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Genes:
ABHD15, AC025287.1, ACBD5, ACSM4, AGPAT5, AHDC1, AMN, ANKRD36C, ANKRD52, AOC3, AP1B1, AP4E1, ARFGAP2, ARID1B, ARMS2, ARSD, ARSJ, ASZ1, B3GALT1, BAIAP2L2, BANK1, BAZ2B, BDP1, BIRC3, BMP2K, BPIFB2, C10orf76, C5orf20, C5orf27, C5orf38, C9orf84, CACNA1B, CAMK4, CAPN8, CARM1, CASP1, CASP12, CBR3, CCDC39, CCDC64B, CCHCR1, CD3E, CDH10, CDYL, CELSR1, CELSR3, CERCAM, CES2, CHIC1, CHST14, CHST7, CLDN5, COL16A1, COL8A2, CPO, CTRB1, CTSA, CWC25, CYP8B1, DCTN4, DDB1, DDX18, DIS3L2, DLG2, DMBT1, DNAH10, DNAH11, DOCK1, DPY19L1, DST, DUSP6, DYNC2H1, DZIP3, EBNA1BP2, EFCAB10, EFCAB13, EFEMP1, EGFL8, EHD1, EML3, EPHX3, EXO1, EXOC3L1, FAM187B, FCGR2A, FLNB, FMN2, FMO6P, FNDC7, FOXR2, FPGT-TNNI3K, FREM2, FXR1, GAB4, GABRB2, GCLC, GCSAML, GGN, GNAS, GOT1L1, GPR155, GPR158, GPR98, GRAMD1B, GTF3C4, GXYLT1, GZMB, H2BFM, HCN1, HLA-DQB1, HOXC4, HSD11B1L, IGHV3OR16-13, IKBKAP, IL17RA, IL17RB, IRF7, IRX1, ITGB4, ITPA, ITPRIPL1, KCNK18, KIAA1109, KIF11, KLHL4, KRTAP10-6, KRTAP4-7, LAMA2, LARP1B, LGALS8, LINC00955, LMBR1, LMCD1, LRCH4, LRRC25, LRRC53, LY6G5C, MACROD2, MALRD1, MAP2K3, MAPK15, MAST1, MATN2, MED29, MEF2BNB, MEN1, MGA, MKI67, MMP8, MND1, MPP5, MRGPRX3, MRPS36, MS4A12, MTCH2, MTMR9, MTRF1, MTSS1L, MUC12, MUC19, MUC3A, MVD, MYO15A, MYO15B, MYO18A, MYO9A, NBEA, NDUFB9, NEDD4L, NKX2-8, NLRP3, NOP2, NPC1, NPDC1, NTRK3, OR10D3, OR10Z1, OR2L8, OR4C3, OR4C5, OR4X1, OR51Q1, OR5AR1, OR5P2, OR6C74, OSBP, PAAF1, PABPC3, PARD3, PARP14, PCNT, PDE10A, PDE1C, PDE4DIP, PDK2, PER1, PEX1, PEX2, PGAM2, PIF1, PIK3R1, PKD1L2, PKHD1, PLA2G2C, PLCB3, PLEKHG4, POLE2, POLR3A, POMT1, PPEF2, PPP6R2, PRDM2, PRIM2, PRKCG, PRKCH, PRKCQ, PROCA1, PROSC, PRSS21, PRTG, PTGDR2, PTGES3L-AARSD1, PVRIG, RAD52, RASAL1, RAVER1, RELN, RFX1, RIOK1, RNF170, ROBO1, ROR2, RP11-625H11.1, RP11-794P6.2, SAMD9L, SCARF2, SCYL3, SDCBP2, SDK1, SEMA6B, SGCZ, SKA1, SLC10A2, SLC15A4, SLC22A24, SLC25A5, SLC6A18, SLFN13, SMARCC1, SPATA8, SPTBN1, SRCRB4D, STAB1, STK10, STT3B, SUOX, SVOPL, SYNE1, SYTL1, SYTL5, TAF4, TAS2R31, TAS2R46, TBC1D32, TIMM22, TLDC1, TMEM150C, TMEM185B, TMPO, TNFAIP3, TNIP2, TP53BP1, TPCN1, TRAPPC12, TRAV35, TRBV10-1, TRBV3-1, TRBV5-5, TTI1, UBE2NL, USP29, USP6, VGLL3, VPS9D1, VSTM4, VTN, WDR48, WDR74, WDR89, WDR93, WDR96, YME1L1, ZDHHC1, ZFR, ZKSCAN7, ZNF117, ZNF142, ZNF257, ZNF493, ZNF613, ZNF671, ZNF792, ZNF80, ZSWIM6,

+ Genes associated with diseases 71

Genes at Omim

AHDC1, AMN, AP4E1, ARID1B, BDP1, CACNA1B, CASP12, CCDC39, CD3E, CHST14, COL8A2, CTSA, DIS3L2, DNAH11, DST, DUSP6, DYNC2H1, EFEMP1, FCGR2A, FLNB, FMN2, FREM2, GABRB2, GCLC, GNAS, HCN1, HLA-DQB1, IKBKAP, IL17RA, IRF7, ITGB4, ITPA, KCNK18, KIAA1109, KIF11, LAMA2, LMBR1, MAST1, MEN1, MVD, MYO15A, MYO9A, NDUFB9, NEDD4L, NLRP3, NPC1, NPC1, PCNT, PDE10A, PDE1C, PEX1, PEX2, PGAM2, PIK3R1, POLR3A, POMT1, PRKCG, PRKCH, RELN, RNF170, ROR2, SAMD9L, SCARF2, SLC10A2, STT3B, SUOX, SYNE1, TNFAIP3, TRAPPC12, YME1L1, ZSWIM6,

AHDC1	Xia-Gibbs syndrome, 615829 (3)
AMN	Megaloblastic anemia-1, Norwegian type, 261100 (3)
AP4E1	Spastic paraplegia 51, autosomal recessive, 613744 (3) Stuttering, familial persistent, 1, 184450 (3)
ARID1B	Coffin-Siris syndrome 1, 135900 (3)
BDP1	?Deafness, autosomal recessive 112, 618257 (3)
CACNA1B	?Dystonia 23, 614860 (3)
CASP12	{Sepsis, susceptibility to} (3)
CCDC39	Ciliary dyskinesia, primary, 14, 613807 (3)
CD3E	Immunodeficiency 18, 615615 (3) Immunodeficiency 18, SCID variant, 615615 (3)
CHST14	Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
COL8A2	Corneal dystrophy, Fuchs endothelial, 1, 136800 (3) Corneal dystrophy, posterior polymorphous 2, 609140 (3)
CTSA	Galactosialidosis, 256540 (3)
DIS3L2	Perlman syndrome, 267000 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DST	Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3) ?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
DUSP6	Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EFEMP1	Doyne honeycomb degeneration of retina, 126600 (3)
FCGR2A	{Lupus nephritis, susceptibility to}, 152700 (3) {Malaria, severe, susceptibility to}, 611162 (3) {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FLNB	Atelosteogenesis, type I, 108720 (3) Atelosteogenesis, type III, 108721 (3) Boomerang dysplasia, 112310 (3) Larsen syndrome, 150250 (3) Spondylocarpotarsal synostosis syndrome, 272460 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
FREM2	Fraser syndrome 2, 617666 (3)
GABRB2	Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
GCLC	Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3) {Myocardial infarction, susceptibility to}, 608446 (3)
GNAS	ACTH-independent macronodular adrenal hyperplasia, 219080 (3) McCune-Albright syndrome, somatic, mosaic 174800 (3) Osseous heteroplasia, progressive, 166350 (3) Pituitary adenoma 3, multiple types, somatic, 617686 (3) Pseudohypoparathyroidism Ia, 103580 (3) Pseudohypoparathyroidism Ib, 603233 (3) Pseudohypoparathyroidism Ic, 612462 (3) Pseudopseudohypoparathyroidism, 612463 (3)
HCN1	Epileptic encephalopathy, early infantile, 24, 615871 (3)
HLA-DQB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
IKBKAP	Dysautonomia, familial, 223900 (3)
IL17RA	Immunodeficiency 51, 613953 (3)
IRF7	?Immunodeficiency 39, 616345 (3)
ITGB4	Epidermolysis bullosa of hands and feet, 131800 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
ITPA	Epileptic encephalopathy, early infantile, 35, 616647 (3) [Inosine triphosphatase deficiency], 613850 (3)
KCNK18	{Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
KIAA1109	Alkuraya-Kucinskas syndrome, 617822 (3)
KIF11	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3)
LAMA2	Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3)
LMBR1	Acheiropody, 200500 (3) Hypoplastic or aplastic tibia with polydactyly, 188740 (3) Laurin-Sandrow syndrome, 135750 (3) Polydactyly, preaxial type II, 174500 (3) Syndactyly, type IV, 186200 (3) Triphalangeal thumb, type I, 174500 (3) Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)
MAST1	Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MEN1	Adrenal adenoma, somatic (3) Angiofibroma, somatic (3) Carcinoid tumor of lung (3) Lipoma, somatic (3) Multiple endocrine neoplasia 1, 131100 (3) Parathyroid adenoma, somatic (3)
MVD	Porokeratosis 7, multiple types, 614714 (3)
MYO15A	Deafness, autosomal recessive 3, 600316 (3)
MYO9A	Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)
NDUFB9	?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
NEDD4L	Periventricular nodular heterotopia 7, 617201 (3)
NLRP3	Familial cold inflammatory syndrome 1, 120100 (3) CINCA syndrome, 607115 (3) Deafness, autosomal dominant 34, with or without inflammation, 617772 (3) Keratoendothelitis fugax hereditaria, 148200 (3) Muckle-Wells syndrome, 191900 (3)
NPC1	{Nasopharyngeal carcinoma 1} (2)
NPC1	Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3)
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PDE10A	Dyskinesia, limb and orofacial, infantile-onset, 616921 (3) Striatal degeneration, autosomal dominant, 616922 (3)
PDE1C	?Deafness, autosomal dominant 74, 618140 (3)
PEX1	Heimler syndrome 1, 234580 (3) Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3) Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PEX2	Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3) Peroxisome biogenesis disorder 5B, 614867 (3)
PGAM2	Glycogen storage disease X, 261670 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
POLR3A	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) Wiedemann-Rautenstrauch syndrome, 264090 (3)
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PRKCG	Spinocerebellar ataxia 14, 605361 (3)
PRKCH	{Cerebral infarction, susceptibility to}, 601367 (3)
RELN	Lissencephaly 2 (Norman-Roberts type), 257320 (3) {Epilepsy, familial temporal lobe, 7}, 616436 (3)
RNF170	Ataxia, sensory, 1, autosomal dominant, 608984 (3)
ROR2	Brachydactyly, type B1, 113000 (3) Robinow syndrome, autosomal recessive, 268310 (3)
SAMD9L	Ataxia-pancytopenia syndrome, 159550 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SLC10A2	Bile acid malabsorption, primary, 613291 (3)
STT3B	?Congenital disorder of glycosylation, type Ix, 615597 (3)
SUOX	Sulfite oxidase deficiency, 272300 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
TNFAIP3	Autoinflammatory syndrome, familial, Behcet-like, 616744 (3)
TRAPPC12	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3)
YME1L1	?Optic atrophy 11, 617302 (3)
ZSWIM6	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 (3) Acromelic frontonasal dysostosis, 603671 (3)

Genes at Clinical Genomics Database

AHDC1, AMN, AP4E1, ARID1B, CACNA1B, CCDC39, CD3E, CHST14, COL8A2, CTSA, DIS3L2, DNAH11, DST, DUSP6, DYNC2H1, EFEMP1, FLNB, FMN2, FREM2, GCLC, GNAS, HCN1, IKBKAP, IL17RA, IRF7, ITGB4, ITPA, KCNK18, KIF11, LAMA2, LMBR1, MEN1, MVD, MYO15A, NLRP3, NPC1, PCNT, PDE10A, PEX1, PEX2, PGAM2, PIK3R1, PKHD1, POLR3A, POMT1, PRKCG, RELN, ROR2, SCARF2, SLC10A2, STT3B, SUOX, SYNE1, TMPO, TNFAIP3, ZSWIM6,

AHDC1	Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
AMN	Megaloblastic anemia-1, Norwegian type
AP4E1	Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive
ARID1B	Mental retardation, autosomal dominant, 12 Coffin-Siris syndrome 1
CACNA1B	Dystonia 23
CCDC39	Ciliary dyskinesia, primary, 14
CD3E	Immunodeficiency 18
CHST14	Ehlers-Danlos syndrome, musculocontractural type 1
COL8A2	Corneal dystrophy polymorphous posterior, 2 Corneal dystrophy, Fuchs endothelial, 1
CTSA	Galactosialidosis
DIS3L2	Perlman syndrome
DNAH11	Ciliary dyskinesia, primary, 7
DST	Neuropathy, hereditary sensory and autonomic, type VI
DUSP6	Hypogonadotropic hypogonadism 19, with or without anosmia
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP1	Doyne honeycomb degeneration of retina Malattia leventinese
FLNB	Larsen syndrome Spondylocarpotarsal synostosis syndrome Boomerang dysplasia Atelosteogenesis, type I Atelosteogenesis, type III
FMN2	Mental retardation, autosomal recessive, 47
FREM2	Fraser syndrome
GCLC	Gamma-glutamylcysteine synthetase deficiency
GNAS	Pseudohypoparathyroidism, type IA Pseudohypoparathyroidism, type IB Pseudohypoparathyroidism, type IC Progressive osseous heteroplasia McCune-Albright syndrome
HCN1	Epileptic encephalopathy, early infantile, 24
IKBKAP	Dysautonomia, familial
IL17RA	Candiasis, familial, 5
IRF7	Immunodeficiency 39
ITGB4	Epidermolysis bullosa, junctional, with pyloric atresia Epidermolysis bullosa, junctional, non-Herlitz type Epidermolysis bullosa simplex, Weber-Cockayne type
ITPA	Inosine triphosphatase deficiency
KCNK18	Migraine, with or without aura, susceptibility to, 13
KIF11	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
LAMA2	Muscular dystrophy, congenital merosin-deficient, 1A Schizophrenia
LMBR1	Acheiropody Syndactyly, type IV Laurin-Sandrow syndrome Triphalangeal thumb, type I Polydactyly, preaxial type II Triphalangeal thumb-polysyndactyly syndrome Tibial aplasia/hypoplasia Hypoplastic or aplastic tibia with polydactyly
MEN1	Multiple endocrine neoplasia type I Hyperparathyroidism, familial primary
MVD	Porokeratosis 7
MYO15A	Deafness, autosomal recessive 3
NLRP3	Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome Neonatal Onset Multisystem Inflammatory Disease (NOMID) Muckle-Wells syndrome
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II
PDE10A	Striatal degeneration, autosomal dominant 2 Infantile-onset dyskinesia
PEX1	Heimler syndrome 1
PEX2	Peroxisome biogenesis disorder 5A Peroxisome biogenesis disorder 5B
PGAM2	Glycogen storage disease X
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PKHD1	Polycystic kidney disease, autosomal recessive
POLR3A	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PRKCG	Spinocerebellar ataxia 14
RELN	Epilepsy, familial temporal lobe, 7 Lissencephaly 2
ROR2	Robinow syndrome, autosomal recessive Brachydactyly, type B1
SCARF2	Van den Ende-Gupta syndrome
SLC10A2	Bile acid malabsorption, primary
STT3B	Congenital disorder of glycosylation, type Ix
SUOX	Sulfocysteinuria
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
TMPO	Cardiomyopathy, dilated, 1T
TNFAIP3	Autoinflammatory syndrome, familial, Behcet-like
ZSWIM6	Acromelic frontonasal dysostosis

Genes at HGMD

Summary

Number of Variants: 319
Number of Genes: 304

Export to: CSV

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ABHD15
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	17	.	27889869	3968.34	C	A	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only	0/1	48	STOP_GAINED	HIGH	None							None None	None None None None	ABHD15\|0.102676834\|50.66%
	View	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	17	.	27893180	4982.34	G	A	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only	0/1	48	STOP_GAINED	HIGH	None							None None	None None None None	ABHD15\|0.102676834\|50.66%,TP53I13\|0.023381184\|72.49%
AC025287.1
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	16	.	75730784	310.04	C	A	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90	1/1	18	STOP_GAINED	HIGH	None							None None	None None None None	TERF2IP\|0.034445195\|67.64%
ACBD5
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	10	.	27497282	2637.34	G	A	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only	0/1	36	STOP_GAINED	HIGH	None							None None	None None None None	ACBD5\|0.116795914\|47.98%
ACSM4
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	12	rs7485773 dbSNP Clinvar	7475081	2104.34	C	T	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only	0/1	34	STOP_GAINED	HIGH	None	0.04852	0.04852	0.05974				None None	None None None None	ACSM4\|0.022577905\|72.89%
AGPAT5
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	8	.	6605322	2055.34	C	T	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90	0/1	30	STOP_GAINED	HIGH	None							None None	None None None None	AGPAT5\|0.083981086\|54.43%
AHDC1
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	1	.	27875953	13496.34	C	A	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90	0/1	92	STOP_GAINED	HIGH	None							None None	None None None None	AHDC1\|0.445284553\|18.42%
AMN
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	14	rs775778646 dbSNP Clinvar	103395135	7739.34	G	A	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90	0/1	88	STOP_GAINED	HIGH	None							None None	None None None None	AMN\|0.006710473\|83.83%
ANKRD36C
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	2	rs76474100 dbSNP Clinvar	96617111	2135.34	G	A	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90	0/1	6	STOP_GAINED	HIGH	None	0.00040	0.00040					None None	None None None None	ANKRD36C\|0.001406745\|93.3%
ANKRD52
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	sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only	12	.	56639189	1657.34	G	T	Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only	0/1	16	STOP_GAINED	HIGH	None							None None	None None None None	ANKRD52\|0.243975122\|32.09%
AOC3
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