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Genes:
AC007956.1, ACIN1, ACTR10, ACYP1, ADAM21, ADCK1, ADSSL1, AE000662.92, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AL139099.1, AL358333.1, ALKBH1, AP1G2, APEX1, APOPT1, ARHGEF40, ARID4A, ASB2, ASPG, ATG2B, ATL1, ATP5S, ATXN3, BAZ1A, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BTBD6, C14orf105, C14orf132, C14orf144, C14orf166B, C14orf177, C14orf178, C14orf180, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, CATSPERB, CCDC175, CCDC176, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CDCA4, CDKL1, CEP128, CEP170B, CHD8, CHMP4A, CINP, CKB, CMA1, COCH, COQ6, CPNE6, CRIP1, CTAGE5, CTD-2547L24.3, CYP46A1, DACT1, DCAF4, DDHD1, DEGS2, DHRS1, DHRS4, DHRS4-AS1, DHRS4L2, DHRS7, DKFZP434O1614, DLGAP5, DLK1, DLST, DNAAF2, DPF3, EAPP, EDDM3B, EFCAB11, EFS, EML1, ENTPD5, ERO1L, ESR2, ESRRB, EXD2, EXOC3L4, FAM161B, FAM181A, FBLN5, FERMT2, FLRT2, FOXA1, FOXN3, FSCB, FUT8, GALC, GALNT16, GMPR2, GOLGA5, GPATCH2L, GPR132, GPR135, GPR137C, GPR65, GSTZ1, GZMB, GZMH, HEATR4, HEATR5A, HECTD1, HHIPL1, HSP90AA1, IFI27, IGHA1, IGHA2, IGHD, IGHD2-2, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ6, IGHM, IGHV1-18, IGHV1-2, IGHV1-3, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-8, IGHV2-5, IGHV2-70, IGHV3-11, IGHV3-13, IGHV3-20, IGHV3-21, IGHV3-23, IGHV3-30, IGHV3-33, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-49, IGHV3-53, IGHV3-64, IGHV3-66, IGHV3-7, IGHV3-73, IGHV4-28, IGHV4-31, IGHV4-34, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-51, IGHV6-1, IGHV7-81, INF2, INSM2, IPO4, IRF2BPL, ISM2, JAG2, KCNH5, KCNK10, KCNK13, KHNYN, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, L3HYPDH, LGMN, LRFN5, LRR1, LRRC16B, LRRC9, LTBP2, MARK3, MBIP, MDGA2, METTL17, MIA2, MIS18BP1, MLH3, MTA1, MTHFD1, MYH7, NDUFB1, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NOXRED1, NRDE2, NRXN3, NUDT14, OR10G3, OR11G2, OR11H12, OR11H6, OR11H7, OR4E2, OR4K1, OR4K13, OR4K14, OR4K15, OR4K2, OR4L1, OR4M1, OR4N2, OR4Q2, OR4Q3, OR5AU1, OR6J1, OR6S1, OSGEP, OXA1L, PACS2, PAPLN, PAPOLA, PARP2, PAX9, PCK2, PCNX, PCNXL4, PIGH, PLD4, PLEKHH1, PNN, POLE2, POMT2, POTEG, POTEM, PRIMA1, PRKCH, PRKD1, PSME2, PTGR2, RAD51B, RBM23, RCOR1, RDH12, REC8, RGS6, RIN3, RNASE13, RNASE3, RNASE7, RNASE8, RNASE9, RP11-131H24.4, RP11-187E13.1, RP11-80A15.1, RP11-998D10.1, RPGRIP1, RPL36AL, RTL1, RTN1, SALL2, SAMD15, SDR39U1, SEC23A, SERPINA1, SERPINA11, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9, SFTA3, SIPA1L1, SIVA1, SIX1, SIX4, SIX6, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SNW1, SNX6, SOS2, SPATA7, SPTLC2, SSTR1, STON2, STRN3, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TCL1B, TDP1, TDRD9, TECPR2, TEP1, TGM1, TM9SF1, TMED8, TMEM121, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TOX4, TRAJ13, TRAJ16, TRAJ19, TRAJ24, TRAJ32, TRAJ36, TRAJ37, TRAV1-1, TRAV13-1, TRAV14DV4, TRAV20, TRAV21, TRAV23DV6, TRAV26-1, TRAV27, TRAV29DV5, TRAV30, TRAV35, TRAV36DV7, TRAV38-1, TRAV6, TRAV8-2, TRAV8-3, TRAV8-7, TRAV9-2, TRDV2, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TTC5, TTC6, TTC7B, TTC9, TTLL5, UNC79, VASH1, VRK1, VSX2, WARS, WDR25, XRCC3, YLPM1, ZBTB42, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE21, ZFYVE26, ZNF219, ZNF410,

Genes at Omim

ADSSL1, AK7, APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, DDHD1, EML1, ESR2, ESRRB, FBLN5, FUT8, GALC, GSTZ1, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MTHFD1, MYH7, NEK9, NFKBIA, NIN, OSGEP, PACS2, PAX9, PCK2, PIGH, POMT2, PRKCH, PRKD1, RDH12, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SPTLC2, SYNE2, TCL1B, TDP1, TDRD9, TECPR2, TGM1, TMEM260, TRIP11, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFHX2, ZFYVE26,
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (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)
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)
EML1 Band heterotopia, 600348 (3)
ESR2 ?Ovarian dysgenesis 8, 618187 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (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)
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)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (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)
OSGEP Galloway-Mowat syndrome 3, 617729 (3)
PACS2 Epileptic encephalopathy, early infantile, 66, 618067 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
PIGH Glycosylphosphatidylinositol biosynthesis defect 17, 618010 (3)
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)
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)
SOS2 Noonan syndrome 9, 616559 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (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)
TDP1 Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)
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)
TRIP11 Achondrogenesis, type IA, 200600 (3)
Osteochondrodysplasia, 184260 (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)
ZFHX2 ?Marsili syndrome, 147430 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

APOPT1, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, ESRRB, FBLN5, GALC, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MTHFD1, MYH7, NFKBIA, NIN, PAX9, POMT2, RDH12, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SOS2, SPATA7, SYNE2, TDP1, TECPR2, TGM1, TRIP11, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
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
ESRRB Deafness, autosomal recessive 35
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
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
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
MTHFD1 Severe combined immunodeficiency
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
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
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
SOS2 Noonan syndrome 9
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TDP1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
TECPR2 Spastic paraplegia 49, autosomal recessive
TGM1 Ichthyosis, congenital, autosomal recessive 1
TRIP11 Achondrogenesis, type IA
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: 5494
Number of Genes: 388

Export to: CSV

AC007956.1

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 combined sample_67.variant28 14 rs2270424
dbSNP Clinvar
75159007 821.8 G A PASS 0/1 43 STOP_GAINED HIGH None 0.24461 0.24460 None None None None None None AREL1|0.445762843|18.38%
View combined sample_67.variant28 14 rs2270425
dbSNP Clinvar
75179734 1712.17 C G PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.36522 0.36520 1.00 0.00 None None None None None None AREL1|0.445762843|18.38%

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 combined sample_67.variant28 14 rs941719
dbSNP Clinvar
23549379 4217.43 C G PASS 1/1 107 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 combined sample_67.variant28 14 . 23530813 402.54 G A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.92 None None None None None None ACIN1|0.717450786|8.04%
View combined sample_67.variant28 14 rs3811182
dbSNP Clinvar
23549785 1842.62 T C PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.50080 0.50080 0.49300 0.00 None None None None None None ACIN1|0.717450786|8.04%
View combined sample_67.variant28 14 rs3077646
dbSNP Clinvar
23548783 2866.21 A AG... PASS 0/1 170 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38778 0.38780 0.49976 None None None None None None ACIN1|0.717450786|8.04%
View combined sample_67.variant28 14 rs1885097
dbSNP Clinvar
23549319 1164.55 A G PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.42832 0.42830 0.44526 0.00 None None None None None None ACIN1|0.717450786|8.04%

ACTR10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_67.variant28 14 rs17832891
dbSNP Clinvar
58678057 1094.39 G A PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.02935 0.02935 0.02499 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 combined sample_67.variant28 14 rs175499
dbSNP Clinvar
75535927 3975.41 G A PASS 1/1 86 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 combined sample_67.variant28 14 rs8010994
dbSNP Clinvar
70924501 1591.15 C G PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_67.variant28 14 rs3751524
dbSNP Clinvar
70924507 1153.78 A C PASS 1/1 93 SYNONYMOUS_CODING LOW None None None None None None None ADAM21|0.009866102|80.97%
View combined sample_67.variant28 14 rs3751523
dbSNP Clinvar
70924462 1922.08 A G PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_67.variant28 14 rs12436346
dbSNP Clinvar
70925257 1795.25 A G PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%

ADCK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_67.variant28 14 rs34272020
dbSNP Clinvar
78374172 1735.91 C T PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.07648 0.07648 0.11710 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 combined sample_67.variant28 14 rs33958252
dbSNP Clinvar
105196365 951.94 T C PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%
View combined sample_67.variant28 14 rs12894569
dbSNP Clinvar
105207040 957.42 C T PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.07588 0.07588 0.10864 None None None None None None ADSSL1|0.059470498|60.05%
View combined sample_67.variant28 14 rs34672588
dbSNP Clinvar
105196235 536.5 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.53435 0.53430 0.46393 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 combined sample_67.variant28 14 rs12888861
dbSNP Clinvar
23025932 387.63 A T PASS 0/1 23 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 combined sample_67.variant28 14 rs28714612
dbSNP Clinvar
105412009 437.98 A G PASS 0/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.38518 0.38520 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs879209
dbSNP Clinvar
105421050 1571.76 T G PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.30970 0.30970 0.41829 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs879210
dbSNP Clinvar
105420927 2700.92 A G PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.31470 0.31470 0.42521 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs113464551
dbSNP Clinvar
105419727 3191.86 C T PASS 0/1 331 SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.01049 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs11625007
dbSNP Clinvar
105418391 10490.8 C T PASS 0/1 572 NON_SYNONYMOUS_CODING MODERATE None 0.48587 0.05 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs55791176
dbSNP Clinvar
105418344 9792.25 T G PASS 0/1 540 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.48995 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs55650155
dbSNP Clinvar
105418264 6392.05 G A PASS 0/1 409 NON_SYNONYMOUS_CODING MODERATE None 0.38299 0.38300 0.42877 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs56330864
dbSNP Clinvar
105418260 8886.49 T A PASS 0/1 406 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.41918 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs78447535
dbSNP Clinvar
105418194 2030.17 A G PASS 0/1 320 SYNONYMOUS_CODING LOW None 0.25240 0.25240 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs78116894
dbSNP Clinvar
105418166 1254.21 T C PASS 0/1 295 NON_SYNONYMOUS_CODING MODERATE None 0.29113 0.29110 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs141600524
dbSNP Clinvar
105418155 626.59 G C PASS 0/1 280 SYNONYMOUS_CODING LOW None 0.08799 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs147978925
dbSNP Clinvar
105418149 228.86 A T PASS 0/1 272 SYNONYMOUS_CODING LOW None 0.23363 0.23360 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2819440
dbSNP Clinvar
105417894 8128.96 C G PASS 1/1 199 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 combined sample_67.variant28 14 rs76453246
dbSNP Clinvar
105417285 1013.29 C T PASS 0/1 273 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.12724 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs77111827
dbSNP Clinvar
105417243 4021.77 T C,G PASS 0/1 323 SYNONYMOUS_CODING LOW None 0.01338 0.24120 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2248960
dbSNP Clinvar
105417228 5539.76 C T PASS 0/1 352 SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.18996 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2894635
dbSNP Clinvar
105417225 5699.25 C G PASS 0/1 358 SYNONYMOUS_CODING LOW None 0.24281 0.24280 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2013274
dbSNP Clinvar
105417222 5748.13 C T PASS 0/1 370 SYNONYMOUS_CODING LOW None 0.22684 0.22680 0.17072 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2013445
dbSNP Clinvar
105417147 9492.13 A G PASS 0/1 516 SYNONYMOUS_CODING LOW None 0.42911 0.42910 0.46916 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs61996045
dbSNP Clinvar
105417103 17652.8 G A PASS 0/1 494 NON_SYNONYMOUS_CODING MODERATE None 0.28155 0.28150 0.41613 0.10 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2248966
dbSNP Clinvar
105417102 17652.8 T C PASS 0/1 495 SYNONYMOUS_CODING LOW None 0.55611 0.55610 0.39060 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2013462
dbSNP Clinvar
105416959 6385.93 A G PASS 0/1 304 NON_SYNONYMOUS_CODING MODERATE None 0.56889 0.56890 0.39068 0.04 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2582506
dbSNP Clinvar
105416685 13258.2 C G PASS 0/1 560 SYNONYMOUS_CODING LOW None 0.00220 0.00220 0.30909 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs28593209
dbSNP Clinvar
105416649 12208.8 G A PASS 0/1 527 SYNONYMOUS_CODING LOW None 0.27696 0.27700 0.41438 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2819435
dbSNP Clinvar
105416220 14618.9 T A,G PASS 1/1 646 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 combined sample_67.variant28 14 rs2582511
dbSNP Clinvar
105416010 12007.7 T C PASS 0/1 445 SYNONYMOUS_CODING LOW None 0.58347 0.58350 0.35749 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs200936018
dbSNP Clinvar
105415752 5794.05 A T PASS 0/1 326 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00358 0.70 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs118171013
dbSNP Clinvar
105415748 8758.88 G A PASS 0/1 324 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 combined sample_67.variant28 14 rs117379881
dbSNP Clinvar
105415745 8698.12 C G PASS 0/1 323 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 combined sample_67.variant28 14 rs12890949
dbSNP Clinvar
105415352 10804.2 G C PASS 1/1 273 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 combined sample_67.variant28 14 rs146449084
dbSNP Clinvar
105415281 993.11 G C PASS 0/1 269 SYNONYMOUS_CODING LOW None 0.12660 0.12660 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs201127689
dbSNP Clinvar
105415279 996.12 T C PASS 0/1 272 NON_SYNONYMOUS_CODING MODERATE None 0.12620 0.12620 0.19 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs10134675
dbSNP Clinvar
105415229 4211.63 T C PASS 0/1 349 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.28230 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs10145566
dbSNP Clinvar
105415200 5757.98 G C PASS 0/1 405 SYNONYMOUS_CODING LOW None 0.28994 0.28990 0.37128 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs10145032
dbSNP Clinvar
105414810 13822.4 C G PASS 0/1 546 SYNONYMOUS_CODING LOW None 0.53235 0.53230 0.43901 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2582513
dbSNP Clinvar
105414790 13427.1 A G PASS 0/1 531 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 combined sample_67.variant28 14 rs72702027
dbSNP Clinvar
105414629 10500.9 G A PASS 0/1 573 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 combined sample_67.variant28 14 rs2819429
dbSNP Clinvar
105414280 10224.5 T G PASS 1/1 434 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 combined sample_67.variant28 14 rs60106058
dbSNP Clinvar
105414252 13405.9 C T PASS 0/1 489 SYNONYMOUS_CODING LOW None 0.45487 0.45490 0.47157 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs60754080
dbSNP Clinvar
105414238 14029.5 C A PASS 0/1 491 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 combined sample_67.variant28 14 rs11848564
dbSNP Clinvar
105413790 6821.31 G A PASS 0/1 447 SYNONYMOUS_CODING LOW None 0.35044 0.35040 0.48287 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs55797226
dbSNP Clinvar
105413223 12042.0 A G PASS 0/1 507 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.44573 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2582514
dbSNP Clinvar
105413204 12070.1 G T PASS 0/1 503 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 combined sample_67.variant28 14 rs3000771
dbSNP Clinvar
105412561 5607.96 C T PASS 0/1 316 NON_SYNONYMOUS_CODING MODERATE None 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs12436986
dbSNP Clinvar
105412554 5393.39 T G PASS 0/1 304 SYNONYMOUS_CODING LOW None 0.51498 0.51500 0.29044 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs12433815
dbSNP Clinvar
105412542 5013.42 A G PASS 0/1 302 SYNONYMOUS_CODING LOW None 0.51757 0.51760 0.26062 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs12433837
dbSNP Clinvar
105412541 4971.43 C T PASS 0/1 304 NON_SYNONYMOUS_CODING MODERATE None 0.51857 0.51860 0.26354 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs3742935
dbSNP Clinvar
105405599 1522.13 G C PASS 0/1 127 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 combined sample_67.variant28 14 rs28454709
dbSNP Clinvar
105405942 2598.63 G A PASS 0/1 181 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41459 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2819419
dbSNP Clinvar
105406238 2577.19 A C PASS 0/1 144 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 combined sample_67.variant28 14 rs61421370
dbSNP Clinvar
105406372 2152.87 C T PASS 0/1 129 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 combined sample_67.variant28 14 rs11623422
dbSNP Clinvar
105407031 1810.8 A G PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41700 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs11851053
dbSNP Clinvar
105407208 1028.78 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 combined sample_67.variant28 14 rs4465542
dbSNP Clinvar
105407798 1886.5 T C PASS 0/1 142 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 combined sample_67.variant28 14 rs9671643
dbSNP Clinvar
105408030 8417.82 A G PASS 0/1 434 SYNONYMOUS_CODING LOW None 0.55551 0.55550 0.41507 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs9672139
dbSNP Clinvar
105408182 9177.76 T G PASS 0/1 506 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 combined sample_67.variant28 14 rs28600075
dbSNP Clinvar
105408315 7623.29 T C PASS 0/1 465 SYNONYMOUS_CODING LOW None 0.55551 0.55550 0.41384 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2819421
dbSNP Clinvar
105408811 13191.3 A G PASS 0/1 538 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 combined sample_67.variant28 14 rs11850949
dbSNP Clinvar
105408827 13859.6 A C PASS 0/1 533 NON_SYNONYMOUS_CODING MODERATE None 0.53075 0.53080 0.43830 0.05 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2819422
dbSNP Clinvar
105408955 9909.74 A G PASS 0/1 534 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 combined sample_67.variant28 14 rs10141053
dbSNP Clinvar
105409907 7724.37 T C PASS 0/1 428 NON_SYNONYMOUS_CODING MODERATE None 0.24581 0.24580 0.37089 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs10438246
dbSNP Clinvar
105410183 8241.56 T C PASS 0/1 458 NON_SYNONYMOUS_CODING MODERATE None 0.55591 0.55590 0.41195 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs11160825
dbSNP Clinvar
105410411 8750.78 C T PASS 0/1 590 NON_SYNONYMOUS_CODING MODERATE None 0.54972 0.54970 0.41916 0.98 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs2819424
dbSNP Clinvar
105410775 10301.8 A G PASS 0/1 603 SYNONYMOUS_CODING LOW None 0.58586 0.58590 0.39270 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs28380382
dbSNP Clinvar
105410827 9991.56 C T PASS 0/1 582 NON_SYNONYMOUS_CODING MODERATE None 0.55252 0.55250 0.41489 1.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs34499888
dbSNP Clinvar
105411153 8133.29 G A PASS 0/1 449 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.37356 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs4264326
dbSNP Clinvar
105411700 9664.73 A G PASS 0/1 573 NON_SYNONYMOUS_CODING MODERATE None 0.56350 0.56350 0.40369 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs10438247
dbSNP Clinvar
105411781 9153.68 G A PASS 0/1 550 NON_SYNONYMOUS_CODING MODERATE None 0.53854 0.53850 0.42047 1.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs373797895
dbSNP Clinvar
105411957 1472.68 G A PASS 0/1 258 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs28737397
dbSNP Clinvar
105411971 1241.64 T C PASS 0/1 251 NON_SYNONYMOUS_CODING MODERATE None 0.26158 0.26160 0.04490 0.28 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs28564728
dbSNP Clinvar
105412005 420.73 A G PASS 0/1 196 SYNONYMOUS_CODING LOW None 0.37280 0.37280 0.27296 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_67.variant28 14 rs77154428
dbSNP Clinvar
105412066 314.9 C T PASS 0/1 178 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.01 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 combined sample_67.variant28 14 rs7250
dbSNP Clinvar
77935520 1343.92 G A PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.47943 0.47940 0.40112 None None None None None None AHSA1|0.497086001|15.98%
View combined sample_67.variant28 14 rs5809831
dbSNP Clinvar
77935239 328.05 T TG PASS 0/1 19 None None None 0.47943 0.47940 None None None None None None AHSA1|0.497086001|15.98%
View combined sample_67.variant28 14 rs1061638
dbSNP Clinvar
77928525 3453.47 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.62380 0.62380 0.40228 None None None None None None AHSA1|0.497086001|15.98%
View combined sample_67.variant28 14 rs1061629
dbSNP Clinvar
77926011 2012.86 C T PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.47444 0.47440 0.39497 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 combined sample_67.variant28 14 rs76293597
dbSNP Clinvar
96944878 3134.28 G A PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.04613 0.04613 0.03875 None None None None None None AK7|0.025423977|71.6%
View combined sample_67.variant28 14 rs2275554
dbSNP Clinvar
96871104 704.92 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.21346 0.21350 0.24604 0.11 0.04 None None None None None None AK7|0.025423977|71.6%
View combined sample_67.variant28 14 rs2369679
dbSNP Clinvar
96922752 3012.09 C G PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.88459 0.88460 0.12940 1.00 0.00 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 combined sample_67.variant28 14 rs1256149
dbSNP Clinvar
64935720 1883.72 C T PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.98383 0.98380 0.00008 1.00 0.00 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 combined sample_67.variant28 14 rs7150894
dbSNP Clinvar
33015014 1295.86 G A PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.72863 0.72860 0.25211 None None None None None None AKAP6|0.906075509|3.33%
View combined sample_67.variant28 14 rs1950703
dbSNP Clinvar
33046388 3895.53 A G PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.86641 0.86640 0.18937 None None None None None None AKAP6|0.906075509|3.33%