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+ Genes 217

Genes:
ABCB4, AC096644.1, AC106873.4, ACSF2, ADAL, ADCY8, AGAP1, AIM1L, ANAPC1, ANO7, APCDD1L, AQPEP, ARHGAP26, ARHGAP44, ASGR2, ASIC5, ATF1, ATP12A, ATP2A3, ATP6V0A2, ATP8B1, ATP8B3, B3GALTL, BIN3, C17orf49, C20orf96, CABP5, CAMSAP1, CAPN2, CAPN8, CAST, CCDC178, CCDC68, CCDC88C, CCM2, CCND1, CCND2, CDC16, CDH17, CELA3B, CENPM, CEP290, CLEC2D, CNOT6, COG3, COL16A1, COL26A1, COL4A4, COL5A1, COL5A3, COL6A5, COLGALT2, COPE, CYP11B1, DENND3, DEPDC5, DGKA, DLG5, DNAH8, DOCK9, DSP, DYSF, EHMT2, EI24, EIF4B, ELMSAN1, FAM124B, FAM182B, FAM3B, FKBP2, FLNB, FMNL2, GAB4, GAREML, GCOM1, GDPD2, GEMIN5, GIPC1, GPR75-ASB3, GRAMD1A, GRIK4, GTPBP10, HCLS1, HEATR1, HEATR4, HEG1, HLA-A, HLA-B, HLA-C, HPS5, HTRA4, IRGQ, ITGA1, ITGA11, ITGA2B, ITGA4, ITGA5, ITPR1, KATNB1, KIAA0368, KIAA1549L, KIAA1731, KRT75, LASP1, LENG8, LGI4, LHFPL3, LIG1, LILRB2, LMLN, LPHN3, LRP1B, LRRC16A, MALRD1, MBD4, MBTPS2, MCTP1, MEF2A, MGAM, MMEL1, MROH2A, MRPL30, MS4A7, MTF1, MYH13, MYH7, MYOM2, NAV2, NCAPD2, NDNF, NEK10, NID2, NMS, NOSIP, NPC1, NPHP1, NUP85, OC90, ODF2, PARP4, PARVB, PDE4DIP, PDLIM3, PEX6, PGS1, PIH1D1, PITRM1, PKD1L1, PKN2, PLD2, PLXNA2, PLXNB2, POLR2A, PTK2B, PTPRA, PXDN, RAB44, RAP1GAP2, RASL11A, RCN3, REC8, ROBO1, RP11-80A15.1, RPS14, RPTOR, RYR3, SCN7A, SCYL1, SCYL3, SEC14L6, SERPINB11, SGCG, SLC12A7, SLC25A41, SLC34A3, SLC7A11, SLC9A9, SLCO4C1, SLMAP, SMARCAD1, SNAPC4, SORBS1, SPATA4, SPEF2, SRGAP2, STRC, SUPT16H, SYT9, TEC, TEX11, TEX14, TLE4, TMED4, TMEM184C, TMX1, TNNI2, TSC1, TTC40, TTLL1, UBA6, USO1, USP14, USP33, VAV3, VCAN, VPS41, VPS8, VWF, WDR63, WNK2, XPO5, XPO7, ZC3H11A, ZFAND5, ZFPM1, ZNF419, ZNF609,

+ Genes associated with diseases 50

Genes at Omim

ABCB4, ARHGAP26, ATP6V0A2, ATP8B1, CAST, CCDC88C, CCND1, CCND2, CEP290, COL4A4, COL5A1, CYP11B1, DEPDC5, DSP, DYSF, FLNB, HLA-A, HLA-B, HLA-C, HPS5, ITGA2B, ITPR1, KATNB1, KRT75, LGI4, MBTPS2, MEF2A, MYH7, NCAPD2, NPC1, NPC1, NPHP1, NUP85, PEX6, PKD1L1, PXDN, RPS14, SCYL1, SGCG, SLC34A3, SLC9A9, SMARCAD1, STRC, TEC, TEX11, TEX14, TNNI2, TSC1, VCAN, VWF,
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)
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)
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)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (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)
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)
ITGA2B Glanzmann thrombasthenia, 273800 (3)
Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KATNB1 Lissencephaly 6, with microcephaly, 616212 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (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)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
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 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPHP1 Joubert syndrome 4, 609583 (3)
Nephronophthisis 1, juvenile, 256100 (3)
Senior-Loken syndrome-1, 266900 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
PEX6 Heimler syndrome 2, 616617 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
SCYL1 Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
SGCG Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC9A9 {?Autism susceptibility 16}, 613410 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
STRC Deafness, autosomal recessive 16, 603720 (3)
TEC Transient erythroblastopenia of childhood (2)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TEX14 ?Spermatogenic failure 23, 617707 (3)
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)
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)

Genes at Clinical Genomics Database

ABCB4, ATP6V0A2, ATP8B1, CAST, CCDC88C, CCM2, CCND2, CEP290, COL4A4, COL5A1, CYP11B1, DEPDC5, DSP, DYSF, FLNB, GRIK4, HLA-A, HLA-B, HPS5, ITGA2B, ITPR1, KATNB1, KRT75, MBTPS2, MYH7, NPC1, NPHP1, PEX6, PXDN, SCYL1, SGCG, SLC34A3, SLC9A9, SMARCAD1, STRC, TEX11, TNNI2, TSC1, VCAN, VWF,
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
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCDC88C Spinocerebellar ataxia 40
CCM2 Cerebral cavernous malformations 2
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
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
DEPDC5 Epilepsy, familial focal, with variable foci
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
GRIK4 Response to antidepressant treatment with citalopram
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HPS5 Hermansky-Pudlak syndrome 5
ITGA2B Glanzmann thrombasthenia
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KATNB1 Lissencephaly 6, with microcephaly
KRT75 Pseudofolliculitis barbae
MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked
IFAP syndrome with or without BRESHECK syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
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
NPHP1 Joubert syndrome 4
Senior-Loken syndrome 1
Nephronophthisis 1
PEX6 Heimler syndrome 2
PXDN Corneal opacification with other ocular anomalies
SCYL1 Spinocerebellar ataxia, autosomal recessive 21
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SLC9A9 Autism susceptibility 16
SMARCAD1 Adermatoglyphia
STRC Deafness, autosomal recessive 16
TEX11 Spermatogenic failure, X-linked 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
VCAN Wagner syndrome 1
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3

Genes at HGMD

Summary

Number of Variants: 223
Number of Genes: 217

Export to: CSV

ABCB4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 7 rs2109505
dbSNP Clinvar 		87079406 1277.77 T A PASS 0/1 143 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs1361256
dbSNP Clinvar 		220607685 1487.77 G A PASS 1/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81010 0.81010 None None None None None None None

AC106873.4
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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 7 rs150371661
dbSNP Clinvar 		116607347 649.77 G A PASS 0/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00639 0.00639 None None None None None None ST7|0.707617012|8.29%,ST7-OT4|0.00146705|92.95%

ACSF2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2305998
dbSNP Clinvar 		48549791 175.77 C G PASS 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%

ADAL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 15 rs2278857
dbSNP Clinvar 		43632549 1238.77 T C PASS 0/1 174 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 8 rs12547243
dbSNP Clinvar 		131921956 5182.77 A G PASS 1/1 172 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

AGAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs2292708
dbSNP Clinvar 		236708166 1996.77 C T PASS 0/1 161 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.21506 None None None None None None AGAP1|0.457547319|17.79%

AIM1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs11247919
dbSNP Clinvar 		26664968 659.77 C T PASS 0/1 64 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs4848197
dbSNP Clinvar 		112605302 40.41 C T PASS 1/1 3 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56250 0.56250 None None None None None None ANAPC1|0.14646446|43.53%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs2074840
dbSNP Clinvar 		242141719 1055.77 C T PASS 1/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.36491 None None None None None None ANO7|0.004152604|86.8%

APCDD1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 20 rs1980576
dbSNP Clinvar 		57045667 410.77 T C PASS 0/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.45986 0.45990 0.43048 None None None None None None APCDD1L|0.016982669|75.86%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 5 rs10078748
dbSNP Clinvar 		115341611 2331.77 G T PASS 1/1 85 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 5 rs258819
dbSNP Clinvar 		142593652 1326.77 C T PASS 1/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%

ARHGAP44
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs2072254
dbSNP Clinvar 		12852459 391.77 A G PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.10523 0.10520 0.06972 None None None None None None ARHGAP44|0.164173039|41.01%

ASGR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs61731746
dbSNP Clinvar 		7011225 222.77 T G PASS 0/1 48 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.11661 0.11660 0.11241 None None None None None None ASGR2|0.003649861|87.52%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 4 rs6848883
dbSNP Clinvar 		156787340 1293.77 G A PASS 1/1 41 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs1129406
dbSNP Clinvar 		51203371 49.77 C T PASS 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 13 rs7981616
dbSNP Clinvar 		25265103 262.77 A G PASS 0/1 36 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.20437 None None None None None None ATP12A|0.195110246|37.26%

ATP2A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs3179783
dbSNP Clinvar 		3840928 230.77 A G PASS 0/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.24189 None None None None None None ATP2A3|0.0615045|59.44%

ATP6V0A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs7135542
dbSNP Clinvar 		124229429 1219.77 T C PASS 0/1 139 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 18 rs319438
dbSNP Clinvar 		55364852 1581.77 A G PASS 1/1 56 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 19 rs3764606
dbSNP Clinvar 		1784944 196.8 A G PASS 1/1 7 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 13 rs4943266
dbSNP Clinvar 		31821992 546.77 T C PASS 1/1 19 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 8 rs11550509
dbSNP Clinvar 		22526559 234.77 G A PASS 0/1 16 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09884 0.09884 0.18878 None None None None None None BIN3|0.312765796|26.64%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs14309
dbSNP Clinvar 		6919093 2844.77 T C PASS 1/1 96 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 20 rs7271033
dbSNP Clinvar 		259969 207.77 G C PASS 0/1 28 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 19 rs8105198
dbSNP Clinvar 		48543862 1078.77 G A PASS 1/1 35 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78674 0.78670 0.22897 None None None None None None CABP5|0.074903985|56.31%

CAMSAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 9 rs35981196
dbSNP Clinvar 		138742077 500.77 C G PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12161 0.12160 0.18507 None None None None None None CAMSAP1|0.009681394|81.07%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs17596
dbSNP Clinvar 		223905532 2192.77 G A PASS 1/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59545 0.59540 0.33746 None None None None None None CAPN2|0.174674652|39.7%

CAPN8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs34588801
dbSNP Clinvar 		223722760 696.77 A C PASS 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.01897 0.01897 0.03439 None None None None None None CAPN8|0.042652474|64.89%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 5 rs7724759
dbSNP Clinvar 		96076487 3476.77 G A PASS 1/1 111 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17492 0.17490 0.24704 None None None None None None CAST|0.162925975|41.16%

CCDC178
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 18 rs147462915
dbSNP Clinvar 		30950014 102.77 C T PASS 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00500 None None None None None None CCDC178|0.012849829|78.59%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 18 rs1344011
dbSNP Clinvar 		52605188 266.77 C T PASS 0/1 31 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 14 rs1970912
dbSNP Clinvar 		91773568 914.77 T C PASS 1/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48043 0.48040 0.42060 None None None None None None CCDC88C|0.052356783|61.96%

CCM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 7 rs2289367
dbSNP Clinvar 		45113170 231.77 G A PASS 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.22736 None None None None None None CCM2|0.292416184|28.19%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 11 rs9344
dbSNP Clinvar 		69462910 724.77 G A PASS 0/1 56 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs3217805
dbSNP Clinvar 		4388084 1696.77 C G PASS 0/1 160 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.32631 None None None None None None CCND2|0.94794487|2.32%

CDC16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 13 rs8809
dbSNP Clinvar 		115030714 1312.77 T C PASS 0/1 100 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36941 0.36940 0.35422 None None None None None None CDC16|0.574269029|12.84%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 8 rs35792427
dbSNP Clinvar 		95161102 1748.77 G A PASS 0/1 146 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs1803531
dbSNP Clinvar 		22310824 99.03 T C PASS 1/1 4 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.89317 0.89320 0.05368 None None None None None None CELA3B|0.015617411|76.71%

CENPM
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 22 rs7293091
dbSNP Clinvar 		42341308 2216.77 A G PASS 1/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29593 0.29590 0.26503 None None None None None None CENPM|0.116261975|48.08%

CEP290
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs45465996
dbSNP Clinvar 		88505633 1463.77 A G PASS 0/1 129 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06889 0.06889 0.13844 None None None None None None CEP290|0.560411435|13.34%

CLEC2D
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs3764021
dbSNP Clinvar 		9833628 466.77 C T PASS 0/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.49831 None None None None None None CLEC2D|0.000737719|97.09%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 5 rs6877400
dbSNP Clinvar 		179996111 1391.77 C T PASS 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14647 None None None None None None CNOT6|0.652785136|9.99%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 13 rs3014960
dbSNP Clinvar 		46077381 76.77 G A PASS 0/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs2228550
dbSNP Clinvar 		32164206 3379.77 T G PASS 1/1 109 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 7 rs17135626
dbSNP Clinvar 		101194424 85.77 C T PASS 0/1 7 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29054 0.29050 0.35818 None None None None None None COL26A1|0.059520302|60.03%

COL4A4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs2228556
dbSNP Clinvar 		227892619 368.77 C T PASS 0/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

COL5A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 9 rs3827848
dbSNP Clinvar 		137707834 2738.77 G A PASS 1/1 98 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.14178 None None None None None None COL5A1|0.207487878|35.85%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 19 rs1559186
dbSNP Clinvar 		10106936 138.77 G C PASS 0/1 9 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 3 rs77968090
dbSNP Clinvar 		130128232 1195.77 G A PASS 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.02915 0.02915 0.03548 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs2296713
dbSNP Clinvar 		183909717 1362.77 G A PASS 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17232 0.17230 0.15762 None None None None None None COLGALT2|0.160790212|41.43%

COPE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 19 rs3177137
dbSNP Clinvar 		19023853 1272.77 T C PASS 0/1 103 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.44303 None None None None None None COPE|0.199133085|36.81%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 8 rs7818826
dbSNP Clinvar 		143959250 1087.77 T C PASS 0/1 91 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%

DENND3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 8 rs2289001
dbSNP Clinvar 		142170884 1477.77 C T PASS 1/1 51 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29313 0.29310 0.25015 None None None None None None DENND3|0.011564148|79.53%

DEPDC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 22 rs5998135
dbSNP Clinvar 		32205632 3474.77 A C PASS 1/1 109 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08946 0.08946 0.10847 None None None None None None DEPDC5|0.189227738|37.92%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs1136082
dbSNP Clinvar 		56335107 1820.77 A G PASS 1/1 60 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 10 rs1248634
dbSNP Clinvar 		79579222 105.77 G A PASS 0/1 8 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.22690 None None None None None None DLG5|0.1770919|39.42%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 6 rs1678729
dbSNP Clinvar 		38800209 912.77 T C PASS 0/1 77 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.27256 0.27260 0.21444 None None None None None None DNAH8|0.998961058|0.42%

DOCK9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 13 rs17709314
dbSNP Clinvar 		99479139 1877.77 T C PASS 0/1 173 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.04273 0.04273 0.08277 None None None None None None DOCK9|0.3175759|26.27%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 6 rs1016835
dbSNP Clinvar 		7576527 2125.77 G A PASS 1/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs2303606
dbSNP Clinvar 		71838597 724.77 C A PASS 0/1 58 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 6 rs535586
dbSNP Clinvar 		31860337 2309.77 T C PASS 0/1 210 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 11 rs4627097
dbSNP Clinvar 		125452313 551.77 A G PASS 0/1 49 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs8916
dbSNP Clinvar 		53433486 318.77 C T PASS 0/1 28 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 14 rs2075025
dbSNP Clinvar 		74196686 623.77 T C PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.60403 0.60400 0.44585 None None None None None None ELMSAN1|0.126163876|46.42%

FAM124B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs3738953
dbSNP Clinvar 		225244923 362.77 A G PASS 0/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.23083 0.23080 0.16579 None None None None None None FAM124B|0.019574426|74.39%

FAM182B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 20 rs75063166
dbSNP Clinvar 		25829342 325.77 T C VQSRTrancheSNP99.90to100.00 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FAM182B|0.001507273|92.73%

FAM3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 21 rs417708
dbSNP Clinvar 		42717662 1196.77 T C PASS 1/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 11 rs654573
dbSNP Clinvar 		64011441 1979.77 T C PASS 1/1 70 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 3 rs2362904
dbSNP Clinvar 		58112488 363.77 C T PASS 0/1 68 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs4664114
dbSNP Clinvar 		153378459 1440.77 T C PASS 0/1 152 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.34572 None None None None None None FMNL2|0.571016453|12.93%

GAB4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 22 rs4819925
dbSNP Clinvar 		17446991 591.77 C T PASS 1/1 20 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

GAREML
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs4665830
dbSNP Clinvar 		26399214 3087.77 G A PASS 1/1 103 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81170 0.81170 0.26456 None None None None None None GAREML|0.097511197|51.62%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 15 rs2958059
dbSNP Clinvar 		57918090 1779.77 A G PASS 1/1 56 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal X rs2296542
dbSNP Clinvar 		69652762 4208.77 A G PASS 1/1 136 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 5 rs816736
dbSNP Clinvar 		154271948 3257.77 G A PASS 1/1 112 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GIPC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 19 rs1127307
dbSNP Clinvar 		14589378 371.77 C T PASS 0/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.24820 0.24820 0.22851 None None None None None None GIPC1|0.183215507|38.63%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs17521008
dbSNP Clinvar 		53955850 508.77 C T PASS 0/1 54 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%

GRAMD1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 19 rs2290647
dbSNP Clinvar 		35506729 485.77 G A PASS 0/1 27 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.30418 None None None None None None GRAMD1A|0.103950782|50.42%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 11 rs2156634
dbSNP Clinvar 		120776001 863.77 G A PASS 0/1 118 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87800 0.87800 0.11927 None None None None None None GRIK4|0.59773792|11.84%

GTPBP10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 7 rs6972561
dbSNP Clinvar 		89982132 96.77 T C PASS 0/1 15 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.27356 0.27360 0.24543 None None None None None None GTPBP10|0.267953492|30.04%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 3 rs3772126
dbSNP Clinvar 		121354583 831.77 G A PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21825 0.21830 0.18768 None None None None None None HCLS1|0.153988686|42.41%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 1 rs4518892
dbSNP Clinvar 		236744712 136.77 C A PASS 0/1 35 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 14 rs8014577
dbSNP Clinvar 		73963383 975.77 T C PASS 1/1 31 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 3 rs59232004
dbSNP Clinvar 		124738107 4309.77 C T PASS 1/1 142 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 6 rs41554520
dbSNP Clinvar 		29911319 335.77 G T PASS 0/1 27 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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 6 rs2596493
dbSNP Clinvar 		31323945 943.77 A C PASS 1/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87380 0.87380 None None None None None None HLA-B|0.04113834|65.4%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 6 rs2308604
dbSNP Clinvar 		31238851 393.77 T C PASS 0/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26576 None None None None None None HLA-C|0.028815016|70%

HPS5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 11 rs1140047
dbSNP Clinvar 		18327684 442.77 G T PASS 0/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.28774 None None None None None None HPS5|0.115331572|48.24%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 8 rs4733961
dbSNP Clinvar 		38835666 503.77 T C PASS 1/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78195 0.78190 0.25965 None None None None None None HTRA4|0.040089057|65.75%

IRGQ
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 19 rs304725
dbSNP Clinvar 		44098963 106.03 C G PASS 1/1 4 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49321 0.49320 0.49638 None None None None None None IRGQ|0.009946279|80.88%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 5 rs1531545
dbSNP Clinvar 		52193287 706.77 C T PASS 0/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.63379 0.63380 0.43465 None None None None None None ITGA1|0.38715487|21.59%

ITGA11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 15 rs898591
dbSNP Clinvar 		68603625 222.78 C T PASS 1/1 8 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.98542 0.98540 0.01042 None None None None None None ITGA11|0.205733649|36.04%

ITGA2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 17 rs5910
dbSNP Clinvar 		42449789 1024.77 G A PASS 0/1 99 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39736 0.39740 0.38244 None None None None None None ITGA2B|0.174861798|39.66%

ITGA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs1143674
dbSNP Clinvar 		182374534 1848.77 A G PASS 1/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66154 0.66150 0.39954 None None None None None None ITGA4|0.417712401|19.71%
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 2 rs7562325
dbSNP Clinvar 		182399097 1882.77 T C PASS 1/1 61 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.65695 0.65690 0.39618 None None None None None None ITGA4|0.417712401|19.71%

ITGA5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 12 rs1249378
dbSNP Clinvar 		54799450 2030.77 A G PASS 1/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99561 0.99560 0.00515 None None None None None None ITGA5|0.422637925|19.47%

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 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 3 rs2306875
dbSNP Clinvar 		4712413 808.77 G A PASS 1/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.61402 0.61400 0.31915 None None None None None None ITPR1|0.673215803|9.28%

KATNB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal 16 rs78290465
dbSNP Clinvar 		57787906 625.77 C T PASS 0/1 67 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.04533 0.04533 0.00385 None None None None None None KATNB1|0.195202962|37.25%