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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

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+ Genes 13

Genes:
A4GNT, C17orf72, CABS1, DDX55, HDAC7, IDI2, KCNJ12, NBPF9, NUSAP1, PAQR6, SH2D1B, ZNF28, ZNF557,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 13

Export to: CSV

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A4GNT
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_41.variant5	3	rs2170309 dbSNP Clinvar	137843106	1381.92	T	C	PASS	0/1	129	SYNONYMOUS_STOP	LOW	None	0.65415	0.65420	0.33931				None None	None None None None	A4GNT\|0.020635171\|73.87%
C17orf72
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_41.variant5	17	rs11079520 dbSNP Clinvar	62079334	3271.3	A	G	PASS	0/1	135	SYNONYMOUS_STOP	LOW	None	0.24820	0.24820					None None	None None None None	PRR29\|0.003440848\|87.87%
CABS1
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_41.variant5	4	rs13039 dbSNP Clinvar	71201943	2448.35	A	G	PASS	0/1	180	SYNONYMOUS_STOP	LOW	None	0.19788	0.19790	0.16933				None None	None None None None	CABS1\|0.003869686\|87.19%
DDX55
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_41.variant5	12	rs3204541 dbSNP Clinvar	124104686	1428.93	G	A	PASS	0/1	131	SYNONYMOUS_STOP	LOW	None	0.25220	0.25220	0.32324				None None	None None None None	DDX55\|0.138519375\|44.62%
HDAC7
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_41.variant5	12	rs7306788 dbSNP Clinvar	48177906	1058.97	C	T	PASS	0/1	56	SYNONYMOUS_STOP	LOW	None	0.07149	0.07149	0.13901				None None	None None None None	HDAC7\|0.157662345\|41.92%
IDI2
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_41.variant5	10	rs17851563 dbSNP Clinvar	1065458	1754.35	C	T	PASS	0/1	110	SYNONYMOUS_STOP	LOW	None	0.01098	0.01098	0.02607				None None	None None None None	GTPBP4\|0.204407833\|36.18%,IDI2\|0.000337441\|99.25%
KCNJ12
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_41.variant5	17	rs76506689 dbSNP Clinvar	21319955	238.76	G	A	PASS	0/1	409	SYNONYMOUS_STOP	LOW	None							None None	None None None None	KCNJ12\|0.437556296\|18.82%
NBPF9
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_41.variant5	1	rs78667364 dbSNP Clinvar	144828784	226.11	A	G	PASS	0/1	161	SYNONYMOUS_STOP	LOW	None							None None	None None None None	NBPF9\|0.001397166\|93.36%
NUSAP1
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_41.variant5	15	rs7168431 dbSNP Clinvar	41672384	2976.72	A	G	PASS	0/1	153	SYNONYMOUS_STOP	LOW	None	0.11562	0.11560	0.19375				None None	None None None None	NUSAP1\|0.064166774\|58.84%
PAQR6
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_41.variant5	1	rs7513351 dbSNP Clinvar	156213921	2672.34	C	T	PASS	0/1	206	SYNONYMOUS_STOP	LOW	None	0.21925	0.21920	0.16231	0.00	0.02		None None	None None None None	PAQR6\|0.040541685\|65.62%
SH2D1B
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_41.variant5	1	rs17852003 dbSNP Clinvar	162367071	706.33	C	T	PASS	0/1	95	SYNONYMOUS_STOP	LOW	None	0.30731	0.30730	0.34192				None None	None None None None	SH2D1B\|0.01372296\|78.07%
ZNF28
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_41.variant5	19	rs9917044 dbSNP Clinvar	53302942	8740.69	C	T	PASS	1/1	355	SYNONYMOUS_STOP	LOW	None	0.88019	0.88020	0.12564				None None	None None None None	ZNF28\|0.000672621\|97.42%
ZNF557
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_41.variant5	19	rs186428378 dbSNP Clinvar	7083754	4308.06	G	A	PASS	0/1	337	SYNONYMOUS_STOP	LOW	None	0.00060	0.00060	0.00101				None None	None None None None	ZNF557\|0.001498664\|92.79%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 13

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

A4GNT

C17orf72

CABS1

DDX55

HDAC7

IDI2

KCNJ12

NBPF9

NUSAP1

PAQR6

SH2D1B

ZNF28

ZNF557

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