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

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Genes:
ABCC4, ANKRD10, ATP11A, ATP12A, ATP4B, ATP7B, ATP8A2, B3GALTL, BIVM, BORA, BRCA2, C13orf45, C1QTNF9, C1QTNF9B, CAB39L, CARS2, CCDC168, CCDC169, CCDC169-SOHLH2, CCDC70, CDC16, CDX2, CENPJ, CHAMP1, CKAP2, CLN5, CLYBL, COG3, COG6, COL4A1, COL4A2, CPB2, CRYL1, CSNK1A1L, DACH1, DAOA, DCLK1, DCT, DGKH, DHRS12, DIS3, DLEU7, DNAJC15, DOCK9, DZIP1, EDNRB, EFNB2, ENOX1, EPSTI1, ERCC5, ESD, EXOSC8, F10, FAM155A, FARP1, FGF9, FLT1, FLT3, FNDC3A, FREM2, FRY, GAS6, GJA3, GPR180, GPR183, GRK1, GSX1, GTF2F2, GTF3A, HMGB1, HNRNPA1L2, HSPH1, HTR2A, IFT88, ING1, IRG1, IRS2, ITGBL1, KBTBD6, KBTBD7, KCTD12, KDELC1, KL, KLF12, KLF5, KPNA3, LAMP1, LATS2, LMO7, LNX2, LRCH1, MCF2L, MEDAG, METTL21C, MIPEP, MLNR, MPHOSPH8, MTIF3, MTMR6, MTRF1, MTUS2, MYCBP2, MYO16, MZT1, N4BP2L2, NAA16, NALCN, NDFIP2, NEK3, NHLRC3, NUPL1, OLFM4, PABPC3, PARP4, PCDH20, PCDH9, PHF11, PIBF1, PROZ, PRR20B, PSPC1, RAB20, RASA3, RBM26, RCBTB1, RFXAP, RGCC, RNASEH2B, RNF113B, RNF17, RNF219, RXFP2, SACS, SAP18, SCEL, SERPINE3, SETDB2, SGCG, SHISA2, SKA3, SLAIN1, SLC10A2, SLC15A1, SLC25A15, SLC7A1, SLITRK6, SOX21, SPACA7, SPATA13, SPERT, SPRY2, STARD13, STK24, SUPT20H, TBC1D4, TEX29, THSD1, TMCO3, TMEM255B, TMTC4, TNFRSF19, TNFSF11, TPP2, TPTE2, TUBA3C, UFM1, UGGT2, UPF3A, URAD, USPL1, UTP14C, VWA8, WASF3, ZC3H13, ZIC5, ZMYM5,

+ Genes associated with diseases 40

Genes at Omim

ATP7B, ATP8A2, BRCA2, CARS2, CENPJ, CHAMP1, CLN5, COG6, COL4A1, COL4A2, DAOA, EDNRB, ERCC5, EXOSC8, F10, FGF9, FLT3, FREM2, GJA3, GRK1, HTR2A, ING1, IRS2, KL, MIPEP, NALCN, PIBF1, PROZ, RCBTB1, RFXAP, RNASEH2B, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPRY2, TBC1D4, TNFSF11, UFM1,

ATP7B	Wilson disease, 277900 (3)
ATP8A2	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
BRCA2	Fanconi anemia, complementation group D1, 605724 (3) {Glioblastoma 3}, 613029 (3) {Medulloblastoma}, 155255 (3) {Pancreatic cancer 2}, 613347 (3) {Prostate cancer}, 176807 (3) Wilms tumor, 194070 (3) {Breast cancer, male, susceptibility to}, 114480 (3) {Breast-ovarian cancer, familial, 2}, 612555 (3)
CARS2	Combined oxidative phosphorylation deficiency 27, 616672 (3)
CENPJ	Microcephaly 6, primary, autosomal recessive, 608393 (3) ?Seckel syndrome 4, 613676 (3)
CHAMP1	Mental retardation, autosomal dominant 40, 616579 (3)
CLN5	Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
COG6	Congenital disorder of glycosylation, type IIl, 614576 (3) Shaheen syndrome, 615328 (3)
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
DAOA	{Schizophrenia}, 181500 (2)
EDNRB	{Hirschsprung disease, susceptibility to, 2}, 600155 (3) ABCD syndrome, 600501 (3) Waardenburg syndrome, type 4A, 277580 (3)
ERCC5	Cerebrooculofacioskeletal syndrome 3, 616570 (3) Xeroderma pigmentosum, group G, 278780 (3) Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)
EXOSC8	Pontocerebellar hypoplasia, type 1C, 616081 (3)
F10	Factor X deficiency, 227600 (3)
FGF9	Multiple synostoses syndrome 3, 612961 (3)
FLT3	Leukemia, acute lymphoblastic, somatic, 613065 (3) Leukemia, acute myeloid, reduced survival in, somatic, 601626 (3) Leukemia, acute myeloid, somatic, 601626 (3)
FREM2	Fraser syndrome 2, 617666 (3)
GJA3	Cataract 14, multiple types, 601885 (3)
GRK1	Oguchi disease-2, 613411 (3)
HTR2A	{Major depressive disorder, response to citalopram therapy in}, 608516 (3) {Obsessive-compulsive disorder, susceptibility to}, 164230 (3) {Schizophrenia, susceptibility to}, 181500 (3) {Seasonal affective disorder, susceptibility to}, 608516 (3) {Alcohol dependence, susceptibility to}, 103780 (3) {Anorexia nervosa, susceptibility to}, 606788 (3)
ING1	Squamous cell carcinoma, head and neck, somatic, 275355 (3)
IRS2	{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KL	?Tumoral calcinosis, hyperphosphatemic, familial, 3, 617994 (3)
MIPEP	Combined oxidative phosphorylation deficiency 31, 617228 (3)
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3) Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
PIBF1	Joubert syndrome 33, 617767 (3)
PROZ	[Protein Z deficiency], 614024 (3)
RCBTB1	Retinal dystrophy with or without extraocular anomalies, 617175 (3)
RFXAP	Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
RNASEH2B	Aicardi-Goutieres syndrome 2, 610181 (3)
SACS	Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SGCG	Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 (3)
SLC10A2	Bile acid malabsorption, primary, 613291 (3)
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
SLITRK6	Deafness and myopia, 221200 (3)
SPRY2	{?IgA nephropathy, susceptibility to, 3}, 616818 (3)
TBC1D4	{Diabetes mellitus, noninsulin-dependent, 5}, 616087 (3)
TNFSF11	Osteopetrosis, autosomal recessive 2, 259710 (3)
UFM1	Leukodystrophy, hypomyelinating, 14, 617899 (3)

Genes at Clinical Genomics Database

ATP7B, BRCA2, CARS2, CENPJ, CHAMP1, CLN5, COG6, COL4A1, COL4A2, EDNRB, ERCC5, EXOSC8, F10, FGF9, FREM2, GJA3, GRK1, HTR2A, IFT88, KL, NALCN, PROZ, RFXAP, RNASEH2B, RXFP2, SACS, SGCG, SLC10A2, SLC25A15, SLITRK6, SPRY2, TBC1D4, TNFSF11,

ATP7B	Wilson disease
BRCA2	Breast-ovarian cancer, familial, susceptibility to Pancreatic cancer, susceptibility to, 2 Glioma susceptibility 3 Fanconi anemia, complementation group D1 Wilms tumor Medulloblastoma
CARS2	Combined oxidative phosphorylation deficiency 27
CENPJ	Seckel syndrome 4 Microcephaly, primary autosomal recessive, 6
CHAMP1	Mental retardation, autosomal dominant 40
CLN5	Ceroid lipofuscinosis, neuronal, 5
COG6	Congenital disorder of glycosylation, type Iil
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly
COL4A2	Hemorrhage, intracerebral, susceptibility to
EDNRB	Waardenburg syndrome type 4A ABCD syndrome Hirschsprung disease, susceptibility to, 2
ERCC5	Xeroderma pigmentosum, group G Xeroderma pigmentosum, group G/Cockayne syndrome
EXOSC8	Pontocerebellar hypoplasia, type 1C
F10	Factor X deficiency
FGF9	Multiple synostoses syndrome 3
FREM2	Fraser syndrome
GJA3	Cataract 14, multiple types
GRK1	Oguchi disease 2
HTR2A	Major depressive disorder, response to citalopram therapy in Clozapine, response to
IFT88	Ciliopathy, IFT88-related
KL	Tumoral calcinosis, hyperphosphatemic
NALCN	Congenital contractures of the limbs and face, hypotonia, and developmental delay Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
PROZ	Protein Z deficiency
RFXAP	Bare lymphocyte syndrome, type II
RNASEH2B	Aicardi-Goutieres syndrome 2
RXFP2	Cryptorchidism
SACS	Spastic ataxia, Charlevoix-Saguenay type
SGCG	Muscular dystrophy, limb-girdle, type 2C
SLC10A2	Bile acid malabsorption, primary
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLITRK6	Deafness and myopia
SPRY2	IgA nephropathy, susceptibility to, 3
TBC1D4	Diabetes mellitus, noninsulin-dependent 5
TNFSF11	Osteopetrosis, autosomal recessive 2

Genes at HGMD

Summary

Number of Variants: 1797
Number of Genes: 176

Export to: CSV

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ABCC4
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2274406 dbSNP Clinvar	95858996	2855.9	T	C	.	0/1	97	SYNONYMOUS_CODING	LOW	None	0.51817	0.51820	0.43911				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2274405 dbSNP Clinvar	95858978	21452.3	T	C	.	1/1	107	SYNONYMOUS_CODING	LOW	None	0.62600	0.62600	0.33592				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1189466 dbSNP Clinvar	95726541	19498.3	A	G	.	1/1	113	SYNONYMOUS_CODING	LOW	None	0.90355	0.90360	0.05467				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1678339 dbSNP Clinvar	95727780	22114.3	T	C	.	1/1	103	SYNONYMOUS_CODING	LOW	None	0.88778	0.88780	0.07420				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2274407 dbSNP Clinvar	95859035	2551.9	C	A	.	0/1	96	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.15056	0.15060	0.10457	0.00	0.20	2.71	None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1751034 dbSNP Clinvar	95714976	20463.3	C	T	.	1/1	109	SYNONYMOUS_CODING	LOW	None	0.79433	0.79430	0.20345				None None	None None None None	ABCC4\|0.142494523\|44.07%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs899494 dbSNP Clinvar	95861804	10932.9	A	G	.	0/1	111	SYNONYMOUS_CODING	LOW	None	0.80751	0.80750	0.16977				None None	None None None None	ABCC4\|0.142494523\|44.07%
ANKRD10
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs34628205 dbSNP Clinvar	111563052	6857.9	C	T	.	0/1	118	SYNONYMOUS_CODING	LOW	None	0.00040	0.00040	0.06635				None None	None None None None	ANKRD10\|0.068914664\|57.75%
ATP11A
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1320525 dbSNP Clinvar	113527967	10485.3	G	A	.	1/1	81	SYNONYMOUS_CODING	LOW	None	0.37480	0.37480	0.36322				None None	None None None None	ATP11A\|0.13314168\|45.42%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9549573 dbSNP Clinvar	113508839	27412.3	G	C	.	1/1	120	SYNONYMOUS_CODING	LOW	None	0.69629	0.69630	0.28261			-0.07	None None	None None None None	ATP11A\|0.13314168\|45.42%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs368865 dbSNP Clinvar	113479820	26448.3	A	G	.	1/1	149	NON_SYNONYMOUS_CODING	MODERATE	None	0.84225	0.84230	0.20145	1.00	0.00	0.16	None None	None None None None	ATP11A\|0.13314168\|45.42%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1290177 dbSNP Clinvar	113536132	33257.3	T	C	.	1/1	195	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.56490	0.56490	0.46179				None None	None None None None	ATP11A\|0.13314168\|45.42%
ATP12A
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs12872010 dbSNP Clinvar	25265271	8855.9	C	T	.	0/1	139	SYNONYMOUS_CODING	LOW	None	0.05950	0.05950	0.04513				None None	None None None None	ATP12A\|0.195110246\|37.26%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2289901 dbSNP Clinvar	25272870	4706.9	C	T	.	0/1	134	SYNONYMOUS_CODING	LOW	None	0.24780	0.24780	0.24143				None None	None None None None	ATP12A\|0.195110246\|37.26%
ATP4B
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs747568795 dbSNP Clinvar	114303732	6665.9	G	A	.	0/1	144	NON_SYNONYMOUS_CODING	MODERATE	None				0.11	1.00	5.34	0.03 0.52584 D	None None None None	ATP4B\|0.020415795\|73.96%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs75187049 dbSNP Clinvar	114303822	5988.9	G	A	.	0/1	108	NON_SYNONYMOUS_CODING	MODERATE	None	0.06709	0.06709	0.07552	1.00	0.03	-0.72	None None	None None None None	ATP4B\|0.020415795\|73.96%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9285616 dbSNP Clinvar	114312354	15166.3	T	G	.	1/1	77	SYNONYMOUS_CODING	LOW	None	1.00000	1.00000	0.00008				None None	None None None None	ATP4B\|0.020415795\|73.96%
ATP7B
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1801243 dbSNP Clinvar	52548140	8727.9	A	C	.	0/1	131	NON_SYNONYMOUS_CODING	MODERATE	None	0.37620	0.37620	0.40122	0.79	0.00	-0.55	None None	rs1801243 2_2 Wilson's_disease_not_specified None	ATP7B\|0.044059753\|64.5%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs732774 dbSNP Clinvar	52523808	5999.9	C	T	.	0/1	143	NON_SYNONYMOUS_CODING	MODERATE	None	0.53095	0.53100	0.42835	1.00	0.00	2.12	None None	rs732774 2_2 Wilson's_disease_not_specified None	ATP7B\|0.044059753\|64.5%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1061472 dbSNP Clinvar	52524488	8592.9	T	C	.	0/1	150	NON_SYNONYMOUS_CODING	MODERATE	None	0.50240	0.50240	0.44783	0.07	0.08	2.98	None None	rs1061472 2_2 Wilson's_disease_not_specified None	ATP7B\|0.044059753\|64.5%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs60986317 dbSNP Clinvar	52508989	9966.9	G	A	.	0/1	132	NON_SYNONYMOUS_CODING	MODERATE	None	0.00240	0.00240	0.00248	0.10	0.45	4.38	0.06 0.69161 D	rs60986317 4 Wilson's_disease None	ATP7B\|0.044059753\|64.5%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1801249 dbSNP Clinvar	52515354	5564.9	A	G	.	0/1	119	NON_SYNONYMOUS_CODING	MODERATE	None	0.54054	0.54050	0.42244	1.00	0.00	-0.77	None None	rs1801249 3_2 Wilson's_disease_not_specified None	ATP7B\|0.044059753\|64.5%
ATP8A2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs6491088 dbSNP Clinvar	26273385	17496.3	G	C	.	1/1	105	SYNONYMOUS_CODING	LOW	None	0.98742	0.98740	0.01018				None None	None None None None	ATP8A2\|0.338221309\|24.95%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs6491066 dbSNP Clinvar	26148966	7243.33	C	T	.	1/1	38	SYNONYMOUS_CODING	LOW	None	0.53634	0.53630	0.29168				None None	None None None None	ATP8A2\|0.338221309\|24.95%
B3GALTL
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs4943266 dbSNP Clinvar	31821992	6370.35	T	C	.	1/1	36	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.97544	0.97540	0.03601				None None	None None None None	B3GALTL\|0.110722838\|49.06%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1041073 dbSNP Clinvar	31891746	7429.94	G	A	.	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None	0.66673	0.66670	0.34461	0.03	0.47	3.05	None None	rs1041073 2 not_specified None	B3GALTL\|0.110722838\|49.06%
BIVM
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs34730033 dbSNP Clinvar	103483991	14692.9	T	C	.	1/1	139	SYNONYMOUS_CODING	LOW	None	0.02516	0.02516	0.02061				None None	None None None None	BIVM\|0.214940645\|35%,BIVM-ERCC5\|0.069043086\|57.72%
BORA
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs10648315,rs370727431 dbSNP Clinvar	73317740	5817.86	G	GGTGA	.	1/1	52	None	None	None	0.13578	0.13580	0.11026				None None	None None None None	BORA\|0.244606958\|32.05%
BRCA2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs144848 dbSNP Clinvar	32906729	24479.3	A	C	.	1/1	136	NON_SYNONYMOUS_CODING	MODERATE	None	0.24940	0.24940	0.23321	0.06	0.86	-1.13	None None	rs144848 2_2 not_provided_Neoplastic_Syndromes\x2c_Hereditary None	BRCA2\|0.561492787\|13.3%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs206076 dbSNP Clinvar	32915005	22827.3	G	C,T	.	1/2	124	SYNONYMOUS_CODING	LOW	None	0.00040	0.97360	0.02453				None None	None None None None	BRCA2\|0.561492787\|13.3%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs206075 dbSNP Clinvar	32913055	31107.3	A	G	.	1/1	169	SYNONYMOUS_CODING	LOW	None	0.97404	0.97400	0.02423				None None	None None None None	BRCA2\|0.561492787\|13.3%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs169547 dbSNP Clinvar	32929387	19900.3	T	C	.	1/1	112	NON_SYNONYMOUS_CODING	MODERATE	None	0.97584	0.97580	0.02230	1.00	0.00	-0.41	None None	None None None None	BRCA2\|0.561492787\|13.3%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs41293473 dbSNP Clinvar	32906626	7129.94	C	T	.	0/1	106	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	BRCA2\|0.561492787\|13.3%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs41293485 dbSNP Clinvar	32912361	1819.33	G	A	.	0/1	121	NON_SYNONYMOUS_CODING	MODERATE	None	0.00339	0.00340	0.00304	0.20	0.02	0.34	None None	rs41293485 2_2 not_provided_Neoplastic_Syndromes\x2c_Hereditary None	BRCA2\|0.561492787\|13.3%
C13orf45
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9600567 dbSNP Clinvar	76445316	8899.9	C	T	.	1/1	81	SYNONYMOUS_CODING	LOW	None	0.47085	0.47080					None None	None None None None	LMO7DN\|0.000900221\|96.02%
C1QTNF9
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2862239 dbSNP Clinvar	24895684	44794.3	A	G	.	1/1	252	SYNONYMOUS_CODING	LOW	None	0.89577	0.89580	0.12392			1.56	None None	None None None None	C1QTNF9\|0.007159011\|83.32%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3751354 dbSNP Clinvar	24895240	2308.99	G	A	.	1/1	50	SYNONYMOUS_CODING	LOW	None	0.43331	0.43330					None None	None None None None	C1QTNF9\|0.007159011\|83.32%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3751355 dbSNP Clinvar	24895393	3512.9	A	G	.	1/1	65	SYNONYMOUS_CODING	LOW	None							None None	None None None None	C1QTNF9\|0.007159011\|83.32%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3751357 dbSNP Clinvar	24895559	17991.9	A	G	.	1/1	202	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00	-1.85	None None	None None None None	C1QTNF9\|0.007159011\|83.32%
C1QTNF9B
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3864971 dbSNP Clinvar	24465743	73923.4	A	G	.	1/1	447	SYNONYMOUS_CODING	LOW	None	0.98383	0.98380	0.01517				None None	None None None None	C1QTNF9B\|0.013563559\|78.16%
CAB39L
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs8002858 dbSNP Clinvar	49951193	15515.3	T	C	.	1/1	92	SYNONYMOUS_CODING	LOW	None	0.49581	0.49580	0.41865				None None	None None None None	CAB39L\|0.342406603\|24.66%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs8002829 dbSNP Clinvar	49951142	18469.3	T	C	.	1/1	110	SYNONYMOUS_CODING	LOW	None	0.49581	0.49580	0.41858				None None	None None None None	CAB39L\|0.342406603\|24.66%
CARS2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs4628819 dbSNP Clinvar	111319754	16761.9	T	C	.	0/1	131	SYNONYMOUS_CODING	LOW	None	0.76238	0.76240	0.22520			-0.80	None None	None None None None	CARS2\|0.018441874\|74.99%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs436462 dbSNP Clinvar	111298392	12457.9	A	G	.	0/1	111	SYNONYMOUS_CODING	LOW	None	0.47424	0.47420	0.41281				None None	None None None None	CARS2\|0.018441874\|74.99%
CCDC168
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	.	103386787	6186.9	T	C	.	0/1	240	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7982670 dbSNP Clinvar	103386283	37915.4	A	G	.	1/1	177	SYNONYMOUS_CODING	LOW	None	0.97145	0.97140	0.02584				None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs6491707 dbSNP Clinvar	103385015	37340.4	A	G	.	1/1	193	NON_SYNONYMOUS_CODING	MODERATE	None	0.99581	0.99580	0.00285	0.64	0.00	0.02	None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7335290 dbSNP Clinvar	103385299	47576.4	A	C	.	1/1	228	NON_SYNONYMOUS_CODING	MODERATE	None	0.97284	0.97280	0.02584	0.99	0.00	-2.07	None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs188083178 dbSNP Clinvar	103383490	10047.9	T	C	.	0/1	179	SYNONYMOUS_CODING	LOW	None	0.00300	0.00300	0.00153				None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9300756 dbSNP Clinvar	103384824	33118.4	G	A	.	1/1	171	NON_SYNONYMOUS_CODING	MODERATE	None	0.58666	0.58670	0.45881	0.17	0.00	0.89	None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs187912807 dbSNP Clinvar	103386022	12640.9	C	T	.	0/1	202	SYNONYMOUS_CODING	LOW	None	0.00240	0.00240					None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9300758 dbSNP Clinvar	103388220	35759.4	A	G	.	1/1	185	NON_SYNONYMOUS_CODING	MODERATE	None	0.99101	0.99100	0.00854	0.09	0.00	-0.50	None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7982465 dbSNP Clinvar	103386116	38154.4	C	G	.	1/1	218	NON_SYNONYMOUS_CODING	MODERATE	None	0.97125	0.97120	0.02650	0.11	0.03	-0.07	None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9585983 dbSNP Clinvar	103387546	7464.9	C	T	.	0/1	229	SYNONYMOUS_CODING	LOW	None	0.02716	0.02716	0.02037				None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs188989053 dbSNP Clinvar	103387225	11935.9	G	A	.	0/1	180	SYNONYMOUS_CODING	LOW	None	0.00300	0.00300	0.00175				None None	None None None None	CCDC168\|0.000980876\|95.56%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7983175 dbSNP Clinvar	103385798	33610.4	T	C	.	1/1	179	NON_SYNONYMOUS_CODING	MODERATE	None	0.97284	0.97280	0.02562	1.00	0.00	-1.79	None None	None None None None	CCDC168\|0.000980876\|95.56%
CCDC169
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9546785 dbSNP Clinvar	36801415	10491.9	C	T	.	0/1	165	NON_SYNONYMOUS_CODING	MODERATE	None	0.37760	0.37760	0.41196	0.01	0.98	1.05	None None	None None None None	SOHLH2\|0.025487064\|71.56%,CCDC169-SOHLH2\|0.024786398\|71.88%,CCDC169\|0.01125788\|79.84%
CCDC169-SOHLH2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2296967 dbSNP Clinvar	36744800	24664.9	G	A	.	0/1	245	SYNONYMOUS_CODING	LOW	None	0.07468	0.07468	0.08781				None None	None None None None	SOHLH2\|0.025487064\|71.56%,CCDC169-SOHLH2\|0.024786398\|71.88%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9546897 dbSNP Clinvar	36828237	7721.9	T	C	.	0/1	120	NON_SYNONYMOUS_CODING	MODERATE	None	0.37580	0.37580		1.00	0.00	0.78	None None	None None None None	SOHLH2\|0.025487064\|71.56%,CCDC169-SOHLH2\|0.024786398\|71.88%,CCDC169\|0.01125788\|79.84%
CCDC70
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1054515 dbSNP Clinvar	52440130	9547.9	A	G	.	0/1	165	NON_SYNONYMOUS_CODING	MODERATE	None	0.35583	0.35580	0.32324	0.51	0.00	-3.29	None None	None None None None	CCDC70\|0.003653963\|87.51%
CDC16
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2296970 dbSNP Clinvar	115004935	27191.9	T	C	.	0/1	214	SYNONYMOUS_CODING	LOW	None	0.44169	0.44170	0.43934				None None	None None None None	CDC16\|0.574269029\|12.84%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs17291320 dbSNP Clinvar	115016036	9129.9	A	G	.	0/1	108	SYNONYMOUS_CODING	LOW	None	0.00639	0.00639	0.00377				None None	None None None None	CDC16\|0.574269029\|12.84%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2296971 dbSNP Clinvar	115004914	33619.4	C	T	.	1/1	184	SYNONYMOUS_CODING	LOW	None	0.44429	0.44430	0.44210				None None	None None None None	CDC16\|0.574269029\|12.84%
CDX2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1805107 dbSNP Clinvar	28537317	23021.3	G	A	.	1/1	114	NON_SYNONYMOUS_CODING	MODERATE	None	0.72564	0.72560	0.29187	0.08	0.08	2.00	None None	None None None None	CDX2\|0.819268423\|5.35%
CENPJ
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3742165 dbSNP Clinvar	25466955	12982.9	T	C	.	0/1	116	SYNONYMOUS_CODING	LOW	None	0.48403	0.48400	0.45187			-0.12	None None	None None None None	CENPJ\|0.084211858\|54.37%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs17081389 dbSNP Clinvar	25487001	7589.9	G	C	.	0/1	156	NON_SYNONYMOUS_CODING	MODERATE	None	0.02816	0.02815	0.03068	0.06	0.02	-0.13	None None	rs17081389 2_2 Primary_autosomal_recessive_microcephaly_6_not_provided None	CENPJ\|0.084211858\|54.37%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs17081368 dbSNP Clinvar	25480616	11002.9	T	A	.	0/1	220	SYNONYMOUS_CODING	LOW	None	0.04952	0.04952	0.05137				None None	None None None None	CENPJ\|0.084211858\|54.37%
CHAMP1
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3813131 dbSNP Clinvar	115090019	34871.3	G	A	.	1/1	198	SYNONYMOUS_CODING	LOW	None	0.19649	0.19650	0.14317				None None	None None None None	CHAMP1\|0.091768231\|52.86%
CKAP2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7335867 dbSNP Clinvar	53035925	31135.3	A	G	.	1/1	152	NON_SYNONYMOUS_CODING	MODERATE	None	0.99960	0.99960	0.00031	1.00	0.00	-2.68	None None	None None None None	CKAP2\|0.618697736\|11.13%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7337054 dbSNP Clinvar	53035783	21236.9	T	C	.	1/1	162	SYNONYMOUS_CODING	LOW	None	0.99740	0.99740	0.00292				None None	None None None None	CKAP2\|0.618697736\|11.13%
CLN5
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs77416795 dbSNP Clinvar	77566090	8608.9	C	T	.	0/1	154	NON_SYNONYMOUS_CODING	MODERATE	None	0.13938	0.13940	0.10482		0.00	3.55	None None	rs77416795 3 not_specified None	CLN5\|0.079356583\|55.32%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1800209 dbSNP Clinvar	77574983	3230.05	A	G	.	0/1	122	NON_SYNONYMOUS_CODING	MODERATE	None	0.24461	0.24460	0.18826	1.00	0.00	0.22	None None	rs1800209 3 not_specified None	CLN5\|0.079356583\|55.32%,FBXL3\|0.526378926\|14.71%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7987664 dbSNP Clinvar	77566158	4849.9	A	G	.	0/1	145	SYNONYMOUS_CODING	LOW	None	0.11202	0.11200	0.06638				None None	None None None None	CLN5\|0.079356583\|55.32%
CLYBL
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3831038,rs57126726,rs796986882 dbSNP Clinvar	100517195	852.86	CTG	C	.	0/1	29	None	None	None			0.24677				None None	None None None None	CLYBL\|0.43420364\|18.99%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3783185 dbSNP Clinvar	100518580	10436.9	A	G	.	0/1	98	NON_SYNONYMOUS_CODING	MODERATE	None	0.82508	0.82510	0.23697	0.06	0.23	2.71	None None	None None None None	CLYBL\|0.43420364\|18.99%
COG3
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs74854040 dbSNP Clinvar	46108856	4290.9	T	C	.	0/1	126	NON_SYNONYMOUS_CODING	MODERATE	None	0.02636	0.02636	0.02279	0.11	0.03	2.48	None None	None None None None	COG3\|0.283875936\|28.81%,ERICH6B\|0.000395053\|98.98%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs2274285 dbSNP Clinvar	46103935	10068.9	A	G	.	0/1	103	NON_SYNONYMOUS_CODING	MODERATE	None	0.68191	0.68190	0.33208	1.00	0.00	-1.56	None None	None None None None	COG3\|0.283875936\|28.81%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3014960 dbSNP Clinvar	46077381	7381.35	G	A	.	1/1	40	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.90336	0.90340	0.09573				None None	None None None None	COG3\|0.283875936\|28.81%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3014902 dbSNP Clinvar	46108853	28580.3	T	C	.	1/1	123	NON_SYNONYMOUS_CODING	MODERATE	None	0.99820	0.99820	0.00200	1.00	0.00	0.23	None None	None None None None	COG3\|0.283875936\|28.81%,ERICH6B\|0.000395053\|98.98%
COG6
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3812882 dbSNP Clinvar	40229891	14741.9	G	A	.	1/1	119	NON_SYNONYMOUS_CODING	MODERATE	None	0.48443	0.48440	0.43809	0.09	0.00	3.32	None None	None None None None	COG6\|0.303873453\|27.36%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3812883 dbSNP Clinvar	40229957	16568.9	T	A	.	1/1	131	NON_SYNONYMOUS_CODING	MODERATE	None	0.48423	0.48420	0.41606	0.80	0.00	-0.70	None None	None None None None	COG6\|0.303873453\|27.36%
COL4A1
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs536174 dbSNP Clinvar	110839550	36348.4	T	G	.	1/1	160	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000			0.00	1.09	None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs532625 dbSNP Clinvar	110864225	13520.9	A	T	.	0/1	127	SYNONYMOUS_CODING	LOW	None	0.47284	0.47280	0.43957				None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs576690537 dbSNP Clinvar	110839557	5542.9	G	A	.	0/1	153	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9515185 dbSNP Clinvar	110959356	5244.9	C	G	.	0/1	84	NON_SYNONYMOUS_CODING	MODERATE	None	0.42412	0.42410			0.00	0.37	None None	None None None None	COL4A1\|0.224151486\|33.94%,COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs144773264 dbSNP Clinvar	110861757	2590.9	G	A	.	0/1	51	SYNONYMOUS_CODING	LOW	None	0.00140	0.00140	0.00046				None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs3742207 dbSNP Clinvar	110818598	1974.9	T	G	.	0/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.28834	0.28830	0.32124		0.25	0.68	None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1133219 dbSNP Clinvar	110813709	8479.9	G	A	.	0/1	172	SYNONYMOUS_CODING	LOW	None	0.30791	0.30790	0.35676				None None	None None None None	COL4A1\|0.224151486\|33.94%
COL4A2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs74124319 dbSNP Clinvar	111082900	9320.9	C	T	.	0/1	176	SYNONYMOUS_CODING	LOW	None	0.02776	0.02776	0.02971				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs4238272 dbSNP Clinvar	111077197	16180.9	G	A	.	0/1	127	SYNONYMOUS_CODING	LOW	None	0.94269	0.94270	0.06729				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs445348 dbSNP Clinvar	111158874	27384.3	A	G	.	1/1	131	SYNONYMOUS_CODING	LOW	None	0.75200	0.75200	0.12908				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs4771683 dbSNP Clinvar	111156499	18227.3	C	T	.	1/1	85	SYNONYMOUS_CODING	LOW	None	0.93590	0.93590	0.05438				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs438758 dbSNP Clinvar	111155773	18318.3	T	C	.	1/1	93	SYNONYMOUS_CODING	LOW	None	0.98023	0.98020	0.01286				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs409858 dbSNP Clinvar	111154061	35224.4	T	C	.	1/1	139	SYNONYMOUS_CODING	LOW	None	0.93950	0.93950	0.05167				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs439831 dbSNP Clinvar	111154058	35233.4	T	A	.	1/1	137	SYNONYMOUS_CODING	LOW	None	0.93950	0.93950	0.05156				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs9583500 dbSNP Clinvar	111121620	29243.9	C	T	.	0/1	243	NON_SYNONYMOUS_CODING	MODERATE	None	0.19090	0.19090	0.23106	0.70	0.10	0.70	None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7990383 dbSNP Clinvar	111111235	21143.9	G	A	.	0/1	165	NON_SYNONYMOUS_CODING	MODERATE	None	0.50919	0.50920	0.36542	0.99	0.00	-2.14	None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs7990214 dbSNP Clinvar	111111173	21797.9	G	A	.	0/1	175	SYNONYMOUS_CODING	LOW	None	0.49141	0.49140	0.37904				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs4103 dbSNP Clinvar	111098226	10630.9	C	T	.	1/1	94	SYNONYMOUS_CODING	LOW	None	0.48283	0.48280	0.48987				None None	None None None None	COL4A2\|0.044971251\|64.22%
CPB2
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	17-11096s1 germline-multisample gatk annotated 17-11097s2	13	rs1926447 dbSNP Clinvar	46629944	8471.35	A	G	.	1/1	57	NON_SYNONYMOUS_CODING	MODERATE	None	0.78315	0.78310	0.24293	0.76	0.00	-1.55	None None	None None None None	CPB2\|0.106282021\|49.92%