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Genes:
A3GALT2, A4GALT, AATK, ABCA7, ABCB8, ABCC3, ABCC5, ABHD17A, AC079612.1, AC126614.1, ACADS, ACOT4, ACSM2A, ACSM2B, ACSM5, ADAMTS12, ADAMTS16, ADAMTS6, ADAMTSL1, ADAMTSL5, AFF1, AHRR, AKAP8, ALDH16A1, ALDH1A3, ALDH1B1, ALOX15, AMACR, AMER3, AMH, AMPD3, ANK1, ANKIB1, ANKRD18B, ANKRD24, ANKRD30B, ANKRD55, ANKRD9, AP001631.10, AP2A2, AP4E1, APEH, APIP, APOBEC3B, ARC, ARFIP2, ARHGAP1, ARHGEF39, ARID1A, ARID3A, ARID5A, ARL4D, ARMC5, ARRDC5, ASIC3, ASPM, ATF6B, ATHL1, ATP8B3, AXIN2, AZU1, B4GALNT4, BAI1, BAIAP3, BCL10, BIRC8, BMP6, BOD1L1, BRD9, BRPF1, BTN1A1, BTN3A3, C11orf35, C12orf49, C16orf3, C20orf96, C2CD4C, C3, C4A, C9orf38, C9orf72, CACTIN, CADPS2, CAMK1G, CAMSAP3, CAP2, CBWD1, CCBL1, CCDC152, CCDC154, CCDC182, CCDC94, CCIN, CCNL2, CCT5, CD151, CDCP2, CDH18, CDH6, CDH9, CDHR5, CDK12, CDK2, CDYL, CELSR3, CEP192, CEP72, CER1, CHAD, CHD8, CHRD, CHRNB2, CHTOP, CLK4, CLMN, CMYA5, CNOT4, CNTD2, CNTLN, CNTNAP3, COL11A2, COL5A3, COLEC12, CPNE5, CRABP2, CRYBG3, CTD-3193O13.9, CXCL16, CYP4F12, DAGLA, DAXX, DDA1, DDX25, DDX39B, DESI1, DESI2, DGKA, DHRS4, DNAH1, DNAH12, DNAH2, DNAH5, DNAH7, DNAI1, DNAJC1, DOCK3, DOCK8, DSP, DTNBP1, DUSP22, DUSP28, DUSP3, DUSP8, EFCAB11, ELANE, ENTHD1, ENTPD3, ENTPD4, EPHA2, EPS8L1, EPS8L2, ERMP1, ESYT3, EXOSC3, F2RL3, F5, FAM166B, FAM205A, FAM214B, FAM230A, FAM8A1, FAN1, FANCE, FASN, FBXO10, FBXO42, FBXW10, FBXW12, FCGR3A, FGFR3, FICD, FLII, FN1, FOLR1, FOXD4, FREM1, FRMPD1, FSTL3, FYCO1, GADD45B, GAGE12H, GARNL3, GAS8, GBA2, GBF1, GCM2, GGN, GHR, GLDC, GNAL, GOLGA4, GPR108, GPR113, GPR78, GPRC5A, GPX8, GRAMD1A, GRHPR, GRIK4, GRM5, GUF1, GUK1, HCG27, HCN2, HDGFRP2, HEATR1, HEG1, HIST1H1C, HIST1H2BA, HIST1H3C, HIST1H4C, HIVEP1, HMCN1, HMHA1, HNF1B, HRAS, HSD17B8, HSP90AB1, HSPA1A, HTR5A, IDE, IER3, IFNA1, IFNA4, IGSF10, IL33, IL7R, INSC, INSL4, IQGAP1, IRAK2, IRF7, IRX2, ITFG2, ITGAD, ITIH3, ITPR3, JAK2, JAK3, JSRP1, KANK1, KCNH3, KCNK6, KDM4C, KIAA0020, KIAA1161, KIAA1432, KIAA2026, KIF13A, KIF18A, KIF18B, KIF24, KIT, KLHDC2, KRT82, KRT84, KRTAP3-1, LAMA1, LAMA3, LAMB2, LDHD, LILRB2, LILRB5, LMBRD2, LPPR3, LRIF1, LRP1, LRRC14B, LRRC56, MADCAM1, MAFA, MAK, MAP3K5, MAST3, MBD3L3, MCAM, MED16, MED26, MEI1, MELK, METTL4, MFSD10, MICALL2, MISP, MKNK2, MMP3, MOCOS, MPND, MPP1, MPPE1, MRFAP1, MROH2B, MSH5, MST1, MTRR, MUC17, MUC2, MUC21, MUC5B, MUC6, MYBBP1A, MYBPC3, MYO9B, MYOM1, MYPN, NADK2, NBAS, NCOR1, NCR3, NDUFA10, NDUFS7, NEDD9, NF1, NFASC, NISCH, NKD2, NLRC5, NLRP5, NLRP6, NOL6, NOP56, NOTCH4, NPIPB15, NR1I3, NR4A1, NRP2, NRXN3, NSUN2, NUP133, NUP153, NXPH4, OCEL1, ODF3L2, OR1C1, OR1F1, OR2S2, OR2T8, OR4F17, OR8B8, ORMDL2, OSBP2, OTOG, PACS1, PAIP1, PAK1, PAK6, PALM, PALMD, PAN2, PAX5, PCDH12, PCDHGA10, PCDHGC3, PCNXL2, PCSK4, PDDC1, PDE6A, PDE6C, PDE8A, PEG3, PEX1, PEX11G, PHLDB3, PIDD, PIRT, PKD1, PKD1L2, PKMYT1, PKN2, PKP3, PLEKHG4B, PLEKHH3, PLEKHM2, PLIN4, PLK5, PNPLA2, POLR1E, POLR2A, POLR2L, POLRMT, PPP1R1A, PPP1R3G, PPP2R5C, PPP2R5D, PPRC1, PREX1, PROM2, PRPF4B, PRPF8, PRPSAP2, PRR14L, PRR25, PRSS3, PRSS57, PSMD13, PSME4, PTBP1, PTPRD, PTPRM, PTPRS, PVRL2, PZP, RANBP1, RAPGEF3, RASGRP4, RASSF7, RBM22, RDH5, RECK, RET, REXO1, RHOF, RHOT2, RIN1, RNF10, RNF126, RNF168, RNF212, RNH1, ROBO1, ROPN1L, RP11-302B13.5, RP11-683L23.1, RP11-998D10.1, RREB1, RYR2, SBNO2, SCGB1C1, SCN1B, SCYL3, SDHA, SEH1L, SELE, SEMA5A, SEMA6B, SET, SGCG, SH3YL1, SHB, SHC2, SIGIRR, SIGLEC1, SIGLEC11, SIRT5, SLC10A4, SLC12A7, SLC16A14, SLC1A1, SLC25A2, SLC25A42, SLC34A2, SLC39A14, SLC39A7, SLC41A1, SLC45A2, SLC5A10, SLC6A18, SLC6A19, SLC6A6, SLC9A3, SLC9A5, SMARCA4, SMCHD1, SMCO2, SOGA2, SPDYE2, SPEF2, SRCAP, STAP2, SUN1, SYNGAP1, SYVN1, TACC3, TAF10, TAF7, TAS1R2, TBC1D31, TCEB2, TCF12, TECPR1, TEK, TENC1, TFR2, THOC1, TICAM1, TIMM10B, TJP3, TLE2, TMEM214, TMEM220, TMEM261, TMEM63C, TMEM80, TMEM95, TNFAIP8L2, TNFRSF6B, TNFRSF8, TNFSF14, TNK1, TNPO2, TNR, TNXB, TOMM5, TPPP2, TRAV8-1, TRBV20OR9-2, TRIM38, TRIM49B, TRIM6, TRIP13, TRPM3, TSGA13, TSPAN4, TTC23L, TTC38, TTN, TXNDC2, TXNRD2, TYRP1, UBA7, UBAP2, UHRF2, USP14, USP29, USP6, VWA5A, WARS2, WDR18, WDR24, WDR60, WDR66, WDR81, WFS1, WIZ, WRNIP1, WSCD2, YES1, ZBED4, ZBTB5, ZCCHC7, ZFR2, ZFYVE1, ZFYVE28, ZIC2, ZNF106, ZNF304, ZNF44, ZNF518B, ZNF519, ZNF554, ZNF558, ZNF587B, ZNF626, ZNF644, ZNF691, ZNF804A, ZNF880, ZNRF4,

Genes at Omim

A4GALT, ABCA7, ACADS, ALDH1A3, AMACR, AMH, AMPD3, ANK1, AP4E1, ARID1A, ARMC5, ASPM, AXIN2, BCL10, C3, C4A, C9orf72, CCT5, CD151, CHD8, CHRNB2, COL11A2, DNAH5, DNAI1, DOCK8, DSP, DTNBP1, ELANE, EPHA2, EXOSC3, F5, FAN1, FANCE, FCGR3A, FGFR3, FN1, FOLR1, FREM1, FYCO1, GAS8, GBA2, GCM2, GHR, GLDC, GNAL, GRHPR, GUF1, HMCN1, HNF1B, HRAS, IFNA1, IL7R, IRF7, ITPR3, JAK2, JAK3, KANK1, KIT, LAMA1, LAMA3, LAMB2, MAK, MMP3, MOCOS, MTRR, MUC5B, MYBPC3, MYO9B, MYPN, NADK2, NBAS, NCR3, NDUFA10, NDUFS7, NF1, NOP56, NSUN2, OTOG, PACS1, PAX5, PDE6A, PDE6C, PEX1, PKD1, PNPLA2, PPP2R5D, PRPF8, RDH5, RET, RNF168, RNF212, RYR2, SCN1B, SDHA, SELE, SGCG, SLC1A1, SLC34A2, SLC39A14, SLC45A2, SLC6A19, SLC9A3, SMARCA4, SMCHD1, SRCAP, SYNGAP1, TCF12, TEK, TFR2, TICAM1, TNXB, TTN, TYRP1, WDR60, WDR81, WFS1, ZIC2, ZNF644,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ALDH1A3 Microphthalmia, isolated 8, 615113 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
BCL10 ?Immunodeficiency 37, 616098 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300, (3)
{Mesothelioma, somatic}, 156240 (3)
{Sezary syndrome, somatic}, (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (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)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
F5 Factor V deficiency, 227400 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FCGR3A Immunodeficiency 20, 615707 (3)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
FOLR1 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GCM2 Hypoparathyroidism, familial isolated, 146200 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
GLDC Glycine encephalopathy, 605899 (3)
GNAL Dystonia 25, 615073 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
Renal cysts and diabetes syndrome, 137920 (3)
{Renal cell carcinoma}, 144700 (3)
HRAS Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
{Bladder cancer, somatic}, 109800 (3)
{Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3)
{Spitz nevus or nevus spilus, somatic}, 137550 (3)
{Thyroid carcinoma, follicular, somatic}, 188470 (3)
IFNA1 Interferon, alpha, deficiency (1)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
JAK2 Erythrocytosis, somatic, 133100 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600800 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (3)
NDUFA10 ?Leigh syndrome, 256000 (3)
NDUFS7 Leigh syndrome, 256000 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
RDH5 Fundus albipunctatus, 136880 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
RNF168 RIDDLE syndrome, 611943 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SELE [Blood pressure regulation QTL], 145500 (2)
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
TCF12 Craniosynostosis 3, 615314 (3)
TEK Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
TYRP1 Albinism, oculocutaneous, type III, 203290 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)
ZNF644 Myopia 21, autosomal dominant, 614167 (3)

Genes at Clinical Genomics Database

A4GALT, ACADS, ALDH1A3, AMACR, AMH, AMPD3, ANK1, AP4E1, ARID1A, ARMC5, ASPM, AXIN2, BCL10, C3, C4A, CCT5, CD151, CHD8, CHRNB2, COL11A2, DNAH1, DNAH5, DNAI1, DOCK8, DSP, DTNBP1, ELANE, EPHA2, EXOSC3, F5, FAN1, FANCE, FCGR3A, FGFR3, FN1, FOLR1, FREM1, FYCO1, GAS8, GBA2, GCM2, GHR, GLDC, GNAL, GRHPR, GRIK4, HMCN1, HNF1B, HRAS, IL7R, IRF7, JAK2, JAK3, KANK1, KIT, LAMA1, LAMA3, LAMB2, LRP1, MAK, MTRR, MYBPC3, MYPN, NADK2, NBAS, NDUFA10, NDUFS7, NF1, NOP56, OTOG, PACS1, PAX5, PDE6A, PDE6C, PEX1, PKD1, PNPLA2, PPP2R5D, PRPF8, RDH5, RET, RNF168, RYR2, SCN1B, SDHA, SGCG, SLC1A1, SLC34A2, SLC41A1, SLC45A2, SLC6A19, SMARCA4, SMCHD1, SRCAP, SYNGAP1, TCF12, TEK, TFR2, TICAM1, TNXB, TTN, TYRP1, WDR60, WDR81, WFS1, ZIC2, ZNF644,
A4GALT Blood group, P system
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ALDH1A3 Microphthalmia, isolated 8
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AMH Persistent Mullerian duct syndrome, type I
AMPD3 Erythrocytic AMP deaminase deficiency
ANK1 Spherocytosis, hereditary 1
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
ARID1A Coffin-Siris syndrome 2
Mental retardation, autosomal dominant 14
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ASPM Microcephaly, primary autosomal recessive, 5
AXIN2 Oligodontia-colorectal cancer syndrome
BCL10 Immunodeficiency 37
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
C4A Blood group, Chido/Rodgers system
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD151 Raph blood group
CHD8 Autism, susceptibility to 18
CHRNB2 Epilepsy, nocturnal frontal lobe, type 3
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
DNAH1 Spermatogenic failure
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DTNBP1 Hermansky-Pudlak syndrome 7
ELANE Neutropenia, cyclic
Neutropenia, severe congenital 1, autosomal dominant
EPHA2 Cataract 6, multiple types
EXOSC3 Pontocerebellar hypoplasia type 1B
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FAN1 Interstitial nephritis, karyomegalic
FANCE Fanconi anemia, complementation group E
FCGR3A Immunodeficiency 20
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
FN1 Glomerulopathy with fibronectin deposits 2
FOLR1 Cerebral folate deficiency
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
FYCO1 Cataract, autosomal recessive congenital 2
GAS8 Ciliary dyskinesia, primary, 33
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GCM2 Hypoparathyroidism, familial isolated
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GLDC Glycine encephalopathy
GNAL Primary torsion dystonia
GRHPR Hyperoxaluria, primary, type II
GRIK4 Response to antidepressant treatment with citalopram
HMCN1 Macular degeneration, age-related, 1
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HRAS Congenital myopathy with excess of muscle spindles
Costello syndrome
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
IRF7 Immunodeficiency 39
JAK2 Thrombocythemia 3
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KANK1 Cerebral palsy, spastic quadriplegic, 2
KIT Gastrointestinal stromal tumor
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional, Herlitz type
Laryngoonychocutaneous syndrome
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LRP1 Schizophrenia
MAK Retinitis pigmentosa 62
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
MYPN Cardiomyopathy, familial restrictive, 4
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, dilated, 1KK
NADK2 2,4-dienoyl-CoA reductase deficiency
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFA10 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS7 Leigh syndrome
Mitochondrial complex I deficiency
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NOP56 Spinocerebellar ataxia 36
OTOG Deafness, autosomal recessive 18B
PACS1 Mental retardation, autosomal dominant 17
PAX5 Pre-B cell acute lymphoblastic leukemia
PDE6A Retinitis pigmentosa 43
PDE6C Cone dystrophy 4
PEX1 Heimler syndrome 1
PKD1 Polycystic kidney disease, adult type I
PNPLA2 Neutral lipid storage disease with myopathy
PPP2R5D Mental retardation, autosomal dominant 35
PRPF8 Retinitis pigmentosa 13
RDH5 Fundus albipunctatus
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
RNF168 RIDDLE syndrome
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC1A1 Dicarboxylic aminoaciduria
SLC34A2 Pulmonary alveolar microlithiasis
SLC41A1 Nephronophthisis-like ciliopathy
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
SMARCA4 Rhabdoid tumor predisposition syndrome 2
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
SRCAP Floating-Harbor syndrome
SYNGAP1 Mental retardation, autosomal dominant 5
TCF12 Craniosynostosis 3
TEK Venous malformations, multiple cutaneous and mucosal
TFR2 Hemochromatosis, type 3
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
TYRP1 Albinism, oculocutaneous, type III
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WFS1 Wolfram syndrome
ZIC2 Holoprosencephaly 5
ZNF644 Myopia 21, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 739
Number of Genes: 568

Export to: CSV

A3GALT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 33772682 47273.56 T C PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT -0.29 None None None None None None None

A4GALT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 22 . 43089379 686.51 T G PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AATK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 79094391 696.2 A G PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABCA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056493 49498.78 G C PASS 1/1 67 SYNONYMOUS_CODING LOW SILENT -1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1055192 11689.56 G A PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT -0.16 None None None None None None None

ABCB8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 150742412 96258.55 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 48762204 1220.63 C T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABCC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 183643358 316.35 C T PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABHD17A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1880951 44774.65 T C PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT -2.03 None None None None None None None

AC079612.1

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 23 recalibrated filtered postcgp gqfiltered 2 . 240500392 3590.35 C A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 240500603 26101.67 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AC126614.1

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 23 recalibrated filtered postcgp gqfiltered 12 . 57810500 220317.9 T C PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 1.29 None None None None None None None

ACADS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 121177227 800.63 T C PASS 0/1 65 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACOT4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 74060500 41906.4 G A PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480985 25007.76 G A PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480994 20811.76 C T PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20554263 2525.33 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20441019 2347.52 T C PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAMTS12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 rs760147804
dbSNP
33637794 51827.5 G A PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAMTS16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 5303501 11395.2 C T PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5140857 4221.66 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAMTS6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 64769450 591.15 G T PASS 0/1 9 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAMTSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 18775812 13361.48 C A PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT -0.18 None None None None None None None

ADAMTSL5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1507271 446.63 C T PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 5.66 None None None None None None None

AFF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 88036410 11497.61 T C PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AHRR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 rs778799504
dbSNP
413479 40623.66 G C PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 413476 19544.27 G A PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AKAP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 15469847 1580.64 G A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 5.82 None None None None None None None

ALDH16A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 49972201 9370.72 T A PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971820 43591.2 C T PASS 0/1 266 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALDH1A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 rs749061521
dbSNP
101427879 963.0 C T PASS 1/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALDH1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 38395943 200087.2 T C PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALOX15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536217 15191.3 A G,C PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4544941 1269.31 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AMACR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 33989413 131600.74 C T PASS 1/1 79 SYNONYMOUS_CODING LOW SILENT 2.43 None None rs2278008 3 not_specified 0 None

AMER3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 131520389 5281.26 T C PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs762042767
dbSNP
131520113 20314.64 C T PASS 1/1 219 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AMH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 2249478 20171.73 G T PASS 1/1 98 SYNONYMOUS_CODING LOW SILENT 1.77 None None None None None None None

AMPD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 10500217 55741.61 T C PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 8 . 41530402 11042.59 C T PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKIB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 92015951 4050.71 A G PASS 0/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD18B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 33541218 58.49 G C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT -0.70 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33567130 51.84 G A PASS 0/1 4 SYNONYMOUS_CODING LOW SILENT 5.18 None None None None None None None

ANKRD24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4217959 1631.48 A G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4217590 280.37 G A PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD30B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 14848821 13824.12 C T PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT -0.97 None None None None None None None

ANKRD55

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 55422790 19137.58 G C PASS 1/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 102973945 101130.2 G T PASS 1/1 112 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AP001631.10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 21 . 44579526 12372.9 A C PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AP2A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs10794358
dbSNP
985547 46537.72 C T PASS 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.46106 0.46110 0.44776 None None None None None None None

AP4E1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 51242056 24.34 G T PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None None

APEH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 49716355 289860.7 A G PASS 1/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None

APIP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 34916568 7953.11 C A PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None None

APOBEC3B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 22 . 39385580 1040.38 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 8 . 143695351 2175.11 G A PASS 1/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARFIP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 6498412 185623.74 G A PASS 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.74 None None None None None None None

ARHGAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 46700671 2549.21 T C PASS 1/1 37 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARHGEF39

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 35662613 553.63 G A PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 5.30 None None None None None None None

ARID1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 27100305 61988.17 T C PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARID3A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 971933 26970.3 AGGC GG... PASS 1/1 49 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs3746144
dbSNP
929543 108.48 C T PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.16274 0.16270 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs6510986
dbSNP
966693 33937.69 C T PASS 1/1 81 SYNONYMOUS_CODING LOW SILENT 0.71486 0.71490 0.18296 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs3826948
dbSNP
929678 3566.36 G A PASS 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.46086 0.46090 0.42350 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs141423769
dbSNP
971909 723.63 G C PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.00399 0.00399 0.00415 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs34967265
dbSNP
929741 393.23 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 0.16074 0.16070 0.11017 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs12608658
dbSNP
965043 81560.4 T C PASS 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.93890 0.93890 0.05167 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs1799595
dbSNP
929753 6652.93 A G PASS 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.88419 0.88420 0.12487 None None None None None None None

ARID5A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 97217357 2124.75 T G PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT -0.81 None None None None None None None

ARL4D

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 41477358 1001.3 G C PASS 1/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARMC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 31477595 3726.29 C G PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARRDC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4902742 48279.48 G A PASS 0/1 102 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ASIC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 150749704 2971.33 G A PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ASPM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 197057542 39130.76 A G PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 197094222 5472.29 C T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ATF6B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 32088803 3559.33 A C PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 2.61 None None None None None None None

ATHL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs12801980
dbSNP
293188 88983.48 T C PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.40076 0.40080 0.33854 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs10902120
dbSNP
290816 36000.13 A G PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.66653 0.66650 0.24873 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 19 . 1796167 18495.82 C T PASS 0/1 78 SYNONYMOUS_CODING LOW SILENT 1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1811604 19985.32 C T PASS 0/1 105 SYNONYMOUS_CODING LOW SILENT 2.00 None None None None None None None

AXIN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 63545691 22897.28 C T PASS 0/1 104 SYNONYMOUS_CODING LOW SILENT -0.22 None None None None None None None

AZU1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 rs595844
dbSNP
830854 42088.11 T C PASS 0/1 367 SYNONYMOUS_CODING LOW SILENT 0.66693 0.66690 0.34922 None None None None None None None

B4GALNT4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs35475866
dbSNP
372700 5315.91 G C PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.33067 0.33070 0.29410 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs1134699
dbSNP
379598 3936.14 A G PASS 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.49860 0.49860 0.42043 None None None None None None None

BAI1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 8 . 143561151 21918.53 A G PASS 1/1 77 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BAIAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 1397346 347.4 C A,* PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BCL10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 85736419 987.59 C A PASS 0/1 66 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BIRC8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 53793517 2932.81 A C PASS 0/1 155 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 53793448 3619.29 C T PASS 0/1 201 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BMP6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 rs768025593
dbSNP
7727698 848.23 G A PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BOD1L1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 13602794 36445.27 G C PASS 0/1 58 SYNONYMOUS_CODING LOW SILENT -0.96 None None None None None None None

BRD9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 892731 599.38 C T PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BRPF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 9787542 3955.79 A C PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BTN1A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 26505175 88823.73 C A PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BTN3A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 26445981 14246.39 C T PASS 0/1 195 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C11orf35

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 rs7938269
dbSNP
556857 13275.47 G C PASS 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.87820 0.87820 0.10434 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs7129811
dbSNP
557989 24913.25 C T PASS 0/1 79 SYNONYMOUS_CODING LOW SILENT 0.47185 0.47180 0.44400 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs28406183
dbSNP
556521 6744.79 C G PASS 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.84605 0.84600 0.13767 None None None None None None None

C12orf49

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 rs747392112
dbSNP
117158125 36418.82 G A PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C16orf3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095697 23.63 G A PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095484 239.34 A G PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None None