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Genes:
AARS2, ABCF1, ABHD16A, ABT1, ACAT2, ADGB, AGER, AHI1, AIF1, AIM1, AK9, AKAP12, AKAP7, AL078585.1, AL583828.1, ALDH5A1, ALDH8A1, ANKRD6, ANKS1A, APOBEC2, APOM, ARHGAP18, ARID1B, ARMC12, ARMC2, ASCC3, ATXN1, B3GAT2, BACH2, BAI3, BCLAF1, BEND6, BMP6, BRD2, BTN1A1, BTNL2, C4A, C4B, C6orf1, C6orf10, C6orf100, C6orf118, C6orf120, C6orf132, C6orf141, C6orf15, C6orf164, C6orf211, C6orf229, C6orf47, C6orf89, CAGE1, CAP2, CAPN11, CCDC170, CCHCR1, CCND3, CCR6, CD109, CD2AP, CDC5L, CDKAL1, CDKN1A, CDSN, CENPQ, CENPW, CEP57L1, CFB, CLDN20, CLIC5, CLPSL1, CLPSL2, CNKSR3, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, CPNE5, CRIP3, CRISP3, CSNK2B, CTAGE9, CTGF, CUL7, CUL9, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDR1, DDX39B, DDX43, DEF6, DEK, DNAH8, DPCR1, DSE, DSP, DST, DUSP22, DXO, ECT2L, EDN1, EHMT2, ELOVL2, ELOVL4, ENPP1, ENPP3, ENPP4, ENPP5, EPHA7, EPM2A, ERMARD, ESR1, EXOC2, EYA4, EYS, F13A1, FAM120B, FAM135A, FAM184A, FAM217A, FAM26D, FAM26F, FAM65B, FAM83B, FANCE, FAXC, FBXO5, FGD2, FHL5, FIG4, FNDC1, FOXF2, FOXP4, FOXQ1, FRK, FRMD1, FUCA2, FUT9, GABBR1, GABRR1, GABRR2, GCM2, GCNT2, GFRAL, GJA1, GJB7, GJE1, GLO1, GLP1R, GLYATL3, GMDS, GMPR, GNL1, GPANK1, GPLD1, GPR111, GPR115, GPR116, GPR126, GPR31, GPRC6A, GPSM3, GRM4, GSTA2, GSTA5, GTF2H4, GTPBP2, GUCA1B, HACE1, HBS1L, HCG27, HCRTR2, HDGFL1, HECA, HFE, HINT3, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H1E, HIST1H1T, HIST1H2AA, HIST1H2AB, HIST1H2AL, HIST1H2BF, HIST1H2BL, HIST1H3C, HIST1H3I, HIST1H3J, HIST1H4B, HIST1H4C, HIST1H4H, HIST1H4J, HIST1H4K, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-G, HMGA1, HMGN4, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HUS1B, IBTK, IER3, IFNGR1, IGF2R, IL17F, IL20RA, IP6K3, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KCNK16, KCNK17, KCNQ5, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA1244, KIAA1919, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHL31, KPNA5, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LMBRD1, LPA, LRFN2, LRP11, LRRC1, LRRC16A, LTA, LTV1, LY6G5B, LY6G6D, LY6G6F, MAD2L1BP, MAK, MAN1A1, MANEA, MAP3K4, MAP3K5, MAP7, MAPK13, MB21D1, MCCD1, MCM9, MCUR1, MDGA1, MDN1, MEP1A, METTL24, MICA, MICAL1, MICB, MLIP, MLLT4, MLN, MMS22L, MOG, MRPL14, MRPL18, MRS2, MSH5, MTHFD1L, MTO1, MTRF1L, MUC21, MUC22, MUT, MYB, MYCT1, MYLIP, NCR2, NCR3, NDUFAF4, NEDD9, NFKBIL1, NHLRC1, NHSL1, NKAIN2, NKAPL, NOTCH4, NOX3, NQO2, NT5E, NUP153, OARD1, OGFRL1, OOEP, OPRM1, OR10C1, OR11A1, OR12D1, OR12D2, OR12D3, OR14J1, OR2B2, OR2B6, OR2H2, OR2J1, OR2J2, OR2J3, OR5V1, PARK2, PDCD2, PDE10A, PERP, PEX3, PEX6, PGBD1, PGC, PHF1, PHF10, PHIP, PI16, PKHD1, PLA2G7, PLEKHG1, PLG, PNLDC1, PNPLA1, PNRC1, POLH, POM121L2, POU3F2, POU5F1, PPARD, PPP1R14C, PPP1R18, PPP1R3G, PPT2, PREP, PRICKLE4, PRIM2, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRSS16, PRSS35, PSMB1, PSMB8, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTPRK, PXDC1, PXT1, QRSL1, RAB44, RAET1E, RANBP9, RARS2, REV3L, RFX6, RGS17, RHAG, RIMS1, RING1, RIOK1, RIPK1, RMND1, RNASET2, RNF217, RNF8, RNGTT, ROS1, RP1-139D8.6, RP11-257K9.8, RPL10A, RPL7L1, RPP21, RPP40, RPS6KA2, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RUNX2, RXRB, SAMD5, SASH1, SBP1, SCAND3, SCGN, SCML4, SDIM1, SEC63, SENP6, SERAC1, SERPINB6, SESN1, SFT2D1, SFTA2, SHPRH, SIRT5, SKIV2L, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC35B3, SLC39A7, SLC44A4, SMOC2, SMPD2, SMPDL3A, SNAP91, SNRNP48, SOBP, SOD2, SPATS1, SRPK1, STK38, STXBP5, SUMO4, SYCP2L, SYNE1, SYNGAP1, SYNJ2, SYTL3, T, TAAR2, TAAR5, TAAR6, TAAR9, TAF8, TAP1, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBCC, TBP, TCF19, TCP10, TCP10L2, TCTE1, TCTE3, TDP2, TDRD6, TFB1M, TFEB, THBS2, TIAM2, TINAG, TJAP1, TMEM151B, TMEM170B, TMEM200A, TMEM244, TMEM63B, TNXB, TPBG, TPMT, TRAF3IP2, TRDN, TREML2, TREML4, TRIM10, TRIM15, TRIM31, TRIM38, TRIM39, TSPYL1, TSPYL4, TTBK1, TTK, TTLL2, TUBB2A, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBR2, UFL1, ULBP1, ULBP2, ULBP3, UNC5CL, UNC93A, USP45, USP49, UTRN, VARS, VARS2, VNN1, VNN2, VPS52, WDR27, WDR46, WISP3, WRNIP1, WTAP, XPO5, YIPF3, ZBTB12, ZBTB2, ZBTB22, ZBTB9, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF184, ZNF292, ZNF311, ZNF318, ZNF322, ZNF76, ZSCAN12, ZSCAN31, ZUFSP,

Genes at Omim

AARS2, ACAT2, AHI1, ALDH5A1, ARID1B, ATXN1, BTNL2, C4A, C4B, CD2AP, CDSN, CFB, CLIC5, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DEK, DSE, DSP, DST, EDN1, ELOVL4, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FANCE, FIG4, GCM2, GCNT2, GJA1, GTPBP2, GUCA1B, HACE1, HFE, HIST1H1E, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-G, HMGA1, IFNGR1, IGF2R, IL17F, IRF4, ITPR3, IYD, KCNQ5, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, LTA, MAK, MCM9, MOG, MSH5, MTO1, MUT, MYB, NCR3, NDUFAF4, NFKBIL1, NHLRC1, NQO2, NT5E, OR2J3, PDE10A, PEX3, PEX6, PHIP, PLA2G7, PLG, PNPLA1, POLH, PRPH2, PSMB8, PSMB9, RARS2, RFX6, RHAG, RIMS1, RIPK1, RMND1, RNASET2, RSPH3, RSPH4A, RSPH9, RUNX2, SASH1, SEC63, SERAC1, SERPINB6, SKIV2L, SLC17A3, SLC26A8, SLC44A4, SMOC2, SOBP, SOD2, SUMO4, SYNE1, SYNGAP1, T, TAP1, TAP2, TAPBP, TBC1D7, TBP, TDP2, THBS2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TULP1, VARS, VARS2, VNN1, WISP3,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
AHI1 Joubert syndrome 3, 608629 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C4B C4B deficiency, 614379 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CDSN Hypotrichosis 2, 146520 (3)
Peeling skin syndrome 1, 270300 (3)
CFB {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3)
{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3)
?Complement factor B deficiency, 615561 (3)
CLIC5 ?Deafness, autosomal recessive 103, 616042 (3)
COL10A1 Metaphyseal chondrodysplasia, Schmid type, 156500 (3)
COL11A2 Fibrochondrogenesis 2, 614524 (3)
Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Otospondylomegaepiphyseal dysplasia, autosomal dominant, 184840 (3)
Otospondylomegaepiphyseal dysplasia, autosomal recessive, 215150 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL9A1 ?Epiphyseal dysplasia, multiple, 6, 614135 (3)
Stickler syndrome, type IV, 614134 (3)
CUL7 3-M syndrome 1, 273750 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DCDC2 ?Deafness, autosomal recessive 66, 610212 (3)
Nephronophthisis 19, 616217 (3)
Sclerosing cholangitis, neonatal, 617394 (3)
DEK Leukemia, acute nonlymphocytic (2)
DSE Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (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)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
EDN1 {High density lipoprotein cholesterol level QTL 7} (3)
Auriculocondylar syndrome 3, 615706 (3)
Question mark ears, isolated, 612798 (3)
ELOVL4 Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)
Spinocerebellar ataxia 34, 133190 (3)
Stargardt disease 3, 600110 (3)
ENPP1 Arterial calcification, generalized, of infancy, 1, 208000 (3)
Cole disease, 615522 (3)
Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
{Obesity, susceptibility to}, 601665 (3)
{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3)
EPM2A Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
ERMARD ?Periventricular nodular heterotopia 6, 615544 (3)
ESR1 {HDL response to hormone replacement, augmented} (3)
Breast cancer, somatic, 114480 (3)
{Migraine, susceptibility to}, 157300 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Estrogen resistance, 615363 (3)
{Atherosclerosis, susceptibility to} (3)
EYA4 Deafness, autosomal dominant 10, 601316 (3)
?Cardiomyopathy, dilated, 1J, 605362 (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FIG4 Amyotrophic lateral sclerosis 11, 612577 (3)
Charcot-Marie-Tooth disease, type 4J, 611228 (3)
?Polymicrogyria, bilateral temporooccipital, 612691 (3)
Yunis-Varon syndrome, 216340 (3)
GCM2 Hyperparathyroidism 4, 617343 (3)
Hypoparathyroidism, familial isolated, 146200 (3)
GCNT2 Adult i phenotype without cataract, 110800 (3)
Cataract 13 with adult i phenotype, 116700 (3)
[Blood group, Ii], 110800 (3)
GJA1 Atrioventricular septal defect 3, 600309 (3)
Hypoplastic left heart syndrome 1, 241550 (3)
Craniometaphyseal dysplasia, autosomal recessive, 218400 (3)
Erythrokeratodermia variabilis et progressiva 3, 617525 (3)
Oculodentodigital dysplasia, 164200 (3)
Oculodentodigital dysplasia, autosomal recessive, 257850 (3)
Palmoplantar keratoderma with congenital alopecia, 104100 (3)
Syndactyly, type III, 186100 (3)
GTPBP2 Jaberi-Elahi syndrome, 617988 (3)
GUCA1B Retinitis pigmentosa 48, 613827 (3)
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)
HFE Hemochromatosis, 235200 (3)
{Microvascular complications of diabetes 7}, 612635 (3)
{Porphyria cutanea tarda, susceptibility to}, 176100 (3)
{Porphyria variegata, susceptibility to}, 176200 (3)
[Transferrin serum level QTL2], 614193 (3)
{Alzheimer disease, susceptibility to}, 104300 (3)
HIST1H1E Rahman syndrome, 617537 (3)
HIVEP2 Mental retardation, autosomal dominant 43, 616977 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DPB1 {Beryllium disease, chronic, susceptibility to} (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HLA-G {Asthma, susceptibility to}, 600807 (2)
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
IFNGR1 {H. pylori infection, susceptibility to}, 600263 (3)
{Hepatitis B virus infection, susceptibility to}, 610424 (3)
Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)
{Tuberculosis infection, protection against}, 607948 (3)
{Tuberculosis, susceptibility to}, 607948 (3)
IGF2R Hepatocellular carcinoma, somatic, 114550 (3)
IL17F ?Candidiasis, familial, 6, autosomal dominant, 613956 (3)
IRF4 [Skin/hair/eye pigmentation, variation in, 8], 611724 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
IYD Thyroid dyshormonogenesis 4, 274800 (3)
KCNQ5 Mental retardation, autosomal dominant 46, 617601 (3)
KHDC3L Hydatidiform mole, recurrent, 2, 614293 (3)
LAMA2 Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LAMA4 Cardiomyopathy, dilated, 1JJ, 615235 (3)
LCA5 Leber congenital amaurosis 5, 604537 (3)
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
LPA [LPA deficiency, congenital] (3)
{Coronary artery disease, susceptibility to} (1)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MCM9 Ovarian dysgenesis 4, 616185 (3)
MOG ?Narcolepsy 7, 614250 (3)
MSH5 ?Premature ovarian failure 13, 617442 (3)
MTO1 Combined oxidative phosphorylation deficiency 10, 614702 (3)
MUT Methylmalonic aciduria, mut(0) type, 251000 (3)
MYB {T-cell acute lymphoblastic leukemia} (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (3)
NDUFAF4 Mitochondrial complex I deficiency, nuclear type 15, 618237 (3)
NFKBIL1 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NQO2 {?Breast cancer susceptibility}, 114480 (1)
NT5E Calcification of joints and arteries, 211800 (3)
OR2J3 [C3HEX, ability to smell], 615082 (3)
PDE10A Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)
Striatal degeneration, autosomal dominant, 616922 (3)
PEX3 Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)
?Peroxisome biogenesis disorder 10B, 617370 (3)
PEX6 Heimler syndrome 2, 616617 (3)
Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)
Peroxisome biogenesis disorder 4B, 614863 (3)
PHIP Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3)
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
{Asthma, susceptibility to}, 600807 (3)
{Atopy, susceptibility to}, 147050 (3)
PLG Dysplasminogenemia, 217090 (3)
Plasminogen deficiency, type I, 217090 (3)
PNPLA1 Ichthyosis, congenital, autosomal recessive 10, 615024 (3)
POLH Xeroderma pigmentosum, variant type, 278750 (3)
PRPH2 Choroidal dystrophy, central areolar 2, 613105 (3)
Leber congenital amaurosis 18, 608133 (3)
Macular dystrophy, patterned, 1, 169150 (3)
Macular dystrophy, vitelliform, 3, 608161 (3)
Retinitis pigmentosa 7 and digenic form, 608133 (3)
Retinitis punctata albescens, 136880 (3)
PSMB8 Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 (3)
PSMB9 ?Proteasome-associated autoinflammatory syndrome 3, digenic, 617591 (3)
RARS2 Pontocerebellar hypoplasia, type 6, 611523 (3)
RFX6 Mitchell-Riley syndrome, 615710 (3)
RHAG Anemia, hemolytic, Rh-null, regulator type, 268150 (3)
Overhydrated hereditary stomatocytosis, 185000 (3)
RIMS1 Cone-rod dystrophy 7, 603649 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
RMND1 Combined oxidative phosphorylation deficiency 11, 614922 (3)
RNASET2 Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
RSPH3 Ciliary dyskinesia, primary, 32, 616481 (3)
RSPH4A Ciliary dyskinesia, primary, 11, 612649 (3)
RSPH9 Ciliary dyskinesia, primary, 12, 612650 (3)
RUNX2 Cleidocranial dysplasia, 119600 (3)
Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3)
Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3)
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3)
SASH1 Dyschromatosis universalis hereditaria 1, 127500 (3)
?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, 618373 (3)
SEC63 Polycystic liver disease 2, 617004 (3)
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SKIV2L Trichohepatoenteric syndrome 2, 614602 (3)
SLC17A3 {Gout susceptibility 4}, 612671 (3)
[Uric acid concentration, serum, QTL4], 612671 (3)
SLC26A8 Spermatogenic failure 3, 606766 (3)
SLC44A4 ?Deafness, autosomal dominant 72, 617606 (3)
SMOC2 Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)
SOBP Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)
SOD2 {Microvascular complications of diabetes 6}, 612634 (3)
SUMO4 {Diabetes mellitus, insulin-dependent, 5}, 600320 (3)
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)
Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
T {Neural tube defects, susceptibility to}, 182940 (3)
Sacral agenesis with vertebral anomalies, 615709 (3)
TAP1 Bare lymphocyte syndrome, type I, 604571 (3)
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
THBS2 {Lumbar disc herniation, susceptibility to}, 603932 (3)
TNXB Ehlers-Danlos syndrome, classic-like, 1 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TPMT {Thiopurines, poor metabolism of, 1}, 610460 (3)
TRAF3IP2 {Psoriasis susceptibility 13}, 614070 (3)
?Candidiasis, familial, 8, 615527 (3)
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
TUBB2A Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)
TULP1 Leber congenital amaurosis 15, 613843 (3)
Retinitis pigmentosa 14, 600132 (3)
VARS Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VNN1 [High density lipoprotein cholesterol level QTL 8] (3)
WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)

Genes at Clinical Genomics Database

AARS2, AHI1, ALDH5A1, ARID1B, ATXN1, C4A, C4B, CD2AP, CDSN, CFB, CLIC5, COL10A1, COL11A2, COL12A1, COL9A1, CUL7, CYP21A2, DCDC2, DSE, DSP, DST, EDN1, ELOVL4, ENPP1, EPM2A, ERMARD, ESR1, EYA4, EYS, F13A1, FAM65B, FANCE, FIG4, GCM2, GCNT2, GJA1, GUCA1B, HACE1, HFE, HLA-A, HLA-B, HSPA1L, IFNGR1, IL17F, IRF4, IYD, KHDC3L, LAMA2, LAMA4, LCA5, LMBRD1, LPA, MAK, MCM9, MOG, MTO1, MUT, NDUFAF4, NHLRC1, NT5E, PARK2, PDE10A, PEX3, PEX6, PKHD1, PLA2G7, PLG, PNPLA1, POLH, PRPH2, PSMB8, RARS2, RFX6, RHAG, RIMS1, RMND1, RNASET2, RSPH3, RSPH4A, RSPH9, RUNX2, SEC63, SERAC1, SERPINB6, SKIV2L, SLC26A8, SMOC2, SOBP, SYNE1, SYNGAP1, T, TAP1, TAP2, TAPBP, TBC1D7, TBP, TDP2, TNXB, TPMT, TRAF3IP2, TRDN, TSPYL1, TUBB2A, TULP1, VARS2, WISP3,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
AHI1 Joubert syndrome 3
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
ATXN1 Spinocerebellar ataxia 1
C4A Blood group, Chido/Rodgers system
C4B Complement component 4B deficiency
CD2AP Focal segmental glomerulosclerosis 3
CDSN Hypotrichosis 2
Peeling skin syndrome 1
CFB Hemolytic uremic syndrome, atypical
Complement factor B deficiency
CLIC5 Deafness, autosomal recessive 103
COL10A1 Metaphyseal chondrodysplasia, Schmid type
COL11A2 Deafness, autosomal dominant 13
Deafness, autosomal recessive 53
Fibrochondrogenesis 2
Weissenbacher-Zweymuller syndrome
Otospondylomegaepiphyseal dysplasia
Stickler syndrome, type III
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL9A1 Stickler syndrome, type IV
CUL7 Three M syndrome 1
Yakut short stature syndrome
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
DCDC2 Deafness, autosomal recessive 66
DSE Ehlers-Danlos syndrome, musculocontractural type 2
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DST Neuropathy, hereditary sensory and autonomic, type VI
EDN1 Dominant Isolated Question-Mark Ears
Auriculocondylar Syndrome 3
ELOVL4 Icthyosis, spastic quadriplegia, and mental retardation
Spinocerebellar ataxia 34
Startgardt disease 3
ENPP1 Hypophosphatemic rickets, autosomal recessive 2
Arterial calcification, generalized, of infancy, 1
EPM2A Epilepsy, progressive myoclonic 2A (Lafora)
ERMARD Periventricular nodular heterotopia 6
ESR1 Estrogen resistance
EYA4 Cardiomyopathy, dilated, 1J
EYS Retitinis pigmentosa 25
F13A1 Factor XIIIA deficiency
FAM65B Deafness, autosomal recessive 104
FANCE Fanconi anemia, complementation group E
FIG4 Amyotrophic lateral sclerosis 11
Charcot-Marie Tooth disease, autosomal recessive, type 4J
Polymicrogyria, bilateral occipital
Yunis-Varon syndrome
GCM2 Hypoparathyroidism, familial isolated
GCNT2 Blood group, Ii
Adult i phenotype without cataract
Cataract 13 with adult i phenotype
GJA1 Oculodentodigital dysplasia, autosomal dominant
GUCA1B Retinitis pigmentosa 48
HACE1 Spastic paraplegia and psychomotor retardation with or without seizures
HFE Hemochromatosis
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HSPA1L Abacavir, susceptibility to toxicity with
IFNGR1 Immunodeficiency 27B
Immunodeficiency 27A
IL17F Candidiasis, familial, 6
IRF4 Skin/hair/eye pigmentation, variation in, 8
IYD Thyroid dyshormonogenesis 4
KHDC3L Hydatidiform mole, recurrent, 2
LAMA2 Muscular dystrophy, congenital merosin-deficient, 1A
Schizophrenia
LAMA4 Cardiomyopathy, dilated, 1JJ
LCA5 Leber congenital amaurosis 5
LMBRD1 Methylmalonic aciduria and homocystinuria, cblF type
LPA Lipoprotein A deficiency, congenital
MAK Retinitis pigmentosa 62
MCM9 Ovarian dysgenesis 4
MOG Narcolepsy 7
MTO1 Combined oxidative phosphorylation deficiency 10
MUT Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
NDUFAF4 Mitochondrial complex I deficiency
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NT5E Calcification of joints and arteries
PARK2 Parkinson disease 2, autosomal recessive juvenile
PDE10A Striatal degeneration, autosomal dominant 2
Infantile-onset dyskinesia
PEX3 Peroxisome biogenesis factor disorder 3
Zellwegger syndrome complementation group G
PEX6 Heimler syndrome 2
PKHD1 Polycystic kidney disease, autosomal recessive
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PLG Plasminogen deficiency, type I
PNPLA1 Ichthyosis, congenital, autosomal recessive 10
POLH Xeroderma pigmentosum, variant type
PRPH2 Choriodal dystrophy, central areolar 2
Retinitis punctata albescens
Macular dystrophy, vitelliform 3
Macula dystrophy, patterned 1
Retinitis pigmentosa 7
PSMB8 Nakajo-Nishimura syndrome
Autoinflammation, lipodystrophy, and dermatosis syndrome
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
Joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome
RARS2 Pontocerebellar hypoplasia, type 6
RFX6 Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula
Martinez-Frias syndrome
Mitchell-Riley syndrome
RHAG Overhydrated hereditary stomatocytosis
Anemia, hemolytic, Rh-null, regulator type
Anemia, hemolytic,Rh-Mod type
RHAG blood group
RIMS1 Cone-rod dystrophy 7
RMND1 Combined oxidative phosphorylation deficiency 11
RNASET2 Leukoencephalopathy, cystic, without megalencephaly
RSPH3 Ciliary dyskinesia, primary, 32
RSPH4A Ciliary dyskinesia, primary, 11
RSPH9 Ciliary dyskinesia, primary, 12
RUNX2 Cleidocranial dysplasia
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
SEC63 Polycystic liver disease
SERAC1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERPINB6 Deafness, autosomal recessive 91
SKIV2L Trichohepatoenteric syndrome 2
SLC26A8 Spermatogenic failure 3
SMOC2 Dentin dysplasia, type I
SOBP Mental retardation, anterior maxillary protrusion, and strabismus
SYNE1 Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1 Mental retardation, autosomal dominant 5
T Chordoma
TAP1 Bare lymphocyte syndrome, type I
TAP2 Bare lymphocyte syndrome, type I
TAPBP Bare lymphocyte syndrome, type I
TBC1D7 Macrocephaly/megalencephaly syndrome, autosomal recessive
TBP Spinocerebellar ataxia 17
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TNXB Vesicoureteral reflux 8
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
TPMT Thiopurine S-methyltransferase deficiency
TRAF3IP2 Candidiasis, familial 8
TRDN Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome
46, XY disorder of sex development
TUBB2A Cortical dysplasia, complex, with other brain malformations 5
TULP1 Leber congenital amaurosis 15
Retinitis pigmentosa 14
VARS2 Combined oxidative phosphorylation deficiency 20
WISP3 Spondyloepiphyseal dysplasia tarda with progressive arthropathy
Arthropathy, progressive pseudorheumatoid, of childhood

Genes at HGMD

Summary

Number of Variants: 5124
Number of Genes: 566

Export to: CSV

AARS2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs498512
dbSNP Clinvar
44269193 2505.77 C T PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.58267 0.58270 0.32101 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs324136
dbSNP Clinvar
44275011 5473.77 T C PASS 1/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.88898 0.88900 0.11341 0.96 0.00 -0.56 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs325008
dbSNP Clinvar
44268371 4517.77 T C PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.86941 0.86940 0.12886 None None None None None None TMEM151B|0.178433912|39.22%,AARS2|0.089485788|53.33%

ABCF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 30558477 820.73 GAG GAAG PASS 1/1 22 None None None None None None None None None ABCF1|0.199313589|36.78%

ABHD16A

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1475865
dbSNP Clinvar
31657413 5745.77 T C PASS 1/1 151 SYNONYMOUS_CODING LOW None 0.81609 0.81610 0.27590 None None None None None None ABHD16A|0.218787308|34.5%

ABT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3800302
dbSNP Clinvar
26597333 3614.77 A G PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.70867 0.70870 0.35268 None None None None None None ABT1|0.032342215|68.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3800303
dbSNP Clinvar
26598188 1532.77 A G PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.51617 0.51620 0.43918 None None None None None None ABT1|0.032342215|68.44%

ACAT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3464
dbSNP Clinvar
160198359 874.77 C T PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.26118 0.26120 0.17992 None None None None None None ACAT2|0.090493467|53.12%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs25683
dbSNP Clinvar
160196343 685.77 A G PASS 0/1 46 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36522 0.36520 0.45433 0.04 0.82 3.27 None None None None None None ACAT2|0.090493467|53.12%

ADGB

Omim - GeneCards - NCBI
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View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9647637
dbSNP Clinvar
147067093 681.77 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.16054 0.16050 0.21485 None None None None None None ADGB|0.008962502|81.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs259391
dbSNP Clinvar
147106841 899.77 A G PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45749 None None None None None None ADGB|0.008962502|81.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9497606
dbSNP Clinvar
146993445 761.77 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.28415 0.28410 0.25975 0.36 0.04 -0.67 None None None None None None ADGB|0.008962502|81.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs259370
dbSNP Clinvar
147136244 765.77 A G PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.73143 0.73140 0.34626 1.00 0.00 -1.40 None None None None None None ADGB|0.008962502|81.7%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1052444
dbSNP Clinvar
147136212 682.77 A T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.40435 0.40440 0.28922 0.05 0.99 2.24 None None None None None None ADGB|0.008962502|81.7%

AGER

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1800684
dbSNP Clinvar
32151994 1780.77 A T PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.96426 0.96430 0.09633 None None None None None None AGER|0.358118947|23.58%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2070600
dbSNP Clinvar
32151443 3369.77 C T PASS 0/1 240 NON_SYNONYMOUS_CODING MODERATE None 0.07248 0.07248 0.03488 0.22 1.00 5.09 None None None None None None RNF5|0.294853718|28.05%,AGER|0.358118947|23.58%

AHI1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2273761
dbSNP Clinvar
135754208 253.77 A G PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.03494 0.03494 0.02536 None None None None None None AHI1|0.23811055|32.57%

AIF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs547085846
dbSNP Clinvar
31584146 1710.77 G A PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None AIF1|0.188520548|38.01%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2736182
dbSNP Clinvar
31583312 2294.77 G A PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.11781 0.11780 0.07927 0.09 0.29 2.24 None None None None None None AIF1|0.188520548|38.01%

AIM1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs567558913
dbSNP Clinvar
106960531 1051.77 G T PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.00140 0.00140 None None None None None None AIM1|0.106090951|49.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs11152999
dbSNP Clinvar
106960447 1466.77 G A PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.25439 0.25440 0.13368 None None None None None None AIM1|0.106090951|49.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs769073910
dbSNP Clinvar
106968913 1552.77 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.45 5.65 0.02 0.44851 T None None None None AIM1|0.106090951|49.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs783396
dbSNP Clinvar
106987370 2306.77 A C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.93590 0.93590 0.07135 0.14 0.01 1.33 None None None None None None AIM1|0.106090951|49.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs11968933
dbSNP Clinvar
106967107 1037.77 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.00839 0.00839 0.00261 0.03 0.86 5.88 None None None None None None AIM1|0.106090951|49.97%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1799693
dbSNP Clinvar
106992464 2515.77 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.96885 0.96880 0.05505 None None None None None None AIM1|0.106090951|49.97%

AK9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 109850199 225.8 AACA AA PASS 1/1 6 None None None None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs56107923
dbSNP Clinvar
109931580 153.77 T C PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.05252 0.05252 0.04183 None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1998813
dbSNP Clinvar
109900765 465.77 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.04792 0.04792 0.03877 0.34 0.00 -0.25 None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs12175588
dbSNP Clinvar
109894773 688.77 T A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.24421 0.24420 0.20105 0.23 0.00 0.69 None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs7757895
dbSNP Clinvar
109886005 543.77 T C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.22165 0.22160 0.18265 None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1406957
dbSNP Clinvar
109954252 1433.77 C T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.65216 0.65220 0.45464 None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 109849810 1465.73 CT... CT... PASS 0/1 38 None None None None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2277114
dbSNP Clinvar
109827716 347.77 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.38039 0.38040 0.35502 0.62 0.00 0.24 None None None None None None AK9|0.032678932|68.3%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9374111
dbSNP Clinvar
109954518 392.77 T C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.24441 0.24440 0.19495 None None None None None None AK9|0.032678932|68.3%

AKAP12

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3823310
dbSNP Clinvar
151674326 916.77 A C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.43890 0.43890 0.44749 0.44 0.00 -0.84 None None None None None None AKAP12|0.001631589|92.22%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs10872670
dbSNP Clinvar
151669875 431.77 A G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.68670 0.68670 0.24320 1.00 0.00 -1.32 None None None None None None AKAP12|0.001631589|92.22%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3734799
dbSNP Clinvar
151670172 831.77 A C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.54393 0.54390 0.35384 1.00 0.00 -0.58 None None None None None None AKAP12|0.001631589|92.22%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9478197
dbSNP Clinvar
151670726 1032.77 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.01258 0.01258 0.00723 None None None None None None AKAP12|0.001631589|92.22%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs900654
dbSNP Clinvar
151670897 1581.77 T C PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.71106 0.71110 0.21590 None None None None None None AKAP12|0.001631589|92.22%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 . 151674116 786.73 TG... TG... PASS 0/1 46 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None AKAP12|0.001631589|92.22%

AKAP7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1190788
dbSNP Clinvar
131520655 899.77 G A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.19349 0.19350 0.29586 0.03 0.23 3.07 None None None None None None AKAP7|0.092108276|52.79%

AL078585.1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1124951
dbSNP Clinvar
163587146 1248.77 C G PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.83307 0.83310 0.00 None None None None None None PACRG|0.635061961|10.62%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs6937392
dbSNP Clinvar
163612783 1353.77 C A PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.75779 0.75780 0.00 None None None None None None PACRG|0.635061961|10.62%

AL583828.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs766773
dbSNP Clinvar
13470113 2224.77 A T PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.90655 0.90650 0.08629 0.00 None None None None None None GFOD1|0.361383282|23.35%

ALDH5A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3765310
dbSNP Clinvar
24503597 1656.77 C T PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.04932 0.04932 0.02622 0.04 0.62 4.69 None None None None None None ALDH5A1|0.036674729|66.91%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2760118
dbSNP Clinvar
24503590 1467.77 C T PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.31470 0.31470 0.37121 0.11 0.00 0.51 None None None None None None ALDH5A1|0.036674729|66.91%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs4646832
dbSNP Clinvar
24495330 505.77 G C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.04952 0.04952 0.78 0.00 0.54 None None None None None None GPLD1|0.02193833|73.21%,ALDH5A1|0.036674729|66.91%

ALDH8A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3813342
dbSNP Clinvar
135263557 1472.77 C A PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.13838 0.13840 0.04267 None None None None None None ALDH8A1|0.103938562|50.43%

ANKRD6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs61739327
dbSNP Clinvar
90340446 2096.77 C T PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.08886 0.08886 0.10101 0.06 0.39 0.39 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs17292811
dbSNP Clinvar
90333599 1004.77 A G PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.90415 0.90420 0.14826 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3210511
dbSNP Clinvar
90340276 3525.77 G A PASS 0/1 230 SYNONYMOUS_CODING LOW None 0.60084 0.60080 0.48581 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3748085
dbSNP Clinvar
90315789 1409.77 A G PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.78175 0.78170 0.19835 1.00 0.00 0.42 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2273238
dbSNP Clinvar
90326360 1291.77 C T PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.22185 0.22180 0.11200 0.11 0.48 1.14 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs6909915
dbSNP Clinvar
90327873 911.77 G A PASS 0/1 53 None None None 0.70228 0.70230 None None None None None None ANKRD6|0.151109383|42.82%,LYRM2|0.143823506|43.9%

ANKS1A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2177382
dbSNP Clinvar
35050506 2653.77 G A PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.84425 0.84420 0.18430 None None None None None None ANKS1A|0.453129628|18.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs820085
dbSNP Clinvar
35027927 3114.77 T C PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.99042 0.99040 0.01299 1.00 0.00 1.26 None None None None None None ANKS1A|0.453129628|18.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2293242
dbSNP Clinvar
34949607 5786.77 C T PASS 1/1 159 SYNONYMOUS_CODING LOW None 0.55052 0.55050 0.32877 None None None None None None ANKS1A|0.453129628|18.02%

APOBEC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2073014
dbSNP Clinvar
41029109 1352.77 T C PASS 0/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.18431 0.18430 0.15839 None None None None None None OARD1|0.582190497|12.48%,APOBEC2|0.303648666|27.39%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2076472
dbSNP Clinvar
41029342 1552.77 T C PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.17732 0.17730 0.14801 0.11 0.00 -0.12 None None None None None None OARD1|0.582190497|12.48%,APOBEC2|0.303648666|27.39%

APOM

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs707922
dbSNP Clinvar
31625507 2194.77 G T PASS 1/1 61 None None None 0.17632 0.17630 0.14787 0.19 0.00 0.08 None None None None None None APOM|0.162107126|41.28%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs707921
dbSNP Clinvar
31625541 2627.77 C A PASS 1/1 72 None None None 0.11921 0.11920 0.09007 None None None None None None APOM|0.162107126|41.28%

ARHGAP18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3752536
dbSNP Clinvar
130031215 4218.77 T C PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.81270 0.81270 0.15731 1.00 0.00 0.98 None None None None None None ARHGAP18|0.168100451|40.56%

ARID1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3734441
dbSNP Clinvar
157405930 2981.77 G A PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.49521 0.49520 0.47263 None None None None None None ARID1B|0.540737445|14.17%

ARMC12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2817041
dbSNP Clinvar
35705892 3565.77 T C PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.75939 0.75940 0.20329 None None None None None None ARMC12|0.054383959|61.37%

ARMC2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9386758
dbSNP Clinvar
109197379 524.77 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.08127 0.08127 0.01522 0.51 0.00 -1.53 None None None None None None ARMC2|0.059551834|60.01%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs11153136
dbSNP Clinvar
109233725 574.77 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.02207 None None None None None None ARMC2|0.059551834|60.01%

ASCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs240780
dbSNP Clinvar
100964147 2011.77 G C PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.76777 0.76780 0.31801 0.75 0.00 2.58 None None None None None None ASCC3|0.710572602|8.22%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs41288423
dbSNP Clinvar
101166095 1399.77 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.45867 0.45870 0.48401 None None None None None None ASCC3|0.710572602|8.22%

ATXN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs179990
dbSNP Clinvar
16327615 1702.77 A G PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.29271 None None None None None None ATXN1|0.832563526|5.05%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2075974
dbSNP Clinvar
16327330 3196.77 T C PASS 0/1 233 SYNONYMOUS_CODING LOW None 0.36921 0.36920 0.28095 None None None None None None ATXN1|0.832563526|5.05%

B3GAT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1574490
dbSNP Clinvar
71665986 1972.77 G A PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.53275 0.53270 0.47522 None None None None None None B3GAT2|0.224931204|33.88%

BACH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9451298
dbSNP Clinvar
90660319 2210.77 T C PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.31050 0.31050 0.31293 None None None None None None BACH2|0.725202882|7.84%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2236181
dbSNP Clinvar
90661576 1441.77 T C PASS 0/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49082 0.49080 0.39198 None None None None None None BACH2|0.725202882|7.84%

BAI3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs913543
dbSNP Clinvar
70071173 503.77 G A PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.48622 0.48620 0.36812 None None None None None None ADGRB3|0.918272143|3.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2296974
dbSNP Clinvar
70064187 1031.77 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.18051 0.18050 0.21805 None None None None None None ADGRB3|0.918272143|3.02%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1932618
dbSNP Clinvar
69666684 1670.77 A G PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.90535 0.90540 0.11725 0.99 0.01 1.41 None None None None None None ADGRB3|0.918272143|3.02%

BCLAF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1967445
dbSNP Clinvar
136597281 802.77 A T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.39 2.79 None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1967444
dbSNP Clinvar
136597262 340.77 T C PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1967446
dbSNP Clinvar
136597288 828.77 A C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.26 1.82 None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs6940018
dbSNP Clinvar
136599393 2404.77 G C PASS 0/1 199 NON_SYNONYMOUS_CODING MODERATE None 0.49820 0.49820 0.05 0.82 3.65 None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs6919254
dbSNP Clinvar
136599404 1976.77 T C PASS 0/1 192 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9942519
dbSNP Clinvar
136599842 761.77 G A PASS 0/1 54 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9942518
dbSNP Clinvar
136599836 709.77 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9942517
dbSNP Clinvar
136599822 622.77 C G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.00000 0.00000 0.00 0.99 3.47 None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs62431283
dbSNP Clinvar
136582417 123.29 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.99 4.56 None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs747579055
dbSNP Clinvar
136589422 206.77 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.99 4.77 0.02 0.44671 T None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs7381749
dbSNP Clinvar
136594292 112.77 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.35 0.02 2.54 None None None None None None BCLAF1|0.862204176|4.44%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs62431284
dbSNP Clinvar
136582497 577.77 G T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 5.16 None None None None None None BCLAF1|0.862204176|4.44%

BEND6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs546241637
dbSNP Clinvar
56880013 1260.77 A T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.00220 0.00220 None None None None None None BEND6|0.069750588|57.52%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs111588693
dbSNP Clinvar
7727271 1526.77 G A PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.33986 0.33990 0.21 0.00 2.02 None None None None None None BMP6|0.889563802|3.68%

BRD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3918140
dbSNP Clinvar
32948462 362.77 G A PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.08766 0.08766 0.02418 None None None None None None BRD2|0.972652512|1.63%

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 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1321479
dbSNP Clinvar
26501897 1383.77 T C PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.56590 0.56590 0.48414 None None None None None None BTN1A1|0.010791735|80.28%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3736781
dbSNP Clinvar
26505362 1515.77 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.56829 0.56830 0.48685 0.13 0.03 -0.61 None None None None None None BTN1A1|0.010791735|80.28%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9393728
dbSNP Clinvar
26509330 1788.77 C G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.56889 0.56890 0.48778 0.37 0.00 -1.11 None None None None None None BTN1A1|0.010791735|80.28%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3736782
dbSNP Clinvar
26505403 1412.77 C A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.56769 0.56770 0.48693 None None None None None None BTN1A1|0.010791735|80.28%

BTNL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs147483338
dbSNP Clinvar
32370815 2393.77 C T PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.00579 0.00579 0.00059 None None None None None None BTNL2|0.00846386|82.19%

C4A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs201016130
dbSNP Clinvar
31964785 107.57 T G PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.68890 0.68890 1.00 0.00 -0.52 None None None None None None C4A|0.012992445|78.51%

C4B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs2258218
dbSNP Clinvar
31996297 30.8 G A PASS 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -1.24 0.06 0.67622 D None None None None C4B|0.020653435|73.86%

C6orf1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1150781
dbSNP Clinvar
34214322 4679.77 C G PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.76518 0.76520 0.20890 0.00 0.02 1.56 None None None None None None C6orf1|0.002910185|88.8%

C6orf10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs9268384
dbSNP Clinvar
32336586 121.77 A G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.32648 0.32650 0.31831 0.31 0.02 0.49 None None None None None None C6orf10|0.001183307|94.56%