Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
ANAPC1, ARMS2, CASP12, CCHCR1, DARS2, DNAH11, DSCR8, FRG1, GRK4, HLA-DPB1, HLA-DRB1, HLA-DRB5, IFNA10, KCNE1L, KRTAP1-1, LCN10, MAGEE2, MS4A12, MTCH2, NT5C1B, RAD52, SEMA4C, SLC6A18, TAS2R43, TPTE, UBE2NL, UGT2A1, ZAN,

+ Genes associated with diseases 5

Genes at Omim

CASP12, DARS2, DNAH11, HLA-DPB1, HLA-DRB1,

CASP12	{Sepsis, susceptibility to} (3)
DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)

Genes at Clinical Genomics Database

DARS2, DNAH11,

DARS2	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DNAH11	Ciliary dyskinesia, primary, 7

Genes at HGMD

Summary

Number of Variants: 30
Number of Genes: 28

Export to: CSV

Page 1 of 1

Page 1 of 1

Some information about this general settings option

Other sets of options are available

Allow the user to show his name in blog posts

ANAPC1
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	muestra3_s1	2	rs72936240 dbSNP Clinvar	112614429	31.8	G	A	LowQD	0/1	92	STOP_GAINED	HIGH	None							None None	None None None None	ANAPC1\|0.14646446\|43.53%
ARMS2
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	muestra3_s1	10	rs2736911 dbSNP Clinvar	124214355	1071.08	C	T	PASS	0/1	78	STOP_GAINED	HIGH	None	0.11442	0.11440	0.12546				None None	None None None None	ARMS2\|0.000659964\|97.48%
CASP12
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	muestra3_s1	11	rs497116 dbSNP Clinvar	104763117	2565.57	G	A	PASS	1/1	84	STOP_GAINED	HIGH	None	0.94848	0.94850					None None	None None None None	CASP12\|0.001761043\|91.65%
CCHCR1
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	muestra3_s1	6	rs72856718 dbSNP Clinvar	31125257	1112.17	C	A	PASS	0/1	84	STOP_GAINED	HIGH	None	0.08127	0.08127	0.07480				None None	None None None None	CCHCR1\|0.032661886\|68.3%
	View	muestra3_s1	6	rs3130453 dbSNP Clinvar	31124849	1040.4	C	T	PASS	0/1	75	STOP_GAINED	HIGH	None	0.46925	0.46920	0.48507				None None	None None None None	CCHCR1\|0.032661886\|68.3%
DARS2
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	muestra3_s1	1	.	173794373	9.66	C	A	LowGQX;LowQD;SB	0/1	18	STOP_GAINED	HIGH	None							None None	None None None None	DARS2\|0.285539768\|28.68%
DNAH11
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	muestra3_s1	7	rs2285943 dbSNP Clinvar	21582963	1203.55	G	T	PASS	0/1	92	STOP_GAINED	HIGH	None	0.41194	0.41190	0.42685				None None	None None None None	DNAH11\|0.38215847\|21.9%
DSCR8
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	muestra3_s1	21	rs2836172 dbSNP Clinvar	39528455	597.28	A	T	PASS	0/1	56	STOP_GAINED	HIGH	None	0.08826	0.08826					None None	None None None None	DSCR8\|0.004578733\|86.33%
FRG1
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	muestra3_s1	4	.	190862176	4.59	C	A	LowGQX;LowQD	0/1	105	STOP_GAINED	HIGH	None							None None	None None None None	FRG1\|0.098149242\|51.5%
GRK4
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	muestra3_s1	4	rs117478149 dbSNP Clinvar	3009536	743.7	C	T	PASS	0/1	54	STOP_GAINED	HIGH	None	0.00919	0.00919	0.00054				None None	None None None None	GRK4\|0.014130341\|77.79%
HLA-DPB1
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	muestra3_s1	6	rs1126511 dbSNP Clinvar	33048466	1343.45	G	T	PASS	1/1	45	STOP_GAINED	HIGH	None	0.27097	0.27100					None None	None None None None	HLA-DPA1\|0.007131154\|83.36%,HLA-DPB1\|0.007827013\|82.73%
HLA-DRB1
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	muestra3_s1	6	rs9269957 dbSNP Clinvar	32552141	327.77	G	A	PASS	0/1	29	STOP_GAINED	HIGH	None							None None	None None None None	HLA-DRB1\|0.032266025\|68.49%
	View	muestra3_s1	6	rs9269958 dbSNP Clinvar	32552143	767.86	C	T	PASS	1/1	29	STOP_GAINED	HIGH	None	0.69429	0.69430					None None	None None None None	HLA-DRB1\|0.032266025\|68.49%
HLA-DRB5
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	muestra3_s1	6	rs200071340 dbSNP Clinvar	32489937	65.98	G	A	PASS	0/1	18	STOP_GAINED	HIGH	None	0.25499	0.25500					None None	None None None None	HLA-DRB5\|0.020830666\|73.74%
IFNA10
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	muestra3_s1	9	rs10119910 dbSNP Clinvar	21207037	193.63	A	T	PASS	0/1	18	STOP_GAINED	HIGH	None						2.78	0.00 0.1247 T	None None None None	IFNA10\|0.00042174\|98.84%
KCNE1L
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	muestra3_s1	X	.	108867946	3.9	C	A	LowGQX;LowQD;SB	0/1	3	STOP_GAINED	HIGH	None							None None	None None None None	KCNE5\|0.041771536\|65.19%,ACSL4\|0.504424276\|15.6%
KRTAP1-1
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	muestra3_s1	17	rs3213755 dbSNP Clinvar	39197499	1765.54	G	A	PASS	0/1	140	STOP_GAINED	HIGH	None			0.16332				None None	None None None None	KRTAP1-1\|0.015451113\|76.85%
LCN10
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	muestra3_s1	9	rs9886752 dbSNP Clinvar	139634495	3051.69	G	A	PASS	1/1	98	STOP_GAINED	HIGH	None	0.19928	0.19930	0.16256				None None	None None None None	LCN10\|0.001307936\|93.85%
MAGEE2
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	muestra3_s1	X	rs1343879 dbSNP Clinvar	75004529	2226.4	C	A	PASS	1/1	70	STOP_GAINED	HIGH	None	0.27550	0.27550	0.02897				None None	None None None None	MAGEE2\|0.008225051\|82.44%
MS4A12
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	muestra3_s1	11	rs2298553 dbSNP Clinvar	60265002	435.87	C	T	PASS	0/1	51	STOP_GAINED	HIGH	None	0.47824	0.47820	0.45241				None None	None None None None	MS4A12\|0.000555931\|98.15%
MTCH2
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	muestra3_s1	11	rs796096347 dbSNP Clinvar	47644271	17.26	C	T	LowGQX;LowQD;SB	0/1	35	STOP_GAINED	HIGH	None							None None	None None None None	MTCH2\|0.544905089\|13.99%
NT5C1B
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	muestra3_s1	2	rs61742596 dbSNP Clinvar	18766156	1969.61	G	T	PASS	0/1	101	STOP_GAINED	HIGH	None	0.04093	0.04093	0.03228				None None	None None None None	NT5C1B-RDH14\|0.088963018\|53.47%,NT5C1B\|0.049244606\|62.89%
RAD52
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	muestra3_s1	12	rs4987208 dbSNP Clinvar	1022569	1458.32	A	C	PASS	1/1	47	STOP_GAINED	HIGH	None	0.02216	0.02216	0.01477				None None	None None None None	RAD52\|0.088397129\|53.56%
SEMA4C
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	muestra3_s1	2	rs12471298 dbSNP Clinvar	97526788	6922.39	C	A	PASS	1/1	223	STOP_GAINED	HIGH	None	0.02137	0.02137	0.00077				None None	None None None None	SEMA4C\|0.15171601\|42.72%
SLC6A18
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	muestra3_s1	5	rs7447815 dbSNP Clinvar	1240757	1438.3	C	G	PASS	1/1	48	STOP_GAINED	HIGH	None	0.00060	0.34860	0.36445				None None	None None None None	SLC6A18\|0.029366379\|69.67%
TAS2R43
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	muestra3_s1	12	rs3759247 dbSNP Clinvar	11243929	48.72	C	T	LowGQ;LowGQX;SB	1/1	2	STOP_GAINED	HIGH	None			0.16267				None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%,TAS2R43\|0.000835456\|96.47%
TPTE
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	muestra3_s1	21	rs1810540 dbSNP Clinvar	10942756	567.61	G	A	PASS	0/1	88	STOP_GAINED	HIGH	None							None None	None None None None	None
UBE2NL
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	muestra3_s1	X	rs237520 dbSNP Clinvar	142967468	1664.37	T	G	PASS	1/1	54	STOP_GAINED	HIGH	None	0.61748	0.61750	0.33314				None None	None None None None	UBE2NL\|0.004200754\|86.73%
UGT2A1
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	muestra3_s1	4	rs111696697 dbSNP Clinvar	70512787	950.77	A	T	PASS	0/1	65	STOP_GAINED	HIGH	None	0.01458	0.01458	0.03038				None None	None None None None	UGT2A1\|0.05524136\|61.14%
ZAN
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	muestra3_s1	7	rs2293766 dbSNP Clinvar	100371358	2614.4	G	A	PASS	1/1	81	STOP_GAINED	HIGH	None	0.17832	0.17830	0.01259				None None	None None None None	ZAN\|0.002173013\|90.5%