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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:
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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

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+ Genes 21

Genes:
AHNAK2, ANGPT2, ARL14EPL, ASCC2, CHST15, EEF1D, FAT1, HAVCR1, INF2, KIAA1328, KRI1, LGALS8, LINC00955, MDK, MDN1, MPRIP, OR51V1, PKD1L2, PODXL, SLC6A18, TRAK1,

+ Genes associated with diseases 2

Genes at Omim

INF2, TRAK1,

INF2	Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3) Glomerulosclerosis, focal segmental, 5, 613237 (3)
TRAK1	Epileptic encephalopathy, early infantile, 68, 618201 (3)

Genes at Clinical Genomics Database

INF2,

INF2	Focal segmental glomerulosclerosis 5 Charcot-Marie-Tooth disease, dominant intermediate E

Genes at HGMD

Summary

Number of Variants: 626
Number of Genes: 21

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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	3	.	149686367	1017.19	ACA	A,AA	.	1/2	57	None	None	None							None None	None None None None	PFN2\|0.76793452\|6.66%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	11	.	128787963	707.19	ACA	A,AA	.	1/2	44	None	None	None							None None	None None None None	KCNJ5\|0.219304401\|34.46%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	17	.	40176794	346.19	AGA	A,AA	.	1/2	20	None	None	None							None None	None None None None	NKIRAS2\|0.353337485\|23.86%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	7	.	87049112	265.19	ACAA	A,AAA	.	1/2	16	None	None	None							None None	None None None None	ABCB4\|0.238504845\|32.55%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs113921390,rs370415955 dbSNP Clinvar	19545484	1113.19	A	AA...	.	1/2	42	None	None	None	0.02476	0.02476					None None	None None None None	EMC1\|0.229110718\|33.43%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs372272313 dbSNP Clinvar	47014821	722.19	A	AA...	.	1/2	43	None	None	None	0.02955	0.06090					None None	None None None None	KNCN\|0.246854292\|31.85%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	14	rs145739696 dbSNP Clinvar	104135774	897.19	A	AA...	.	1/2	18	None	None	None		0.06110					None None	None None None None	KLC1\|0.436707897\|18.85%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	15	rs376432512 dbSNP Clinvar	34111876	1494.19	AA...	A,...	.	1/2	26	None	None	None							None None	None None None None	RYR3\|0.50685085\|15.52%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	3	rs11272495 dbSNP Clinvar	17413531	2544.19	A	AA...	.	1/2	40	None	None	None	0.02596	0.02596					None None	None None None None	TBC1D5\|0.800095325\|5.84%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	12	rs10694512 dbSNP Clinvar	95500700	2416.19	A	AA...	.	1/2	65	None	None	None	0.03794	0.27340					None None	None None None None	FGD6\|0.090862537\|53.07%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	8	rs72454552,rs745713934,rs58931747 dbSNP Clinvar	26483998	360.19	AA...	A,...	.	1/2	41	None	None	None	0.90535	0.90540					None None	None None None None	DPYSL2\|0.481859756\|16.66%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	17	rs150060808,rs58338887 dbSNP Clinvar	38126911	577.19	AA...	A,...	.	1/2	20	None	None	None	0.07708	0.36900					None None	None None None None	GSDMA\|0.08984738\|53.26%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	rs150995907 dbSNP Clinvar	3209468	311.19	AG...	A,...	.	1/2	19	None	None	None							None None	None None None None	PITRM1\|0.017462354\|75.61%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	19	rs112138416,rs746538898,rs57734759 dbSNP Clinvar	1777021	2554.19	AA...	A,...	.	1/2	84	None	None	None							None None	None None None None	ONECUT3\|0.017168355\|75.74%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	rs751458325 dbSNP Clinvar	92678740	2446.19	AA...	A,...	.	1/2	65	None	None	None							None None	None None None None	ANKRD1\|0.375758485\|22.32%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs201043748 dbSNP Clinvar	19071183	676.19	AA...	A,...	.	1/2	26	None	None	None							None None	None None None None	PAX7\|0.616917555\|11.21%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	17	rs56134360,rs398058550 dbSNP Clinvar	7307103	912.19	ACC	A,AC	.	1/2	61	None	None	None							None None	None None None None	TMEM256-PLSCR3\|0.133337194\|45.38%,TMEM256\|0.123320604\|46.93%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	11	rs796797266 dbSNP Clinvar	46977537	588.19	ACC	A,AC	.	1/2	63	None	None	None							None None	None None None None	C11orf49\|0.471493042\|17.11%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	9	rs148223790,rs869198393 dbSNP Clinvar	79256653	1171.19	ACC	A,AC	.	1/2	44	None	None	None	0.37700	0.48940					None None	None None None None	PRUNE2\|0.26380863\|30.4%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	4	rs139656197 dbSNP Clinvar	17885296	362.19	A	AA...	.	1/2	25	None	None	None							None None	None None None None	LCORL\|0.754765698\|6.99%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	5	rs70988555 dbSNP Clinvar	122359502	684.19	A	AA...	.	1/2	39	None	None	None							None None	None None None None	SNX24\|0.577823246\|12.68%,PPIC\|0.174152283\|39.77%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs71559823,rs77873548 dbSNP Clinvar	228107554	2246.19	A	AA...	.	1/2	83	None	None	None	0.43510	0.43510					None None	None None None None	WNT9A\|0.206885197\|35.91%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs372482196,rs369328290 dbSNP Clinvar	220101029	306.19	A	AA...	.	1/2	23	None	None	None							None None	None None None None	SLC30A10\|0.020910014\|73.7%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	5	rs142447793,rs878896817,rs566409981,rs56061835 dbSNP Clinvar	55528572	459.19	A	AA...	.	1/2	18	None	None	None		0.16350					None None	None None None None	ANKRD55\|0.097647762\|51.59%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	5	.	100145662	769.19	A	AA...	.	1/2	34	None	None	None	0.01797						None None	None None None None	ST8SIA4\|0.510612545\|15.35%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	19	rs137971261,rs58113099 dbSNP Clinvar	46970589	996.19	A	AA...	.	1/2	53	None	None	None	0.49720	0.49720					None None	None None None None	PNMAL1\|0.001937297\|91.15%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	rs760917085,rs879005341,rs60354357 dbSNP Clinvar	31816340	1042.19	AACAC	AA...	.	1/2	45	None	None	None							None None	None None None None	ZEB1\|0.848008697\|4.69%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	7	rs144874127 dbSNP Clinvar	155256690	879.19	AACAC	AA...	.	1/2	46	None	None	None							None None	None None None None	EN2\|0.358503209\|23.56%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	.	12872925	427.19	A	AA...	.	1/2	35	None	None	None							None None	None None None None	CAMK1D\|0.393461852\|21.18%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	6	.	20212200	760.19	AA...	AA...	.	1/2	17	None	None	None							None None	None None None None	MBOAT1\|0.14353671\|43.94%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	.	34663981	1130.19	AA...	AA...	.	1/2	26	None	None	None							None None	None None None None	PARD3\|0.729211938\|7.68%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	2	.	27477627	3599.19	AA...	AA...	.	1/2	72	None	None	None							None None	None None None None	SLC30A3\|0.129189607\|45.99%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	5	rs754666907,rs372587161 dbSNP Clinvar	176729736	1812.19	ACCC	A,ACC	.	1/2	82	None	None	None							None None	None None None None	RAB24\|0.237109181\|32.69%,MXD3\|0.074275902\|56.47%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	11	rs796647111,rs869164191 dbSNP Clinvar	107502123	332.19	ACCC	A,ACC	.	1/2	13	None	None	None							None None	None None None None	ELMOD1\|0.397130002\|20.96%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	.	22828835	872.19	AG...	A,AGA	.	1/2	48	None	None	None							None None	None None None None	PIP4K2A\|0.404416464\|20.5%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	X	rs375662642,rs576039960 dbSNP Clinvar	24577558	768.19	A	AA...	.	1/2	26	None	None	None							None None	None None None None	PCYT1B\|0.472301859\|17.09%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs66522510 dbSNP Clinvar	31478638	793.19	AA...	AA...	.	1/2	21	None	None	None							None None	None None None None	PUM1\|0.769454828\|6.6%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	15	rs879252533 dbSNP Clinvar	40582128	677.19	AA...	AA...	.	1/2	45	None	None	None							None None	None None None None	PLCB2\|0.161252195\|41.37%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	20	rs546061449 dbSNP Clinvar	62571417	1649.19	AGGG	A,AGG	.	1/2	104	None	None	None	0.03634	0.03634					None None	None None None None	UCKL1\|0.078742286\|55.5%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	7	rs60567609,rs796824430 dbSNP Clinvar	139746521	361.19	AGTGT	A,AGT	.	1/2	20	None	None	None							None None	None None None None	PARP12\|0.044712183\|64.27%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	2	rs72202357,rs56975810 dbSNP Clinvar	7243449	2246.19	AG...	A,AGT	.	1/2	75	None	None	None							None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	rs58984643,rs398054812 dbSNP Clinvar	125448768	410.19	ATT	A,AT	.	1/2	30	None	None	None							None None	None None None None	GPR26\|0.0879289\|53.66%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	18	.	13008701	276.19	ATT	A,AT	.	1/2	28	None	None	None							None None	None None None None	CEP192\|0.030811627\|69.03%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	18	rs201044327,rs560925750,rs869168224 dbSNP Clinvar	56024396	377.19	ATT	A,AT	.	1/2	53	None	None	None	0.53115	0.53120					None None	None None None None	NEDD4L\|0.694589735\|8.66%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	20	rs879252037,rs759089942 dbSNP Clinvar	309161	338.19	ATT	A,AT	.	1/2	43	None	None	None							None None	None None None None	SOX12\|0.063889115\|58.92%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs571295326 dbSNP Clinvar	76378357	1448.19	ATATT	A,AT	.	1/2	56	None	None	None	0.01518	0.01518					None None	None None None None	MSH4\|0.331278681\|25.4%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	15	rs34776818 dbSNP Clinvar	72864578	169.19	ATT	A,AT	.	1/2	18	None	None	None							None None	None None None None	ARIH1\|0.532256681\|14.49%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	9	rs767596104,rs879198137,rs796095283 dbSNP Clinvar	99264876	535.19	ATT	A,AT	.	1/2	37	None	None	None							None None	None None None None	CDC14B\|0.124790112\|46.67%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	12	rs35964882,rs756974730,rs398021031 dbSNP Clinvar	109958548	1064.19	ATT	A,AT	.	1/2	47	None	None	None							None None	None None None None	UBE3B\|0.071169846\|57.19%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	4	rs34599411 dbSNP Clinvar	85465390	859.19	ATT	A,AT	.	1/2	35	None	None	None	0.00060	0.34920					None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	2	rs572941404,rs77366044 dbSNP Clinvar	189923630	1726.19	ATT	A,AT	.	1/2	74	None	None	None	0.02656	0.02656					None None	None None None None	COL5A2\|0.575233366\|12.81%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	X	rs879169424 dbSNP Clinvar	2824177	523.19	ATT	A,AT	.	1/2	49	None	None	None							None None	None None None None	ARSD\|0.001611053\|92.29%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	6	rs56307153,rs544236436 dbSNP Clinvar	25426640	690.19	ATT	A,AT	.	1/2	56	None	None	None		0.37460					None None	None None None None	LRRC16A\|0.106228514\|49.94%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	5	rs542898391,rs747127713,rs574673454 dbSNP Clinvar	177054649	100.19	ATT	A,AT	.	1/2	61	None	None	None	0.98822	0.98820					None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	4	rs35239689,rs60181711 dbSNP Clinvar	88585217	969.19	ATT	A,AT	.	1/2	44	None	None	None	0.34864	0.34860					None None	None None None None	DMP1\|0.009519189\|81.24%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	15	rs780168469,rs3075141 dbSNP Clinvar	49620971	998.19	ATT	A,AT	.	1/2	84	None	None	None							None None	None None None None	GALK2\|0.291513443\|28.26%,FAM227B\|0.007909301\|82.68%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	2	.	132178791	2355.19	ATT	A,AT	.	1/2	117	None	None	None							None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	15	rs56744955 dbSNP Clinvar	99506442	502.19	ATT	A,AT	.	1/2	34	None	None	None							None None	None None None None	IGF1R\|0.984951188\|1.29%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs759893369 dbSNP Clinvar	174960911	575.19	ATTTT	A,AT	.	1/2	37	None	None	None							None None	None None None None	RABGAP1L\|0.635233626\|10.61%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	X	.	47068018	471.19	ATT	A,AT	.	1/2	75	None	None	None							None None	None None None None	UBA1\|0.387160986\|21.58%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	21	rs140133985 dbSNP Clinvar	34871107	773.19	ATT	A,AT	.	1/2	70	None	None	None							None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	18	rs370369440,rs527791125 dbSNP Clinvar	21698618	227.19	ATT	A,AT	.	1/2	23	None	None	None							None None	None None None None	TTC39C\|0.18491778\|38.37%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	12	rs754866155,rs763650832,rs542003773 dbSNP Clinvar	77216330	315.19	ATT	A,AT	.	1/2	58	None	None	None							None None	None None None None	ZDHHC17\|0.762443397\|6.79%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	2	rs67985366,rs748165805,rs397985992 dbSNP Clinvar	138721942	306.19	ATT	A,AT	.	1/2	36	None	None	None	0.55651	0.55650					None None	None None None None	HNMT\|0.40930561\|20.22%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	2	rs57205763,rs550377398,rs869035962 dbSNP Clinvar	201470233	239.19	ATTTT	A,AT	.	1/2	17	None	None	None		0.37080					None None	None None None None	AOX1\|0.048138399\|63.27%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	11	rs537576314 dbSNP Clinvar	6637739	388.19	ATT	A,AT	.	1/2	36	None	None	None	0.73343	0.73340					None None	None None None None	TPP1\|0.137258141\|44.82%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	8	.	24365181	327.19	ATT	A,AT	.	1/2	38	None	None	None							None None	None None None None	ADAM7\|0.013206563\|78.36%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	5	rs200804870 dbSNP Clinvar	112876889	720.19	ATT	A,AT	.	1/2	55	None	None	None	0.31330	0.31330					None None	None None None None	YTHDC2\|0.446125013\|18.36%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	22	rs56343315 dbSNP Clinvar	33411227	181.19	A	AA...	.	1/2	38	None	None	None							None None	None None None None	SYN3\|0.336782682\|25.03%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	4	rs140255456 dbSNP Clinvar	175560523	308.19	AT...	A,ATG	.	1/2	22	None	None	None							None None	None None None None	GLRA3\|0.247557186\|31.77%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	4	rs71655737,rs71215481 dbSNP Clinvar	73933671	897.19	AT...	A,ATG	.	1/2	37	None	None	None	0.35164	0.35160					None None	None None None None	COX18\|0.044414214\|64.37%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs879981608 dbSNP Clinvar	206906625	1544.19	AT...	A,ATG	.	1/2	62	None	None	None							None None	None None None None	MAPKAPK2\|0.367604053\|22.89%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	4	rs113291896,rs71942646,rs60010721 dbSNP Clinvar	158141804	1070.19	ATGTG	A,ATG	.	1/2	34	None	None	None	0.95727	0.95730					None None	None None None None	GRIA2\|0.8427223\|4.82%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs10655264,rs36105268,rs3063010 dbSNP Clinvar	180173206	385.19	A	AA...	.	1/2	31	None	None	None		0.52580					None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	9	rs796119561,rs58338820 dbSNP Clinvar	141018012	2290.19	AT...	A,...	.	1/2	50	None	None	None							None None	None None None None	CACNA1B\|0.168604934\|40.5%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	11	.	63527191	537.19	ATTTT	A,...	.	1/2	27	None	None	None							None None	None None None None	RTN3\|0.139164341\|44.53%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	16	rs11313996,rs796208330 dbSNP Clinvar	58318721	784.19	AT	A,...	.	1/2	42	None	None	None	0.00080	0.52720					None None	None None None None	PRSS54\|0.004058907\|86.92%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	16	rs9934787 dbSNP Clinvar	84034552	95.29	G	A,C	.	1/2	6	None	None	None	0.01777	0.01777					None None	None None None None	NECAB2\|0.035747368\|67.21%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	12	rs2078201 dbSNP Clinvar	52635241	395.29	G	A,C	.	1/2	16	None	None	None	0.18970	0.18970	0.21767				None None	None None None None	KRT7\|0.060196302\|59.8%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	7	rs74836112 dbSNP Clinvar	100550873	1213.29	G	A,C	.	1/2	151	None	None	None	0.31989	0.35760					None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	2	rs6726252 dbSNP Clinvar	110374215	1302.29	T	A,C	.	1/2	47	None	None	None	0.01917	0.01917					None None	None None None None	SOWAHC\|0.009267122\|81.47%
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	5	rs7728814 dbSNP Clinvar	1225688	1247.29	T	A,C	.	1/2	47	SYNONYMOUS_CODING	LOW	None	0.04892	0.04892	0.41489				None None	None None None None	SLC6A18\|0.029366379\|69.67%
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	9	rs4978450 dbSNP Clinvar	114371322	1575.29	T	A,C	.	1/2	54	None	None	None	0.20827	0.36880					None None	None None None None	None
LGALS8
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs2472126 dbSNP Clinvar	236702374	1490.29	G	A,C	.	1/2	53	SYNONYMOUS_CODING	LOW	None	0.06050	0.43330	0.43388				None None	None None None None	LGALS8\|0.03333972\|68.01%
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	1	rs3806391 dbSNP Clinvar	236721983	263.29	G	A,C	.	1/2	11	None	None	None	0.00619	0.00619					None None	None None None None	HEATR1\|0.11883394\|47.61%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	20	rs377282170,rs554851202 dbSNP Clinvar	23401904	1280.19	ACCC	AC,A	.	1/2	54	None	None	None		0.25000					None None	None None None None	NAPB\|0.308193299\|26.98%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	22	rs33991833,rs59174577,rs368109017 dbSNP Clinvar	31494568	648.19	A	AC...	.	1/2	25	None	None	None							None None	None None None None	SMTN\|0.107386501\|49.71%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	X	rs112440824,rs57974550 dbSNP Clinvar	153706040	309.19	A	AC...	.	1/2	23	None	None	None	0.00132	0.26600					None None	None None None None	LAGE3\|0.00020457\|99.75%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	21	rs757294073 dbSNP Clinvar	46934171	1630.19	A	AC...	.	1/2	90	None	None	None							None None	None None None None	SLC19A1\|0.006805855\|83.69%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	6	rs796736072,rs56014348 dbSNP Clinvar	38702102	568.19	AC	AC...	.	1/2	20	None	None	None							None None	None None None None	DNAH8\|0.998961058\|0.42%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	17	rs888944683 dbSNP Clinvar	46655142	745.19	AC	AC...	.	1/2	32	None	None	None							None None	None None None None	HOXB3\|0.537905073\|14.29%,HOXB4\|0.918509801\|3.02%
EEF1D
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	8	rs4874160 dbSNP Clinvar	144671244	2093.29	C	A,G	.	1/2	80	SYNONYMOUS_CODING	LOW	None	0.09545	0.64260	0.20869				None None	None None None None	EEF1D\|0.083769043\|54.48%
MDN1
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	6	rs9351212 dbSNP Clinvar	90402840	2237.29	C	A,G	.	1/2	80	SYNONYMOUS_CODING	LOW	None	0.11601	0.11600	0.20444				None None	None None None None	MDN1\|0.180988961\|38.9%
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	14	rs2819435 dbSNP Clinvar	105416220	1786.29	T	A,G	.	1/2	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.07528	0.72180	0.13588	1.00	0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
FAT1
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	4	rs1280098 dbSNP Clinvar	187538942	2579.29	T	A,G	.	1/2	90	NON_SYNONYMOUS_CODING	MODERATE	None	0.05312	0.05312	0.37663	0.15	0.00		None None	None None None None	FAT1\|0.058949696\|60.16%
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	10	rs12049633 dbSNP Clinvar	42529354	226.29	T	A,G	.	1/2	19	None	None	None							None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	17	rs772261244 dbSNP Clinvar	81083250	204.29	T	A,G	.	1/2	24	None	None	None							None None	None None None None	None
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	X	rs28628283 dbSNP Clinvar	15262814	595.29	T	A,G	.	1/2	27	None	None	None	0.29007	0.29010					None None	None None None None	ASB9\|0.016723091\|76.06%
	View	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	6	rs9363455 dbSNP Clinvar	66547322	561.29	T	A,G	.	1/2	21	None	None	None	0.08007	0.08007					None None	None None None None	None
ANGPT2
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	index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift	8	rs6559167 dbSNP Clinvar	6389889	2366.29	C	A,G	.	1/2	86	SYNONYMOUS_CODING	LOW	None	0.28974	0.28970	0.42734				None None	None None None None	MCPH1\|0.001260573\|94.1%,ANGPT2\|0.704905052\|8.36%

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Summary

SLC6A18

LGALS8

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MDN1

AHNAK2

FAT1

ANGPT2

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