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Genes:
ABCD4, AC005477.1, ACIN1, ACOT2, ACOT4, ACTR10, ACYP1, ADAM21, ADCK1, ADCY4, ADSSL1, AE000662.92, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AL133373.1, AL139099.1, ANG, APEX1, APOPT1, AREL1, ARHGEF40, ARID4A, ASB2, ASPG, ATG14, ATG2B, ATP5S, ATXN3, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, BTBD7, C14orf105, C14orf132, C14orf144, C14orf159, C14orf166B, C14orf180, C14orf182, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, C14orf93, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDC42BPB, CDCA4, CDKL1, CEP128, CEP170B, CGRRF1, CHD8, CHGA, CHMP4A, CKB, CLMN, CMA1, CMTM5, COCH, COQ6, CPNE6, CTAGE5, CTD-2547L24.3, DAAM1, DACT1, DCAF11, DCAF4, DDHD1, DEGS2, DHRS4L2, DHRS7, DIO2, DLGAP5, DLK1, DNAAF2, DPF3, DYNC1H1, EDDM3A, EDDM3B, EFCAB11, EFS, EIF5, ELMSAN1, EML1, ENTPD5, ERO1L, ESR2, ESRRB, EXD2, EXOC3L4, FAM161B, FAM177A1, FAM181A, FANCM, FBLN5, FBXO34, FERMT2, FLRT2, FOS, FOXA1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GMPR2, GNG2, GOLGA5, GPATCH2L, GPR135, GPR137C, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, HSPA2, IFI27L1, IFT43, IGHA1, IGHA2, IGHD, IGHD2-2, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-3, IGHV1-45, IGHV1-58, IGHV1-69, IGHV1-8, IGHV2-5, IGHV2-70, IGHV3-11, IGHV3-13, IGHV3-16, IGHV3-20, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-53, IGHV3-64, IGHV3-66, IGHV3-7, IGHV3-9, IGHV4-28, IGHV4-31, IGHV4-4, IGHV4-61, IGHV5-51, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, JDP2, KCNH5, KCNK13, KHNYN, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, L3HYPDH, LGALS3, LGMN, LRFN5, LRP10, LRRC16B, LRRC9, LTB4R, LTBP2, MAP3K9, MAP4K5, MARK3, MBIP, MDGA2, MIA2, MIS18BP1, MLH3, MMP14, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NDUFB1, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NPAS3, NPC2, NRDE2, NRXN3, NUDT14, NYNRIN, OR10G3, OR11G2, OR11H6, OR11H7, OR4K1, OR4K14, OR4K15, OR4K17, OR4K2, OR4L1, OR4M1, OR4N2, OR4Q2, OR4Q3, OR5AU1, OR6S1, OSGEP, OTUB2, OXA1L, PAPLN, PAX9, PCK2, PCNX, PCNXL4, PLD4, PLEKHD1, PLEKHG3, PLEKHH1, PNN, POMT2, POTEG, PPP1R13B, PPP1R36, PRIMA1, PRKCH, PRKD1, PSMA6, PSMB11, PSMB5, PSMC1, PSME2, PTGDR, PTGR2, PYGL, RAB2B, RABGGTA, RAD51B, RALGAPA1, RBM23, RDH12, REC8, RGS6, RIN3, RNASE11, RNASE4, RNASE6, RNASE7, RNASE8, RNASE9, RP11-187E13.1, RP11-80A15.1, RPGRIP1, RPS6KL1, RTN1, SALL2, SAMD15, SDR39U1, SEC23A, SERPINA1, SERPINA10, SERPINA11, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC22A17, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMOC1, SNAPC1, SNW1, SNX6, SOS2, SPATA7, SPTB, SPTLC2, STON2, STRN3, SUPT16H, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TCL1B, TDRD9, TECPR2, TEP1, TMED8, TMEM121, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM55B, TMEM63C, TMX1, TNFAIP2, TOX4, TPPP2, TRAC, TRAF3, TRAJ13, TRAJ16, TRAJ19, TRAJ32, TRAJ36, TRAJ37, TRAJ57, TRAV1-1, TRAV12-2, TRAV13-1, TRAV14DV4, TRAV20, TRAV23DV6, TRAV35, TRAV36DV7, TRAV6, TRAV8-3, TRAV8-4, TRAV8-6, TRAV8-7, TRAV9-2, TRDJ2, TRIM9, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UNC79, VASH1, VCPKMT, VRK1, VRTN, VSX2, WARS, WDR20, WDR25, XRCC3, YLPM1, ZBTB42, ZC2HC1C, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF839,

Genes at Omim

ABCD4, ADSSL1, AK7, ANG, APOPT1, ATXN3, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, DDHD1, DYNC1H1, EML1, ESR2, ESRRB, FANCM, FBLN5, FUT8, GALC, GSTZ1, IFT43, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, NPC2, OSGEP, PAX9, PCK2, POMT2, PRKCH, PRKD1, PSMA6, PTGDR, PYGL, RDH12, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TCL1B, TDRD9, TECPR2, TMEM260, TRAC, TRAF3, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
ANG Amyotrophic lateral sclerosis 9, 611895 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (3)
ATXN3 Machado-Joseph disease, 109150 (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)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43 ?Cranioectodermal dysplasia 3, 614099 (3)
?Retinitis pigmentosa 81, 617871 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
IGHG2 IgG2 deficiency, selective (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)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (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)
PSMA6 {Myocardial infarction, susceptibility to}, 608446 (3)
PTGDR {Asthma, susceptibility to, 1}, 607277 (3)
PYGL Glycogen storage disease VI, 232700 (3)
RDH12 Leber congenital amaurosis 13, 612712 (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)
SMOC1 Microphthalmia with limb anomalies, 206920 (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)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAC Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (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, ANG, APOPT1, ATXN3, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FANCM, FBLN5, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, NPC2, PAX9, POMT2, PYGL, RDH12, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SYNE2, TECPR2, TRAC, TRAF3, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
ANG Amyotrophic lateral sclerosis 9
APOPT1 Mitochondrial complex IV deficiency
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
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
GALC Krabbe disease
IFT43 Cranioectodermal dysplasia 3
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
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
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
RDH12 Leber congenital amaurosis 13
Retinitis pigmentosa 53
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
SMOC1 Microphthalmia with limb anomalies
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
TRAC T-cell receptor-alpha/beta deficiency
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: 3032
Number of Genes: 409

Export to: CSV

ABCD4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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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.SAMTOOLS 14 rs574817590
dbSNP Clinvar
74766953 1053.77 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.00060 0.00060 None None None None None None ABCD4|0.201608796|36.57%

AC005477.1

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.SAMTOOLS 14 rs2238275
dbSNP Clinvar
72457365 1473.77 T G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.12161 0.12160 0.50 None None None None None None RGS6|0.590032694|12.13%

ACIN1

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.SAMTOOLS 14 . 23548787 3888.73 CG... CG... PASS 1/1 78 CODON_INSERTION MODERATE None None None None None None None ACIN1|0.717450786|8.04%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs941719
dbSNP Clinvar
23549379 5329.77 C G PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00338 1.00 0.00 1.54 None None None None None None ACIN1|0.717450786|8.04%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1885097
dbSNP Clinvar
23549319 4333.77 A G PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.42832 0.42830 0.44526 0.13 0.00 0.34 None None None None None None ACIN1|0.717450786|8.04%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs60168438
dbSNP Clinvar
23530622 2771.77 T C PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.24501 0.24500 0.25119 None None None None None None ACIN1|0.717450786|8.04%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3811182
dbSNP Clinvar
23549785 1162.77 T C PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.50080 0.50080 0.49300 0.54 0.00 -2.51 None None None None None None ACIN1|0.717450786|8.04%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1885098
dbSNP Clinvar
23549380 5329.77 G A PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.00040 0.10520 0.00277 None None None None None None ACIN1|0.717450786|8.04%

ACOT2

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.SAMTOOLS 14 rs7494
dbSNP Clinvar
74042189 72.98 A G PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 -1.55 None None None None None None ACOT2|0.010972761|80.08%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs149033118
dbSNP Clinvar
74041748 2001.85 A G PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 -2.23 None None None None None None ACOT2|0.010972761|80.08%

ACOT4

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.SAMTOOLS 14 rs2010070
dbSNP Clinvar
74061968 7009.77 T C PASS 1/1 193 SYNONYMOUS_CODING LOW None 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%

ACTR10

Omim - GeneCards - NCBI
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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.SAMTOOLS 14 . 58697795 241.73 CAGT CA... PASS 0/1 12 None None None None None None None None None C14orf37|0.012467911|78.91%,ACTR10|0.530308719|14.58%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs175499
dbSNP Clinvar
75535927 810.77 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.33786 0.33790 0.36 0.00 0.46 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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12436346
dbSNP Clinvar
70925257 888.12 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3829455
dbSNP Clinvar
70924852 1402.47 A C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.44070 0.44070 0.36028 None None None None None None ADAM21|0.009866102|80.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs8010994
dbSNP Clinvar
70924501 1568.27 C G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 -0.77 None None None None None None ADAM21|0.009866102|80.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3751523
dbSNP Clinvar
70924462 3478.77 A G PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3751521
dbSNP Clinvar
70924249 964.25 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.64836 0.64840 0.37315 None None None None None None ADAM21|0.009866102|80.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2022624
dbSNP Clinvar
70925818 2696.56 T C PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.74301 0.74300 None None None None None None ADAM21|0.009866102|80.97%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3751520
dbSNP Clinvar
70924237 1081.22 C A PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.37460 0.37460 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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs734654
dbSNP Clinvar
78366967 1549.77 A G PASS 1/1 44 None None None 0.39177 0.39180 None None None None None None ADCK1|0.142961952|44%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 78366933 1238.52 GA... GA... PASS 0/1 31 None None None None None None None None None ADCK1|0.142961952|44%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2302944
dbSNP Clinvar
78390880 714.77 T C PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.23463 0.23460 0.20022 None None None None None None ADCK1|0.142961952|44%

ADCY4

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.SAMTOOLS 14 rs3181252
dbSNP Clinvar
24802018 1376.77 G A PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.09904 0.09904 0.00260 3.01 None None None None None None ADCY4|0.342968344|24.64%

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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs33958252
dbSNP Clinvar
105196365 1250.77 T C PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs34672588
dbSNP Clinvar
105196235 572.02 G A PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.53435 0.53430 0.46393 None None None None None None ADSSL1|0.059470498|60.05%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs150115019
dbSNP Clinvar
105207528 2208.77 C G PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.00899 0.00899 0.00077 None None None None None None ADSSL1|0.059470498|60.05%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs138449071
dbSNP Clinvar
105207555 1356.77 C T PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.00938 0.00939 0.00092 None None None None None None ADSSL1|0.059470498|60.05%

AE000662.92

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.SAMTOOLS 14 rs12888861
dbSNP Clinvar
23025932 788.77 A T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.62840 0.62840 None None None None None None None

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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2819422
dbSNP Clinvar
105408955 3052.77 A G PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.39517 0.45 0.01 -2.43 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs879209
dbSNP Clinvar
105421050 1912.77 T G PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.41829 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs879210
dbSNP Clinvar
105420927 1724.77 A G PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.31470 0.31470 0.42521 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11625007
dbSNP Clinvar
105418391 4355.77 C T PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.48587 1.00 0.01 -2.00 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs55791176
dbSNP Clinvar
105418344 4774.77 T G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.48995 1.00 0.00 -3.04 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs55650155
dbSNP Clinvar
105418264 3536.77 G A PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.38299 0.38300 0.42877 1.00 0.00 0.31 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs56330864
dbSNP Clinvar
105418260 3463.77 T A PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.41918 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs78447535
dbSNP Clinvar
105418194 2841.77 A G PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.25240 0.25240 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs78116894
dbSNP Clinvar
105418166 1109.14 T C PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.29113 0.29110 0.42 0.06 -2.75 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs141600524
dbSNP Clinvar
105418155 701.59 G C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.08799 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs370977312
dbSNP Clinvar
105417855 101.84 G C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.02236 0.02236 1.00 0.00 -0.61 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs76231332
dbSNP Clinvar
105417837 657.77 A G PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.26398 0.26400 0.15380 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2013445
dbSNP Clinvar
105417147 2859.77 A G PASS 0/1 295 SYNONYMOUS_CODING LOW None 0.42911 0.42910 0.46916 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs61996045
dbSNP Clinvar
105417103 4447.77 G A PASS 0/1 238 NON_SYNONYMOUS_CODING MODERATE None 0.28155 0.28150 0.41613 0.11 0.66 -0.09 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2248966
dbSNP Clinvar
105417102 4447.77 T C PASS 0/1 234 SYNONYMOUS_CODING LOW None 0.55611 0.55610 0.39060 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs118171013
dbSNP Clinvar
105415748 2728.77 G A PASS 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.30032 0.30030 0.44101 1.00 0.00 -2.60 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs117379881
dbSNP Clinvar
105415745 198.0 C G PASS 0/1 216 NON_SYNONYMOUS_CODING MODERATE None 0.27716 0.27720 0.42009 0.31 0.95 1.49 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12890949
dbSNP Clinvar
105415352 4174.77 G C PASS 1/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.00519 0.00519 0.05832 1.00 0.00 -2.13 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10134675
dbSNP Clinvar
105415229 1875.08 T C PASS 0/1 195 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.28230 1.00 0.01 -2.92 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10145566
dbSNP Clinvar
105415200 1926.77 G C PASS 0/1 209 SYNONYMOUS_CODING LOW None 0.28994 0.28990 0.37128 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10145032
dbSNP Clinvar
105414810 2992.77 C G PASS 0/1 275 SYNONYMOUS_CODING LOW None 0.53235 0.53230 0.43901 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2582513
dbSNP Clinvar
105414790 2883.77 A G PASS 0/1 254 NON_SYNONYMOUS_CODING MODERATE None 0.56310 0.56310 0.41529 1.00 0.00 -1.05 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs72702027
dbSNP Clinvar
105414629 3595.77 G A PASS 0/1 241 NON_SYNONYMOUS_CODING MODERATE None 0.53195 0.53190 0.43679 0.07 0.71 2.98 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12436986
dbSNP Clinvar
105412554 1341.77 T G PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.51498 0.51500 0.29044 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12433815
dbSNP Clinvar
105412542 942.77 A G PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.51757 0.51760 0.26062 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs12433837
dbSNP Clinvar
105412541 798.77 C T PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.51857 0.51860 0.26354 1.00 0.12 -2.89 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs77154428
dbSNP Clinvar
105412066 1686.77 C T PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00 0.05 2.19 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs28714612
dbSNP Clinvar
105412009 797.77 A G PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.38518 0.38520 0.21 0.00 -2.27 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs28564728
dbSNP Clinvar
105412005 897.77 A G PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.37280 0.37280 0.27296 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs28737397
dbSNP Clinvar
105411971 1214.77 T C PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.26158 0.26160 0.04490 0.20 0.03 -0.50 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs373797895
dbSNP Clinvar
105411957 1411.77 G A PASS 0/1 130 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10438247
dbSNP Clinvar
105411781 3409.77 G A PASS 0/1 272 NON_SYNONYMOUS_CODING MODERATE None 0.53854 0.53850 0.42047 0.00 0.91 4.76 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs4264326
dbSNP Clinvar
105411700 2659.77 A G PASS 0/1 267 NON_SYNONYMOUS_CODING MODERATE None 0.56350 0.56350 0.40369 1.00 0.00 -1.16 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs28380382
dbSNP Clinvar
105410827 3375.77 C T PASS 0/1 275 NON_SYNONYMOUS_CODING MODERATE None 0.55252 0.55250 0.41489 0.06 0.16 3.58 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2819424
dbSNP Clinvar
105410775 2709.77 A G PASS 0/1 314 SYNONYMOUS_CODING LOW None 0.58586 0.58590 0.39270 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11160825
dbSNP Clinvar
105410411 2869.77 C T PASS 0/1 212 NON_SYNONYMOUS_CODING MODERATE None 0.54972 0.54970 0.41916 0.10 0.13 2.73 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs10438246
dbSNP Clinvar
105410183 3676.77 T C PASS 0/1 251 NON_SYNONYMOUS_CODING MODERATE None 0.55591 0.55590 0.41195 1.00 0.00 -3.03 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs28600075
dbSNP Clinvar
105408315 4052.77 T C PASS 0/1 274 SYNONYMOUS_CODING LOW None 0.55551 0.55550 0.41384 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs9672139
dbSNP Clinvar
105408182 3431.77 T G PASS 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.52756 0.52760 0.44488 1.00 0.02 -2.43 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs4465542
dbSNP Clinvar
105407798 1429.77 T C PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41678 0.99 0.00 -1.62 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11851053
dbSNP Clinvar
105407208 1784.77 T C PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41696 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11623422
dbSNP Clinvar
105407031 3422.77 A G PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41700 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs61421370
dbSNP Clinvar
105406372 3808.77 C T PASS 0/1 215 NON_SYNONYMOUS_CODING MODERATE None 0.29313 0.29310 0.42651 0.65 0.06 0.38 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3742935
dbSNP Clinvar
105405599 1375.77 G C PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41569 0.02 0.67 4.64 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs200712744
dbSNP Clinvar
105405243 1887.77 C T PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.00067 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs3000771
dbSNP Clinvar
105412561 942.77 C T PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.03 0.68 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs28454709
dbSNP Clinvar
105405942 2404.77 G A PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41459 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2819419
dbSNP Clinvar
105406238 2431.77 A C PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.59086 0.59090 0.38914 0.67 0.00 -1.08 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs11848564
dbSNP Clinvar
105413790 2622.77 G A PASS 0/1 216 SYNONYMOUS_CODING LOW None 0.35044 0.35040 0.48287 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs60106058
dbSNP Clinvar
105414252 2890.77 C T PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.45487 0.45490 0.47157 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs60754080
dbSNP Clinvar
105414238 2843.77 C A PASS 0/1 222 NON_SYNONYMOUS_CODING MODERATE None 0.48023 0.48020 0.44926 1.00 0.00 -0.47 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2582514
dbSNP Clinvar
105413204 3621.77 G T PASS 0/1 251 NON_SYNONYMOUS_CODING MODERATE None 0.56709 0.56710 0.40549 1.00 0.00 -0.15 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs55797226
dbSNP Clinvar
105413223 3974.77 A G PASS 0/1 247 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.44573 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2819429
dbSNP Clinvar
105414280 6503.77 T G PASS 1/1 191 NON_SYNONYMOUS_CODING MODERATE None 0.84325 0.84330 0.10362 0.04 0.17 -0.08 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2582511
dbSNP Clinvar
105416010 3384.77 T C PASS 0/1 199 SYNONYMOUS_CODING LOW None 0.58347 0.58350 0.35749 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2819435
dbSNP Clinvar
105416220 8674.77 T A PASS 1/1 299 NON_SYNONYMOUS_CODING MODERATE None 0.07528 0.72180 0.13588 1.00 0.00 -3.50 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2582506
dbSNP Clinvar
105416685 3313.77 C G PASS 0/1 286 SYNONYMOUS_CODING LOW None 0.00220 0.00220 0.30909 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs28593209
dbSNP Clinvar
105416649 3307.77 G A PASS 0/1 305 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.41438 None None None None None None AHNAK2|0.000253171|99.62%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2013462
dbSNP Clinvar
105416959 2580.77 A G PASS 0/1 211 NON_SYNONYMOUS_CODING MODERATE None 0.56889 0.56890 0.39068 1.00 0.00 -1.63 None None None None None None AHNAK2|0.000253171|99.62%

AHSA1

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.SAMTOOLS 14 rs1061629
dbSNP Clinvar
77926011 738.77 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.47444 0.47440 0.39497 None None None None None None AHSA1|0.497086001|15.98%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1061638
dbSNP Clinvar
77928525 857.77 A G PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.62380 0.62380 0.40228 None None None None None None AHSA1|0.497086001|15.98%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs7250
dbSNP Clinvar
77935520 1209.77 G A PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.47943 0.47940 0.40112 None None None None None None AHSA1|0.497086001|15.98%

AK7

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.SAMTOOLS 14 rs2369679
dbSNP Clinvar
96922752 1182.77 C G PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.88459 0.88460 0.12940 1.00 0.00 -0.83 None None None None None None AK7|0.025423977|71.6%

AKAP5

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.SAMTOOLS 14 rs1256149
dbSNP Clinvar
64935720 2161.77 C T PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.98383 0.98380 0.00008 1.00 0.00 -1.04 None None None None None None ZBTB25|0.303467452|27.4%,AKAP5|0.028809341|70%

AKAP6

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.SAMTOOLS 14 rs4647899
dbSNP Clinvar
33293531 2128.77 T A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.26837 0.26840 0.26165 0.31 0.01 1.47 None None None None None None AKAP6|0.906075509|3.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs7150894
dbSNP Clinvar
33015014 955.77 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.72863 0.72860 0.25211 None None None None None None AKAP6|0.906075509|3.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1950703
dbSNP Clinvar
33046388 1090.77 A G PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.86641 0.86640 0.18937 None None None None None None AKAP6|0.906075509|3.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs2239647
dbSNP Clinvar
33292743 1697.77 A C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.71126 0.71130 0.34938 None None None None None None AKAP6|0.906075509|3.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1051694
dbSNP Clinvar
33293022 591.77 A G PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.15395 0.15400 0.14355 None None None None None None AKAP6|0.906075509|3.33%
View 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 rs1051695
dbSNP Clinvar
33293122 2102.77 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.71026 0.71030 0.36060 0.81 0.00 -0.37 None None None None None None AKAP6|0.906075509|3.33%

AL133373.1

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 62388010_s7 mvar 62388010_S7.SAMTOOLS 14 . 92040589 841.73 TCC TC PASS 0/1 44 FRAME_SHIFT HIGH None None None None None None None None