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

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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

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Summary

Number of Variants: 79
Number of Genes: 0

Export to: CSV

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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	myexome-1 annotated mendelmd	7	rs11761361 dbSNP Clinvar	102107697	220.8	G	C	PASS	1/1	7	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.47125	0.47120					None None	None None None None	LRWD1\|0.105506437\|50.14%
	View	myexome-1 annotated mendelmd	7	rs5888422,rs397781507 dbSNP Clinvar	150672162	139.9	T	TC	PASS	1/1	5	MOTIF[MA0139.1:CTCF]	LOW	None	1.00000	1.00000					None None	None None None None	KCNH2\|0.688011457\|8.87%
	View	myexome-1 annotated mendelmd	11	rs575375 dbSNP Clinvar	64535357	4195.77	T	C	PASS	1/1	129	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.96865	0.96870	0.03041				None None	None None None None	SF1\|0.639225523\|10.49%
	View	myexome-1 annotated mendelmd	3	rs73238032 dbSNP Clinvar	114018441	1266.77	T	C	PASS	0/1	133	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.00479	0.00479	0.01545				None None	None None None None	TIGIT\|0.008907269\|81.74%
	View	myexome-1 annotated mendelmd	14	rs3215788 dbSNP Clinvar	65453493	77.77	TG	T	PASS	0/1	7	MOTIF[MA0139.1:CTCF]	LOW	None	0.00339	0.14540					None None	None None None None	CHURC1-FNTB\|0.506332309\|15.53%,FNTB\|0.413954649\|19.93%
	View	myexome-1 annotated mendelmd	5	rs4957430 dbSNP Clinvar	41843797	1478.77	C	T	PASS	0/1	112	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.21605	0.21610					None None	None None None None	OXCT1\|0.313202771\|26.58%
	View	myexome-1 annotated mendelmd	5	rs4705755 dbSNP Clinvar	112379434	1052.77	T	A	PASS	1/1	27	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.49281	0.49280					None None	None None None None	MCC\|0.469013944\|17.21%
	View	myexome-1 annotated mendelmd	14	rs6109 dbSNP Clinvar	95058360	296.78	A	G	PASS	1/1	8	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.63099	0.63100	0.22036				None None	None None None None	SERPINA5\|0.010727799\|80.35%
	View	myexome-1 annotated mendelmd	14	rs72710126 dbSNP Clinvar	95696275	536.77	G	A	PASS	0/1	36	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.12820	0.12820					None None	None None None None	CLMN\|0.046085386\|63.88%
	View	myexome-1 annotated mendelmd	14	rs56103835 dbSNP Clinvar	101522556	350.77	T	C	PASS	0/1	37	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.29792	0.29790	0.15757				None None	None None None None	None
	View	myexome-1 annotated mendelmd	15	rs2253603 dbSNP Clinvar	40565055	2464.77	G	A	PASS	0/1	175	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.45447	0.45450	0.42673				None None	None None None None	PAK6\|0.183662894\|38.57%
	View	myexome-1 annotated mendelmd	15	rs55986634 dbSNP Clinvar	64275645	214.77	G	A	PASS	0/1	23	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.16214	0.16210					None None	None None None None	DAPK2\|0.301329146\|27.56%
	View	myexome-1 annotated mendelmd	19	rs12975442 dbSNP Clinvar	7917919	557.77	C	T	PASS	0/1	39	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.42931	0.42930					None None	None None None None	EVI5L\|0.086789363\|53.81%
	View	myexome-1 annotated mendelmd	19	rs2305763 dbSNP Clinvar	17316253	1052.77	T	C	PASS	0/1	72	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.62979	0.62980					None None	None None None None	MYO9B\|0.037345575\|66.66%
	View	myexome-1 annotated mendelmd	19	rs2301669 dbSNP Clinvar	19453560	2506.77	C	A	PASS	1/1	73	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.52436	0.52440	0.42822				None None	None None None None	MAU2\|0.230960956\|33.29%
	View	myexome-1 annotated mendelmd	19	rs4020520 dbSNP Clinvar	23869684	607.77	G	A	PASS	1/1	20	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.97304	0.97300					None None	None None None None	ZNF675\|0.001544841\|92.55%
	View	myexome-1 annotated mendelmd	19	rs73060953 dbSNP Clinvar	55652712	417.77	G	C	PASS	0/1	19	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.02177	0.02177	0.03845				None None	None None None None	TNNT1\|0.135858719\|44.99%
	View	myexome-1 annotated mendelmd	20	rs6086563 dbSNP Clinvar	8703145	3319.77	C	G	PASS	1/1	89	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.66214	0.66210					None None	None None None None	PLCB1\|0.832831133\|5.05%
	View	myexome-1 annotated mendelmd	11	rs11227495 dbSNP Clinvar	66263243	332.77	C	T	PASS	0/1	18	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.21246	0.21250	0.19181				None None	None None None None	DPP3\|0.287233243\|28.56%
	View	myexome-1 annotated mendelmd	13	rs9535292 dbSNP Clinvar	50244041	805.77	T	C	PASS	0/1	58	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.61062	0.61060	0.37188				None None	None None None None	EBPL\|0.026484478\|71.13%
	View	myexome-1 annotated mendelmd	14	rs3215788 dbSNP Clinvar	65453493	77.77	TG	T	PASS	0/1	7	MOTIF[MA0139.1:CTCF]	LOW	None	0.00339	0.14540					None None	None None None None	CHURC1-FNTB\|0.506332309\|15.53%,FNTB\|0.413954649\|19.93%
	View	myexome-1 annotated mendelmd	14	rs6109 dbSNP Clinvar	95058360	296.78	A	G	PASS	1/1	8	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.63099	0.63100	0.22036				None None	None None None None	SERPINA5\|0.010727799\|80.35%
	View	myexome-1 annotated mendelmd	14	rs72710126 dbSNP Clinvar	95696275	536.77	G	A	PASS	0/1	36	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.12820	0.12820					None None	None None None None	CLMN\|0.046085386\|63.88%
	View	myexome-1 annotated mendelmd	14	rs56103835 dbSNP Clinvar	101522556	350.77	T	C	PASS	0/1	37	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.29792	0.29790	0.15757				None None	None None None None	None
	View	myexome-1 annotated mendelmd	15	rs2253603 dbSNP Clinvar	40565055	2464.77	G	A	PASS	0/1	175	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.45447	0.45450	0.42673				None None	None None None None	PAK6\|0.183662894\|38.57%
	View	myexome-1 annotated mendelmd	15	rs55986634 dbSNP Clinvar	64275645	214.77	G	A	PASS	0/1	23	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.16214	0.16210					None None	None None None None	DAPK2\|0.301329146\|27.56%
	View	myexome-1 annotated mendelmd	15	rs351242 dbSNP Clinvar	74472716	1273.77	G	A	PASS	1/1	34	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.81969	0.81970					None None	None None None None	STRA6\|0.02555581\|71.53%
	View	myexome-1 annotated mendelmd	15	rs11312224,rs398078309,rs397854153 dbSNP Clinvar	75130015	352.77	AG	A	PASS	0/1	33	MOTIF[MA0139.1:CTCF]	LOW	None							None None	None None None None	ULK3\|0.181646729\|38.83%
	View	myexome-1 annotated mendelmd	19	rs12975442 dbSNP Clinvar	7917919	557.77	C	T	PASS	0/1	39	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.42931	0.42930					None None	None None None None	EVI5L\|0.086789363\|53.81%
	View	myexome-1 annotated mendelmd	19	rs2305763 dbSNP Clinvar	17316253	1052.77	T	C	PASS	0/1	72	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.62979	0.62980					None None	None None None None	MYO9B\|0.037345575\|66.66%
	View	myexome-1 annotated mendelmd	19	rs73060953 dbSNP Clinvar	55652712	417.77	G	C	PASS	0/1	19	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.02177	0.02177	0.03845				None None	None None None None	TNNT1\|0.135858719\|44.99%
	View	myexome-1 annotated mendelmd	20	rs6086563 dbSNP Clinvar	8703145	3319.77	C	G	PASS	1/1	89	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.66214	0.66210					None None	None None None None	PLCB1\|0.832831133\|5.05%
	View	myexome-1 annotated mendelmd	1	rs76268387 dbSNP Clinvar	212988540	350.77	G	C	PASS	0/1	46	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.02017	0.02017	0.02284			6.01	0.01 0.22882 T	None None None None	TATDN3\|0.205566411\|36.05%
	View	myexome-1 annotated mendelmd	10	rs78436482 dbSNP Clinvar	72294085	110.77	G	C	PASS	0/1	9	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.00899	0.00899					None None	None None None None	PALD1\|0.038632473\|66.24%
	View	myexome-1 annotated mendelmd	11	rs4078520 dbSNP Clinvar	723429	1128.77	C	T	PASS	1/1	36	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.34165	0.34170					None None	None None None None	EPS8L2\|0.009899843\|80.93%
	View	myexome-1 annotated mendelmd	11	rs11227495 dbSNP Clinvar	66263243	332.77	C	T	PASS	0/1	18	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.21246	0.21250	0.19181				None None	None None None None	DPP3\|0.287233243\|28.56%
	View	myexome-1 annotated mendelmd	12	rs1244063 dbSNP Clinvar	124832606	818.77	A	G	PASS	1/1	24	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.76578	0.76580					None None	None None None None	NCOR2\|0.460506037\|17.66%
	View	myexome-1 annotated mendelmd	13	rs67765306 dbSNP Clinvar	40229842	885.77	A	AG	PASS	0/1	55	MOTIF[MA0139.1:CTCF]	LOW	None	0.44369	0.44370	0.38268				None None	None None None None	COG6\|0.303873453\|27.36%
	View	myexome-1 annotated mendelmd	13	rs9535292 dbSNP Clinvar	50244041	805.77	T	C	PASS	0/1	58	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.61062	0.61060	0.37188				None None	None None None None	EBPL\|0.026484478\|71.13%
	View	myexome-1 annotated mendelmd	14	rs4982856 dbSNP Clinvar	24563212	440.77	T	C	PASS	0/1	42	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.41154	0.41150					None None	None None None None	NRL\|0.215034879\|34.98%
	View	myexome-1 annotated mendelmd	14	rs73593291 dbSNP Clinvar	24906094	116.77	T	C	PASS	0/1	6	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.16813	0.16810					None None	None None None None	KHNYN\|0.038013777\|66.45%
	View	myexome-1 annotated mendelmd	4	rs17470892 dbSNP Clinvar	48143201	456.77	T	C	PASS	1/1	12	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.19569	0.19570					None None	None None None None	TEC\|0.720083632\|7.97%
	View	myexome-1 annotated mendelmd	4	rs10639733,rs768598040 dbSNP Clinvar	120550125	158.77	A	AGGC	PASS	0/1	9	MOTIF[MA0139.1:CTCF]	LOW	None							None None	None None None None	PDE5A\|0.288780989\|28.44%
	View	myexome-1 annotated mendelmd	6	rs2296358 dbSNP Clinvar	7390369	2214.77	T	C	PASS	1/1	72	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.87560	0.87560					None None	None None None None	RIOK1\|0.078777032\|55.49%
	View	myexome-1 annotated mendelmd	15	rs351242 dbSNP Clinvar	74472716	1273.77	G	A	PASS	1/1	34	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.81969	0.81970					None None	None None None None	STRA6\|0.02555581\|71.53%
	View	myexome-1 annotated mendelmd	15	rs11312224,rs398078309,rs397854153 dbSNP Clinvar	75130015	352.77	AG	A	PASS	0/1	33	MOTIF[MA0139.1:CTCF]	LOW	None							None None	None None None None	ULK3\|0.181646729\|38.83%
	View	myexome-1 annotated mendelmd	8	rs4841558 dbSNP Clinvar	11415597	524.77	C	T	PASS	0/1	26	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.45447	0.45450	0.38867				None None	None None None None	BLK\|0.095762795\|51.98%
	View	myexome-1 annotated mendelmd	8	rs1042701 dbSNP Clinvar	11422045	1366.77	G	A	PASS	0/1	121	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.24002	0.24000					None None	None None None None	BLK\|0.095762795\|51.98%
	View	myexome-1 annotated mendelmd	17	rs820387 dbSNP Clinvar	73746146	1766.77	T	C	PASS	1/1	53	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.74062	0.74060	0.21313				None None	None None None None	ITGB4\|0.346553835\|24.38%
	View	myexome-1 annotated mendelmd	17	rs2665961 dbSNP Clinvar	74023107	200.84	A	G	PASS	1/1	6	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.50839	0.50840					None None	None None None None	EVPL\|0.131929334\|45.62%
	View	myexome-1 annotated mendelmd	10	rs78436482 dbSNP Clinvar	72294085	110.77	G	C	PASS	0/1	9	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.00899	0.00899					None None	None None None None	PALD1\|0.038632473\|66.24%
	View	myexome-1 annotated mendelmd	11	rs4078520 dbSNP Clinvar	723429	1128.77	C	T	PASS	1/1	36	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.34165	0.34170					None None	None None None None	EPS8L2\|0.009899843\|80.93%
	View	myexome-1 annotated mendelmd	11	rs575375 dbSNP Clinvar	64535357	4195.77	T	C	PASS	1/1	129	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.96865	0.96870	0.03041				None None	None None None None	SF1\|0.639225523\|10.49%
	View	myexome-1 annotated mendelmd	12	rs1244063 dbSNP Clinvar	124832606	818.77	A	G	PASS	1/1	24	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.76578	0.76580					None None	None None None None	NCOR2\|0.460506037\|17.66%
	View	myexome-1 annotated mendelmd	14	rs4982856 dbSNP Clinvar	24563212	440.77	T	C	PASS	0/1	42	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.41154	0.41150					None None	None None None None	NRL\|0.215034879\|34.98%
	View	myexome-1 annotated mendelmd	14	rs73593291 dbSNP Clinvar	24906094	116.77	T	C	PASS	0/1	6	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.16813	0.16810					None None	None None None None	KHNYN\|0.038013777\|66.45%
	View	myexome-1 annotated mendelmd	19	rs11668153 dbSNP Clinvar	4352763	46.74	C	T	PASS	1/1	2	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.64896	0.64900					None None	None None None None	MPND\|0.028339111\|70.27%
	View	myexome-1 annotated mendelmd	19	rs10432306 dbSNP Clinvar	5892743	1161.77	C	T	PASS	1/1	33	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.41274	0.41270					None None	None None None None	FUT5\|0.001156471\|94.68%,NDUFA11\|0.003107133\|88.49%
	View	myexome-1 annotated mendelmd	19	rs1631032 dbSNP Clinvar	5892770	1123.77	C	T	PASS	1/1	36	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.58586	0.58590					None None	None None None None	FUT5\|0.001156471\|94.68%,NDUFA11\|0.003107133\|88.49%
	View	myexome-1 annotated mendelmd	19	rs338584 dbSNP Clinvar	41712113	222.77	C	G	PASS	0/1	11	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.28215	0.28210					None None	None None None None	CYP2S1\|0.00746674\|83.09%
	View	myexome-1 annotated mendelmd	8	rs4841558 dbSNP Clinvar	11415597	524.77	C	T	PASS	0/1	26	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.45447	0.45450	0.38867				None None	None None None None	BLK\|0.095762795\|51.98%
	View	myexome-1 annotated mendelmd	8	rs1042701 dbSNP Clinvar	11422045	1366.77	G	A	PASS	0/1	121	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.24002	0.24000					None None	None None None None	BLK\|0.095762795\|51.98%
	View	myexome-1 annotated mendelmd	1	rs2027222 dbSNP Clinvar	9084924	405.77	T	C	PASS	0/1	32	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.81709	0.81710					None None	None None None None	SLC2A7\|0.007683394\|82.87%
	View	myexome-1 annotated mendelmd	3	rs7640969 dbSNP Clinvar	45718327	449.77	T	G	PASS	0/1	48	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.00040	0.00040					None None	None None None None	LIMD1\|0.021021846\|73.66%
	View	myexome-1 annotated mendelmd	14	rs1987970 dbSNP Clinvar	107198866	314.78	T	G	PASS	1/1	9	MOTIF[MA0139.1:CTCF]	MODIFIER	None	1.00000	1.00000					None None	None None None None	None
	View	myexome-1 annotated mendelmd	7	rs11761361 dbSNP Clinvar	102107697	220.8	G	C	PASS	1/1	7	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.47125	0.47120					None None	None None None None	LRWD1\|0.105506437\|50.14%
	View	myexome-1 annotated mendelmd	7	rs5888422,rs397781507 dbSNP Clinvar	150672162	139.9	T	TC	PASS	1/1	5	MOTIF[MA0139.1:CTCF]	LOW	None	1.00000	1.00000					None None	None None None None	KCNH2\|0.688011457\|8.87%
	View	myexome-1 annotated mendelmd	19	rs11668153 dbSNP Clinvar	4352763	46.74	C	T	PASS	1/1	2	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.64896	0.64900					None None	None None None None	MPND\|0.028339111\|70.27%
	View	myexome-1 annotated mendelmd	19	rs10432306 dbSNP Clinvar	5892743	1161.77	C	T	PASS	1/1	33	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.41274	0.41270					None None	None None None None	FUT5\|0.001156471\|94.68%,NDUFA11\|0.003107133\|88.49%
	View	myexome-1 annotated mendelmd	19	rs1631032 dbSNP Clinvar	5892770	1123.77	C	T	PASS	1/1	36	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.58586	0.58590					None None	None None None None	FUT5\|0.001156471\|94.68%,NDUFA11\|0.003107133\|88.49%
	View	myexome-1 annotated mendelmd	19	rs338584 dbSNP Clinvar	41712113	222.77	C	G	PASS	0/1	11	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.28215	0.28210					None None	None None None None	CYP2S1\|0.00746674\|83.09%
	View	myexome-1 annotated mendelmd	20	rs6089695 dbSNP Clinvar	60808026	520.77	C	T	PASS	0/1	29	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.38538	0.38540					None None	None None None None	None
	View	myexome-1 annotated mendelmd	13	rs67765306 dbSNP Clinvar	40229842	885.77	A	AG	PASS	0/1	55	MOTIF[MA0139.1:CTCF]	LOW	None	0.44369	0.44370	0.38268				None None	None None None None	COG6\|0.303873453\|27.36%
	View	myexome-1 annotated mendelmd	14	rs1987970 dbSNP Clinvar	107198866	314.78	T	G	PASS	1/1	9	MOTIF[MA0139.1:CTCF]	MODIFIER	None	1.00000	1.00000					None None	None None None None	None
	View	myexome-1 annotated mendelmd	17	rs820387 dbSNP Clinvar	73746146	1766.77	T	C	PASS	1/1	53	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.74062	0.74060	0.21313				None None	None None None None	ITGB4\|0.346553835\|24.38%
	View	myexome-1 annotated mendelmd	17	rs2665961 dbSNP Clinvar	74023107	200.84	A	G	PASS	1/1	6	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.50839	0.50840					None None	None None None None	EVPL\|0.131929334\|45.62%
	View	myexome-1 annotated mendelmd	19	rs2301669 dbSNP Clinvar	19453560	2506.77	C	A	PASS	1/1	73	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.52436	0.52440	0.42822				None None	None None None None	MAU2\|0.230960956\|33.29%
	View	myexome-1 annotated mendelmd	19	rs4020520 dbSNP Clinvar	23869684	607.77	G	A	PASS	1/1	20	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.97304	0.97300					None None	None None None None	ZNF675\|0.001544841\|92.55%
	View	myexome-1 annotated mendelmd	20	rs6089695 dbSNP Clinvar	60808026	520.77	C	T	PASS	0/1	29	MOTIF[MA0139.1:CTCF]	MODIFIER	None	0.38538	0.38540					None None	None None None None	None

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