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+ Genes 384

Genes:
ABCD4, ABHD12B, ACIN1, ACOT2, ACOT4, ACOT6, ACTN1, ACYP1, ADAM21, ADCK1, ADSSL1, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AKT1, AL133373.1, AL139099.1, AL391152.1, ANG, ANGEL1, APEX1, APOPT1, AREL1, ARHGEF40, ARID4A, ASB2, ASPG, ATG2B, ATL1, ATXN3, BCL11B, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BTBD6, C14orf105, C14orf132, C14orf144, C14orf159, C14orf166B, C14orf177, C14orf182, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC88C, CDC42BPB, CDCA4, CDH24, CDKL1, CEP128, CEP170B, CHD8, CHGA, CHMP4A, CINP, CMA1, COCH, COQ6, CPNE6, CTAGE5, CTSG, DAAM1, DACT1, DCAF4, DCAF5, DDHD1, DEGS2, DHRS1, DHRS4L2, DHRS7, DKFZP434O1614, DLGAP5, DLK1, DLST, DNAAF2, DPF3, DYNC1H1, EAPP, EDDM3B, EFCAB11, EFS, ELMSAN1, EML1, EML5, ENTPD5, ERO1L, ESR2, ESRRB, EXOC3L4, FAM161B, FAM181A, FANCM, FBLN5, FBXO34, FERMT2, FLRT2, FLVCR2, FOS, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GOLGA5, GPATCH2L, GPR137C, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27, IGHA1, IGHA2, IGHD, IGHD2-2, IGHE, IGHG1, IGHG3, IGHJ6, IGHM, IGHV1-18, IGHV1-58, IGHV1-69, IGHV2-70, IGHV3-16, IGHV3-30, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-66, IGHV3-73, IGHV4-31, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, KCNH5, KCNK10, KHNYN, KIAA0391, KIAA0586, KIF26A, KLC1, KLHDC1, L2HGDH, L3HYPDH, LGALS3, LGMN, LRFN5, LRRC16B, LRRC9, MAP3K9, MAPK1IP1L, MARK3, MBIP, MDGA2, METTL17, METTL3, MIS18BP1, MLH3, MMP14, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NDUFB1, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NPAS3, NPC2, NRDE2, NRXN3, NUDT14, NUMB, NYNRIN, OR10G3, OR11G2, OR11H4, OR11H7, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K17, OR4K2, OR4L1, OR4M1, OR4N2, OR4Q2, OR4Q3, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OXA1L, PAPLN, PARP2, PAX9, PCK2, PCNX, PCNXL4, PLD4, PLEK2, PLEKHG3, PLEKHH1, PNN, POMT2, PPP1R36, PPP2R5C, PRIMA1, PRKCH, PRKD1, PSME2, PTGDR, PTGR2, PTPN21, PYGL, RABGGTA, RAD51B, RALGAPA1, RBM23, RDH11, REC8, RIN3, RNASE11, RNASE13, RNASE3, RNASE6, RNASE7, RNASE8, RNASE9, RNF31, RP11-1070N10.3, RP11-131H24.4, RP11-176H8.1, RP11-187E13.1, RP11-293M10.1, RP11-80A15.1, RP11-944C7.1, RP11-998D10.1, RPGRIP1, RTL1, RTN1, SALL2, SAMD15, SAMD4A, SCFD1, SDR39U1, SEC23A, SERPINA1, SERPINA10, SERPINA11, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMEK1, SNW1, SNX6, SOS2, SPATA7, SPTB, SPTLC2, STON2, STRN3, STXBP6, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TCL1B, TDRD9, TECPR2, TEP1, TGM1, THTPA, TM9SF1, TMED8, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM55B, TMEM63C, TMX1, TNFAIP2, TOX4, TRAF3, TRAJ13, TRAJ16, TRAJ32, TRAJ36, TRAJ37, TRAV1-1, TRAV13-2, TRAV14DV4, TRAV19, TRAV20, TRAV24, TRAV25, TRAV26-1, TRAV35, TRAV36DV7, TRAV38-1, TRAV6, TRAV8-3, TRAV8-6, TRAV8-7, TRDV2, TRDV3, TRIM9, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UNC79, VASH1, VRK1, VSX2, WARS, WDHD1, WDR20, WDR25, XRCC3, ZBTB42, ZC2HC1C, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410,

+ Genes associated with diseases 80

Genes at Omim

ABCD4, ACTN1, ADSSL1, AK7, AKT1, ANG, APOPT1, ATL1, ATXN3, BCL11B, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, DDHD1, DYNC1H1, EML1, ESR2, ESRRB, FANCM, FBLN5, FLVCR2, FUT8, GALC, GSTZ1, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, NPC2, OSGEP, PAX9, PCK2, POMT2, PRKCH, PRKD1, PTGDR, PYGL, RDH11, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TCL1B, TDRD9, TECPR2, TGM1, TMEM260, TRAF3, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ACTN1 Bleeding disorder, platelet-type, 15, 615193 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
AKT1 Breast cancer, somatic, 114480 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 6, 615109 (3)
{Schizophrenia, susceptibility to}, 181500 (2)
Ovarian cancer, somatic, 167000 (3)
Proteus syndrome, somatic, 176920 (3)
ANG Amyotrophic lateral sclerosis 9, 611895 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BCL11B Immunodeficiency 49, 617237 (3)
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3)
BMP4 Microphthalmia, syndromic 6, 607932 (3)
Orofacial cleft 11, 600625 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DACT1 ?Townes-Brocks syndrome 2, 617466 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1 Band heterotopia, 600348 (3)
ESR2 ?Ovarian dysgenesis 8, 618187 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FANCM ?Premature ovarian failure 15, 618096 (3)
Spermatogenic failure 28, 618086 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IGHM Agammaglobulinemia 1, 601495 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586 Joubert syndrome 23, 616490 (3)
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
MARK3 ?Visual impairment and progressive phthisis bulbi, 618283 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9 Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN ?Seckel syndrome 7, 614851 (3)
NPC2 Niemann-pick disease, type C2, 607625 (3)
OSGEP Galloway-Mowat syndrome 3, 617729 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PRKD1 Congenital heart defects and ectodermal dysplasia, 617364 (3)
PTGDR {Asthma, susceptibility to, 1}, 607277 (3)
PYGL Glycogen storage disease VI, 232700 (3)
RDH11 ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SALL2 ?Coloboma, ocular, autosomal recessive, 216820 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3 Alpha-1-antichymotrypsin deficiency (3)
Cerebrovascular disease, occlusive (3)
SIX1 Branchiootic syndrome 3, 608389 (3)
Deafness, autosomal dominant 23, 605192 (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC24A4 Amelogenesis imperfecta, type IIA5, 615887 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SOS2 Noonan syndrome 9, 616559 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TCL1B Leukemia/lymphoma, T-cell (2)
TDRD9 ?Spermatogenic failure 30, 618110 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TGM1 Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRMT5 Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
TTLL5 Cone-rod dystrophy 19, 615860 (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
ZBTB42 ?Lethal congenital contracture syndrome 6, 616248 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, ACTN1, AKT1, ANG, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FANCM, FBLN5, FLVCR2, GALC, IGHM, INF2, KIAA0586, L2HGDH, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, NPC2, PAX9, POMT2, PYGL, RDH11, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTB, SYNE2, TECPR2, TGM1, TRAF3, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ACTN1 Bleeding disorder, platelet-type, 15
AKT1 Cowden syndrome 6
Proteus syndrome
ANG Amyotrophic lateral sclerosis 9
APOPT1 Mitochondrial complex IV deficiency
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BMP4 Microphthalmia, syndromic 6
Orofacial cleft 11
BRF1 Cerebellofaciodental syndrome
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FANCM Fanconi anemia type M
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
GALC Krabbe disease
IGHM Agammaglobulinemia 1
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586 Joubert syndrome 23
Short rib thoracic dysplasia 14 with polydactyly
L2HGDH L-2-hydroxyglutaric aciduria
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN Seckel syndrome 7
NPC2 Niemann-pick disease, type C2
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL Glycogen storage disease VI
RDH11 Microphthalmia, isolated, with coloboma 10
Retinal dystrophy, juvenile cataracts, and short stature syndrome
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SALL2 Ocular coloboma
SEC23A Craniolenticulosutural dysplasia
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX1 Deafness, autosomal dominant 23
Branchiootorenal syndrome 3
Branchiootic syndrome 3
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SOS2 Noonan syndrome 9
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TECPR2 Spastic paraplegia 49, autosomal recessive
TGM1 Ichthyosis, congenital, autosomal recessive 1
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRMT5 Combined oxidative phosphorylation deficiency 26
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 6104
Number of Genes: 384

Export to: CSV

ABCD4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs3742801
dbSNP Clinvar 		74759006 1019.77 C T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30724 0.31 0.00 None None None None None None ABCD4|0.201608796|36.57%
View myexome-1 annotated mendelmd 14 rs4148078
dbSNP Clinvar 		74759301 2448.77 G T PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.29925 None None None None None None ABCD4|0.201608796|36.57%
View myexome-1 annotated mendelmd 14 rs4148077
dbSNP Clinvar 		74759477 2681.77 C T PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30747 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%
View myexome-1 annotated mendelmd 14 rs2301345
dbSNP Clinvar 		74766352 306.77 A G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.26258 0.26260 0.29902 None None None None None None ABCD4|0.201608796|36.57%
View myexome-1 annotated mendelmd 14 rs3742801
dbSNP Clinvar 		74759006 1019.77 C T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30724 0.31 0.00 None None None None None None ABCD4|0.201608796|36.57%
View myexome-1 annotated mendelmd 14 rs4148078
dbSNP Clinvar 		74759301 2448.77 G T PASS 0/1 172 SYNONYMOUS_CODING LOW None 0.26298 0.26300 0.29925 None None None None None None ABCD4|0.201608796|36.57%
View myexome-1 annotated mendelmd 14 rs4148077
dbSNP Clinvar 		74759477 2681.77 C T PASS 0/1 198 NON_SYNONYMOUS_CODING MODERATE None 0.27037 0.27040 0.30747 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%
View myexome-1 annotated mendelmd 14 rs2301345
dbSNP Clinvar 		74766352 306.77 A G PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.26258 0.26260 0.29902 None None None None None None ABCD4|0.201608796|36.57%

ABHD12B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs28564871
dbSNP Clinvar 		51368610 660.77 A G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.28375 0.28370 0.17772 1.00 0.00 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%
View myexome-1 annotated mendelmd 14 rs28564871
dbSNP Clinvar 		51368610 660.77 A G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.28375 0.28370 0.17772 1.00 0.00 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%

ACIN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs941719
dbSNP Clinvar 		23549379 1880.77 C G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00338 0.00 None None None None None None ACIN1|0.717450786|8.04%
View myexome-1 annotated mendelmd 14 rs941719
dbSNP Clinvar 		23549379 1880.77 C G PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00338 0.00 None None None None None None ACIN1|0.717450786|8.04%

ACOT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs149033118
dbSNP Clinvar 		74041748 258.78 A G MG_SNP_Filter 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 None None None None None None ACOT2|0.010972761|80.08%
View myexome-1 annotated mendelmd 14 rs149033118
dbSNP Clinvar 		74041748 258.78 A G MG_SNP_Filter 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 None None None None None None ACOT2|0.010972761|80.08%

ACOT4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs3742819
dbSNP Clinvar 		74058832 342.77 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs35724886
dbSNP Clinvar 		74060508 819.77 C A PASS 0/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07428 0.07428 0.07022 0.00 1.00 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs373880503
dbSNP Clinvar 		74060511 852.77 T TTCAA PASS 0/1 61 FRAME_SHIFT HIGH None 0.00120 0.00120 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs375801976
dbSNP Clinvar 		74060513 852.77 GCTTA G PASS 0/1 65 FRAME_SHIFT HIGH None 0.07753 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs2010070
dbSNP Clinvar 		74061968 2616.77 T C PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs373880503
dbSNP Clinvar 		74060511 852.77 T TTCAA PASS 0/1 61 FRAME_SHIFT HIGH None 0.00120 0.00120 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs375801976
dbSNP Clinvar 		74060513 852.77 GCTTA G PASS 0/1 65 FRAME_SHIFT HIGH None 0.07753 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs2010070
dbSNP Clinvar 		74061968 2616.77 T C PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs3742819
dbSNP Clinvar 		74058832 342.77 C T PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None ACOT4|0.025540514|71.55%
View myexome-1 annotated mendelmd 14 rs35724886
dbSNP Clinvar 		74060508 819.77 C A PASS 0/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07428 0.07428 0.07022 0.00 1.00 None None None None None None ACOT4|0.025540514|71.55%

ACOT6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs17782052
dbSNP Clinvar 		74086415 1149.77 G A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.02356 0.02356 0.06297 1.00 0.01 None None None None None None ACOT6|0.10045383|51.07%
View myexome-1 annotated mendelmd 14 rs17782052
dbSNP Clinvar 		74086415 1149.77 G A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.02356 0.02356 0.06297 1.00 0.01 None None None None None None ACOT6|0.10045383|51.07%

ACTN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs77499007
dbSNP Clinvar 		69341658 584.77 G A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00719 0.00719 0.01930 0.02 0.60 None None None None None None ACTN1|0.514986607|15.15%
View myexome-1 annotated mendelmd 14 rs77499007
dbSNP Clinvar 		69341658 584.77 G A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00719 0.00719 0.01930 0.02 0.60 None None None None None None ACTN1|0.514986607|15.15%

ACYP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs175499
dbSNP Clinvar 		75535927 257.77 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.33786 0.33790 0.36 0.00 None None None None None None ACYP1|0.151950805|42.69%,ZC2HC1C|0.014803049|77.29%
View myexome-1 annotated mendelmd 14 rs175499
dbSNP Clinvar 		75535927 257.77 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.33786 0.33790 0.36 0.00 None None None None None None ACYP1|0.151950805|42.69%,ZC2HC1C|0.014803049|77.29%

ADAM21
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs3751521
dbSNP Clinvar 		70924249 492.77 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.64836 0.64840 0.37315 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3751523
dbSNP Clinvar 		70924462 134.77 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs8010994
dbSNP Clinvar 		70924501 497.88 C G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3751524
dbSNP Clinvar 		70924507 351.77 A C PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3829452
dbSNP Clinvar 		70924566 355.77 C G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 1.00 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3829453
dbSNP Clinvar 		70924567 355.77 A T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.37021 0.37020 0.07931 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs45480894
dbSNP Clinvar 		70924693 291.77 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.25579 0.25580 0.00662 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs77892318
dbSNP Clinvar 		70924696 322.77 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.25040 0.25040 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs45545935
dbSNP Clinvar 		70924697 322.77 A G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.25040 0.25040 0.36 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs114864695
dbSNP Clinvar 		70924955 2120.77 A C PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.27576 0.27580 0.80 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs12436346
dbSNP Clinvar 		70925257 1084.77 A G MG_SNP_Filter 1/1 33 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs2022624
dbSNP Clinvar 		70925818 144.77 T C MG_SNP_Filter 0/1 179 SYNONYMOUS_CODING LOW None 0.74301 0.74300 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3751521
dbSNP Clinvar 		70924249 492.77 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.64836 0.64840 0.37315 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3751523
dbSNP Clinvar 		70924462 134.77 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs8010994
dbSNP Clinvar 		70924501 497.88 C G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3751524
dbSNP Clinvar 		70924507 351.77 A C PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3829452
dbSNP Clinvar 		70924566 355.77 C G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 1.00 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs3829453
dbSNP Clinvar 		70924567 355.77 A T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.37021 0.37020 0.07931 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs45480894
dbSNP Clinvar 		70924693 291.77 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.25579 0.25580 0.00662 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs77892318
dbSNP Clinvar 		70924696 322.77 G A PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.25040 0.25040 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs45545935
dbSNP Clinvar 		70924697 322.77 A G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.25040 0.25040 0.36 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs114864695
dbSNP Clinvar 		70924955 2120.77 A C PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.27576 0.27580 0.80 0.00 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs12436346
dbSNP Clinvar 		70925257 1084.77 A G MG_SNP_Filter 1/1 33 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View myexome-1 annotated mendelmd 14 rs2022624
dbSNP Clinvar 		70925818 144.77 T C MG_SNP_Filter 0/1 179 SYNONYMOUS_CODING LOW None 0.74301 0.74300 None None None None None None ADAM21|0.009866102|80.97%

ADCK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs3837641,rs779085049,rs3082719
dbSNP Clinvar 		78366933 3416.77 G GAAC PASS 0/1 206 None None None 0.37061 0.37060 None None None None None None ADCK1|0.142961952|44%
View myexome-1 annotated mendelmd 14 rs734654
dbSNP Clinvar 		78366967 3387.77 A G PASS 0/1 277 None None None 0.39177 0.39180 None None None None None None ADCK1|0.142961952|44%
View myexome-1 annotated mendelmd 14 rs3837641,rs779085049,rs3082719
dbSNP Clinvar 		78366933 3416.77 G GAAC PASS 0/1 206 None None None 0.37061 0.37060 None None None None None None ADCK1|0.142961952|44%
View myexome-1 annotated mendelmd 14 rs734654
dbSNP Clinvar 		78366967 3387.77 A G PASS 0/1 277 None None None 0.39177 0.39180 None None None None None None ADCK1|0.142961952|44%
View myexome-1 annotated mendelmd 14 rs2302944
dbSNP Clinvar 		78390880 3972.77 T C PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.23463 0.23460 0.20022 None None None None None None ADCK1|0.142961952|44%
View myexome-1 annotated mendelmd 14 rs2302944
dbSNP Clinvar 		78390880 3972.77 T C PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.23463 0.23460 0.20022 None None None None None None ADCK1|0.142961952|44%

ADSSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs33958252
dbSNP Clinvar 		105196365 381.77 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%
View myexome-1 annotated mendelmd 14 rs33958252
dbSNP Clinvar 		105196365 381.77 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%

AHNAK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 14 rs2582514
dbSNP Clinvar 		105413204 577.77 G T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.56709 0.56710 0.40549 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs55797226
dbSNP Clinvar 		105413223 763.77 A G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.44573 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs367598825
dbSNP Clinvar 		105413319 876.77 G A PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.00719 0.00719 0.00508 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs11848564
dbSNP Clinvar 		105413790 1285.77 G A PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.35044 0.35040 0.48287 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs60754080
dbSNP Clinvar 		105414238 994.77 C A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.48023 0.48020 0.44926 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs60106058
dbSNP Clinvar 		105414252 1126.77 C T PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.45487 0.45490 0.47157 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2819429
dbSNP Clinvar 		105414280 2476.77 T G PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.84325 0.84330 0.10362 0.25 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs72702027
dbSNP Clinvar 		105414629 365.77 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.53195 0.53190 0.43679 0.80 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2582513
dbSNP Clinvar 		105414790 795.77 A G PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.56310 0.56310 0.41529 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs10145032
dbSNP Clinvar 		105414810 983.77 C G PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.53235 0.53230 0.43901 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs10145566
dbSNP Clinvar 		105415200 353.77 G C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.28994 0.28990 0.37128 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs10134675
dbSNP Clinvar 		105415229 197.77 T C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.28230 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs12890949
dbSNP Clinvar 		105415352 2501.77 G C PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00519 0.00519 0.05832 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs117379881
dbSNP Clinvar 		105415745 1116.77 C G PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.27716 0.27720 0.42009 0.88 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs118171013
dbSNP Clinvar 		105415748 1150.77 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.30032 0.30030 0.44101 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2582511
dbSNP Clinvar 		105416010 482.77 T C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.58347 0.58350 0.35749 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2819435
dbSNP Clinvar 		105416220 2604.77 T A PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.07528 0.72180 0.13588 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2013274
dbSNP Clinvar 		105417222 185.77 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.22684 0.22680 0.17072 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2894635
dbSNP Clinvar 		105417225 185.77 C G PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.24281 0.24280 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2248960
dbSNP Clinvar 		105417228 148.77 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.18996 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2819440
dbSNP Clinvar 		105417894 1597.77 C G PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.78355 0.78350 0.18114 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs147978925
dbSNP Clinvar 		105418149 283.77 A T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.23363 0.23360 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs141600524
dbSNP Clinvar 		105418155 328.77 G C PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.08799 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs78116894
dbSNP Clinvar 		105418166 422.77 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.29113 0.29110 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs78447535
dbSNP Clinvar 		105418194 334.77 A G PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.25240 0.25240 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs3000771
dbSNP Clinvar 		105412561 125.77 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs3742935
dbSNP Clinvar 		105405599 1342.77 G C PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41569 0.73 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs28454709
dbSNP Clinvar 		105405942 882.77 G A PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41459 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2819419
dbSNP Clinvar 		105406238 1756.77 A C PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.59086 0.59090 0.38914 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs61421370
dbSNP Clinvar 		105406372 2527.77 C T PASS 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.29313 0.29310 0.42651 0.04 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs11623422
dbSNP Clinvar 		105407031 819.77 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41700 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs11851053
dbSNP Clinvar 		105407208 946.77 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41696 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs4465542
dbSNP Clinvar 		105407798 2342.77 T C PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41678 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs9672139
dbSNP Clinvar 		105408182 279.77 T G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.52756 0.52760 0.44488 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs28600075
dbSNP Clinvar 		105408315 1198.77 T C PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.55551 0.55550 0.41384 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2819421
dbSNP Clinvar 		105408811 973.77 A G PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41776 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs2819422
dbSNP Clinvar 		105408955 970.77 A G PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.39517 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View myexome-1 annotated mendelmd 14 rs10141053
dbSNP Clinvar 		105409907 1118.77 T C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.24581 0.24580 0.37089 0.00 None None None None None None AHNAK2|0.000253171|99.62%