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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ACAN, ALG1, ALMS1, ANAPC1, AQP7, CCDC8, CDK11B, CFH, CFHR1, CFTR, CYP2A6, CYP4F2, DDX11, DSPP, DUX4L4, EPPK1, F5, FMN2, FRG1, FRG1B, HLA-C, HLA-DRB1, HLA-DRB5, HRC, HS6ST1, HYDIN, KCNJ12, KIR2DL1, KIR2DL4, KIR3DL2, MUC2, MUC3A, MUC4, MUC6, NBPF1, NBPF15, NPAP1, OVGP1, PKD1, PLIN4, PPIAL4G, PRB1, PRB2, PRB3, PRB4, PRSS1, PRSS3, RANBP2, RP1L1, SELPLG, SETD8, SIGLEC10, SPRR3, SPTA1, TAS2R19, TAS2R30, TAS2R43, TEP1, TIMM44, TPTE, TRIM5, TROAP, VCX, VCX3A, ZAN, ZNF484, ZNF674,

+ Genes associated with diseases 22

Genes at Omim

ACAN, ALG1, ALMS1, AQP7, CCDC8, CFH, CFHR1, CFTR, CYP2A6, DDX11, DSPP, F5, FMN2, HLA-C, HLA-DRB1, HS6ST1, HYDIN, PKD1, PRSS1, RANBP2, RP1L1, SPTA1,

ACAN	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3) ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
ALG1	Congenital disorder of glycosylation, type Ik, 608540 (3)
ALMS1	Alstrom syndrome, 203800 (3)
AQP7	[Glycerol quantitative trait locus], 614411 (3)
CCDC8	3-M syndrome 3, 614205 (3)
CFH	Basal laminar drusen, 126700 (3) {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3) {Macular degeneration, age-related, 4}, 610698 (3) Complement factor H deficiency, 609814 (3)
CFHR1	{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) {Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFTR	{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3) {Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3)
CYP2A6	{Lung cancer, resistance to}, 211980 (3) Coumarin resistance, 122700 (3) {Nicotine addiction, protection from}, 188890 (3)
DDX11	Warsaw breakage syndrome, 613398 (3)
DSPP	Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3) Dentin dysplasia, type II, 125420 (3) Dentinogenesis imperfecta, Shields type II, 125490 (3) Dentinogenesis imperfecta, Shields type III, 125500 (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)
FMN2	Mental retardation, autosomal recessive 47, 616193 (3)
HLA-C	{HIV-1 viremia, susceptibility to}, 609423 (3) {Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HS6ST1	{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
PKD1	Polycystic kidney disease 1, 173900 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
RANBP2	{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)
RP1L1	Occult macular dystrophy, 613587 (3)
SPTA1	Elliptocytosis-2, 130600 (3) Pyropoikilocytosis, 266140 (3) Spherocytosis, type 3, 270970 (3)

Genes at Clinical Genomics Database

ACAN, ALG1, ALMS1, CCDC8, CFH, CFHR1, CFTR, CYP2A6, CYP4F2, DDX11, DSPP, F5, FMN2, HS6ST1, PKD1, PRSS1, RANBP2, RP1L1, SPTA1, ZNF674,

ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ALG1	Congenital disorder of glycosylation, type Ik
ALMS1	Alstrom syndrome
CCDC8	Three M syndrome 3
CFH	Hemolytic uremic syndrome, atypical Complement factor H deficiency
CFHR1	Hemolytic-uremic syndrome, atypical, susceptibility to
CFTR	Cystic fibrosis
CYP2A6	CYP2A6-related drug metabolism
CYP4F2	Warfarin metabolism
DDX11	Warsaw breakage syndrome
DSPP	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 Dentinogenesis imperfecta, Shields type II Dentinogenesis imperfecta, Shields type III Dentin dysplasia, type II
F5	Thrombophilia due to activated protein C resistance Factor V deficiency
FMN2	Mental retardation, autosomal recessive, 47
HS6ST1	Hypogonadotropic hypogonadism 15, with or without anosmia
PKD1	Polycystic kidney disease, adult type I
PRSS1	Pancreatitis, hereditary
RANBP2	Encephalopathy, acute, infection-induced, 3, susceptibility to
RP1L1	Occult macular dystrophy Retinitis pigmentosa, autosomal recessive
SPTA1	Spherocytosis, type 3 Pyropoikilocytosis , hereditary Ellipsocytosis 2
ZNF674	Mental retardation, X-linked 92

Genes at HGMD

Summary

Number of Variants: 405
Number of Genes: 67

Export to: CSV

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ACAN
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	16hpc01703_s1 genome	15	rs200194458 dbSNP Clinvar	89398769	142.22	A	G	LowQD	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.00120	0.00120		0.12	0.05		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	16hpc01703_s1 genome	15	rs200437529 dbSNP Clinvar	89400137	77.39	A	G	LowQD	0/1	59	NON_SYNONYMOUS_CODING	MODERATE	None				0.44	0.19		None None	None None None None	ACAN\|0.017538305\|75.58%
ALG1
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	16hpc01703_s1 genome	16	.	5134779	83.11	C	A	LowQD	0/1	279	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.01		None None	None None None None	ALG1\|0.0336465\|67.9%,EEF2KMT\|0.00596739\|84.61%
ALMS1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	16hpc01703_s1 genome	2	.	73679534	34.46	C	A	LowQD	0/1	117	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ALMS1\|0.012791041\|78.65%
ANAPC1
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	16hpc01703_s1 genome	2	rs72936240 dbSNP Clinvar	112614429	146.36	G	A	LowQD	0/1	162	STOP_GAINED	HIGH	None							None None	None None None None	ANAPC1\|0.14646446\|43.53%
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	16hpc01703_s1 genome	9	rs76209395 dbSNP Clinvar	33386144	293.42	G	A	LowQD	0/1	161	SYNONYMOUS_CODING	LOW	None						4.77	0.04 0.59886 D	None None None None	AQP7\|0.012677613\|78.76%
	View	16hpc01703_s1 genome	9	rs117066088 dbSNP Clinvar	33385600	95.59	G	A	LowQD	0/1	67	None	None	None				0.00	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	16hpc01703_s1 genome	9	rs74557595 dbSNP Clinvar	33385287	235.88	T	C	LowQD	0/1	167	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None				0.15	0.00		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	16hpc01703_s1 genome	9	rs139024279 dbSNP Clinvar	33385690	131.98	G	T	LowQD	0/1	121	NON_SYNONYMOUS_CODING	MODERATE	None		0.00020		0.03	0.46		None None	None None None None	AQP7\|0.012677613\|78.76%
	View	16hpc01703_s1 genome	9	rs79779983 dbSNP Clinvar	33385667	239.02	A	G	LowQD	0/1	120	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AQP7\|0.012677613\|78.76%
	View	16hpc01703_s1 genome	9	rs116294914 dbSNP Clinvar	33385709	159.5	C	T	LowQD	0/1	126	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	AQP7\|0.012677613\|78.76%
	View	16hpc01703_s1 genome	9	rs145516206 dbSNP Clinvar	33385698	178.26	A	G	LowQD	0/1	123	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.06		None None	None None None None	AQP7\|0.012677613\|78.76%
CCDC8
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	16hpc01703_s1 genome	19	rs878968526 dbSNP Clinvar	46915017	503.13	C	G	LowQD	0/1	289	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	CCDC8\|0.002358405\|90.02%
CDK11B
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	16hpc01703_s1 genome	1	rs200227742 dbSNP Clinvar	1575784	448.44	C	T	LowQD	0/1	258	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	CDK11B\|0.035106536\|67.44%
	View	16hpc01703_s1 genome	1	rs138980727 dbSNP Clinvar	1573181	127.08	C	A	LowQD	0/1	155	SYNONYMOUS_CODING	LOW	None			0.02909				None None	None None None None	CDK11B\|0.035106536\|67.44%
CFH
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	16hpc01703_s1 genome	1	rs61822181 dbSNP Clinvar	196712586	157.33	C	T	LowQD	0/1	84	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CFH\|0.021522909\|73.44%
CFHR1
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	16hpc01703_s1 genome	1	rs425757 dbSNP Clinvar	196797238	49.88	C	T	LowQD	0/1	73	NON_SYNONYMOUS_CODING	MODERATE	None			0.30586	1.00	0.00		None None	None None None None	CFHR1\|0.001540136\|92.58%,CFHR2\|0.000734452\|97.12%
CFTR
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	16hpc01703_s1 genome	7	rs4727853 dbSNP Clinvar	117188736	90.95	C	A	LowQD	0/1	69	NON_SYNONYMOUS_CODING	MODERATE	None				0.46	0.00		None None	None None None None	CFTR\|0.947527653\|2.33%
CYP2A6
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	16hpc01703_s1 genome	19	rs2302990 dbSNP Clinvar	41355849	72.84	A	G	LowQD	0/1	159	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CYP2A6\|0.439107836\|18.72%
CYP4F2
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	16hpc01703_s1 genome	19	rs3952537 dbSNP Clinvar	15989696	192.68	G	C	LowQD	0/1	306	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.25		None None	None None None None	CYP4F2\|0.005649881\|85.05%
	View	16hpc01703_s1 genome	19	rs4020346 dbSNP Clinvar	15989730	507.61	T	C	LowQD	0/1	258	NON_SYNONYMOUS_CODING	MODERATE	None				0.29	0.01		None None	None None None None	CYP4F2\|0.005649881\|85.05%
DDX11
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	16hpc01703_s1 genome	12	rs74439745 dbSNP Clinvar	31244703	110.1	C	T	LowQD	0/1	292	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DDX11\|0.01203892\|79.21%
DSPP
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	16hpc01703_s1 genome	4	rs373805744 dbSNP Clinvar	88537078	150.94	T	C	LowQD	0/1	86	SYNONYMOUS_CODING	LOW	None	0.22923	0.22920					None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs111216224 dbSNP Clinvar	88537279	222.68	C	T	LowQD	0/1	386	SYNONYMOUS_CODING	LOW	None	0.36801	0.36800					None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs111205184 dbSNP Clinvar	88537378	540.44	T	C	LowQD	0/1	369	SYNONYMOUS_CODING	LOW	None	0.10803	0.10800	0.10896				None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs115597449 dbSNP Clinvar	88537423	316.54	T	C	LowQD	0/1	212	SYNONYMOUS_CODING	LOW	None	0.10823	0.10820	0.09735				None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs111876111 dbSNP Clinvar	88537509	152.36	A	G	LowQD	0/1	208	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs112542308 dbSNP Clinvar	88537556	135.88	A	G	LowQD	0/1	415	NON_SYNONYMOUS_CODING	MODERATE	None			0.03674		0.00		None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs111205175 dbSNP Clinvar	88536448	744.42	C	T	LowQD	0/1	374	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs111216113 dbSNP Clinvar	88536692	248.82	A	G	LowQD	0/1	335	NON_SYNONYMOUS_CODING	MODERATE	None	0.47464	0.47460	0.40178		0.00		None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs62642443 dbSNP Clinvar	88536818	600.68	A	G	LowQD	0/1	329	NON_SYNONYMOUS_CODING	MODERATE	None	0.22524	0.22520	0.24383		0.00		None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	.	88537000	100.9	C	T	LowQD	0/1	293	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs147160873 dbSNP Clinvar	88536031	124.15	C	T	LowQD	0/1	220	SYNONYMOUS_CODING	LOW	None			0.02081				None None	None None None None	DSPP\|0.054175637\|61.42%
	View	16hpc01703_s1 genome	4	rs111216234 dbSNP Clinvar	88537276	38.53	T	C	LowQD	0/1	381	SYNONYMOUS_CODING	LOW	None	0.36801	0.36800					None None	None None None None	DSPP\|0.054175637\|61.42%
DUX4L4
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	16hpc01703_s1 genome	4	rs200991186 dbSNP Clinvar	191003238	649.81	G	A	LowQD	0/1	345	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	16hpc01703_s1 genome	4	rs75825492 dbSNP Clinvar	191003241	171.74	G	A	LowQD	0/1	348	STOP_GAINED	HIGH	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	16hpc01703_s1 genome	4	rs72499998 dbSNP Clinvar	191003262	222.81	T	C	LowQD	0/1	298	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	16hpc01703_s1 genome	4	rs78443540 dbSNP Clinvar	191003279	138.61	C	T	LowQD	0/1	339	NON_SYNONYMOUS_CODING	MODERATE	None				0.10	0.01		None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	16hpc01703_s1 genome	4	rs782220148 dbSNP Clinvar	191003280	392.16	G	A	LowQD	0/1	316	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	16hpc01703_s1 genome	4	.	191003277	171.35	C	A	LowQD	0/1	334	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	16hpc01703_s1 genome	4	rs534089506 dbSNP Clinvar	191003220	376.83	C	G	LowQD	0/1	354	SYNONYMOUS_CODING	LOW	None	0.00419	0.00419					None None	None None None None	DUX4L4\|0.001517207\|92.7%
	View	16hpc01703_s1 genome	4	rs199597415 dbSNP Clinvar	191003226	79.11	C	G	LowQD	0/1	356	SYNONYMOUS_CODING	LOW	None							None None	None None None None	DUX4L4\|0.001517207\|92.7%
EPPK1
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	16hpc01703_s1 genome	8	rs6990098 dbSNP Clinvar	144940222	92.96	A	C	LowQD	0/1	58	SYNONYMOUS_CODING	LOW	None							None None	None None None None	EPPK1\|0.004907463\|85.91%
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	16hpc01703_s1 genome	1	.	169510226	57.48	G	A	LowQD	0/1	59	SYNONYMOUS_CODING	LOW	None							None None	None None None None	F5\|0.038758204\|66.18%
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	16hpc01703_s1 genome	1	rs111896385 dbSNP Clinvar	240370985	94.41	C	T	LowQD	0/1	50	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	FMN2\|0.565952775\|13.15%
FRG1
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	16hpc01703_s1 genome	4	rs200620299 dbSNP Clinvar	190874234	144.25	C	T	LowQD	0/1	125	NON_SYNONYMOUS_CODING	MODERATE	None				0.01	1.00		None None	None None None None	FRG1\|0.098149242\|51.5%
	View	16hpc01703_s1 genome	4	rs17425201 dbSNP Clinvar	190874255	124.27	A	T	LowQD	0/1	106	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.22		None None	None None None None	FRG1\|0.098149242\|51.5%
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	16hpc01703_s1 genome	20	rs371493541 dbSNP Clinvar	29623254	158.19	G	A	LowQD	0/1	130	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None							None None	None None None None	FRG1B\|0.009509512\|81.26%
	View	16hpc01703_s1 genome	20	rs368763678 dbSNP Clinvar	29623218	266.01	A	G	LowQD	0/1	179	SYNONYMOUS_CODING	LOW	None	0.06350	0.06350					None None	None None None None	FRG1B\|0.009509512\|81.26%
	View	16hpc01703_s1 genome	20	rs756891068 dbSNP Clinvar	29623217	141.66	C	T	LowQD	0/1	181	NON_SYNONYMOUS_CODING	MODERATE	None				0.05	0.04		None None	None None None None	FRG1B\|0.009509512\|81.26%
	View	16hpc01703_s1 genome	20	rs375238322 dbSNP Clinvar	29632635	1026.22	C	G	LowQD	0/1	515	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.26		None None	None None None None	FRG1B\|0.009509512\|81.26%
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	16hpc01703_s1 genome	6	rs1131119 dbSNP Clinvar	31239116	434.92	G	A	LowQD	0/1	221	NON_SYNONYMOUS_CODING	MODERATE	None				0.03	0.05		None None	None None None None	HLA-C\|0.028815016\|70%
HLA-DRB1
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	16hpc01703_s1 genome	6	rs17887154 dbSNP Clinvar	32548032	85.39	T	G	LowQD	0/1	54	NON_SYNONYMOUS_CODING	MODERATE	None			0.00170	0.22	0.00		None None	None None None None	HLA-DRB1\|0.032266025\|68.49%
HLA-DRB5
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	16hpc01703_s1 genome	6	rs796754225 dbSNP Clinvar	32497908	172.91	T	G	LowQD	0/1	186	NON_SYNONYMOUS_CODING	MODERATE	None				0.24	0.28		None None	None None None None	HLA-DRB5\|0.020830666\|73.74%
	View	16hpc01703_s1 genome	6	rs368120633 dbSNP Clinvar	32497934	202.67	C	G	LowQD	0/1	184	NON_SYNONYMOUS_CODING	MODERATE	None				0.07	1.00		None None	None None None None	HLA-DRB5\|0.020830666\|73.74%
	View	16hpc01703_s1 genome	6	rs112401921 dbSNP Clinvar	32487256	38.48	G	A	LowQD	0/1	26	SYNONYMOUS_CODING	LOW	None	0.06050	0.06050	0.05585				None None	None None None None	HLA-DRB5\|0.020830666\|73.74%
HRC
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	16hpc01703_s1 genome	19	rs144793394 dbSNP Clinvar	49657583	89.05	G	A	LowQD	0/1	62	SYNONYMOUS_CODING	LOW	None	0.04952	0.04952					None None	None None None None	HRC\|0.0162712\|76.28%
	View	16hpc01703_s1 genome	19	rs144084340 dbSNP Clinvar	49657530	53.45	T	C	LowQD	0/1	101	NON_SYNONYMOUS_CODING	MODERATE	None	0.01258	0.01258		1.00	0.01		None None	None None None None	HRC\|0.0162712\|76.28%
	View	16hpc01703_s1 genome	19	rs139584333 dbSNP Clinvar	49657527	143.93	T	C	LowQD	0/1	96	NON_SYNONYMOUS_CODING	MODERATE	None	0.01258	0.01258		1.00	0.00		None None	None None None None	HRC\|0.0162712\|76.28%
	View	16hpc01703_s1 genome	19	rs763482766 dbSNP Clinvar	49657503	141.96	G	T	LowQD	0/1	90	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	HRC\|0.0162712\|76.28%
	View	16hpc01703_s1 genome	19	.	49657751	36.61	A	T	LowQD	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	None				0.39	0.06		None None	None None None None	HRC\|0.0162712\|76.28%
	View	16hpc01703_s1 genome	19	rs146916743 dbSNP Clinvar	49657531	153.34	G	C	LowQD	0/1	103	NON_SYNONYMOUS_CODING	MODERATE	None	0.01258	0.01258		0.07	0.40		None None	None None None None	HRC\|0.0162712\|76.28%
HS6ST1
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	16hpc01703_s1 genome	2	rs200979099 dbSNP Clinvar	129075877	205.54	G	T	LowQD	0/1	224	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	HS6ST1\|0.121406493\|47.24%
HYDIN
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	16hpc01703_s1 genome	16	rs62040318 dbSNP Clinvar	71122408	36.6	C	T	LowQD	0/1	19	NON_SYNONYMOUS_CODING	MODERATE	None					0.73		None None	None None None None	HYDIN\|0.080749251\|55.02%
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	16hpc01703_s1 genome	17	rs76681424 dbSNP Clinvar	21319728	169.38	T	C	LowQD	0/1	110	SYNONYMOUS_CODING	LOW	None							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	16hpc01703_s1 genome	17	rs80203231 dbSNP Clinvar	21319682	261.26	C	T	LowQD	0/1	166	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.47		None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	16hpc01703_s1 genome	17	rs3752034 dbSNP Clinvar	21318773	68.97	G	A	LowQD	0/1	92	NON_SYNONYMOUS_CODING	MODERATE	None	0.34625	0.34620	0.25135	0.12	0.04		None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	16hpc01703_s1 genome	17	rs4985866 dbSNP Clinvar	21319399	72.69	A	G	LowQD	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	None			0.25211	0.53	0.00		None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	16hpc01703_s1 genome	17	rs72846670 dbSNP Clinvar	21319845	84.92	C	T	LowQD	0/1	47	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	16hpc01703_s1 genome	17	rs76267885 dbSNP Clinvar	21319743	179.96	A	G	LowQD	0/1	99	SYNONYMOUS_CODING	LOW	None							None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	16hpc01703_s1 genome	17	rs3752033 dbSNP Clinvar	21318770	94.6	G	A	LowQD	0/1	92	NON_SYNONYMOUS_CODING	MODERATE	None	0.34625	0.34620	0.21682	0.11	0.66		None None	None None None None	KCNJ12\|0.437556296\|18.82%
	View	16hpc01703_s1 genome	17	rs78135255 dbSNP Clinvar	21319716	160.87	G	A	LowQD	0/1	143	SYNONYMOUS_CODING	LOW	None							None None	None None None None	KCNJ12\|0.437556296\|18.82%
KIR2DL1
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	16hpc01703_s1 genome	19	rs199644153 dbSNP Clinvar	55286665	207.07	T	A	LowQD	0/1	135	NON_SYNONYMOUS_CODING	MODERATE	None				0.75	0.00		None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR2DL4\|0.000718329\|97.16%,KIR2DL3\|0.000872917\|96.18%,KIR2DL1\|0.000975472\|95.6%
KIR2DL4
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	16hpc01703_s1 genome	19	rs112694450 dbSNP Clinvar	55317541	222.84	T	C	LowQD	0/1	112	NON_SYNONYMOUS_CODING	MODERATE	None				0.22	0.01		None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR2DL4\|0.000718329\|97.16%
	View	16hpc01703_s1 genome	19	rs746343340 dbSNP Clinvar	55317490	220.24	A	G	LowQD	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None				0.66	0.00		None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR2DL4\|0.000718329\|97.16%
	View	16hpc01703_s1 genome	19	rs796093143 dbSNP Clinvar	55317529	192.22	A	G	LowQD	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None				0.22	0.03		None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR2DL4\|0.000718329\|97.16%
	View	16hpc01703_s1 genome	19	rs540514355 dbSNP Clinvar	55317528	144.29	G	A	LowQD	0/1	112	NON_SYNONYMOUS_CODING	MODERATE	None	0.00020	0.00020		0.35	0.09		None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR2DL4\|0.000718329\|97.16%
KIR3DL2
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	16hpc01703_s1 genome	19	rs985925024 dbSNP Clinvar	55367083	60.4	A	G	LowQD	0/1	134	NON_SYNONYMOUS_CODING	MODERATE	None				0.21	0.00		None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR3DL2\|0.000627152\|97.71%
	View	16hpc01703_s1 genome	19	rs953284565 dbSNP Clinvar	55367080	65.66	A	T	LowQD	0/1	135	NON_SYNONYMOUS_CODING	MODERATE	None				0.08	0.02		None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR3DL2\|0.000627152\|97.71%
	View	16hpc01703_s1 genome	19	.	55367093	70.39	T	A	LowQD	0/1	137	SYNONYMOUS_CODING	LOW	None							None None	None None None None	KIR3DL1\|0.000640018\|97.61%,KIR3DL2\|0.000627152\|97.71%
MUC2
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	16hpc01703_s1 genome	11	rs200369243 dbSNP Clinvar	1093622	644.89	T	C	LowQD	0/1	335	NON_SYNONYMOUS_CODING	MODERATE	None		0.00499			0.00		None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs79238439 dbSNP Clinvar	1093549	494.76	G	C	LowQD	0/1	554	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs80200693 dbSNP Clinvar	1093537	247.97	A	C	LowQD	0/1	589	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs34493663 dbSNP Clinvar	1093512	964.87	C	A	LowQD	0/1	505	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs34136803 dbSNP Clinvar	1093452	901.89	G	A	LowQD	0/1	559	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs12575990 dbSNP Clinvar	1093072	642.6	G	C	LowQD	0/1	690	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs56219745 dbSNP Clinvar	1092872	3747.81	C	G	LowQD	0/1	1952	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs77094665 dbSNP Clinvar	1092760	485.56	A	C	LowQD	0/1	622	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs111163720 dbSNP Clinvar	1092684	1072.17	C	T	LowQD	0/1	629	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	rs149562922 dbSNP Clinvar	1092643	388.55	A	C	LowQD	0/1	536	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC2\|0.013216618\|78.34%
	View	16hpc01703_s1 genome	11	.	1092390	190.77	T	A	LowQD	0/1	242	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC2\|0.013216618\|78.34%
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	16hpc01703_s1 genome	7	rs75597914 dbSNP Clinvar	100552384	50.45	A	G	LowQD	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None				0.16	0.01		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	16hpc01703_s1 genome	3	rs75737861 dbSNP Clinvar	195507365	215.36	G	A	LowQD	0/1	137	NON_SYNONYMOUS_CODING	MODERATE	None	0.03854	0.03854			0.65		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	16hpc01703_s1 genome	3	rs201606039 dbSNP Clinvar	195515507	30.4	C	G	LowQD	0/1	150	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.00060			0.00		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	16hpc01703_s1 genome	3	rs199696565 dbSNP Clinvar	195515470	126.76	T	G	LowQD	0/1	154	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC4\|0.005441696\|85.29%
	View	16hpc01703_s1 genome	3	rs756935454 dbSNP Clinvar	195515460	232.85	A	G	LowQD	0/1	134	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	16hpc01703_s1 genome	3	rs79661483 dbSNP Clinvar	195515340	189.25	G	A	LowQD	0/1	146	SYNONYMOUS_CODING	LOW	None	0.20028	0.20030					None None	None None None None	MUC4\|0.005441696\|85.29%
	View	16hpc01703_s1 genome	3	rs200702396 dbSNP Clinvar	195514359	110.02	A	G	LowQD	0/1	73	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	16hpc01703_s1 genome	3	rs200676464 dbSNP Clinvar	195513717	324.49	A	G	LowQD	0/1	337	SYNONYMOUS_CODING	LOW	None							None None	None None None None	MUC4\|0.005441696\|85.29%
	View	16hpc01703_s1 genome	3	rs202065211 dbSNP Clinvar	195513289	45.48	A	G	LowQD	0/1	219	NON_SYNONYMOUS_CODING	MODERATE	None					0.00		None None	None None None None	MUC4\|0.005441696\|85.29%