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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCD4, ABHD12B, ADAM20, ADCK1, ADSSL1, AE000662.92, AHNAK2, AHSA1, AJUBA, AK7, AKAP6, ATG2B, ATL1, ATXN3, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BMP4, BRF1, BRMS1L, BTBD6, C14orf144, C14orf166B, C14orf37, C14orf64, C14orf80, CATSPERB, CCDC175, CCDC85C, CCDC88C, CDC42BPB, CDCA4, CDH24, CEP170B, CHD8, CHGA, CHURC1, CKB, CMA1, COCH, COQ6, CPSF2, CRIP2, CTAGE5, DACT1, DCAF5, DHRS2, DHRS4, DHRS4L2, DIO2, DLGAP5, DLK1, DNAAF2, DTD2, ELMSAN1, EMC9, EML1, EML5, ESR2, ESRRB, EXD2, FAM161B, FAM179B, FAM181A, FBLN5, FBXO33, FBXO34, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GOLGA5, GPR132, GPR33, GSTZ1, GZMB, GZMH, HEATR4, HEATR5A, HOMEZ, HSP90AA1, HSPA2, IFI27L1, IFT43, IGHA1, IGHA2, IGHD, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV1-45, IGHV1-46, IGHV3-15, IGHV3-23, IGHV3-64, IGHV3-7, IGHV3-73, IGHV5-51, INF2, IPO4, IRF2BPL, IRF9, ITPK1, JAG2, JPH4, KHNYN, KIAA0586, KIF26A, KLHL33, L2HGDH, LRFN5, LRP10, LTBP2, MAP3K9, MAP4K5, MDGA2, MIA2, MLH3, MMP14, MOAP1, MTHFD1, MYH6, MYH7, NFATC4, NGDN, NID2, NIN, NKX2-1, NOP9, NRDE2, NRXN3, NYNRIN, OR10G2, OR11G2, OR11H6, OR4K1, OR4M1, OR5AU1, OTUB2, PAPLN, PARP2, PCK2, PCNX, PLEK2, PNN, POLE2, POMT2, PRKCH, PRKD1, PSMA6, PSMB11, PTGR2, REC8, RIN3, RNASE2, RNASE7, RPGRIP1, RPS6KA5, RTL1, SALL2, SDR39U1, SEC23A, SERPINA1, SERPINA11, SERPINA3, SERPINA5, SERPINA6, SERPINA9, SETD3, SFTA3, SGPP1, SIPA1L1, SIVA1, SIX6, SLC39A9, SLC7A7, SLC7A8, SLIRP, SMOC1, SPATA7, SPTB, SPTLC2, SRP54, SSTR1, STON2, SUPT16H, SYNE2, SYNE3, TBPL2, TECPR2, TEP1, TM9SF1, TMEM179, TMEM253, TNFAIP2, TOX4, TRAV21, TRAV6, TRIM9, TRMT5, TRMT61A, TSHR, TTC6, TTC7B, TTLL5, TXNDC16, UNC79, VRK1, VRTN, VSX2, WARS, WDR20, WDR25, XRCC3, YLPM1, ZBTB42, ZC2HC1C, ZDHHC22, ZFHX2, ZFP36L1, ZFYVE21, ZFYVE26, ZNF219,

+ Genes associated with diseases 62

Genes at Omim

ABCD4, ADSSL1, AK7, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DACT1, EML1, ESR2, ESRRB, FBLN5, FOXG1, FUT8, GALC, GSTZ1, IFT43, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NIN, NKX2-1, PCK2, POMT2, PRKCH, PRKD1, PSMA6, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA3, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SPTLC2, SYNE2, TECPR2, TRMT5, TSHR, TTLL5, VRK1, WARS, XRCC3, ZBTB42, ZFHX2, ZFYVE26,

ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1	Myopathy, distal, 5, 617030 (3)
AK7	?Spermatogenic failure 27, 617965 (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)
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)
FOXG1	Rett syndrome, congenital variant, 613454 (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)
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)
NIN	?Seckel syndrome 7, 614851 (3)
NKX2-1	Chorea, hereditary benign, 118700 (3) Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3) {Thyroid cancer, nonmedullary, 1}, 188550 (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)
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)
SIX6	Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC7A7	Lysinuric protein intolerance, 222700 (3)
SMOC1	Microphthalmia with limb anomalies, 206920 (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)
TECPR2	Spastic paraplegia 49, autosomal recessive, 615031 (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

ABCD4, ATL1, ATXN3, BMP4, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, ESRRB, FBLN5, FOXG1, GALC, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NIN, NKX2-1, POMT2, RPGRIP1, SALL2, SEC23A, SERPINA1, SERPINA6, SIX6, SLC7A7, SMOC1, SPATA7, SPTB, SYNE2, TECPR2, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,

ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type
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
FOXG1	Rett syndrome, congenital variant
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
NIN	Seckel syndrome 7
NKX2-1	Choreoathetosis, hypothyroidism, and neonatal respiratory distress Thyroid cancer, nonmedullary 1
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
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
SIX6	Microphthalmia, isolated, with cataract 2 Optic disc anomalies with retinal and/or macular dystrophy
SLC7A7	Lysinuric protein intolerance
SMOC1	Microphthalmia with limb anomalies
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
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: 704
Number of Genes: 231

Export to: CSV

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IGHV3-73
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	15ac02303_s1 genome	14	.	107210971	4.97	G	T	LowGQX;SB	0/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.02		None None	None None None None	None
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	15ac02303_s1 genome	14	rs11627183 dbSNP Clinvar	107131410	9.8	A	G	LowGQ;LowGQX;SB	1/1	1	None	None	None	0.61382	0.61380					None None	None None None None	None
IGHV3-64
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	15ac02303_s1 genome	14	rs11846079 dbSNP Clinvar	107114009	52.84	T	C	LowGQ;LowGQX	1/1	3	NON_SYNONYMOUS_CODING	MODERATE	None	0.62939	0.62940		1.00	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs113324720 dbSNP Clinvar	107113968	14.91	C	A	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.10		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs111853090 dbSNP Clinvar	107113858	9.8	A	G	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.00040	0.00040					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs111637096 dbSNP Clinvar	107113855	7.08	A	G	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
IGHV5-51
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	15ac02303_s1 genome	14	rs75660488 dbSNP Clinvar	107035020	52.84	C	T	LowGQ;LowGQX	1/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs200171934 dbSNP Clinvar	107035002	3.07	A	G	LowGQX;LowQD;SB	0/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs72686844 dbSNP Clinvar	107034967	14.92	T	C	LowGQ;LowGQX	1/1	3	NON_SYNONYMOUS_CODING	MODERATE	None		0.00040		0.30	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs72686843 dbSNP Clinvar	107034920	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.00040	0.00040		0.58	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs201350766 dbSNP Clinvar	107034854	7.08	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.18	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs200278759 dbSNP Clinvar	107034847	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.00040	0.00040		0.63	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs199610746 dbSNP Clinvar	107034846	9.8	T	G	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.58	0.02		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs199503234 dbSNP Clinvar	107034822	52.84	C	G	LowGQ;LowGQX	1/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.10	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs72686841 dbSNP Clinvar	107034807	52.84	G	A	LowGQ;LowGQX	1/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs72686840 dbSNP Clinvar	107034789	58.3	G	A	LowGQ;LowGQX	1/1	5	SYNONYMOUS_CODING	LOW	None			0.21701				None None	None None None None	None
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	15ac02303_s1 genome	14	rs201053767 dbSNP Clinvar	107034707	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	None	None	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs200210193 dbSNP Clinvar	107034705	9.8	G	A	LowGQ;LowGQX;SB	1/1	1	None	None	None							None None	None None None None	None
IGHV1-46
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	15ac02303_s1 genome	14	rs11848941 dbSNP Clinvar	106967052	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.00140	0.15120	0.20904				None None	None None None None	None
IGHV1-45
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	15ac02303_s1 genome	14	.	106963329	14.92	G	T	LowGQ;LowGQX	1/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.49		None None	None None None None	None
IGHV3-23
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	15ac02303_s1 genome	14	.	106725329	9.8	C	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.09		None None	None None None None	None
IGHV3-15
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	15ac02303_s1 genome	14	rs117204858 dbSNP Clinvar	106610535	9.8	T	A	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.05651	0.05651	0.09743				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs147758697 dbSNP Clinvar	106610509	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.05152	0.05152	0.09767	0.58	0.01		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs147116210 dbSNP Clinvar	106610469	14.91	A	G	LowGQ;LowGQX	1/1	2	SYNONYMOUS_CODING	LOW	None	0.04752	0.04752	0.08872				None None	None None None None	None
IGHV3-7
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	15ac02303_s1 genome	14	rs2073679 dbSNP Clinvar	106518848	9.8	T	C	LowGQ;LowGQX;SB	1/1	2	SYNONYMOUS_CODING	LOW	None	0.45807	0.45810	0.47312				None None	None None None None	None
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	15ac02303_s1 genome	14	rs9671626 dbSNP Clinvar	106363748	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	None	None	None	0.17452	0.17450					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs2753533 dbSNP Clinvar	106361418	9.8	T	C	LowGQ;LowGQX;SB	1/1	1	None	None	None	0.99980	0.99980	0.00067				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs79609575 dbSNP Clinvar	106354343	7.08	A	G	LowGQ;LowGQX;SB	1/1	2	None	None	None	0.26058	0.26060					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs2516973 dbSNP Clinvar	106354334	14.92	T	C	LowGQ;LowGQX	1/1	2	None	None	None	0.55192	0.55190	0.28363				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs36027018 dbSNP Clinvar	106354325	14.92	C	A	LowGQ;LowGQX	1/1	2	None	None	None	0.26118	0.26120					None None	None None None None	None
IGHM
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	15ac02303_s1 genome	14	rs1136534 dbSNP Clinvar	106321913	6330.81	G	A	PASS	0/1	419	SYNONYMOUS_CODING	LOW	None	0.56310	0.56310	0.42788				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs1059216 dbSNP Clinvar	106321663	5153.58	T	C	PASS	0/1	442	NON_SYNONYMOUS_CODING	MODERATE	None	0.23962	0.23960	0.15742	0.23	0.01		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs12365 dbSNP Clinvar	106321590	7085.18	C	A	PASS	1/1	277	NON_SYNONYMOUS_CODING	MODERATE	None	0.91494	0.91490	0.09231	0.15	0.22		None None	None None None None	None
IGHD
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	15ac02303_s1 genome	14	rs1005582 dbSNP Clinvar	106303846	9.8	C	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.99720	0.99720		1.00	0.00		None None	None None None None	None
IGHG3
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	15ac02303_s1 genome	14	rs2983777 dbSNP Clinvar	106237642	1827.71	T	G	PASS	1/1	66	SYNONYMOUS_CODING	LOW	None	0.93830	0.93830					None None	None None None None	None
	View	15ac02303_s1 genome	14	.	106236646	3.52	T	G	LowGQX;LowQD;SB	0/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs587723396 dbSNP Clinvar	106236316	9.8	T	G	LowGQ;LowGQX;SB	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None		0.00040		0.11	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs74093865 dbSNP Clinvar	106236143	166.77	G	A	SB	0/1	18	NON_SYNONYMOUS_CODING	MODERATE	None	0.31649	0.31650	0.23121	0.12	0.04		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs12890621 dbSNP Clinvar	106236128	261.91	T	A	PASS	0/1	21	NON_SYNONYMOUS_CODING	MODERATE	None	0.26458	0.26460	0.47078	1.00	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs77307099 dbSNP Clinvar	106235767	3128.46	C	T	PASS	0/1	293	NON_SYNONYMOUS_CODING	MODERATE	None	0.31390	0.31390	0.07604	1.00	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs78376194 dbSNP Clinvar	106235766	3303.67	G	A	PASS	0/1	300	SYNONYMOUS_CODING	LOW	None	0.31390	0.31390	0.07726				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs4042056 dbSNP Clinvar	106235614	206.79	C	T	LowQD;SB	0/1	240	NON_SYNONYMOUS_CODING	MODERATE	None	0.14776	0.14780		1.00	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs1051112 dbSNP Clinvar	106235611	3315.07	A	T	PASS	0/1	238	NON_SYNONYMOUS_CODING	MODERATE	None	0.49321	0.49320		1.00	0.00		None None	None None None None	None
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	15ac02303_s1 genome	14	rs4042058 dbSNP Clinvar	106235569	1507.74	C	G	PASS	0/1	251	None	None	None	0.20168	0.20170					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs139488657 dbSNP Clinvar	106235567	1440.8	G	A	PASS	0/1	252	None	None	None	0.20168	0.20170					None None	None None None None	None
IGHG1
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	15ac02303_s1 genome	14	rs17850094 dbSNP Clinvar	106209373	4.17	T	C	LowGQX;LowQD;SB	0/1	69	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs11552998 dbSNP Clinvar	106209340	1965.37	T	C	PASS	1/1	65	SYNONYMOUS_CODING	LOW	None	0.90635	0.90630	0.09876				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs1071803 dbSNP Clinvar	106209119	1560.58	T	C	PASS	0/1	137	NON_SYNONYMOUS_CODING	MODERATE	None	0.39736	0.39740	0.44157	0.45	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs1045853 dbSNP Clinvar	106208086	1583.57	A	C	PASS	0/1	195	NON_SYNONYMOUS_CODING	MODERATE	None	0.26438	0.26440		1.00	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs11621259 dbSNP Clinvar	106208082	1673.3	G	T	PASS	0/1	200	NON_SYNONYMOUS_CODING	MODERATE	None	0.26338	0.26340		0.28	0.06		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs17841087 dbSNP Clinvar	106207933	2169.14	G	A	PASS	0/1	252	SYNONYMOUS_CODING	LOW	None	0.29992	0.29990	0.46608				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs8011686 dbSNP Clinvar	106207843	2648.17	T	C	PASS	0/1	172	SYNONYMOUS_CODING	LOW	None	0.84225	0.84230					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs12879979 dbSNP Clinvar	106207822	33.1	A	G	LowQD;SB	0/1	173	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
IGHA1
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	15ac02303_s1 genome	14	rs1407 dbSNP Clinvar	106174261	2183.88	C	G	PASS	0/1	185	NON_SYNONYMOUS_CODING	MODERATE	None	0.33007	0.33010	0.23669	0.34	0.37		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs1130510 dbSNP Clinvar	106173808	3533.85	G	A	PASS	0/1	273	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs17349690 dbSNP Clinvar	106173790	2141.87	A	G	PASS	0/1	270	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	15ac02303_s1 genome	14	rs367746573 dbSNP Clinvar	106173660	1720.84	C	T	PASS	0/1	236	NON_SYNONYMOUS_CODING	MODERATE	None	0.00040	0.00040	0.00047	0.06	0.93		None None	None None None None	None
IGHG2
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	15ac02303_s1 genome	14	rs61983197 dbSNP Clinvar	106110993	89.23	A	G	LowQD;SB	0/1	89	SYNONYMOUS_CODING	LOW	None	0.06869	0.06869					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs11557955 dbSNP Clinvar	106110966	795.12	C	T	PASS	0/1	85	SYNONYMOUS_CODING	LOW	None	0.43670	0.43670	0.42311				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs11627594 dbSNP Clinvar	106110914	395.66	G	T	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	None	0.00220	0.00220	0.33602	0.06	1.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs8009156 dbSNP Clinvar	106110137	240.14	C	T	SB	0/1	23	NON_SYNONYMOUS_CODING	MODERATE	None	0.29812	0.29810	0.32949	0.08	0.27		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs11160859 dbSNP Clinvar	106110057	724.15	G	A	PASS	0/1	46	SYNONYMOUS_CODING	LOW	None	0.43510	0.43510	0.42093				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs4983499 dbSNP Clinvar	106109752	7452.37	A	C	PASS	1/1	273	NON_SYNONYMOUS_CODING	MODERATE	None	0.91454	0.91450	0.13359	0.65	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs28371022 dbSNP Clinvar	106109573	1323.33	T	C	PASS	0/1	129	SYNONYMOUS_CODING	LOW	None	0.56370	0.56370	0.48644				None None	None None None None	None
IGHG4
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	15ac02303_s1 genome	14	rs28595098 dbSNP Clinvar	106092401	357.59	A	G	SB	0/1	62	SYNONYMOUS_CODING	LOW	None	0.25180	0.25180					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs12434110 dbSNP Clinvar	106092383	1196.36	C	G	PASS	0/1	75	SYNONYMOUS_CODING	LOW	None	0.49221	0.49220					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs375299437 dbSNP Clinvar	106092375	1366.56	G	A	PASS	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.00060	0.00058	0.00	0.94		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs28574945 dbSNP Clinvar	106092335	632.52	G	C	SB	0/1	64	SYNONYMOUS_CODING	LOW	None	0.29693	0.29690					None None	None None None None	None
	View	15ac02303_s1 genome	14	rs10137020 dbSNP Clinvar	106092152	1888.31	G	A	PASS	0/1	143	SYNONYMOUS_CODING	LOW	None	0.29832	0.29830	0.33808				None None	None None None None	None
	View	15ac02303_s1 genome	14	rs8010914 dbSNP Clinvar	106090927	7078.36	G	T	PASS	1/1	247	SYNONYMOUS_CODING	LOW	None	0.86801	0.86800	0.11629				None None	None None None None	None
IGHE
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	15ac02303_s1 genome	14	rs375096440 dbSNP Clinvar	106067926	14.92	G	A	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None			0.00008	0.02	0.93		None None	None None None None	None
IGHA2
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	15ac02303_s1 genome	14	rs61984162 dbSNP Clinvar	106054456	1557.0	A	G	PASS	1/1	41	NON_SYNONYMOUS_CODING	MODERATE	None	0.64277	0.64280		1.00	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs9972103 dbSNP Clinvar	106054428	1575.12	C	G	PASS	1/1	47	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.64078	0.64080		0.59	0.00		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs11970 dbSNP Clinvar	106053461	318.14	T	A	PASS	1/1	35	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.06		None None	None None None None	None
	View	15ac02303_s1 genome	14	rs11160853 dbSNP Clinvar	106053454	160.65	T	C	LowGQ;LowGQX;LowMQ	1/1	23	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
C14orf80
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	15ac02303_s1 genome	14	.	105964954	7.08	G	T	LowGQ;LowGQX;SB	1/1	2	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.01	0.64		None None	None None None None	C14orf80\|0.002989896\|88.65%
CRIP2
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	15ac02303_s1 genome	14	.	105939670	9.8	G	T	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.95		None None	None None None None	CRIP2\|0.025608694\|71.49%
BTBD6
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	15ac02303_s1 genome	14	rs2816605 dbSNP Clinvar	105715515	14.92	C	T	LowGQ;LowGQX	1/1	2	SYNONYMOUS_CODING	LOW	None	0.15915	0.15910	0.19386				None None	None None None None	BRF1\|0.023675116\|72.34%,BTBD6\|0.036822903\|66.86%
BRF1
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	15ac02303_s1 genome	14	rs1020302194 dbSNP Clinvar	105688015	9.8	C	A	LowGQ;LowGQX;SB	1/1	2	STOP_GAINED	HIGH	None							None None	None None None None	BRF1\|0.023675116\|72.34%
JAG2
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	15ac02303_s1 genome	14	rs200023823 dbSNP Clinvar	105634391	373.63	C	T	PASS	0/1	22	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020	0.00032				None None	None None None None	JAG2\|0.207083459\|35.89%
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	15ac02303_s1 genome	14	rs2816679 dbSNP Clinvar	105622056	2060.55	A	G	PASS	0/1	172	None	None	None	0.97404	0.97400	0.04578				None None	None None None None	JAG2\|0.207083459\|35.89%
	View	15ac02303_s1 genome	14	rs2238287 dbSNP Clinvar	105618670	939.97	T	C	PASS	0/1	64	None	None	None	0.68930	0.68930	0.27571				None None	None None None None	JAG2\|0.207083459\|35.89%
	View	15ac02303_s1 genome	14	.	105617313	25.59	A	C	LowGQX;LowQD;SB	0/1	159	None	None	None							None None	None None None None	JAG2\|0.207083459\|35.89%
JAG2
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	15ac02303_s1 genome	14	rs1057744 dbSNP Clinvar	105617042	2083.83	C	T	PASS	0/1	165	NON_SYNONYMOUS_CODING	MODERATE	None	0.52017	0.52020	0.38826	0.20	0.00		None None	None None None None	JAG2\|0.207083459\|35.89%
	View	15ac02303_s1 genome	14	rs2272591 dbSNP Clinvar	105611282	1095.64	A	G	PASS	0/1	92	SYNONYMOUS_CODING	LOW	None	0.67672	0.67670	0.28173				None None	None None None None	JAG2\|0.207083459\|35.89%
	View	15ac02303_s1 genome	14	rs10149229 dbSNP Clinvar	105609335	2365.26	A	G	PASS	0/1	185	SYNONYMOUS_CODING	LOW	None	0.68990	0.68990	0.26605				None None	None None None None	JAG2\|0.207083459\|35.89%
GPR132
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	15ac02303_s1 genome	14	rs374588020 dbSNP Clinvar	105521733	14.92	C	T	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None			0.00008	0.53	0.00		None None	None None None None	GPR132\|0.004311782\|86.57%
CDCA4
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	15ac02303_s1 genome	14	.	105477978	7.08	A	C	LowGQ;LowGQX;SB	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.46	0.03		None None	None None None None	CDCA4\|0.005169669\|85.62%
	View	15ac02303_s1 genome	14	.	105477951	7.08	A	C	LowGQ;LowGQX;SB	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.40	0.06		None None	None None None None	CDCA4\|0.005169669\|85.62%
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	15ac02303_s1 genome	14	.	105416260	14.91	T	C	LowGQ;LowGQX	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None					0.94		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	15ac02303_s1 genome	14	rs2819435 dbSNP Clinvar	105416220	52.84	T	A	LowGQ;LowGQX	1/1	3	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	15ac02303_s1 genome	14	rs10145032 dbSNP Clinvar	105414810	9.8	C	G	LowGQ;LowGQX;SB	1/1	1	SYNONYMOUS_CODING	LOW	None	0.53235	0.53230	0.43901				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	15ac02303_s1 genome	14	rs2582513 dbSNP Clinvar	105414790	7.08	A	G	LowGQ;LowGQX;SB	1/1	1	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	15ac02303_s1 genome	14	.	105414721	7.08	G	A	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	15ac02303_s1 genome	14	rs72702027 dbSNP Clinvar	105414629	9.8	G	A	LowGQ;LowGQX;SB	1/1	1	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	15ac02303_s1 genome	14	rs34499888 dbSNP Clinvar	105411153	9.8	G	A	LowGQ;LowGQX;SB	1/1	2	SYNONYMOUS_CODING	LOW	None	0.24062	0.24060	0.37356				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	15ac02303_s1 genome	14	rs11160825 dbSNP Clinvar	105410411	4.97	C	T	LowGQX;LowQD;SB	0/1	3	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	15ac02303_s1 genome	14	rs61421370 dbSNP Clinvar	105406372	14.91	C	T	LowGQ;LowGQX	1/1	2	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	15ac02303_s1 genome	14	rs2819419 dbSNP Clinvar	105406238	7.08	A	C	LowGQ;LowGQX;SB	1/1	1	NON_SYNONYMOUS_CODING	MODERATE	None	0.59086	0.59090	0.38914		0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
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	15ac02303_s1 genome	14	rs117085637 dbSNP Clinvar	105398078	9.8	G	A	LowGQ;LowGQX;SB	1/1	1	None	None	None	0.01478	0.01478	0.01435				None None	None None None None	PLD4\|0.005767551\|84.9%

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+ Genes 231

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Genes at Omim

Genes at Clinical Genomics Database

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Summary

IGHV3-73

IGHV3-64

IGHV5-51

IGHV1-46

IGHV1-45

IGHV3-23

IGHV3-15

IGHV3-7

IGHM

IGHD

IGHG3

IGHG1

IGHA1

IGHG2

IGHG4

IGHE

IGHA2

C14orf80

CRIP2

BTBD6

BRF1

JAG2

JAG2

GPR132

CDCA4

AHNAK2

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