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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABTB1, AC009365.3, AC062017.1, ACTR3B, ADAM11, ADAMTS12, AFAP1L2, AHNAK, ALG9, ANAPC5, ANKRD52, ANXA6, AP3D1, AR, ASAP3, ASB16, ASPN, ATP8B2, ATXN2, BCAR1, BCL6B, BHLHE40, BTN3A3, C10orf71, C11orf16, C12orf56, C12orf71, C1RL, C1orf170, C5orf60, CABP5, CACNA1A, CAGE1, CAPN9, CCDC183, CCDC74B, CCZ1B, CD99L2, CDYL2, CELSR2, CHRD, CHRNA3, CHURC1, COASY, COL18A1, COPB2, CPAMD8, CRAMP1L, CROCC, CTBP1, CTDSP2, CYB561, DAW1, DDX17, DDX19B, DENND1C, DENND4B, DHRS11, DHRS3, DLST, DNAH1, DNAJC30, DOPEY2, DPP8, EHBP1L1, EIF2AK3, ERCC5, ESYT1, ESYT2, FAM47E, FAM71A, FAM86C1, FAN1, FAT1, FER1L6, FLJ27365, FMN2, FRG1B, FZR1, GABRB2, GALNT14, GAS1, GDF2, GIGYF2, GNAL, GRAMD1A, GRID2IP, HAUS7, HAVCR1, HCN4, HEATR5B, HECTD3, HIST1H3C, HK3, HNRNPF, HOOK2, HOXD1, HPR, HRC, HTATSF1, HYDIN, IGHV3OR16-10, IGSF21, IGSF3, ILK, INPP5F, ITGA5, ITLN2, ITPKA, JPH4, KAT6A, KCNK17, KIAA2018, KIR2DL1, KIR2DS4, KIR3DX1, KPRP, KRT80, LARP1, LONP1, LRTM2, LSS, LY75-CD302, MAEL, MAGED2, MAML2, MAML3, MAP3K11, MAP3K4, MAPK13, MARC1, MED19, MED24, MESP1, MESP2, METTL12, MPPE1, MPRIP, MROH5, MROH7, MRPL10, MS4A10, MSANTD2, MSH3, MUC16, MUC17, MUC3A, MVD, NBPF14, NBPF20, NCAM1, NCAPH2, NDRG4, NES, NKX2-3, NLRC5, NOL6, NPLOC4, NPRL2, NUCB2, NUMA1, NUP62, NXF1, OGDH, OR52A5, OR52B6, OR9G1, ORAI1, PADI2, PAPLN, PCDHB10, PCNXL3, PDE4DIP, PDK2, PHLDA1, PIK3R6, PKD2L2, PLCZ1, PLEKHH1, PLXNB1, PNMAL1, POU5F2, PPFIA4, PPM1J, PPP5C, PRB3, PRDX2, PRKCSH, PRPF40B, PTCHD2, PTPRQ, PWWP2A, RAI1, RASGRP3, RBM4, RBM42, RC3H1, RCL1, RECQL4, REEP4, REXO1, RFFL, RLN3, ROBO3, RPS6KA6, RPS6KB2, RRP1, RUNX1T1, SCARA3, SCNN1D, SCUBE1, SDS, SELENBP1, SEMA3F, SEMA4B, SH2D3A, SH2D5, SLC25A35, SLC35E4, SLC37A4, SLC46A1, SLC8A2, SMIM10, SPACA7, SPATA7, STARD3, SYNM, TANC2, TAS2R43, TBC1D22A, TCP11L2, TGIF1, THEMIS2, TMEM206, TMTC1, TNS1, TRAPPC11, TRAPPC6A, TRBV7-3, TSNAX, TTLL8, TUBB8P7, TULP4, TYRO3, UBXN11, ULK2, UNK, UNKL, URB2, USHBP1, USP30, USP50, VSNL1, WAC, WBSCR17, WHSC1L1, WIZ, WWC3, XKR7, YLPM1, YWHAG, ZAN, ZIC5, ZNF266, ZNF275, ZNF28, ZNF433, ZNF576, ZNF623, ZNF717, ZNF860,

+ Genes associated with diseases 51

Genes at Omim

ALG9, AP3D1, AR, ASPN, ATXN2, CACNA1A, CHRNA3, COASY, COL18A1, COPB2, CPAMD8, CTBP1, CYB561, DNAH1, EIF2AK3, ERCC5, FAN1, FMN2, GABRB2, GDF2, GIGYF2, GNAL, HCN4, HYDIN, IGSF3, KAT6A, LONP1, LSS, MAGED2, MAML2, MESP2, MSH3, MVD, NUMA1, NUP62, OGDH, ORAI1, PLCZ1, PRKCSH, PTPRQ, RAI1, RECQL4, ROBO3, SELENBP1, SLC37A4, SLC46A1, SPATA7, TGIF1, TRAPPC11, WAC, YWHAG,

ALG9	Gillessen-Kaesbach-Nishimura syndrome, 263210 (3) Congenital disorder of glycosylation, type Il, 608776 (3)
AP3D1	?Hermansky-Pudlak syndrome 10, 617050 (3)
AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ASPN	{Lumbar disc degeneration}, 603932 (3) {Osteoarthritis susceptibility 3}, 607850 (3)
ATXN2	{Parkinson disease, late-onset, susceptibility to}, 168600 (3) Spinocerebellar ataxia 2, 183090 (3) {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
COASY	Neurodegeneration with brain iron accumulation 6, 615643 (3) Pontocerebellar hypoplasia, type 12, 618266 (3)
COL18A1	Knobloch syndrome, type 1, 267750 (3)
COPB2	?Microcephaly 19, primary, autosomal recessive, 617800 (3)
CPAMD8	Anterior segment dysgenesis 8, 617319 (3)
CTBP1	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3)
CYB561	Orthostatic hypotension 2, 618182 (3)
DNAH1	?Ciliary dyskinesia, primary, 37, 617577 (3) Spermatogenic failure 18, 617576 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
FAN1	Interstitial nephritis, karyomegalic, 614817 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
GABRB2	Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3)
GDF2	Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)
GIGYF2	{Parkinson disease 11}, 607688 (3)
GNAL	Dystonia 25, 615073 (3)
HCN4	Brugada syndrome 8, 613123 (3) Sick sinus syndrome 2, 163800 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
KAT6A	Mental retardation, autosomal dominant 32, 616268 (3)
LONP1	CODAS syndrome, 600373 (3)
LSS	Cataract 44, 616509 (3) Hypotrichosis 14, 618275 (3)
MAGED2	Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MESP2	Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MSH3	Familial adenomatous polyposis 4, 617100 (3) Endometrial carcinoma, somatic, 608089 (3)
MVD	Porokeratosis 7, multiple types, 614714 (3)
NUMA1	Leukemia, acute promyelocytic, somatic, 612376 (3)
NUP62	Striatonigral degeneration, infantile, 271930 (3)
OGDH	Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
PLCZ1	?Spermatogenic failure 17, 617214 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
PTPRQ	Deafness, autosomal dominant 73, 617663 (3) Deafness, autosomal recessive 84A, 613391 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RECQL4	Baller-Gerold syndrome, 218600 (3) RAPADILINO syndrome, 266280 (3) Rothmund-Thomson syndrome, 268400 (3)
ROBO3	Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
SELENBP1	Extraoral halitosis due to MTO deficiency, 618148 (3)
SLC37A4	Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3)
SLC46A1	Folate malabsorption, hereditary, 229050 (3)
SPATA7	Leber congenital amaurosis 3, 604232 (3) Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
TRAPPC11	Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)
WAC	Desanto-Shinawi syndrome, 616708 (3)
YWHAG	Epileptic encephalopathy, early infantile, 56, 617665 (3)

Genes at Clinical Genomics Database

ALG9, AR, ATXN2, CACNA1A, COASY, COL18A1, DNAH1, EIF2AK3, ERCC5, FAN1, FMN2, GAS1, GDF2, GIGYF2, GNAL, HCN4, IGSF3, KAT6A, LONP1, LSS, MAGED2, MESP2, MSH3, MVD, NUP62, ORAI1, PRKCSH, PTPRQ, RAI1, RECQL4, ROBO3, SLC37A4, SLC46A1, SPATA7, TGIF1, TRAPPC11, WAC,

ALG9	Congenital disorder of glycosylation, type Il
AR	Androgen insensitivity Androgen insensitivity, partial
ATXN2	Spinocerebellar ataxia 2
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
COASY	Neurodegeneration with brain iron accumulation 6
COL18A1	Knobloch syndrome 1
DNAH1	Spermatogenic failure
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
FAN1	Interstitial nephritis, karyomegalic
FMN2	Mental retardation, autosomal recessive, 47
GAS1	Holoprosencephaly 4
GDF2	Hereditary hemorrhagic telangiectasia, type 5
GIGYF2	Parkinson disease, autosomal dominant, 11
GNAL	Primary torsion dystonia
HCN4	Brugada syndrome 8 Sick sinus syndrome 2
IGSF3	Lacrimal duct defect
KAT6A	Mental retardation, autosomal dominant 32
LONP1	Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies (CODAS) syndrome
LSS	Cataract 44
MAGED2	Bartter syndrome type 5, antenatal transient
MESP2	Spondylocostal dysostosis 2, autosomal recessive
MSH3	Endometrial carcinoma
MVD	Porokeratosis 7
NUP62	Striatonigral degeneration, infantile
ORAI1	Immunodeficiency 9
PRKCSH	Polycystic liver disease
PTPRQ	Deafness, autosomal recessive 84
RAI1	Smith-Magenis syndrome
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome
ROBO3	Gaze palsy, horizontal, with progressive scoliosis
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id
SLC46A1	Folate malabsorption, hereditary
SPATA7	Leber congenital amaurosis 3 Retitinitis pigmentosa, juvenile, SPATA7-related
TGIF1	Holoprosencephaly 4
TRAPPC11	Limb-girdle muscular dystrophy, type 2S
WAC	DeSanto-Shinawi syndrome

Genes at HGMD

Summary

Number of Variants: 934
Number of Genes: 271

Export to: CSV

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ABTB1
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	16hpc01702_s1 genome	3	.	127396637	9.3	C	A	LowGQX	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.22	0.06		None None	None None None None	ABTB1\|0.075523365\|56.17%
AC009365.3
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	16hpc01702_s1 genome	7	.	132412222	9.3	C	A	LowGQX	0/1	4	STOP_GAINED	HIGH	None							None None	None None None None	None
AC062017.1
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	16hpc01702_s1 genome	2	rs1709851 dbSNP Clinvar	240323661	9.3	C	A	LowGQX	0/1	3	STOP_GAINED+SPLICE_SITE_REGION	HIGH	None	0.76178	0.76180					None None	None None None None	None
ACTR3B
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	16hpc01702_s1 genome	7	.	152497705	9.3	G	T	LowGQX	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.06	0.53		None None	None None None None	ACTR3B\|0.081273101\|54.92%
ADAM11
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	16hpc01702_s1 genome	17	.	42851865	9.3	C	A	LowGQX	0/1	3	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ADAM11\|0.131633893\|45.66%
ADAMTS12
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	16hpc01702_s1 genome	5	.	33549374	9.3	G	A	LowGQX	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.18	0.23		None None	None None None None	ADAMTS12\|0.089192289\|53.4%
AFAP1L2
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	16hpc01702_s1 genome	10	.	116059041	9.3	C	A	LowGQX	0/1	3	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.82		None None	None None None None	AFAP1L2\|0.092781823\|52.66%
AHNAK
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	16hpc01702_s1 genome	11	.	62300873	9.3	C	A	LowGQX	0/1	4	NON_SYNONYMOUS_CODING	MODERATE	None					0.96		None None	None None None None	AHNAK\|0.340600581\|24.81%
ALG9
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	16hpc01702_s1 genome	11	.	111742146	0.0	G	.	LowGQX	.	0	FRAME_SHIFT	HIGH	None	1.00000	1.00000	0.00040				None None	None None None None	ALG9\|0.352156163\|23.94%
ANAPC5
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	16hpc01702_s1 genome	12	.	121789937	9.3	C	T	LowGQX	0/1	3	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None							None None	None None None None	ANAPC5\|0.591512583\|12.09%