577
dbSNP Clinvar 		73963383 1168.45 T C PASS 1/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.80970 0.80970 0.23750 None None None None None None HEATR4|0.005039419|85.75%

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_95.variant40 3 rs59232004
dbSNP Clinvar 		124738107 1607.44 C T PASS 0/1 107 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49221 0.49220 0.46343 None None None None None None HEG1|0.04030264|65.66%

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_95.variant40 6 rs41554520
dbSNP Clinvar 		29911319 271.16 G T PASS 0/1 330 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None HLA-A|0.043055872|64.8%

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_95.variant40 6 rs151341076
dbSNP Clinvar 		31324864 3623.36 G A PASS 0/1 165 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09724 0.09724 None None None None None None HLA-B|0.04113834|65.4%