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Genes:
A1BG, ABCA7, ABHD17A, ABHD8, AC004076.9, AC006116.20, AC006486.1, AC008686.1, AC010642.1, AC011500.1, AC012313.1, AC020907.1, AC020922.1, AC024592.12, AC025278.1, AC074212.3, ACPT, ACSBG2, ACTL9, ADAMTS10, ADAMTSL5, ADCK4, AES, AKAP8, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2A1, AP2S1, AP3D1, APBA3, APC2, APOC4, APOE, ARHGAP33, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASPDH, ATF5, ATG4D, ATP1A3, ATP4A, ATP5SL, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, BCAM, BCAT2, BCKDHA, BIRC8, BLOC1S3, BRD4, BSG, C19orf12, C19orf24, C19orf40, C19orf45, C19orf48, C19orf54, C19orf55, C19orf68, C19orf73, C19orf81, C19orf84, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACTIN, CALR, CALR3, CAMSAP3, CAPNS1, CARD8, CATSPERD, CATSPERG, CC2D1A, CCDC105, CCDC106, CCDC114, CCDC130, CCDC151, CCDC155, CCDC159, CCDC61, CCDC8, CCL25, CD177, CD22, CD33, CD37, CD70, CDKN2D, CEACAM1, CEACAM18, CEACAM21, CEACAM4, CEACAM5, CEACAM6, CEACAM8, CELF5, CEP89, CERS1, CERS4, CGB1, CGB7, CHAF1A, CHERP, CIB3, CIC, CIRBP, CKM, CLASRP, CLC, CLEC11A, CLEC4M, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COMP, COPE, CPAMD8, CRB3, CREB3L3, CRTC1, CSNK1G2, CTB-129P6.11, CTB-133G6.1, CTB-54O9.9, CTD-2162K18.4, CTD-2368P22.1, CTD-3193O13.9, CYP2A6, CYP2A7, CYP2B6, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, DCAF15, DEDD2, DENND1C, DHDH, DKFZP761J1410, DKKL1, DLL3, DMKN, DMPK, DMWD, DNAAF3, DNM2, DNMT1, DOCK6, DOT1L, DPY19L3, DUS3L, ECH1, EEF2, EHD2, EID2B, EIF3G, ELANE, ELAVL1, ELL, ELSPBP1, EML2, EMR1, EMR2, EMR3, ERCC2, ERF, ERVV-1, ERVV-2, ETFB, ETV2, EVI5L, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FARSA, FBN3, FBXL12, FBXO17, FCAR, FCER2, FCGBP, FCHO1, FFAR1, FFAR3, FGF21, FGF22, FIZ1, FLT3LG, FPR1, FPR3, FSD1, FSTL3, FTL, FUT2, FUT3, FUT5, FUZ, FXYD3, FXYD5, GADD45B, GALP, GCDH, GDF15, GFY, GIPC1, GIPR, GLTSCR1, GLTSCR2, GMIP, GNA11, GNA15, GNG8, GP6, GPR108, GPR32, GPR4, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GYS1, GZMM, HAS1, HCN2, HDGFRP2, HIF3A, HIPK4, HKR1, HMHA1, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HPN, HRC, HSD17B14, HSH2D, HSPBP1, ICAM1, ICAM3, ICAM5, IFNL1, IGFL2, IGFL4, IGSF23, IL4I1, ILVBL, INSL3, INSR, IRF3, IRGQ, ISOC2, ISYNA1, IZUMO1, IZUMO4, JSRP1, KANK2, KANK3, KCNA7, KCNC3, KDM4B, KEAP1, KHSRP, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KISS1R, KLC3, KLF16, KLF2, KLK1, KLK10, KLK11, KLK12, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT2B, KPTN, KRI1, LAIR1, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LINGO3, LMNB2, LMTK3, LPAR2, LPPR3, LRP3, LRRC25, LRRC8E, LSM4, LSR, LTBP4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP2K2, MAP3K10, MARCH2, MARK4, MAST3, MATK, MAU2, MBD3L1, MBD3L2, MBOAT7, MED16, MEGF8, MEX3D, MIER2, MISP, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MUC16, MUM1, MYBPC2, MYH14, MYO9B, MYPOP, MZF1, NAPSA, NCR1, NDUFA11, NDUFA3, NDUFB7, NDUFS7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOTCH3, NOVA2, NPAS1, NR1H2, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, OCEL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OSCAR, OVOL3, PAF1, PALM, PAPL, PCP2, PCSK4, PDE4A, PEG3, PEPD, PGLS, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PLK5, PNPLA6, POLD1, POLR2E, POLRMT, PPAN-P2RY11, PPAP2C, PPFIA3, PPM1N, PPP1R12C, PPP1R15A, PPP5C, PPP6R1, PRAM1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRR12, PRR22, PRRG2, PRSS57, PRX, PSG11, PSG2, PSG3, PSG4, PSG5, PSG7, PSG8, PSG9, PTBP1, PTGIR, PTPRH, PTPRS, PVR, PVRL2, R3HDM4, RAB8A, RASAL3, RASIP1, RDH13, RDH8, REXO1, RFX1, RGL3, RGS9BP, RHPN2, RINL, RNF126, RPL28, RPS16, RPS9, RPSAP58, RRAS, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SBK2, SBK3, SBNO2, SCAF1, SCN1B, SDHAF1, SELV, SEMA6B, SERTAD1, SHANK1, SHC2, SHISA7, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIN3B, SIPA1L3, SIRT6, SIX5, SLC1A5, SLC27A1, SLC35E1, SLC39A3, SLC44A2, SLC7A9, SMARCA4, SNRNP70, SPHK2, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STXBP2, SUGP2, SULT2A1, SULT2B1, SUPT5H, SUV420H2, SYDE1, SYMPK, SYNE4, SYT3, TBC1D17, TBXA2R, TCF3, TDRD12, THAP8, THEG, TICAM1, TIMM44, TJP3, TMC4, TMEM143, TMEM145, TMEM150B, TMEM160, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM86B, TMEM91, TMPRSS9, TNFSF14, TNNT1, TOMM40, TPGS1, TRAPPC5, TRIM28, TSEN34, TSHZ3, TTYH1, TUBB4A, TYK2, U2AF1L4, U2AF2, UBA2, UBE2M, UBE2S, UBXN6, UNC13A, UPK1A, UQCRFS1, URI1, USE1, USF2, USP29, VN1R1, VN1R2, VN1R4, VSIG10L, VSTM1, WDR18, WDR62, WDR87, WIZ, WTIP, XAB2, XRCC1, YIPF2, ZBTB45, ZC3H4, ZFP28, ZFP36, ZFR2, ZIM2, ZIM3, ZNF100, ZNF112, ZNF132, ZNF134, ZNF135, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF177, ZNF180, ZNF208, ZNF221, ZNF222, ZNF223, ZNF224, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF256, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF331, ZNF347, ZNF350, ZNF358, ZNF383, ZNF404, ZNF415, ZNF417, ZNF419, ZNF429, ZNF432, ZNF439, ZNF443, ZNF444, ZNF446, ZNF45, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF490, ZNF491, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF525, ZNF526, ZNF527, ZNF529, ZNF530, ZNF534, ZNF543, ZNF544, ZNF548, ZNF549, ZNF550, ZNF552, ZNF554, ZNF555, ZNF559, ZNF561, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF573, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF626, ZNF628, ZNF653, ZNF66, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF699, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF724P, ZNF726, ZNF729, ZNF730, ZNF737, ZNF738, ZNF749, ZNF765, ZNF77, ZNF772, ZNF773, ZNF787, ZNF788, ZNF790, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF83, ZNF837, ZNF841, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF91, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN5A, ZSCAN5B, ZSCAN5C, ZSCAN5D, hsa-mir-1199, hsa-mir-150,

+ Genes associated with diseases 118

Genes at Omim

ABCA7, ACPT, ADAMTS10, AMH, ANGPTL4, AP2S1, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, AURKC, BCAT2, BCKDHA, BLOC1S3, BSG, C19orf12, C3, CACNA1A, CALR, CC2D1A, CCDC114, CCDC151, CCDC8, CERS1, CIC, CLEC4M, COLGALT1, COMP, CPAMD8, CRTC1, CYP2A6, CYP2B6, DLL3, DMPK, DNAAF3, DNM2, DNMT1, DOCK6, EEF2, ELANE, ERCC2, ERF, ETFB, FTL, FUT2, FUT3, FUZ, GCDH, GIPR, GNA11, GP6, GPX4, GRIN2D, GTPBP3, GYS1, ICAM1, INSL3, INSR, IRF3, KANK2, KCNC3, KIR3DL1, KISS1R, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MBOAT7, MEGF8, MYH14, MYO9B, NDUFA11, NDUFS7, NLRP12, NOTCH3, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKACA, PRKCG, PRKCSH, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TICAM1, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,

ABCA7	{Alzheimer disease 9, susceptibility to}, 608907 (3)
ACPT	Amelogenesis imperfecta, type IJ, 617297 (3)
ADAMTS10	Weill-Marchesani syndrome 1, recessive, 277600 (3)
AMH	Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4	Plasma triglyceride level QTL, low, 615881 (3)
AP2S1	Hypocalciuric hypercalcemia, type III, 600740 (3)
AP3D1	?Hermansky-Pudlak syndrome 10, 617050 (3)
APC2	?Sotos syndrome 3, 617169 (3)
APOE	Alzheimer disease-2, 104310 (3) Hyperlipoproteinemia, type III, 617347 (3) Lipoprotein glomerulopathy, 611771 (3) Sea-blue histiocyte disease, 269600 (3) {?Macular degeneration, age-related}, 603075 (3) {Coronary artery disease, severe, susceptibility to}, 617347 (3)
ARHGEF18	Retinitis pigmentosa 78, 617433 (3)
ATP1A3	Alternating hemiplegia of childhood 2, 614820 (3) CAPOS syndrome, 601338 (3) Dystonia-12, 128235 (3)
AURKC	Spermatogenic failure 5, 243060 (3)
BCAT2	?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA	Maple syrup urine disease, type Ia, 248600 (3)
BLOC1S3	Hermansky-Pudlak syndrome 8, 614077 (3)
BSG	[Blood group, OK], 111380 (3)
C19orf12	Neurodegeneration with brain iron accumulation 4, 614298 (3) ?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3	{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3) C3 deficiency, 613779 (3) {Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CALR	Myelofibrosis, somatic, 254450 (3) Thrombocythemia, somatic, 187950 (3)
CC2D1A	Mental retardation, autosomal recessive 3, 608443 (3)
CCDC114	Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151	Ciliary dyskinesia, primary, 30, 616037 (3)
CCDC8	3-M syndrome 3, 614205 (3)
CERS1	?Epilepsy, progressive myoclonic, 8, 616230 (3)
CIC	Mental retardation, autosomal dominant 45, 617600 (3)
CLEC4M	SARS infection, protection against (2)
COLGALT1	Brain small vessel disease 3, 618360 (3)
COMP	Epiphyseal dysplasia, multiple, 1, 132400 (3) Pseudoachondroplasia, 177170 (3)
CPAMD8	Anterior segment dysgenesis 8, 617319 (3)
CRTC1	Mucoepidermoid salivary gland carcinoma (3)
CYP2A6	{Lung cancer, resistance to}, 211980 (3) Coumarin resistance, 122700 (3) {Nicotine addiction, protection from}, 188890 (3)
CYP2B6	Efavirenz, poor metabolism of, 614546 (3) {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3	Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DMPK	Myotonic dystrophy 1, 160900 (3)
DNAAF3	Ciliary dyskinesia, primary, 2, 606763 (3)
DNM2	Centronuclear myopathy 1, 160150 (3) Charcot-Marie-Tooth disease, axonal type 2M, 606482 (3) Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3) Lethal congenital contracture syndrome 5, 615368 (3)
DNMT1	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3) Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6	Adams-Oliver syndrome 2, 614219 (3)
EEF2	?Spinocerebellar ataxia 26, 609306 (3)
ELANE	Neutropenia, cyclic, 162800 (3) Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ERCC2	?Cerebrooculofacioskeletal syndrome 2, 610756 (3) Trichothiodystrophy 1, photosensitive, 601675 (3) Xeroderma pigmentosum, group D, 278730 (3)
ERF	Chitayat syndrome, 617180 (3) Craniosynostosis 4, 600775 (3)
ETFB	Glutaric acidemia IIB, 231680 (3)
FTL	Hyperferritinemia-cataract syndrome, 600886 (3) L-ferritin deficiency, dominant and recessive, 615604 (3) Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT2	{Norwalk virus infection, resistance to} (3) {Vitamin B12 plasma level QTL1}, 612542 (3) [Bombay phenotype, digenic], 616754 (3)
FUT3	[Blood group, Lewis] (3)
FUZ	{Neural tube defects, susceptibility to}, 182940 (3)
GCDH	Glutaricaciduria, type I, 231670 (3)
GIPR	[Plasma glucose, 2-hour, QTL 2] (2)
GNA11	Hypocalcemia, autosomal dominant 2, 615361 (3) Hypocalciuric hypercalcemia, type II, 145981 (3)
GP6	Bleeding disorder, platelet-type, 11, 614201 (3)
GPX4	Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D	Epileptic encephalopathy, early infantile, 46, 617162 (3)
GTPBP3	Combined oxidative phosphorylation deficiency 23, 616198 (3)
GYS1	Glycogen storage disease 0, muscle, 611556 (3)
ICAM1	{Malaria, cerebral, susceptibility to}, 611162 (3)
INSL3	Cryptorchidism, 219050 (3)
INSR	Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3) Leprechaunism, 246200 (3) Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3) Rabson-Mendenhall syndrome, 262190 (3)
IRF3	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
KANK2	Nephrotic syndrome, type 16, 617783 (3) Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3	Spinocerebellar ataxia 13, 605259 (3)
KIR3DL1	{AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3) ?Precocious puberty, central, 1, 176400 (3)
KLK1	[Kallikrein, decreased urinary activity of], 615953 (3)
KLK4	Amelogenesis imperfecta, type IIA1, 204700 (3)
KMT2B	Dystonia 28, childhood-onset, 617284 (3)
KPTN	Mental retardation, autosomal recessive 41, 615637 (3)
LDLR	Hypercholesterolemia, familial, 143890 (3) LDL cholesterol level QTL2, 143890 (3)
LGI4	Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LHB	Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LMNB2	{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3) ?Epilepsy, progressive myoclonic, 9, 616540 (3)
LTBP4	Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG	Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1	Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2	Cardiofaciocutaneous syndrome 4, 615280 (3)
MBOAT7	Mental retardation, autosomal recessive 57, 617188 (3)
MEGF8	Carpenter syndrome 2, 614976 (3)
MYH14	Deafness, autosomal dominant 4A, 600652 (3) ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B	{Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11	Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7	Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NLRP12	Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3) Lateral meningocele syndrome, 130720 (3) ?Myofibromatosis, infantile 2, 615293 (3)
NUP62	Striatonigral degeneration, infantile, 271930 (3)
OPA3	Optic atrophy 3 with cataract, 165300 (3) 3-methylglutaconic aciduria, type III, 258501 (3)
PEPD	Prolidase deficiency, 170100 (3)
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C	Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2	Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6	Boucher-Neuhauser syndrome, 215470 (3) Oliver-McFarlane syndrome, 275400 (3) ?Laurence-Moon syndrome, 245800 (3) Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3) {Colorectal cancer, susceptibility to, 10}, 612591 (3)
PRKACA	Cushing syndrome, ACTH-independent adrenal, somatic, 615830 (3)
PRKCG	Spinocerebellar ataxia 14, 605361 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
PRX	Charcot-Marie-Tooth disease, type 4F, 614895 (3) Dejerine-Sottas disease, 145900 (3)
RGS9BP	Bradyopsia, 608415 (3)
RYR1	Central core disease, 117000 (3) {Malignant hyperthermia susceptibility 1}, 145600 (3) King-Denborough syndrome, 145600 (3) Minicore myopathy with external ophthalmoplegia, 255320 (3) Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2	Deafness, autosomal recessive 68, 610419 (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) Epileptic encephalopathy, early infantile, 52, 617350 (3)
SDHAF1	Mitochondrial complex II deficiency, 252011 (3)
SIPA1L3	?Cataract 45, 616851 (3)
SIX5	Branchiootorenal syndrome 2, 610896 (3)
SLC7A9	Cystinuria, 220100 (3)
SMARCA4	Coffin-Siris syndrome 4, 614609 (3) {Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SPTBN4	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STXBP2	Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1	Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4	Deafness, autosomal recessive 76, 615540 (3)
TBXA2R	{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3	Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TICAM1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
TNNT1	Nemaline myopathy 5, Amish type, 605355 (3)
TSEN34	?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A	Leukodystrophy, hypomyelinating, 6, 612438 (3) Dystonia 4, torsion, autosomal dominant, 128101 (3)
TYK2	Immunodeficiency 35, 611521 (3)
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1	?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ADAMTS10, ADCK4, AMH, AP2S1, APOE, ATP1A3, AURKC, BCAM, BCKDHA, BLOC1S3, BSG, C3, CACNA1A, CALR3, CC2D1A, CCDC114, CCDC151, CCDC8, CERS1, COMP, CYP2A6, CYP2B6, CYP4F2, DLL3, DMPK, DNM2, DNMT1, DOCK6, ELANE, ERCC2, ERF, ETFB, FTL, FUT3, FUZ, GCDH, GNA11, GP6, GPX4, GTPBP3, GYS1, INSL3, INSR, IRF3, KANK2, KCNC3, KISS1R, KLK4, KPTN, LDLR, LHB, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MEGF8, MYH14, NDUFA11, NDUFS7, NLRP12, NLRP7, NOTCH3, NUP62, OPA3, PEPD, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKACA, PRKCG, PRKCSH, PRX, RGS9BP, RYR1, S1PR2, SCN1B, SDHAF1, SIPA1L3, SIX5, SLC7A9, SMARCA4, STXBP2, SYNE4, TBXA2R, TCF3, TICAM1, TNNT1, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,

ADAMTS10	Weill-Marchesani syndrome 1
ADCK4	Nephrotic syndrome, type 9
AMH	Persistent Mullerian duct syndrome, type I
AP2S1	Hypocalciuric hypercalcemia, familial, type III
APOE	Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III) Lipoprotein glomerulopathy Sea-blue histiocyte disease
ATP1A3	Alternating hemiplegia of childhood 2
AURKC	Spermatogenic failure 5
BCAM	Blood group, Lutheran system Blood group, Auberger system Lutheran, null
BCKDHA	Maple syrup urine disease, type Ia
BLOC1S3	Hermansky-Pudlak syndrome 8
BSG	Blood group, OK
C3	Complement component 3 deficiency, autosomal recessive Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
CALR3	Cardiomyopathy, familial hypertrophic, 19
CC2D1A	Mental retardation, autosomal recessive 3
CCDC114	Ciliary dyskinesia, primary, 20
CCDC151	Ciliary dyskinesia, primary,30
CCDC8	Three M syndrome 3
CERS1	Epilepsy, progressive myoclonic 8
COMP	Pseudoachondroplasia Multiple ephiphyseal dysplasia
CYP2A6	CYP2A6-related drug metabolism
CYP2B6	Efavirenz, poor metabolism of
CYP4F2	Warfarin metabolism
DLL3	Spondylocostal dysostosis 1, autosomal recessive
DMPK	Myotonic dystrophy 1
DNM2	Charcot-Marie-Tooth disease, dominant intermediate B Charcot-Marie-Tooth disease, axonal, type 2M Myopathy, centronuclear Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, autosomal recessive
DNMT1	Neuropathy, hereditary sensory, type IE Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6	Adams-Oliver syndrome 2
ELANE	Neutropenia, severe congenital 1, autosomal dominant Neutropenia, cyclic
ERCC2	Trichothiodystrophy 1, photosensitive Xeroderma pigmentosum, group D
ERF	Craniosynostosis 4
ETFB	Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II
FTL	L-ferritin deficiency Neurodegeneration with brain iron accumulation 3 Hyperferritinemia-cataract syndrome
FUT3	Blood group, Lewis
FUZ	Neural tube defects, susceptibility to
GCDH	Glutaric aciduria, type I
GNA11	Hypocalcemia 2, autosomal dominant Hypocalciuric hypercalcemia, autosomal dominant
GP6	Bleeding disorder, platelet-type, 11
GPX4	Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3	Combined oxidative phosphorylation deficiency 23
GYS1	Glycogen storage disease, type 0, muscle
INSL3	Cryptorchidism
INSR	Hyperinsulinemic hypoglycemia, familial, 5 Rabson-Mendenhall syndrome Donohoe syndrome
IRF3	Herpes simplex encephalitis, susceptibility to, 7
KANK2	Palmoplantar keratoderma and woolly hair
KCNC3	Spinocerebellar ataxia 13
KISS1R	Hypogonadotropic hypogonadism 8 with or without anosmia
KLK4	Amelogenesis imperfecta, type IIA1
KPTN	Mental retardation, autosomal recessive 41
LDLR	Hypercholesterolemia, familial
LHB	Hypogonadotropic hypogonadism 23 with or without anosmia
LMNB2	Liopdystrophy, partial, acquired Epilepsy, progressive myoclonic, 9
LTBP4	Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG	Spastic paraplegia, autosomal recessive 75
MAN2B1	Mannosidosis, alpha B, lysosomal
MAP2K2	Cardiofaciocutaneous syndrome
MEGF8	Carpenter syndrome 2
MYH14	Deafness, autosomal dominant 4 Deafness, autosomal dominant 4B Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFA11	Mitochondrial complex I deficiency
NDUFS7	Mitochondrial complex I deficiency Leigh syndrome
NLRP12	Familial cold autoinflammatory syndrome 2
NLRP7	Hydatidiform mole, recurrent, 1
NOTCH3	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NUP62	Striatonigral degeneration, infantile
OPA3	3-methylglutaconic aciduria, type III Optic atrophy 3, autosomal dominant
PEPD	Prolidase deficiency
PIK3R2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C	Lethal congenital contractural syndrome 3
PLEKHG2	Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6	Boucher-Neuhauser syndrome Laurence-Moon syndrome Oliver-McFarlane syndrome
POLD1	Colorectal cancer, susceptibility to, 10
PRKACA	Primary pigmented nodular adrenocortical disease 4
PRKCG	Spinocerebellar ataxia 14
PRKCSH	Polycystic liver disease
PRX	Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 4F
RGS9BP	Bradyopsia
RYR1	Malignant hyperthermia, susceptibility 1 Central core disease Minicore myopathy Multicore myopathy Minicore myopathy with external ophthalmoplegia Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2	Deafness, autosomal recessive 68
SCN1B	Atrial fibrillation, familial 13 Brugada syndrome 5
SDHAF1	Mitochondrial complex II deficiency
SIPA1L3	Cataract 45
SIX5	Branchiootorenal syndrome 2
SLC7A9	Cystinuria
SMARCA4	Rhabdoid tumor predisposition syndrome 2
STXBP2	Hemophagocytic lymphohistiocytosis, familial 5
SYNE4	Deafness, autosomal recessive, 76
TBXA2R	Bleeding disorder, platelet-type 13, susceptibility to
TCF3	Agammaglobulinemia 8, autosomal dominant
TICAM1	Herpes simplex encephalitis, susceptibility to, 4
TNNT1	Nemaline myopathy 5
TSEN34	Pontocerebellar hypoplasia type 2C
TUBB4A	Dystonia 4, torsion, autosomal dominant Leukodystrophy, hypomyelinating, 6
TYK2	Immunodeficiency 35
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2	Schizophrenia
ZNF480	Schizophrenia
ZNF565	Schizophrenia

Genes at HGMD

Summary

Number of Variants: 9669
Number of Genes: 801

Export to: CSV

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A1BG
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs893184 dbSNP Clinvar	58864479	12484.96	T	C	PASS	1/1	139	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.84844	0.84840	0.10849	0.91	0.00		None None	None None None None	A1BG\|0.00221541\|90.38%
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	mm200520lff	19	rs3752243 dbSNP Clinvar	1054060	9334.96	A	G	PASS	0/1	339	SYNONYMOUS_CODING	LOW	SILENT	0.53614	0.53610	0.47355				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3752234 dbSNP Clinvar	1047002	7076.26	A	G	PASS	0/1	98	SYNONYMOUS_CODING	LOW	SILENT	0.57887	0.57890	0.46635				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3764645 dbSNP Clinvar	1042809	2825.05	A	G	PASS	1/1	58	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.39956	0.39960	0.38867	0.48	0.04		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs78320196 dbSNP Clinvar	1061804	290.71	T	C	PASS	0/1	41	SYNONYMOUS_CODING	LOW	SILENT	0.05970	0.05970	0.03914				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3764652 dbSNP Clinvar	1052005	1860.96	C	T	PASS	0/1	72	SYNONYMOUS_CODING	LOW	SILENT	0.37939	0.37940	0.40154				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs4147915 dbSNP Clinvar	1049305	1426.71	C	A	PASS	0/1	121	SYNONYMOUS_CODING	LOW	SILENT	0.19988	0.19990	0.13185				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3752237 dbSNP Clinvar	1047161	15559.27	A	G	PASS	1/1	196	SYNONYMOUS_CODING	LOW	SILENT	0.69529	0.69530	0.37591				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3745842 dbSNP Clinvar	1055191	3543.96	G	A	PASS	0/1	118	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.39058	0.39060	0.40647	0.54	0.00		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs4147914 dbSNP Clinvar	1049269	3240.07	G	A	PASS	0/1	72	SYNONYMOUS_CODING	LOW	SILENT	0.24062	0.24060	0.15286				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs4147935 dbSNP Clinvar	1065044	5428.26	C	T	PASS	0/1	117	SYNONYMOUS_CODING	LOW	SILENT			0.26141				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs4147934 dbSNP Clinvar	1065018	5561.29	G	T	PASS	0/1	90	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.60503	0.60500	0.25026	0.88	0.03		None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs4147930 dbSNP Clinvar	1064193	3983.29	G	A	PASS	0/1	35	SYNONYMOUS_CODING	LOW	SILENT	0.60643	0.60640	0.29566				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3752240 dbSNP Clinvar	1051214	3745.26	A	G	PASS	0/1	52	SYNONYMOUS_CODING	LOW	SILENT	0.28914	0.28910	0.36546				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3752241 dbSNP Clinvar	1053524	1434.96	C	G	PASS	0/1	46	SYNONYMOUS_CODING	LOW	SILENT	0.18271	0.18270	0.16388				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs881768 dbSNP Clinvar	1056065	2194.96	A	G	PASS	0/1	89	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	SILENT	0.44209	0.44210	0.45937				None None	None None None None	ABCA7\|0.007770288\|82.8%
	View	mm200520lff	19	rs3752246 dbSNP Clinvar	1056492	26584.96	G	C	PASS	1/1	300	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.82548	0.82550	0.12788	1.00	0.00		None None	None None None None	ABCA7\|0.007770288\|82.8%
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	mm200520lff	19	rs4807160 dbSNP Clinvar	1880950	9252.28	T	C	PASS	1/1	85	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.63099	0.63100	0.36662	1.00	0.00		None None	None None None None	ABHD17A\|0.044405191\|64.37%
ABHD8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs11086067 dbSNP Clinvar	17412399	1697.07	G	A	PASS	0/1	49	SYNONYMOUS_CODING	LOW	SILENT	0.23862	0.23860	0.24494				None None	None None None None	ABHD8\|0.012085184\|79.18%,MRPL34\|0.007545903\|83.01%
	View	mm200520lff	19	rs11086066 dbSNP Clinvar	17412366	2470.07	G	A	PASS	0/1	55	SYNONYMOUS_CODING	LOW	SILENT	0.23702	0.23700	0.24633				None None	None None None None	ABHD8\|0.012085184\|79.18%,MRPL34\|0.007545903\|83.01%
AC004076.9
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs4801481 dbSNP Clinvar	57949426	5178.25	A	G	PASS	1/1	47	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.90915	0.90910		0.00	0.00		None None	None None None None	ZNF749\|0.000341563\|99.24%
AC006116.20
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs3205192 dbSNP Clinvar	56797879	2579.26	G	A	PASS	0/1	50	None	None	None	0.37640	0.37640			0.00		None None	None None None None	ZSCAN5A\|0.000278912\|99.5%
	View	mm200520lff	19	rs144123169 dbSNP Clinvar	56795575	2553.75	G	GGTAA	PASS	0/1	135	None	None	None	0.01338	0.01338					None None	None None None None	ZSCAN5A\|0.000278912\|99.5%
AC006486.1
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	mm200520lff	19	rs117970118 dbSNP Clinvar	42747230	1775.71	G	C	PASS	0\|1	101	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.07268	0.07268			0.00		None None	None None None None	None
	View	mm200520lff	19	rs11878620 dbSNP Clinvar	42747229	1775.71	G	A	PASS	0\|1	101	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11302	0.11300			0.00		None None	None None None None	None
AC008686.1
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	mm200520lff	19	rs761986958 dbSNP Clinvar	13899041	2964.74	CT...	C,CT	PASS	1/2	18	FRAME_SHIFT	HIGH								None None	None None None None	None
AC010642.1
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	mm200520lff	19	rs260501 dbSNP Clinvar	58790807	2406.0	T	G	PASS	1/1	21	SYNONYMOUS_CODING	LOW	SILENT	0.60663	0.60660					None None	None None None None	ZNF8\|0.004857832\|86%
	View	mm200520lff	19	rs260502 dbSNP Clinvar	58790784	1524.05	G	A	PASS	0/1	27	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.30951	0.30950			0.00		None None	None None None None	ZNF8\|0.004857832\|86%
	View	mm200520lff	19	rs374431 dbSNP Clinvar	58790713	11120.28	G	C	PASS	1/1	67	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.60623	0.60620		0.00	0.00		None None	None None None None	ZNF8\|0.004857832\|86%
	View	mm200520lff	19	rs437229 dbSNP Clinvar	58790675	16789.28	T	C	PASS	1/1	139	SYNONYMOUS_CODING	LOW	SILENT	0.64477	0.64480					None None	None None None None	ZNF8\|0.004857832\|86%
AC011500.1
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	mm200520lff	19	rs1865091 dbSNP Clinvar	39932066	1789.26	T	C	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.63998	0.64000		0.24	0.00		None None	None None None None	SUPT5H\|0.226168272\|33.75%
	View	mm200520lff	19	rs1865090 dbSNP Clinvar	39932023	1448.96	T	C	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.24201	0.24200		0.01	0.51		None None	None None None None	SUPT5H\|0.226168272\|33.75%
AC012313.1
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	mm200520lff	19	rs13345602 dbSNP Clinvar	58908185	770.71	T	C	PASS	0/1	93	SYNONYMOUS_CODING	LOW	SILENT	0.14397	0.14400					None None	None None None None	None
	View	mm200520lff	19	rs61743678 dbSNP Clinvar	58908297	1147.71	G	A	PASS	0/1	84	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11402	0.11400		0.11	0.54		None None	None None None None	None
	View	mm200520lff	19	rs13343526 dbSNP Clinvar	58908150	9537.96	C	G	PASS	1/1	85	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.85503	0.85500		1.00	0.00		None None	None None None None	None
AC020907.1
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	mm200520lff	19	rs10423723 dbSNP Clinvar	35597620	11758.29	C	T	PASS	0/1	151	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.48722	0.48720		0.07	0.00		None None	None None None None	None
	View	mm200520lff	19	rs10424084 dbSNP Clinvar	35597462	21218.29	A	G	PASS	0/1	240	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.48742	0.48740		0.63	0.00		None None	None None None None	None
	View	mm200520lff	19	rs2445826 dbSNP Clinvar	35597352	10847.25	T	C	PASS	1/1	59	SYNONYMOUS_CODING	LOW	SILENT	0.99101	0.99100					None None	None None None None	None
	View	mm200520lff	19	rs7258700 dbSNP Clinvar	35597729	3680.29	C	T	PASS	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.48363	0.48360		1.00	0.00		None None	None None None None	None
AC020922.1
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	mm200520lff	19	rs10405231 dbSNP Clinvar	55856211	1981.96	C	T	PASS	0/1	86	SYNONYMOUS_CODING	LOW	SILENT	0.49241	0.49240	0.40018				None None	None None None None	SUV420H2\|0.012688919\|78.75%
	View	mm200520lff	19	rs10405385 dbSNP Clinvar	55856147	438.71	G	A	PASS	0/1	63	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.03454	0.03454	0.03596		0.00		None None	None None None None	SUV420H2\|0.012688919\|78.75%
AC024592.12
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs778971 dbSNP Clinvar	5867748	14211.27	G	T	PASS	1/1	185	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE	0.63878	0.63880	0.46529	0.09	0.65		None None	None None None None	FUT5\|0.001156471\|94.68%
AC025278.1
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	mm200520lff	19	rs114601404 dbSNP Clinvar	7011858	4539.05	C	G	PASS	0\|1	111	SYNONYMOUS_CODING	LOW	SILENT	0.15216	0.15220					None None	None None None None	None
	View	mm200520lff	19	rs546207896 dbSNP Clinvar	7011878	3314.05	C	A	PASS	0\|1	88	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.15216	0.15220		0.04	0.01		None None	None None None None	None
	View	mm200520lff	19	rs7254322 dbSNP Clinvar	7011826	4255.05	T	C	PASS	0/1	136	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.15455	0.15460		0.92	0.79		None None	None None None None	None
	View	mm200520lff	19	rs7249689 dbSNP Clinvar	7011860	4539.05	G	C	PASS	0\|1	109	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.15216	0.15220		1.00	0.00		None None	None None None None	None
AC074212.3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs139434566 dbSNP Clinvar	46265047	9288.3	A	AT...	PASS	0/1	88	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE								None None	None None None None	None
	View	mm200520lff	19	rs8112282 dbSNP Clinvar	46265029	9796.26	C	T	PASS	0/1	139	SYNONYMOUS_CODING	LOW	SILENT	0.53674	0.53670					None None	None None None None	None
	View	mm200520lff	19	rs725660 dbSNP Clinvar	46262286	4249.96	C	A	PASS	0/1	220	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.29253	0.29250		0.01	0.94		None None	None None None None	None
ACPT
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs55735528 dbSNP Clinvar	51297826	2670.71	C	A	PASS	0\|1	186	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.32987	0.32990	0.23497	1.00	0.00		None None	None None None None	ACPT\|0.016239372\|76.31%
	View	mm200520lff	19	rs55716643 dbSNP Clinvar	51297825	2670.71	G	A	PASS	0\|1	186	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.32987	0.32990	0.23512	0.53	0.00		None None	None None None None	ACPT\|0.016239372\|76.31%
ACSBG2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs4807840 dbSNP Clinvar	6156483	4965.29	T	C	PASS	0/1	73	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.71206	0.71210	0.29994	1.00	0.00		None None	None None None None	RFX2\|0.09042428\|53.13%,ACSBG2\|0.002277408\|90.23%
ACTL9
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs4804079 dbSNP Clinvar	8808373	13731.96	G	T	PASS	0/1	131	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.60004	0.60000	0.47201	0.51	0.87		None None	None None None None	ACTL9\|0.004666462\|86.26%
	View	mm200520lff	19	rs10410943 dbSNP Clinvar	8808900	12031.96	A	G	PASS	0/1	137	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.79173	0.79170	0.27926	1.00	0.00		None None	None None None None	ACTL9\|0.004666462\|86.26%
	View	mm200520lff	19	rs2340550 dbSNP Clinvar	8808942	12544.96	A	G	PASS	0/1	140	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.79173	0.79170	0.28447	0.56	0.00		None None	None None None None	ACTL9\|0.004666462\|86.26%
ADAMTS10
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs7252299 dbSNP Clinvar	8645786	8366.25	A	C	PASS	1/1	70	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.99980	0.99980	0.00015	1.00	0.00		None None	None None None None	ADAMTS10\|0.099701531\|51.23%
	View	mm200520lff	19	rs7255721 dbSNP Clinvar	8669931	8424.26	G	C	PASS	0/1	149	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.89397	0.89400	0.21830	1.00	0.00		None None	None None None None	ADAMTS10\|0.099701531\|51.23%
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	mm200520lff	19	rs265291 dbSNP Clinvar	1510661	3910.28	A	G	PASS	1/1	39	SYNONYMOUS_CODING	LOW	SILENT	0.93570	0.93570	0.06900				None None	None None None None	ADAMTSL5\|0.011039552\|80.05%
ADCK4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs36012476 dbSNP Clinvar	41206060	1685.71	G	C	PASS	0/1	134	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01318	0.01318	0.03791	1.00	0.00		None None	None None None None	ADCK4\|0.043749388\|64.59%
	View	mm200520lff	19	rs11673492 dbSNP Clinvar	41220529	5798.05	C	T	PASS	1/1	143	SYNONYMOUS_CODING	LOW	SILENT	0.09924	0.09924	0.17146				None None	None None None None	ADCK4\|0.043749388\|64.59%
AES
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs11539938 dbSNP Clinvar	3062857	1881.96	T	C	PASS	0/1	103	SYNONYMOUS_CODING	LOW	SILENT	0.38538	0.38540	0.35080				None None	None None None None	AES\|0.064359463\|58.79%
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	mm200520lff	19	rs144064099 dbSNP Clinvar	15465976	1674.71	G	A	PASS	0/1	121	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00060	0.00060	0.00154	0.26	0.00		None None	None None None None	AKAP8\|0.019632827\|74.36%
AKAP8L
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs190950409 dbSNP Clinvar	15514482	1525.71	T	C	PASS	0/1	177	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00060	0.00060	0.00143	0.19	0.00		None None	None None None None	AKAP8L\|0.140468826\|44.33%
	View	mm200520lff	19	rs2058322 dbSNP Clinvar	15508362	6945.25	G	C	PASS	1/1	52	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	1.00000	1.00000		0.71	0.00		None None	None None None None	AKAP8L\|0.140468826\|44.33%
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	mm200520lff	19	rs2293009 dbSNP Clinvar	49967680	5726.26	G	A	PASS	0/1	99	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.31150	0.31150	0.32921				None None	None None None None	ALDH16A1\|0.021103617\|73.62%
	View	mm200520lff	19	rs150239880 dbSNP Clinvar	49964969	1709.71	T	C	PASS	0\|1	126	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00120	0.00120	0.00146	0.00	1.00		None None	None None None None	ALDH16A1\|0.021103617\|73.62%
	View	mm200520lff	19	rs7259560 dbSNP Clinvar	49965173	3473.26	A	T	PASS	0/1	58	SYNONYMOUS_CODING	LOW	SILENT	0.30092	0.30090	0.32176				None None	None None None None	ALDH16A1\|0.021103617\|73.62%
	View	mm200520lff	19	rs1320303 dbSNP Clinvar	49964977	10614.96	C	G	PASS	0\|1	129	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.51018	0.51020	0.34881	1.00	0.00		None None	None None None None	ALDH16A1\|0.021103617\|73.62%
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	mm200520lff	19	rs10407022 dbSNP Clinvar	2249477	10620.28	G	T	PASS	0/1	90	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.67592	0.67590	0.26055	0.00	0.37		None None	None None None None	AMH\|0.062219269\|59.26%
	View	mm200520lff	19	rs10417628 dbSNP Clinvar	2251817	39383.25	T	C	PASS	1/1	262	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.99002	0.99000	0.01798	0.77	0.00		None None	None None None None	AMH\|0.062219269\|59.26%
	View	mm200520lff	19	rs17854573 dbSNP Clinvar	2250469	306.71	G	A	PASS	0/1	28	SYNONYMOUS_CODING	LOW	SILENT	0.08446	0.08446	0.03417				None None	None None None None	AMH\|0.062219269\|59.26%
	View	mm200520lff	19	rs7252789 dbSNP Clinvar	2251512	7181.28	T	A	PASS	0/1	43	SYNONYMOUS_CODING	LOW	SILENT	0.91893	0.91890					None None	None None None None	AMH\|0.062219269\|59.26%
ANGPTL4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs1044250 dbSNP Clinvar	8436164	5694.26	C	T	PASS	0/1	77	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.23962	0.23960	0.29140	0.27	0.06		None None	None None None None	ANGPTL4\|0.044628099\|64.29%
	View	mm200520lff	19	rs139295817 dbSNP Clinvar	8436216	1476.71	C	T	PASS	0/1	111	SYNONYMOUS_CODING	LOW	SILENT	0.00040	0.00040	0.00154				None None	None None None None	ANGPTL4\|0.044628099\|64.29%
ANKLE1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs8108174 dbSNP Clinvar	17393530	2616.26	T	A	PASS	1/1	43	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.46066	0.46070	0.43206	0.01	1.00		None None	None None None None	USHBP1\|0.004297284\|86.6%,ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs1864113 dbSNP Clinvar	17393504	4193.96	G	C	PASS	1/1	36	SYNONYMOUS_CODING	LOW	SILENT	0.63538	0.63540	0.16019				None None	None None None None	USHBP1\|0.004297284\|86.6%,ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs1864116 dbSNP Clinvar	17393015	1728.96	C	T	PASS	1/1	11	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.63538	0.63540	0.13051	0.21	0.02		None None	None None None None	USHBP1\|0.004297284\|86.6%,ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs8100241 dbSNP Clinvar	17392894	3390.26	G	A	PASS	1/1	49	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.42732	0.42730	0.43512	0.01	0.88		None None	None None None None	USHBP1\|0.004297284\|86.6%,ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs1465581 dbSNP Clinvar	17397481	1608.92	G	T	PASS	1/1	60	None	None	None					0.01		None None	None None None None	ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs751599 dbSNP Clinvar	17396549	6299.96	T	C	PASS	1/1	68	SYNONYMOUS_CODING	LOW	SILENT	0.63538	0.63540	0.19937				None None	None None None None	ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs11882562 dbSNP Clinvar	17395055	5513.96	C	G	PASS	1/1	64	SYNONYMOUS_CODING	LOW	SILENT	0.63538	0.63540	0.19922				None None	None None None None	ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs11086065 dbSNP Clinvar	17395003	8823.96	A	G	PASS	1/1	98	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.63518	0.63520	0.19914	1.00	0.00		None None	None None None None	ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs891017 dbSNP Clinvar	17394504	30141.96	A	C	PASS	1/1	317	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.63538	0.63540	0.19952	0.48	0.00		None None	None None None None	ANKLE1\|0.002494569\|89.7%
	View	mm200520lff	19	rs2363956 dbSNP Clinvar	17394124	6904.26	T	G	PASS	1/1	90	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.46066	0.46070	0.48747	0.03	1.00		None None	None None None None	ANKLE1\|0.002494569\|89.7%
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	mm200520lff	19	rs6510794 dbSNP Clinvar	4217956	3010.26	A	G	PASS	1/1	50	SYNONYMOUS_CODING	LOW	SILENT	0.45048	0.45050	0.37911				None None	None None None None	ANKRD24\|0.006993334\|83.48%
	View	mm200520lff	19	rs353693 dbSNP Clinvar	4217207	12338.28	T	G	PASS	1/1	109	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.97504	0.97500	0.05681	1.00	0.00		None None	None None None None	ANKRD24\|0.006993334\|83.48%
	View	mm200520lff	19	rs10413818 dbSNP Clinvar	4216910	5910.27	G	A	PASS	1/1	62	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.71166	0.71170	0.27616	0.11	0.00		None None	None None None None	ANKRD24\|0.006993334\|83.48%
	View	mm200520lff	19	rs58333777 dbSNP Clinvar	4217587	854.26	G	A	PASS	1/1	17	SYNONYMOUS_CODING	LOW	SILENT	0.33387	0.33390					None None	None None None None	ANKRD24\|0.006993334\|83.48%
	View	mm200520lff	19	rs12978469 dbSNP Clinvar	4210356	4383.26	G	A	PASS	1/1	86	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.61282	0.61280	0.37995	0.11	0.01		None None	None None None None	ANKRD24\|0.006993334\|83.48%
	View	mm200520lff	19	rs2052191 dbSNP Clinvar	4200156	2396.26	G	A	PASS	1/1	37	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.40635	0.40630	0.45356	1.00	0.00		None None	None None None None	ANKRD24\|0.006993334\|83.48%
	View	mm200520lff	19	rs1963331 dbSNP Clinvar	4198154	1069.26	C	T	PASS	1/1	19	SYNONYMOUS_CODING	LOW	SILENT	0.31689	0.31690					None None	None None None None	ANKRD24\|0.006993334\|83.48%
ANKRD27
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs405858 dbSNP Clinvar	33106621	9662.25	C	T	PASS	1/1	105	SYNONYMOUS_CODING	LOW	SILENT	0.48083	0.48080	0.38974				None None	None None None None	ANKRD27\|0.115031878\|48.32%
	View	mm200520lff	19	rs2302970 dbSNP Clinvar	33098632	7095.28	G	C	PASS	0/1	57	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.26518	0.26520	0.41619	0.79	0.01		None None	None None None None	ANKRD27\|0.115031878\|48.32%
	View	mm200520lff	19	rs7248273 dbSNP Clinvar	33096816	848.71	C	T	PASS	0/1	66	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.18151	0.18150	0.15424				None None	None None None None	ANKRD27\|0.115031878\|48.32%
	View	mm200520lff	19	rs7247420 dbSNP Clinvar	33096786	774.71	G	A	PASS	0/1	61	SYNONYMOUS_CODING	LOW	SILENT	0.23463	0.23460	0.18653				None None	None None None None	ANKRD27\|0.115031878\|48.32%
	View	mm200520lff	19	rs2287669 dbSNP Clinvar	33110204	6552.28	T	C	PASS	0/1	59	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.46026	0.46030	0.44710	0.22	0.08		None None	None None None None	ANKRD27\|0.115031878\|48.32%
	View	mm200520lff	19	rs6510271 dbSNP Clinvar	33117666	13070.28	T	C	PASS	0/1	147	SYNONYMOUS_CODING	LOW	SILENT	0.65196	0.65200	0.34084				None None	None None None None	ANKRD27\|0.115031878\|48.32%
ANO8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	mm200520lff	19	rs56286266 dbSNP Clinvar	17435887	8513.07	C	T	PASS	0\|1	158	SYNONYMOUS_CODING	LOW	SILENT	0.24621	0.24620	0.27157				None None	None None None None	ANO8\|0.037387399\|66.65%
	View	mm200520lff	19	rs755123 dbSNP Clinvar	17435884	14541.29	T	C	PASS	0\|1	159	SYNONYMOUS_CODING	LOW	SILENT	0.61881	0.61880	0.24758				None None	None None None None	ANO8\|0.037387399\|66.65%
	View	mm200520lff	19	rs8102944 dbSNP Clinvar	17438642	18301.29	A	G	PASS	0/1	257	SYNONYMOUS_CODING	LOW	SILENT	0.62181	0.62180	0.24289				None None	None None None None	ANO8\|0.037387399\|66.65%