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 19

Genes:
AHNAK2, ALMS1, CCDC177, FAM230A, HLA-A, HLA-B, HLA-C, IVL, KRTAP10-6, KRTAP5-7, LINC00955, MANEA, MUC3A, MUC4, PRKCSH, PTPRQ, RRBP1, TTLL8, ZIC5,

+ Genes associated with diseases 6

Genes at Omim

ALMS1, HLA-A, HLA-B, HLA-C, PRKCSH, PTPRQ,

ALMS1	Alstrom syndrome, 203800 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B	{Drug-induced liver injury due to flucloxacillin} (3) {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) {Stevens-Johnson syndrome, susceptibility to}, 608579 (3) {Synovitis, chronic, susceptibility to} (3) {Toxic epidermal necrolysis, susceptibility to}, 608579 (3) {Abacavir hypersensitivity, susceptibility to} (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
PRKCSH	Polycystic liver disease 1, 174050 (3)
PTPRQ	Deafness, autosomal dominant 73, 617663 (3) Deafness, autosomal recessive 84A, 613391 (3)

Genes at Clinical Genomics Database

ALMS1, HLA-A, HLA-B, PRKCSH, PTPRQ,

ALMS1	Alstrom syndrome
HLA-A	Drug-induced toxicity, susceptibility to
HLA-B	Drug-induced toxicity, susceptibility to
PRKCSH	Polycystic liver disease
PTPRQ	Deafness, autosomal recessive 84

Genes at HGMD

Summary

Number of Variants: 440
Number of Genes: 19

Export to: CSV

Page 1 of 5
next

Page 1 of 5
next

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	combined sample_46.variant10	14	rs77111827 dbSNP Clinvar	105417243	4021.77	T	C,G	PASS	1/2	120	SYNONYMOUS_CODING	LOW	None	0.01338	0.24120					None None	None None None None	AHNAK2\|0.000253171\|99.62%
ALMS1
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_46.variant10	2	rs864622738 dbSNP Clinvar	73613031	601.68	TG...	TG...	PASS	1/2	51	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ALMS1\|0.012791041\|78.65%
CCDC177
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_46.variant10	14	rs147747237,rs4048622 dbSNP Clinvar	70039803	1814.63	CG...	C,...	PASS	1/2	56	CODON_DELETION	MODERATE	None	0.96625	0.96630					None None	None None None None	CCDC177\|0.002964422\|88.69%
FAM230A
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_46.variant10	22	.	20710219	3432.54	CC...	C,...	PASS	1/2	145	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	FAM230A\|0.000608157\|97.89%,USP41\|0.001419633\|93.25%
HLA-A
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_46.variant10	6	rs9256983 dbSNP Clinvar	29911228	9074.82	A	C,T,G	PASS	1/2	349	NON_SYNONYMOUS_CODING	MODERATE	None	0.05571	0.18950		0.65	0.00		None None	None None None None	HLA-A\|0.043055872\|64.8%
HLA-B
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_46.variant10	6	rs749557905 dbSNP Clinvar	31324528	20232.0	G	GT...	PASS	1/2	175	FRAME_SHIFT	HIGH	None							None None	None None None None	HLA-B\|0.04113834\|65.4%
	View	combined sample_46.variant10	6	rs2308466 dbSNP Clinvar	31324003	2410.58	T	A,G	PASS	1/2	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.25879	0.48500	0.49010	0.21	0.04		None None	None None None None	HLA-B\|0.04113834\|65.4%
	View	combined sample_46.variant10	6	rs2523600 dbSNP Clinvar	31324004	2410.58	C	G,T	PASS	1/2	54	NON_SYNONYMOUS_CODING	MODERATE	None	0.25879	0.48500	0.48884	0.43	0.11		None None	None None None None	HLA-B\|0.04113834\|65.4%
	View	combined sample_46.variant10	6	rs4997052 dbSNP Clinvar	31324144	2501.21	T	A,G	PASS	1/2	43	NON_SYNONYMOUS_CODING	MODERATE	None	0.23183	0.23180	0.20654	0.82	0.00		None None	None None None None	HLA-B\|0.04113834\|65.4%
HLA-C
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_46.variant10	6	rs1131115 dbSNP Clinvar	31239101	11263.2	G	A,T,C	PASS	1/2	467	NON_SYNONYMOUS_CODING	MODERATE	None	0.06909	0.17190	0.14368	0.17	0.00		None None	None None None None	HLA-C\|0.028815016\|70%
IVL
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_46.variant10	1	rs7520711,rs758373475 dbSNP Clinvar	152882982	773.67	C	G,...	PASS	1/2	36	NON_SYNONYMOUS_CODING	MODERATE	None	0.42432	0.42430					None None	None None None None	IVL\|0.002902811\|88.82%
KRTAP10-6
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_46.variant10	21	rs62220887 dbSNP Clinvar	46012160	839.76	G	GC...	PASS	1/2	42	NON_SYNONYMOUS_CODING	MODERATE	None							None None	None None None None	TSPEAR\|0.035753201\|67.21%,KRTAP10-6\|0.002193363\|90.43%
KRTAP5-7
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	combined sample_46.variant10	11	rs771895560 dbSNP Clinvar	71238675	5479.02	C	CC...	PASS	1/2	74	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	KRTAP5-7\|0.003525398\|87.73%
LINC00955
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_46.variant10	4	rs72180705,rs66807249 dbSNP Clinvar	3590823	1309.04	GACAC	G,GAC	PASS	1/2	48	FRAME_SHIFT	HIGH	None							None None	None None None None	LINC00955\|0.001348255\|93.6%
MANEA
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_46.variant10	6	.	96034881	1258.87	A	AT...	PASS	1/2	48	None	None	None	0.00080						None None	None None None None	MANEA\|0.310030368\|26.83%
MUC3A
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_46.variant10	7	rs28379747 dbSNP Clinvar	100550079	2889.56	A	C,G	PASS	1/2	362	SYNONYMOUS_CODING	LOW	None	0.32388	0.32390					None None	None None None None	MUC3A\|0.001683398\|91.94%
MUC4
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_46.variant10	3	rs62282480 dbSNP Clinvar	195510749	17366.2	C	A,...	PASS	1/2	360	NON_SYNONYMOUS_CODING	MODERATE	None	0.31949	0.31950					None None	None None None None	MUC4\|0.005441696\|85.29%
PRKCSH
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_46.variant10	19	rs71166603 dbSNP Clinvar	11558340	1902.38	AG...	A,...	PASS	1/2	94	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	PRKCSH\|0.082465223\|54.69%
PTPRQ
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_46.variant10	12	rs7976388 dbSNP Clinvar	80855818	3607.13	A	C,T	PASS	1/2	91	STOP_GAINED	HIGH	None	0.12959	0.21710					None None	None None None None	PTPRQ\|0.143670456\|43.92%
RRBP1
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_46.variant10	20	rs13040917 dbSNP Clinvar	17640009	7329.98	A	C,...	PASS	1/2	107	FRAME_SHIFT	HIGH	None	1.00000	1.00000					None None	None None None None	RRBP1\|0.032152932\|68.53%
TTLL8
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_46.variant10	22	rs738333 dbSNP Clinvar	50468907	2013.9	C	G,T	PASS	1/2	61	NON_SYNONYMOUS_CODING	MODERATE	None	0.32668	0.32670	0.41811	0.13	0.00		None None	None None None None	TTLL8\|0.003305511\|88.08%
ZIC5
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_46.variant10	13	rs774118755 dbSNP Clinvar	100622667	2974.81	TG...	TG...	PASS	1/2	96	CODON_INSERTION	MODERATE	None							None None	None None None None	ZIC5\|0.189825813\|37.83%
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_46.variant10	1	rs67506479 dbSNP Clinvar	197476279	149.44	CA...	C,...	PASS	1/2	9	None	None	None							None None	None None None None	DENND1B\|0.490308785\|16.31%
	View	combined sample_46.variant10	1	rs5781620,rs55911834 dbSNP Clinvar	231154921	5210.18	C	CT...	PASS	1/2	240	None	None	None	0.87999	0.88000					None None	None None None None	FAM89A\|0.016091293\|76.43%
	View	combined sample_46.variant10	1	rs34245359,rs67771301,rs397807288,rs61081989 dbSNP Clinvar	234608725	205.29	A	AT...	PASS	1/2	10	None	None	None							None None	None None None None	TARBP1\|0.02752742\|70.64%
	View	combined sample_46.variant10	1	rs374043151 dbSNP Clinvar	235918688	627.4	CA...	CA...	PASS	1/2	20	None	None	None							None None	None None None None	LYST\|0.09079876\|53.08%
	View	combined sample_46.variant10	2	rs879116936,rs750095117 dbSNP Clinvar	287448	474.57	TAAAA	T,...	PASS	1/2	41	None	None	None							None None	None None None None	FAM150B\|0.057005621\|60.68%
	View	combined sample_46.variant10	2	rs869128070,rs765132327 dbSNP Clinvar	75788500	95.69	CTT	C,CT	PASS	1/2	16	None	None	None							None None	None None None None	EVA1A\|0.072029356\|56.98%
	View	combined sample_46.variant10	2	rs562129029 dbSNP Clinvar	79348129	1813.01	GAA	G,GA	PASS	1/2	106	None	None	None		0.18130					None None	None None None None	REG1A\|0.001868438\|91.34%
	View	combined sample_46.variant10	2	rs67469465,rs35980296 dbSNP Clinvar	84755996	1688.6	A	AT...	PASS	1/2	70	None	None	None	0.02256	0.67790					None None	None None None None	DNAH6\|0.093927386\|52.39%
	View	combined sample_46.variant10	2	.	107421297	1002.71	CAA	CA...	PASS	1/2	32	None	None	None							None None	None None None None	ST6GAL2\|0.030326889\|69.26%
	View	combined sample_46.variant10	2	.	132111167	907.21	G	GC...	PASS	1/2	21	None	None	None							None None	None None None None	PLEKHB2\|0.091599144\|52.9%
	View	combined sample_46.variant10	2	rs796759614,rs67806395 dbSNP Clinvar	133430536	952.25	AC	A,CC	PASS	1/2	68	None	None	None	0.06550	0.06550					None None	None None None None	NCKAP5\|0.627185967\|10.89%
	View	combined sample_46.variant10	2	rs774349583 dbSNP Clinvar	219350358	113.24	CA...	CA...	PASS	1/2	25	None	None	None							None None	None None None None	USP37\|0.382075694\|21.91%
	View	combined sample_46.variant10	3	rs879859579,rs754365292,rs3832263 dbSNP Clinvar	40498720	2265.43	TACGC	T,...	PASS	1/2	115	None	None	None	0.16993	0.28430					None None	None None None None	None
	View	combined sample_46.variant10	3	rs139586078 dbSNP Clinvar	56605404	85.98	TA	T,TAA	PASS	1/2	8	None	None	None	0.00399	0.15830					None None	None None None None	CCDC66\|0.050930369\|62.39%
	View	combined sample_46.variant10	3	rs10576077 dbSNP Clinvar	93847398	452.78	CGT	C,...	PASS	1/2	26	None	None	None							None None	None None None None	None
	View	combined sample_46.variant10	3	rs768775975 dbSNP Clinvar	122254690	815.4	CAAA	CA...	PASS	1/2	106	None	None	None							None None	None None None None	PARP9\|0.003836221\|87.26%
	View	combined sample_46.variant10	3	rs75719342,rs200984893 dbSNP Clinvar	179103342	476.6	C	CT...	PASS	1/2	13	None	None	None							None None	None None None None	MFN1\|0.504082582\|15.62%
	View	combined sample_46.variant10	4	rs28440052,rs796525258 dbSNP Clinvar	949893	565.45	C	A,...	PASS	1/2	12	None	None	None	0.46106	0.46110					None None	None None None None	TMEM175\|0.023698185\|72.33%
	View	combined sample_46.variant10	4	rs10643016,rs35046039 dbSNP Clinvar	76453966	539.5	T	TA...	PASS	1/2	58	None	None	None	0.52935	0.52940					None None	None None None None	THAP6\|0.084556606\|54.3%
	View	combined sample_46.variant10	4	rs11322239 dbSNP Clinvar	76474792	31.3	CT	C,...	PASS	1/2	79	None	None	None	0.19828	0.19830					None None	None None None None	THAP6\|0.084556606\|54.3%
	View	combined sample_46.variant10	4	rs777531092 dbSNP Clinvar	78635592	1373.42	TA...	TA...	PASS	1/2	72	None	None	None							None None	None None None None	CNOT6L\|0.809704188\|5.58%
	View	combined sample_46.variant10	4	rs4446310 dbSNP Clinvar	104509231	13433.0	T	A,G	PASS	1/2	454	None	None	None	0.01877	0.79430					None None	None None None None	TACR3\|0.10976502\|49.24%
	View	combined sample_46.variant10	4	rs71971966,rs58201766 dbSNP Clinvar	106154990	82.64	TA...	T,...	PASS	1/2	20	None	None	None							None None	None None None None	TET2\|0.052316469\|61.98%
	View	combined sample_46.variant10	4	rs372909927 dbSNP Clinvar	106160231	3047.4	G	GT...	PASS	1/2	80	None	None	None							None None	None None None None	TET2\|0.052316469\|61.98%
	View	combined sample_46.variant10	4	rs67191302,rs397995790 dbSNP Clinvar	151505624	143.91	TC	T,TCC	PASS	1/2	8	None	None	None							None None	None None None None	LRBA\|0.967418531\|1.79%,MAB21L2\|0.786436463\|6.2%
	View	combined sample_46.variant10	4	rs33986267 dbSNP Clinvar	167012250	621.9	T	TAA,A	PASS	1/2	28	None	None	None	0.79653	0.79650	0.07512				None None	None None None None	TLL1\|0.379668997\|22.07%
	View	combined sample_46.variant10	4	rs749317405 dbSNP Clinvar	187066078	593.09	GG...	G,...	PASS	1/2	14	None	None	None							None None	None None None None	FAM149A\|0.005566361\|85.14%
	View	combined sample_46.variant10	5	rs6596169 dbSNP Clinvar	133530369	3594.0	G	C,T	PASS	1/2	77	None	None	None	0.70008	0.70010					None None	None None None None	PPP2CA\|0.952167398\|2.18%
	View	combined sample_46.variant10	5	rs4835684 dbSNP Clinvar	136954583	5262.43	T	A,...	PASS	1/2	90	None	None	None							None None	None None None None	KLHL3\|0.289099226\|28.42%
	View	combined sample_46.variant10	5	rs796263180 dbSNP Clinvar	160972443	645.31	TAA	TA...	PASS	1/2	69	None	None	None							None None	None None None None	GABRB2\|0.654745472\|9.91%
	View	combined sample_46.variant10	6	rs532543278,rs758473602,rs869222090,rs56750142 dbSNP Clinvar	11714213	1654.4	TAA	T,...	PASS	1/2	122	None	None	None	0.21306	0.38380					None None	None None None None	ADTRP\|0.023894479\|72.25%
	View	combined sample_46.variant10	6	rs71536155,rs9282285 dbSNP Clinvar	32724802	892.28	C	CT...	PASS	1/2	21	None	None	None	0.66973	0.66970					None None	None None None None	HLA-DQB2\|0.00469019\|86.22%
	View	combined sample_46.variant10	6	rs56270565,rs397970592 dbSNP Clinvar	42659533	1869.54	C	T,CT	PASS	1/2	53	None	None	None	0.92792	0.92790					None None	None None None None	UBR2\|0.353289156\|23.87%
	View	combined sample_46.variant10	6	rs66475459,rs775091467,rs70977752 dbSNP Clinvar	79650213	52.82	TTATA	T,TTA	PASS	1/2	6	None	None	None	0.97125	0.97120					None None	None None None None	IRAK1BP1\|0.071304062\|57.14%,PHIP\|0.581160251\|12.52%
	View	combined sample_46.variant10	6	rs781622835,rs869270950 dbSNP Clinvar	80411319	3300.75	ATTT	AT...	PASS	1/2	179	None	None	None							None None	None None None None	SH3BGRL2\|0.347789913\|24.29%
	View	combined sample_46.variant10	6	rs352085,rs962110395 dbSNP Clinvar	114183594	12221.8	A	C,T	PASS	1/2	370	None	None	None							None None	None None None None	MARCKS\|0.04333262\|64.72%
	View	combined sample_46.variant10	6	.	147042695	798.36	A	AG...	PASS	1/2	25	None	None	None	0.04533						None None	None None None None	ADGB\|0.008962502\|81.7%
	View	combined sample_46.variant10	7	rs368908038 dbSNP Clinvar	944910	234.22	GG...	AG...	PASS	1/2	8	None	None	None							None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	combined sample_46.variant10	7	rs372870944 dbSNP Clinvar	944935	259.52	CAG	C,CG	PASS	1/2	7	None	None	None							None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	combined sample_46.variant10	7	rs71546286,rs35820745,rs397889566 dbSNP Clinvar	12730250	5701.85	G	GT...	PASS	1/2	195	None	None	None	0.53514	0.53510					None None	None None None None	ARL4A\|0.138962916\|44.54%
	View	combined sample_46.variant10	7	rs58295141 dbSNP Clinvar	38543104	846.99	G	GC...	PASS	1/2	19	None	None	None							None None	None None None None	AMPH\|0.168231418\|40.54%
	View	combined sample_46.variant10	7	rs879221934 dbSNP Clinvar	65552230	944.16	CG...	CG...	PASS	1/2	52	None	None	None							None None	None None None None	ASL\|0.442057983\|18.56%
	View	combined sample_46.variant10	7	rs327520,rs66998513 dbSNP Clinvar	127250641	3219.19	G	A,...	PASS	1/2	53	None	None	None	0.22544	0.44310					None None	None None None None	PAX4\|0.364015728\|23.15%
	View	combined sample_46.variant10	7	rs878902292 dbSNP Clinvar	142139624	355.03	GCA	GC...	PASS	1/2	49	None	None	None							None None	None None None None	None
	View	combined sample_46.variant10	8	rs35876033,rs1478030 dbSNP Clinvar	14095250	946.12	A	T,AT	PASS	1/2	28	None	None	None	0.11282	0.88380					None None	None None None None	SGCZ\|0.483432839\|16.57%
	View	combined sample_46.variant10	8	rs535197924,rs372706664,rs71541654 dbSNP Clinvar	14094993	1276.3	A	AA...	PASS	1/2	66	None	None	None							None None	None None None None	SGCZ\|0.483432839\|16.57%
	View	combined sample_46.variant10	8	rs796945465,rs796673746,rs869029956 dbSNP Clinvar	26435509	736.85	TTC	T,...	PASS	1/2	29	None	None	None							None None	None None None None	DPYSL2\|0.481859756\|16.66%
	View	combined sample_46.variant10	8	rs113930926,rs71740200,rs11392432,rs34926783 dbSNP Clinvar	28203280	4275.38	C	CT...	PASS	1/2	125	None	None	None	0.87640	0.87640					None None	None None None None	ZNF395\|0.039057454\|66.08%
	View	combined sample_46.variant10	8	rs774809657,rs71305140 dbSNP Clinvar	106331094	3568.47	G	GG...	PASS	1/2	67	None	None	None							None None	None None None None	ZFPM2\|0.993294753\|0.93%
	View	combined sample_46.variant10	8	rs11136270 dbSNP Clinvar	144298046	443.55	C	A,G	PASS	1/2	27	None	None	None	0.15336	0.84600					None None	None None None None	GPIHBP1\|0.000870813\|96.22%
	View	combined sample_46.variant10	8	rs3889112,rs775390549,rs5895764,rs397744074 dbSNP Clinvar	144459233	1227.49	C	CGT,T	PASS	1/2	34	None	None	None	0.40915	0.40910					None None	None None None None	RHPN1\|0.015337144\|76.91%
	View	combined sample_46.variant10	9	.	14775729	1081.18	A	AG...	PASS	1/2	21	None	None	None	0.76977						None None	None None None None	FREM1\|0.310358547\|26.81%
	View	combined sample_46.variant10	9	rs11378713,rs879193676,rs397777351,rs397746122 dbSNP Clinvar	36833868	1066.21	A	AT...	PASS	1/2	113	None	None	None	0.53395	0.53390					None None	None None None None	PAX5\|0.967915764\|1.77%
	View	combined sample_46.variant10	9	rs34498348,rs397723784 dbSNP Clinvar	125001503	797.22	G	GT...	PASS	1/2	51	None	None	None	0.20847	0.31490					None None	None None None None	RBM18\|0.548452368\|13.81%
	View	combined sample_46.variant10	9	rs353511,rs111758824,rs397816992 dbSNP Clinvar	133996460	2832.47	T	G,TG	PASS	1/2	87	None	None	None	0.33966	0.33970					None None	None None None None	AIF1L\|0.265763061\|30.2%
	View	combined sample_46.variant10	10	rs765829766 dbSNP Clinvar	321410	2540.48	CTTT	CT...	PASS	1/2	212	None	None	None							None None	None None None None	DIP2C\|0.162764549\|41.18%
	View	combined sample_46.variant10	11	rs57207415,rs554088885,rs796923238 dbSNP Clinvar	7693853	1301.98	GCA	G,...	PASS	1/2	118	None	None	None		0.00000					None None	None None None None	CYB5R2\|0.057621137\|60.52%
	View	combined sample_46.variant10	11	rs55774312 dbSNP Clinvar	8126477	2132.9	G	GT,T	PASS	1/2	93	None	None	None	0.67133	0.67130					None None	None None None None	TUB\|0.545981656\|13.93%
	View	combined sample_46.variant10	11	rs793277 dbSNP Clinvar	19246044	3467.17	G	A,GTA	PASS	1/2	87	None	None	None	0.50160	0.50160					None None	None None None None	E2F8\|0.285797306\|28.67%
	View	combined sample_46.variant10	11	.	27370350	622.98	GAAA	GA...	PASS	1/2	52	None	None	None							None None	None None None None	CCDC34\|0.046266508\|63.84%
	View	combined sample_46.variant10	11	rs28722151,rs149254890 dbSNP Clinvar	27681176	1235.89	C	G,...	PASS	1/2	26	None	None	None	0.29892	0.29890					None None	None None None None	BDNF\|0.999919401\|0.18%
	View	combined sample_46.variant10	11	rs772465180 dbSNP Clinvar	47802092	357.33	CTTT	CT...	PASS	1/2	21	None	None	None							None None	None None None None	NUP160\|0.484785232\|16.52%
	View	combined sample_46.variant10	11	rs76729244 dbSNP Clinvar	48386906	2558.83	C	G,T	PASS	1/2	161	None	None	None	0.02057	0.02057					None None	None None None None	None
	View	combined sample_46.variant10	13	rs763721144,rs545157484 dbSNP Clinvar	31722620	609.8	TAA	T,TA	PASS	1/2	60	None	None	None		0.07208					None None	None None None None	HSPH1\|0.165535388\|40.87%
	View	combined sample_46.variant10	11	rs769892077 dbSNP Clinvar	92498315	225.32	GA	G,GAA	PASS	1/2	35	None	None	None							None None	None None None None	FAT3\|0.649753694\|10.13%
	View	combined sample_46.variant10	11	rs200762479 dbSNP Clinvar	110448195	2753.75	GAA	G,GA	PASS	1/2	146	None	None	None							None None	None None None None	ARHGAP20\|0.029035627\|69.84%
	View	combined sample_46.variant10	11	rs755236435 dbSNP Clinvar	123754929	64.89	CAA	C,CA	PASS	1/2	11	None	None	None							None None	None None None None	TMEM225\|0.000523534\|98.31%
	View	combined sample_46.variant10	11	rs2282505 dbSNP Clinvar	124016366	667.58	C	G,T	PASS	1/2	31	None	None	None	0.11861	0.11860					None None	None None None None	VWA5A\|0.013022691\|78.5%
	View	combined sample_46.variant10	11	rs11219860 dbSNP Clinvar	124856587	1383.91	T	TG...	PASS	1/2	31	None	None	None	0.31929	0.31930					None None	None None None None	CCDC15\|0.00838004\|82.25%
	View	combined sample_46.variant10	12	rs201147142 dbSNP Clinvar	39687535	2096.94	GA	G,GAA	PASS	1/2	241	None	None	None	0.29094	0.29090					None None	None None None None	KIF21A\|0.242841296\|32.21%
	View	combined sample_46.variant10	14	rs5809455 dbSNP Clinvar	70511094	2355.57	TC	T,TCC	PASS	1/2	104	None	None	None	0.34884	0.34880					None None	None None None None	SLC8A3\|0.527602575\|14.66%
	View	combined sample_46.variant10	15	rs10650948,rs201804145,rs878948262 dbSNP Clinvar	43170690	999.95	T	C,...	PASS	1/2	68	None	None	None							None None	None None None None	TTBK2\|0.577208423\|12.7%
	View	combined sample_46.variant10	15	rs202137893 dbSNP Clinvar	91044621	346.87	T	TA...	PASS	1/2	90	None	None	None	0.20747	0.20750					None None	None None None None	IQGAP1\|0.546112721\|13.92%
	View	combined sample_46.variant10	16	.	11962216	1689.99	GT	GT...	PASS	1/2	138	None	None	None							None None	None None None None	GSPT1\|0.477722435\|16.86%
	View	combined sample_46.variant10	16	rs200950086,rs562694637 dbSNP Clinvar	12123450	1101.22	ATT	A,AT	PASS	1/2	63	None	None	None							None None	None None None None	SNX29\|0.108570296\|49.44%
	View	combined sample_46.variant10	16	rs5817121 dbSNP Clinvar	57847635	3979.58	C	CG...	PASS	1/2	129	None	None	None	0.18970	0.18970					None None	None None None None	KIFC3\|0.134465074\|45.19%
	View	combined sample_46.variant10	16	rs879037041,rs758194040 dbSNP Clinvar	74922015	217.16	CAA	C,CA	PASS	1/2	40	None	None	None							None None	None None None None	WDR59\|0.270941327\|29.82%
	View	combined sample_46.variant10	16	rs140541782 dbSNP Clinvar	75480081	1344.56	GAA	G,GA	PASS	1/2	91	None	None	None							None None	None None None None	TMEM170A\|0.46815827\|17.25%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 19

+ Genes associated with diseases 6

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AHNAK2

ALMS1

CCDC177

FAM230A

HLA-A

HLA-B

HLA-C

IVL

KRTAP10-6

KRTAP5-7

LINC00955

MANEA

MUC3A

MUC4

PRKCSH

PTPRQ

RRBP1

TTLL8

ZIC5

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

Cron Job 254 Executed