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

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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

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Genes:
AHNAK2, ANKRD36C, AQP7, C2orf16, CLIP1, CRIPAK, EP400, F5, FLG, FMN2, FRG1B, GPATCH2L, HEATR1, HLA-C, HUWE1, IGHV1-69, IGHV2-70, IGHV3-48, IGHV4-31, IGSF3, IRF2, KCNJ12, LINC00955, MAP1B, MICALCL, MKI67, MUC16, MUC3A, MUC4, MUC5B, MUC6, NBPF1, NBPF10, NUP160, ODF1, OR10H4, OR2L3, OR4C3, OR52A1, OR9G1, PCMTD1, PDE4DIP, PLIN4, PRB1, PRG4, PRICKLE4, PRIM2, PRSS1, PSG2, ROBO2, RP1L1, RRBP1, SRGAP2, UBXN11, ZNF676,

+ Genes associated with diseases 13

Genes at Omim

AQP7, F5, FLG, FMN2, HLA-C, HUWE1, IGSF3, MUC5B, NUP160, PRG4, PRSS1, ROBO2, RP1L1,

AQP7	[Glycerol quantitative trait locus], 614411 (3)
F5	{Budd-Chiari syndrome}, 600880 (3) {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3) Factor V deficiency, 227400 (3) {Stroke, ischemic, susceptibility to}, 601367 (3) {Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3) Thrombophilia due to activated protein C resistance, 188055 (3)
FLG	{Dermatitis, atopic, susceptibility to, 2}, 605803 (3) Ichthyosis vulgaris, 146700 (3)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HUWE1	Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF3	?Lacrimal duct defect, 149700 (3)
MUC5B	{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
NUP160	?Nephrotic syndrome, type 19, 618178 (3)
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
ROBO2	Vesicoureteral reflux 2, 610878 (3)
RP1L1	Occult macular dystrophy, 613587 (3)

Genes at Clinical Genomics Database

F5, FLG, FMN2, HUWE1, IGSF3, PRG4, PRSS1, ROBO2, RP1L1,

F5	Thrombophilia due to activated protein C resistance Factor V deficiency
FLG	Icthyosis vulgaris
FMN2	Mental retardation, autosomal recessive, 47
HUWE1	Mental retardation, X-linked syndromic, Turner type
IGSF3	Lacrimal duct defect
PRG4	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PRSS1	Pancreatitis, hereditary
ROBO2	Congenital anomalies of the kidney and urinary tract
RP1L1	Occult macular dystrophy Retinitis pigmentosa, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 434
Number of Genes: 55

Export to: CSV

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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	lf7070	14	rs2582513 dbSNP Clinvar	105414790	1653.59	A	G	HaplotypeScoreFilter13	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.56310	0.56310	0.41529	1.00	0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	lf7070	14	rs142198219 dbSNP Clinvar	105415224	507.37	A	G	HaplotypeScoreFilter13	0/1	175	SYNONYMOUS_CODING	LOW	SILENT	0.02855	0.02855	0.01536				None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	lf7070	14	rs2819435 dbSNP Clinvar	105416220	4196.5	T	A	HaplotypeScoreFilter13	0/1	249	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.07528	0.72180	0.13588	1.00	0.00		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	lf7070	14	rs10438247 dbSNP Clinvar	105411781	3158.92	G	A	HaplotypeScoreFilter13	0/1	248	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.53854	0.53850	0.42047	0.00	0.91		None None	None None None None	AHNAK2\|0.000253171\|99.62%
	View	lf7070	14	rs10145032 dbSNP Clinvar	105414810	1790.25	C	G	HaplotypeScoreFilter13	0/1	250	SYNONYMOUS_CODING	LOW	SILENT	0.53235	0.53230	0.43901				None None	None None None None	AHNAK2\|0.000253171\|99.62%
ANKRD36C
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	lf7070	2	rs74946480 dbSNP Clinvar	96619688	228.12	T	G	HaplotypeScoreFilter13	0/1	104	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE				0.06	0.09		None None	None None None None	ANKRD36C\|0.001406745\|93.3%
	View	lf7070	2	rs62154594 dbSNP Clinvar	96610921	4422.03	T	G	HaplotypeScoreFilter13	0/1	213	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	MISSENSE				0.28	0.03		None None	None None None None	ANKRD36C\|0.001406745\|93.3%
	View	lf7070	2	rs77710257 dbSNP Clinvar	96525652	1902.26	T	C	HaplotypeScoreFilter13	0/1	207	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.01		None None	None None None None	ANKRD36C\|0.001406745\|93.3%
	View	lf7070	2	rs75198192 dbSNP Clinvar	96525643	1448.67	T	C	HaplotypeScoreFilter13	0/1	215	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.10	0.00		None None	None None None None	ANKRD36C\|0.001406745\|93.3%
AQP7
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	lf7070	9	rs4008658 dbSNP Clinvar	33387047	827.3	T	G	HaplotypeScoreFilter13	0/1	171	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.29	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
C2orf16
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	lf7070	2	rs28381983 dbSNP Clinvar	27804432	4025.05	T	C	HaplotypeScoreFilter13	0/1	249	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.69449	0.69450	0.41180	1.00	0.00		None None	None None None None	C2orf16\|0.002625661\|89.42%
CLIP1
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	lf7070	12	rs200453518 dbSNP Clinvar	122812697	306.55	C	T	HaplotypeScoreFilter13	0/1	129	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.09744	0.09744		0.27	0.07		None None	None None None None	CLIP1\|0.65719402\|9.83%
CRIPAK
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	lf7070	4	rs71614972 dbSNP Clinvar	1389156	2144.96	T	C	HaplotypeScoreFilter13	1/1	115	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.75859	0.75860		0.30	0.00		None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs71614973 dbSNP Clinvar	1389161	880.49	A	G	HaplotypeScoreFilter13	0/1	122	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.20986	0.20990		0.45	0.00		None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs146490783 dbSNP Clinvar	1389125	470.8	T	C	HaplotypeScoreFilter13	0/1	101	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE			0.01392	0.33	0.19		None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs151096093 dbSNP Clinvar	1389070	938.26	A	G	HaplotypeScoreFilter13	0/1	125	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs76728908 dbSNP Clinvar	1388724	433.05	C	G	HaplotypeScoreFilter13	0/1	196	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11102	0.11100		0.30	0.00		None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs78906219 dbSNP Clinvar	1388693	652.32	C	G	HaplotypeScoreFilter13	0/1	184	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.17252	0.17250		1.00	0.00		None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs74518227 dbSNP Clinvar	1388635	645.97	T	C	HaplotypeScoreFilter13	0/1	196	SYNONYMOUS_CODING	LOW	SILENT	0.05152	0.05152					None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs200849975 dbSNP Clinvar	1388631	728.01	C	G	HaplotypeScoreFilter13	0/1	189	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.04353	0.04353		0.20	0.00		None None	None None None None	CRIPAK\|0.000914016\|95.95%
	View	lf7070	4	rs78309237 dbSNP Clinvar	1388413	1610.94	T	C	HaplotypeScoreFilter13	0/1	212	SYNONYMOUS_CODING	LOW	SILENT	0.21166	0.21170	0.31893				None None	None None None None	CRIPAK\|0.000914016\|95.95%
EP400
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	lf7070	12	rs7974276 dbSNP Clinvar	132547090	315.66	A	G	HaplotypeScoreFilter13	0/1	43	SYNONYMOUS_CODING	LOW	SILENT	0.28954	0.28950					None None	None None None None	EP400\|0.051215115\|62.27%
F5
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	lf7070	1	rs9332607 dbSNP Clinvar	169510233	1920.11	G	A	HaplotypeScoreFilter13	0/1	148	SYNONYMOUS_CODING	LOW	SILENT	0.18211	0.18210	0.32908				None None	None None None None	F5\|0.038758204\|66.18%
FLG
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	lf7070	1	rs2184953 dbSNP Clinvar	152280782	4306.2	A	G	HaplotypeScoreFilter13	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.53974	0.53970		0.34	0.00		None None	None None None None	FLG\|0.000223203\|99.71%
	View	lf7070	1	rs72697000 dbSNP Clinvar	152276772	2079.59	C	A	HaplotypeScoreFilter13	0/1	191	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.29054	0.29050	0.10957	0.73	1.00		None None	None None None None	FLG\|0.000223203\|99.71%
	View	lf7070	1	rs76471961 dbSNP Clinvar	152280573	2400.0	C	T	HaplotypeScoreFilter13	0/1	201	SYNONYMOUS_CODING	LOW	SILENT	0.01138	0.04912	0.01607				None None	None None None None	FLG\|0.000223203\|99.71%
	View	lf7070	1	rs66954353 dbSNP Clinvar	152280788	1404.02	T	G	HaplotypeScoreFilter13	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE			0.14363	1.00	0.00		None None	None None None None	FLG\|0.000223203\|99.71%
FMN2
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	lf7070	1	rs4997328 dbSNP Clinvar	240370934	731.59	G	C	HaplotypeScoreFilter13	0/1	82	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.27656	0.27660		0.28	0.14		None None	None None None None	FMN2\|0.565952775\|13.15%
	View	lf7070	1	rs4997329 dbSNP Clinvar	240370941	639.35	T	C	HaplotypeScoreFilter13	0/1	79	SYNONYMOUS_CODING	LOW	SILENT	0.27456	0.27460	0.06036				None None	None None None None	FMN2\|0.565952775\|13.15%
	View	lf7070	1	rs142725738 dbSNP Clinvar	240370956	219.32	A	T	HaplotypeScoreFilter13	0/1	68	SYNONYMOUS_CODING	LOW	SILENT			0.00677				None None	None None None None	FMN2\|0.565952775\|13.15%
FRG1B
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	lf7070	20	rs79873624 dbSNP Clinvar	29625965	709.47	G	A	HaplotypeScoreFilter13	0/1	250	STOP_GAINED	HIGH	NONSENSE							None None	None None None None	FRG1B\|0.009509512\|81.26%
	View	lf7070	20	rs1803594 dbSNP Clinvar	29632662	834.4	G	C	HaplotypeScoreFilter13	0/1	248	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00120	0.00120		1.00	0.00		None None	None None None None	FRG1B\|0.009509512\|81.26%
	View	lf7070	20	rs9647043 dbSNP Clinvar	29632638	1366.79	C	A	HaplotypeScoreFilter13	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.17	0.01		None None	None None None None	FRG1B\|0.009509512\|81.26%
GPATCH2L
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	lf7070	14	rs17104243 dbSNP Clinvar	76662370	934.28	T	C	HaplotypeScoreFilter13	0/1	53	None	None	None	0.20807	0.20810	0.22405				None None	None None None None	GPATCH2L\|0.283468162\|28.84%
HEATR1
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	lf7070	1	rs4518892 dbSNP Clinvar	236744712	1083.05	C	A	HaplotypeScoreFilter13	0/1	80	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	SILENT	0.41474	0.41470	0.47855				None None	None None None None	HEATR1\|0.11883394\|47.61%
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	lf7070	6	rs41550715 dbSNP Clinvar	31238992	151.37	G	C	HaplotypeScoreFilter13	0/1	65	SYNONYMOUS_CODING	LOW	SILENT	0.02476	0.02476					None None	None None None None	HLA-C\|0.028815016\|70%
HUWE1
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	lf7070	X	rs198501 dbSNP Clinvar	53652844	624.58	G	A	HaplotypeScoreFilter13	1/1	31	None	None	None							None None	None None None None	HUWE1\|0.636259624\|10.58%
IGHV1-69
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	lf7070	14	rs8009570 dbSNP Clinvar	107170055	3026.06	G	A	HaplotypeScoreFilter13	0/1	232	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE		0.00180	0.36371	0.18	0.00		None None	None None None None	None
	View	lf7070	14	rs55891010 dbSNP Clinvar	107170062	873.06	A	G	HaplotypeScoreFilter13	0/1	230	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.44609	0.44610	0.30067	0.36	0.00		None None	None None None None	None
IGHV2-70
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	lf7070	14	rs10133751 dbSNP Clinvar	107178941	1707.82	T	A	HaplotypeScoreFilter13	0/1	146	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.27	0.02		None None	None None None None	None
	View	lf7070	14	rs61732209 dbSNP Clinvar	107179017	1874.44	A	G	HaplotypeScoreFilter13	0/1	119	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.08706	0.08706	0.38592	0.35	0.00		None None	None None None None	None
	View	lf7070	14	rs61732216 dbSNP Clinvar	107179013	344.71	A	G	HaplotypeScoreFilter13	0/1	122	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00240	0.00240	0.12386	0.31	0.74		None None	None None None None	None
	View	lf7070	14	rs17113976 dbSNP Clinvar	107178938	497.02	T	C	HaplotypeScoreFilter13	0/1	148	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.13119	0.13120	0.09136	0.00	0.03		None None	None None None None	None
IGHV3-48
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	lf7070	14	rs34891277 dbSNP Clinvar	106994015	1398.14	G	A	HaplotypeScoreFilter13	0/1	208	SYNONYMOUS_CODING	LOW	SILENT	0.31570	0.31570					None None	None None None None	None
	View	lf7070	14	rs7148607 dbSNP Clinvar	106993945	645.28	T	C	HaplotypeScoreFilter13	0/1	209	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	None
IGHV4-31
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	lf7070	14	rs61739320,rs1039650234 dbSNP Clinvar	106805278	4088.22	A	G	HaplotypeScoreFilter13	0/1	246	SYNONYMOUS_CODING	LOW	SILENT	0.15455	0.15460	0.35959				None None	None None None None	None
	View	lf7070	14	rs61995642,rs1003945054 dbSNP Clinvar	106805408	2632.2	C	T	HaplotypeScoreFilter13	0/1	249	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.16	0.00		None None	None None None None	None
	View	lf7070	14	rs61995641,rs886886501 dbSNP Clinvar	106805395	2807.17	G	A	HaplotypeScoreFilter13	0/1	250	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	None
	View	lf7070	14	rs77489245,rs1026621348 dbSNP Clinvar	106805381	3053.31	T	G	HaplotypeScoreFilter13	0/1	242	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.14257	0.14260	0.28072	1.00	0.00		None None	None None None None	None
	View	lf7070	14	rs943986152,rs61740539 dbSNP Clinvar	106805236	3725.77	C	T	HaplotypeScoreFilter13	0/1	250	SYNONYMOUS_CODING	LOW	SILENT	0.15935	0.15930					None None	None None None None	None
IGSF3
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	lf7070	1	rs647711 dbSNP Clinvar	117122288	64.2	G	C	HaplotypeScoreFilter13	1/1	22	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.26158	0.26160	0.23620	1.00	0.00		None None	None None None None	IGSF3\|0.084306798\|54.35%
IRF2
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	lf7070	4	rs1131553 dbSNP Clinvar	185310218	867.58	C	T	HaplotypeScoreFilter13	0/1	59	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	SILENT	0.42312	0.42310	0.37683				None None	None None None None	IRF2\|0.420786971\|19.54%
KCNJ12
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	lf7070	17	rs1657745 dbSNP Clinvar	21319785	556.73	C	T	HaplotypeScoreFilter13	0/1	84	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	lf7070	17	rs78547883 dbSNP Clinvar	21319786	488.08	G	A	HaplotypeScoreFilter13	0/1	84	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.02	0.84		None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	lf7070	17	rs1612176 dbSNP Clinvar	21319767	731.03	C	T	HaplotypeScoreFilter13	0/1	88	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	lf7070	17	rs2917720 dbSNP Clinvar	21319860	340.0	C	T	HaplotypeScoreFilter13	0/1	38	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	lf7070	17	rs72846668 dbSNP Clinvar	21319311	310.84	C	T	HaplotypeScoreFilter13	0/1	56	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	lf7070	17	rs1657744 dbSNP Clinvar	21319473	672.21	G	A	HaplotypeScoreFilter13	0/1	45	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	lf7070	17	rs1657743 dbSNP Clinvar	21319302	861.5	T	C	HaplotypeScoreFilter13	0/1	54	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	KCNJ12\|0.437556296\|18.82%
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	lf7070	4	rs62272969 dbSNP Clinvar	3590817	221.41	T	C	HaplotypeScoreFilter13	0/1	43	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.59	0.00		None None	None None None None	LINC00955\|0.001348255\|93.6%
MAP1B
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	lf7070	5	rs1866374 dbSNP Clinvar	71490962	923.18	A	G	HaplotypeScoreFilter13	0/1	123	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.90375	0.90380	0.13194	1.00	0.00		None None	None None None None	MAP1B\|0.669819319\|9.38%
MICALCL
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	lf7070	11	rs10741578 dbSNP Clinvar	12315186	2186.21	G	A	HaplotypeScoreFilter13	0/1	185	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.53375	0.53370	0.42427	0.14	0.00		None None	None None None None	MICALCL\|0.003201698\|88.32%
MKI67
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	lf7070	10	rs10082533 dbSNP Clinvar	129901726	747.07	C	T	HaplotypeScoreFilter13	0/1	62	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.23223	0.23220	0.21898	0.24	0.00		None None	None None None None	MKI67\|0.001491806\|92.81%
	View	lf7070	10	rs10082432 dbSNP Clinvar	129901722	686.02	G	A	HaplotypeScoreFilter13	0/1	58	SYNONYMOUS_CODING	LOW	SILENT	0.23203	0.23200	0.21898				None None	None None None None	MKI67\|0.001491806\|92.81%
MUC16
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	lf7070	19	rs4804091 dbSNP Clinvar	9005674	1269.2	G	A	HaplotypeScoreFilter13	0/1	82	SYNONYMOUS_CODING	LOW	SILENT	0.22045	0.22040	0.26490				None None	None None None None	MUC16\|0.001379523\|93.47%
	View	lf7070	19	rs11085765 dbSNP Clinvar	8999453	2130.37	C	T	HaplotypeScoreFilter13	0/1	222	SYNONYMOUS_CODING	LOW	SILENT	0.59844	0.59840	0.41663				None None	None None None None	MUC16\|0.001379523\|93.47%
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	lf7070	7	rs73714243 dbSNP Clinvar	100551719	673.29	C	T	HaplotypeScoreFilter13	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.14	0.00		None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	lf7070	7	rs35523587 dbSNP Clinvar	100550191	1306.44	C	T	HaplotypeScoreFilter13	0/1	239	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.33067	0.33070	0.25881	0.09	0.00		None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	lf7070	7	rs113829577 dbSNP Clinvar	100551711	2118.89	T	C	HaplotypeScoreFilter13	0/1	249	SYNONYMOUS_CODING	LOW	SILENT	0.14836	0.14840	0.18103				None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	lf7070	7	rs73714234 dbSNP Clinvar	100550184	1934.04	C	A	HaplotypeScoreFilter13	0/1	236	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	lf7070	7	rs35420758 dbSNP Clinvar	100549865	1354.5	C	T	HaplotypeScoreFilter13	0/1	168	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.11382	0.11380		0.00	0.00		None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	lf7070	7	rs74193966 dbSNP Clinvar	100549873	1323.25	G	A	HaplotypeScoreFilter13	0/1	162	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00020	0.00020		0.39	0.00		None None	None None None None	MUC3A\|0.001683398\|91.94%
	View	lf7070	7	rs73163794 dbSNP Clinvar	100608826	273.22	C	G	HaplotypeScoreFilter13	0/1	79	SYNONYMOUS_CODING	LOW	SILENT							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	lf7070	3	rs2948677 dbSNP Clinvar	195510786	662.58	T	G	HaplotypeScoreFilter13	0/1	123	SYNONYMOUS_CODING	LOW	SILENT	0.52895	0.52900					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs1036129376,rs141030934 dbSNP Clinvar	195507226	1195.49	A	G	HaplotypeScoreFilter13	0/1	100	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.34385	0.34380		0.43	0.02		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs74957513 dbSNP Clinvar	195507858	1420.97	G	T	HaplotypeScoreFilter13	0/1	173	SYNONYMOUS_CODING	LOW	SILENT	0.54872	0.54870					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs76887830 dbSNP Clinvar	195508101	318.22	A	G	HaplotypeScoreFilter13	0/1	154	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs144571919 dbSNP Clinvar	195508518	337.81	A	G	HaplotypeScoreFilter13	0/1	77	SYNONYMOUS_CODING	LOW	SILENT	0.15535	0.15540					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs71635077 dbSNP Clinvar	195509820	2321.85	A	G	HaplotypeScoreFilter13	0/1	157	SYNONYMOUS_CODING	LOW	SILENT	0.16773	0.16770					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs71635078 dbSNP Clinvar	195509955	979.82	A	C	HaplotypeScoreFilter13	0/1	124	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs963582679,rs2911269 dbSNP Clinvar	195509964	1638.68	A	G	HaplotypeScoreFilter13	0/1	131	SYNONYMOUS_CODING	LOW	SILENT	0.04393	0.04393	0.23086				None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs139925940 dbSNP Clinvar	195509974	381.72	A	G	HaplotypeScoreFilter13	0/1	113	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.59	0.00		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs142559357 dbSNP Clinvar	195510707	532.71	T	G	HaplotypeScoreFilter13	0/1	117	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00779	0.00779		0.28	0.52		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs80005560 dbSNP Clinvar	195510718	514.48	G	T	HaplotypeScoreFilter13	0/1	124	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.05	0.90		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs80145081 dbSNP Clinvar	195510732	512.25	G	A	HaplotypeScoreFilter13	0/1	129	SYNONYMOUS_CODING	LOW	SILENT	0.00739	0.00739					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs62282480 dbSNP Clinvar	195510749	954.82	C	A	HaplotypeScoreFilter13	0/1	128	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.31949	0.31950		1.00	0.37		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs2911273 dbSNP Clinvar	195510762	592.19	G	A	HaplotypeScoreFilter13	0/1	128	SYNONYMOUS_CODING	LOW	SILENT	0.52436	0.52440					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs79949955 dbSNP Clinvar	195510766	331.62	G	T	HaplotypeScoreFilter13	0/1	129	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.07987	0.07987		0.02	0.90		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs2911272 dbSNP Clinvar	195510773	1043.37	A	G	HaplotypeScoreFilter13	0/1	124	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.65076	0.65080		0.42	0.32		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs71321841 dbSNP Clinvar	195513345	345.15	A	C	HaplotypeScoreFilter13	0/1	106	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs77396971 dbSNP Clinvar	195513426	340.78	G	T	HaplotypeScoreFilter13	0/1	125	SYNONYMOUS_CODING	LOW	SILENT	0.29932	0.29930					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs3103959 dbSNP Clinvar	195513779	374.88	C	T	HaplotypeScoreFilter13	0/1	146	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.19	0.49		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs79661483 dbSNP Clinvar	195515340	1106.86	G	A	HaplotypeScoreFilter13	0/1	106	SYNONYMOUS_CODING	LOW	SILENT	0.20028	0.20030					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	lf7070	3	rs75588776 dbSNP Clinvar	195512212	716.38	G	T	HaplotypeScoreFilter13	0/1	171	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				0.00	0.90		None None	None None None None	MUC4\|0.005441696\|85.29%
MUC5B
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	lf7070	11	rs2943512 dbSNP Clinvar	1272226	1404.44	A	C	HaplotypeScoreFilter13	0/1	106	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.54034	0.54030	0.46980	0.26	0.00		None None	None None None None	MUC5B\|0.001251586\|94.15%
MUC6
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	lf7070	11	rs34740154 dbSNP Clinvar	1016834	2225.76	G	A	HaplotypeScoreFilter13	0/1	250	SYNONYMOUS_CODING	LOW	SILENT	0.00180	0.00180					None None	None None None None	MUC6\|0.00166044\|92.04%
	View	lf7070	11	rs3208810 dbSNP Clinvar	1016724	1258.3	A	G	HaplotypeScoreFilter13	0/1	246	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00100	0.00100		1.00	0.00		None None	None None None None	MUC6\|0.00166044\|92.04%
	View	lf7070	11	rs76406481 dbSNP Clinvar	1016713	742.95	T	C	HaplotypeScoreFilter13	0/1	250	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00080	0.00080		0.74	0.00		None None	None None None None	MUC6\|0.00166044\|92.04%
	View	lf7070	11	rs75826443 dbSNP Clinvar	1016704	714.21	C	A	HaplotypeScoreFilter13	0/1	248	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	MUC6\|0.00166044\|92.04%
	View	lf7070	11	rs77438942 dbSNP Clinvar	1016665	1302.24	C	T	HaplotypeScoreFilter13	0/1	248	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE				1.00	0.00		None None	None None None None	MUC6\|0.00166044\|92.04%