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:
ALDH3B1, CD207, CELA1, CLTCL1, CREB3L1, CTD-3193O13.9, CYFIP2, CYP4B1, DIXDC1, EI24, EMG1, FAM228B, KMT2B, KRBA1, MAL2, MAPK8IP2, NEK3, NPRL3, NUDT18, OPLAH, PCSK6, PIK3R6, PLCD3, PLEKHA2, POLDIP2, PPP1R9B, PRB3, PRKDC, RECQL4, RYK, SCAMP1, SENP3, SLC37A4, SLC46A1, TEX13A, TRAJ36, VSIG10L, ZNF598,

+ Genes associated with diseases 11

Genes at Omim

CD207, CREB3L1, CYFIP2, EMG1, KMT2B, NPRL3, OPLAH, PRKDC, RECQL4, SLC37A4, SLC46A1,

CD207	[?Birbeck granule deficiency], 613393 (3)
CREB3L1	Osteogenesis imperfecta, type XVI, 616229 (3)
CYFIP2	Epileptic encephalopathy, early infantile, 65, 618008 (3)
EMG1	Bowen-Conradi syndrome, 211180 (3)
KMT2B	Dystonia 28, childhood-onset, 617284 (3)
NPRL3	Epilepsy, familial focal, with variable foci 3, 617118 (3)
OPLAH	5-oxoprolinase deficiency, 260005 (3)
PRKDC	Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
RECQL4	Baller-Gerold syndrome, 218600 (3) RAPADILINO syndrome, 266280 (3) Rothmund-Thomson syndrome, 268400 (3)
SLC37A4	Glycogen storage disease Ib, 232220 (3) Glycogen storage disease Ic, 232240 (3)
SLC46A1	Folate malabsorption, hereditary, 229050 (3)

Genes at Clinical Genomics Database

CD207, CREB3L1, EMG1, OPLAH, PRKDC, RECQL4, SLC37A4, SLC46A1,

CD207	Birbeck granule deficiency
CREB3L1	Osteogenesis imperfecta, type XVI
EMG1	Bowen-Conradi syndrome
OPLAH	5-oxoprolinase deficiency
PRKDC	Immunodeficiency 26 with or without neurologic abnormalities
RECQL4	Baller-Gerold syndrome RAPADILINO syndrome Rothmund-Thomson syndrome
SLC37A4	Glycogen storage disease Ib Glycogen storage disease Ic Glycogen storage disease Id
SLC46A1	Folate malabsorption, hereditary

Genes at HGMD

Summary

Number of Variants: 42
Number of Genes: 38

Export to: CSV

Page 1 of 1

Page 1 of 1

ALDH3B1
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	gordonsepilepsy normalized 2486	11	rs11436139,rs58238184 dbSNP Clinvar	67795378	12004.7	G	GC	.	1/1	79	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99980	0.99980	0.00424				None None	None None None None	ALDH3B1\|0.033093329\|68.12%
	View	gordonsepilepsy normalized 2486	11	rs58160034,rs397695802 dbSNP Clinvar	67789293	15875.7	G	GC	.	1/1	89	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.00280	0.99720	0.00024				None None	None None None None	ALDH3B1\|0.033093329\|68.12%
CD207
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	gordonsepilepsy normalized 2486	2	rs11450450,rs397692276 dbSNP Clinvar	71062833	13560.7	G	GC	.	1/1	90	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00025				None None	None None None None	CD207\|0.004253024\|86.68%
CELA1
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	gordonsepilepsy normalized 2486	12	rs753836828 dbSNP Clinvar	51740407	8776.5	CATAA	C	.	1/1	82	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	CELA1\|0.06097239\|59.6%
CLTCL1
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	gordonsepilepsy normalized 2486	22	rs11386977 dbSNP Clinvar	19189003	9230.68	A	AC	.	1/1	42	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99980	0.99980	0.00051				None None	None None None None	CLTCL1\|0.022666116\|72.86%
CREB3L1
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	gordonsepilepsy normalized 2486	11	rs79068197,rs386373762 dbSNP Clinvar	46342259	21844.7	A	AG	.	1/1	158	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99980	0.99980	0.00042				None None	None None None None	CREB3L1\|0.229770101\|33.39%
CTD-3193O13.9
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	gordonsepilepsy normalized 2486	19	rs58971992 dbSNP Clinvar	7938306	8638.68	A	AG	.	1/1	60	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99960	0.99960					None None	None None None None	None
CYFIP2
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	gordonsepilepsy normalized 2486	5	rs5872508,rs397781034,rs397712438 dbSNP Clinvar	156721863	10025.7	T	TC	.	1/1	48	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00203				None None	None None None None	CYFIP2\|0.509393402\|15.41%
CYP4B1
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	gordonsepilepsy normalized 2486	1	rs3215983 dbSNP Clinvar	47280746	2017.92	GAT	G	.	0/1	75	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.13538	0.13540	0.11430				None None	None None None None	CYP4B1\|0.038794091\|66.17%
DIXDC1
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	gordonsepilepsy normalized 2486	11	rs11455434,rs376922505 dbSNP Clinvar	111853106	13896.7	G	GC	.	1/1	79	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00009				None None	None None None None	DIXDC1\|0.324696755\|25.81%
EI24
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	gordonsepilepsy normalized 2486	11	rs55912941,rs397812741 dbSNP Clinvar	125452300	11539.7	A	AC	.	1/1	64	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99980	0.99980	0.00194				None None	None None None None	EI24\|0.31494271\|26.44%
EMG1
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	gordonsepilepsy normalized 2486	12	rs60117710 dbSNP Clinvar	7080210	15426.7	A	AG	.	1/1	95	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00395				None None	None None None None	EMG1\|0.122491052\|47.03%
FAM228B
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	gordonsepilepsy normalized 2486	2	rs113322110,rs397822939 dbSNP Clinvar	24387178	6820.68	G	GC	.	1/1	46	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.96206	0.96210	0.03057				None None	None None None None	FAM228B\|0.030483261\|69.18%
KMT2B
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	gordonsepilepsy normalized 2486	19	rs11373774,rs398034465 dbSNP Clinvar	36214632	9204.68	A	AG	.	1/1	58	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00257				None None	None None None None	None
KRBA1
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	gordonsepilepsy normalized 2486	7	rs11424737 dbSNP Clinvar	149426305	9512.68	G	GC	.	1/1	58	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00112				None None	None None None None	KRBA1\|0.003479568\|87.8%
MAL2
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	gordonsepilepsy normalized 2486	8	rs71302978,rs398009582 dbSNP Clinvar	120220775	3741.68	CG	C	.	1/1	33	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00577				None None	None None None None	MAL2\|0.092693301\|52.68%
MAPK8IP2
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	gordonsepilepsy normalized 2486	22	rs140511 dbSNP Clinvar	51042513	7833.81	C	CG	.	1/1	51	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00725				None None	None None None None	MAPK8IP2\|0.058785144\|60.2%
NEK3
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	gordonsepilepsy normalized 2486	13	rs3837575,rs72514762,rs397805362 dbSNP Clinvar	52718050	1850.5	C	CT	.	0/1	34	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.48802	0.48800	0.47178				None None	None None None None	NEK3\|0.085070431\|54.18%
NPRL3
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	gordonsepilepsy normalized 2486	16	rs57321480 dbSNP Clinvar	138772	16520.8	A	AG	.	1/1	106	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00016				None None	None None None None	NPRL3\|0.194653902\|37.31%
NUDT18
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	gordonsepilepsy normalized 2486	8	rs58343576,rs796630966 dbSNP Clinvar	21966707	1530.7	CG	C	.	1/1	6	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00076				None None	None None None None	NUDT18\|0.065277959\|58.56%
OPLAH
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	gordonsepilepsy normalized 2486	8	rs60949781,rs796594277 dbSNP Clinvar	145106938	10558.7	GCC	G	.	1/1	69	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00209				None None	None None None None	OPLAH\|0.085381041\|54.08%
PCSK6
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	gordonsepilepsy normalized 2486	15	rs199543153 dbSNP Clinvar	102029685	2504.68	G	GGC	.	1/1	11	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99301	0.99300	0.02314				None None	None None None None	PCSK6\|0.167215147\|40.63%
PIK3R6
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	gordonsepilepsy normalized 2486	17	rs56322041,rs869211942,rs397775164 dbSNP Clinvar	8725214	18083.7	A	AG	.	1/1	127	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99960	0.99960	0.00119				None None	None None None None	PIK3R6\|0.019330881\|74.51%
PLCD3
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	gordonsepilepsy normalized 2486	17	rs35911033 dbSNP Clinvar	43192549	10178.0	T	TC	.	1/1	69	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99980	0.99980	0.00167				None None	None None None None	PLCD3\|0.055013551\|61.18%
PLEKHA2
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	gordonsepilepsy normalized 2486	8	rs5891050,rs398007544 dbSNP Clinvar	38827185	10254.7	GC	G	.	1/1	63	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00009				None None	None None None None	PLEKHA2\|0.247298578\|31.8%
POLDIP2
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	gordonsepilepsy normalized 2486	17	rs11448856,rs67934205 dbSNP Clinvar	26684390	2568.72	G	GC	.	1/1	14	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.01501				None None	None None None None	POLDIP2\|0.380366817\|22.01%
PPP1R9B
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	gordonsepilepsy normalized 2486	17	rs10669850 dbSNP Clinvar	48227384	6772.69	G	GGC	.	1/1	33	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.02798				None None	None None None None	PPP1R9B\|0.085244344\|54.11%
	View	gordonsepilepsy normalized 2486	17	rs10669851 dbSNP Clinvar	48227403	6065.68	G	GGC	.	1/1	31	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.01407				None None	None None None None	PPP1R9B\|0.085244344\|54.11%
PRB3
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	gordonsepilepsy normalized 2486	12	rs3842295 dbSNP Clinvar	11420333	12438.7	AG	A	.	1/1	29	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.82408	0.82410	0.10774				None None	None None None None	PRB3\|0.000537603\|98.24%
PRKDC
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	gordonsepilepsy normalized 2486	8	rs11411516,rs397814002 dbSNP Clinvar	48805816	13379.7	A	AG	.	1/1	69	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00078				None None	None None None None	PRKDC\|0.642781418\|10.36%
RECQL4
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	gordonsepilepsy normalized 2486	8	rs11342077,rs398010167 dbSNP Clinvar	145738767	15493.7	CG	C	.	1/1	102	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000					None None	None None None None	RECQL4\|0.005456729\|85.27%
RYK
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	gordonsepilepsy normalized 2486	3	rs587770426 dbSNP Clinvar	133969437	345.23	A	AG	.	1/1	2	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99820	0.99820	0.01351				None None	None None None None	RYK\|0.678647218\|9.13%
SCAMP1
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	gordonsepilepsy normalized 2486	5	rs66744502 dbSNP Clinvar	77745853	17799.7	C	CA	.	1/1	32	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00071				None None	None None None None	SCAMP1\|0.364956416\|23.1%
SENP3
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	gordonsepilepsy normalized 2486	17	rs58837213,rs398030265 dbSNP Clinvar	7470285	9046.68	CA	C	.	1/1	67	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	SENP3\|0.655758186\|9.88%
SLC37A4
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	gordonsepilepsy normalized 2486	11	rs56966114,rs547203028 dbSNP Clinvar	118898435	22253.7	AC	A	.	1/1	155	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000					None None	None None None None	SLC37A4\|0.255014905\|31.13%
SLC46A1
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	gordonsepilepsy normalized 2486	17	rs5819844,rs561780114 dbSNP Clinvar	26727721	3676.68	GA	G	.	1/1	21	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00033				None None	None None None None	SARM1\|0.349245398\|24.19%,SLC46A1\|0.07823181\|55.6%
TEX13A
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	gordonsepilepsy normalized 2486	X	rs868974583,rs375033944 dbSNP Clinvar	104464276	17266.7	CA	C	.	1/1	136	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000					None None	None None None None	IL1RAPL2\|0.874064576\|4.12%,TEX13A\|0.000986608\|95.53%
	View	gordonsepilepsy normalized 2486	X	rs56118606,rs367644904 dbSNP Clinvar	104464281	17494.7	TC	T	.	1/1	141	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None							None None	None None None None	IL1RAPL2\|0.874064576\|4.12%,TEX13A\|0.000986608\|95.53%
TRAJ36
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	gordonsepilepsy normalized 2486	14	rs11324184,rs796246799 dbSNP Clinvar	22974150	20433.7	TC	T	.	1/1	150	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000					None None	None None None None	None
VSIG10L
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	gordonsepilepsy normalized 2486	19	rs11402251,rs397723022 dbSNP Clinvar	51835892	12245.7	T	TG	.	1/1	75	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00207				None None	None None None None	VSIG10L\|0.003923546\|87.15%
ZNF598
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	gordonsepilepsy normalized 2486	16	rs11366527 dbSNP Clinvar	2059621	4496.19	GC	G	.	1/1	30	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	1.00000	1.00000	0.00146				None None	None None None None	ZNF598\|0.018327605\|75.06%
	View	gordonsepilepsy normalized 2486	16	rs71148116 dbSNP Clinvar	2059736	1863.68	CG	C	.	1/1	11	FRAME_SHIFT+SPLICE_SITE_REGION	HIGH	None	0.99900	0.99900	0.02703				None None	None None None None	ZNF598\|0.018327605\|75.06%