chromosome	start_position	ID	REF	ALT	QUAL	SVTYPE	GT	end_position	gene_name	in_exon	Entry	Status	Protein.names	Gene.names	Annotation	Tissue.specificity	Gene.ontology..biological.process.	Involvement.in.disease	Cross.reference..Orphanet.	PubMed.ID
1	16376518	25	N	<DEL>	71.46	DEL	0/1	16386257	CLCNKB	TRUE	P51801	reviewed	Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)	CLCNKB	5 out of 5	TISSUE SPECIFICITY: Expressed predominantly in the kidney. {ECO:0000269|PubMed:11734858}.	chloride transmembrane transport [GO:1902476]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]; transport [GO:0006810]	DISEASE: Bartter syndrome 3 (BS3) [MIM:607364]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. {ECO:0000269|PubMed:9326936}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Bartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). {ECO:0000269|PubMed:18310267}.	93605;358;89938;	8041726; 8544406; 14702039; 16710414; 11734858; 15044642; 18310267; 9326936
1	16376518	25	N	<DEL>	71.46	DEL	0/1	16386257	CLCNKB	TRUE	P51801	reviewed	Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)	CLCNKB	5 out of 5	TISSUE SPECIFICITY: Expressed predominantly in the kidney. {ECO:0000269|PubMed:11734858}.	chloride transmembrane transport [GO:1902476]; excretion [GO:0007588]; ion transmembrane transport [GO:0034220]; transport [GO:0006810]	DISEASE: Bartter syndrome 3 (BS3) [MIM:607364]: An autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. {ECO:0000269|PubMed:9326936}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Bartter syndrome 4B (BS4B) [MIM:613090]: A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness. {ECO:0000269|PubMed:15044642, ECO:0000269|PubMed:18310267}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Loss-of-function of both CLCNKA and CLCNKB results in the disease phenotype (PubMed:18310267). {ECO:0000269|PubMed:18310267}.	93605;358;89938;	8041726; 8544406; 14702039; 16710414; 11734858; 15044642; 18310267; 9326936
1	25613678	42	N	<DUP>	121.97	DUP	0/1	25732108	RHD	TRUE	Q02161	reviewed	Blood group Rh(D) polypeptide (RHXIII) (Rh polypeptide 2) (RhPII) (Rhesus D antigen) (CD antigen CD240D)	RHD	5 out of 5	TISSUE SPECIFICITY: Restricted to tissues or cell lines expressing erythroid characters.	ammonium transmembrane transport [GO:0072488]; nitrogen utilization [GO:0019740]; organic cation transport [GO:0015695]	NA	71275;	1438298; 1379850; 8329718; 7916743; 8180407; 7606008; 8080999; 16510313; 16710414; 3146980; 3131772; 3135863; 1898705; 7741145; 16959974
1	43008213	61	N	<DEL>	160.19	DEL	0/1	43008523	CCDC30	FALSE	Q5VVM6	reviewed	Coiled-coil domain-containing protein 30 (Prefoldin subunit 6-like protein)	CCDC30 PFDN6L	2 out of 5	TISSUE SPECIFICITY: Expressed in brain, kidney, pancreas, placenta, liver, thymus and prostate. {ECO:0000269|PubMed:16710767}.	NA	NA	NA	16710767; 16710414
1	109650635	4086_1	N	[22:30163373[N	91.95	BND	0/1	NA	C1orf194	TRUE	Q5T5A4	reviewed	Uncharacterized protein C1orf194	C1orf194	1 out of 5	NA	NA	NA	NA	8889548; 16710414
1	144896296	163	N	<DEL>	358.67	DEL	0/1	144906809	PDE4DIP	TRUE	Q5VU43	reviewed	Myomegalin (Cardiomyopathy-associated protein 2) (Phosphodiesterase 4D-interacting protein)	PDE4DIP CMYA2 KIAA0454 KIAA0477 MMGL	5 out of 5	TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle and to a lower extent in brain and placenta. {ECO:0000269|PubMed:11374908}.	cellular protein complex assembly [GO:0043623]	DISEASE: Note=A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein. {ECO:0000269|PubMed:12907457}.	NA	11374908; 9455484; 12168954; 17974005; 16710414; 15489334; 14702039; 12907457; 21269460; 23186163; 24275569; 18669648
1	144901180	164	N	<DEL>	320.91	DEL	0/1	144906809	PDE4DIP	TRUE	Q5VU43	reviewed	Myomegalin (Cardiomyopathy-associated protein 2) (Phosphodiesterase 4D-interacting protein)	PDE4DIP CMYA2 KIAA0454 KIAA0477 MMGL	5 out of 5	TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle and to a lower extent in brain and placenta. {ECO:0000269|PubMed:11374908}.	cellular protein complex assembly [GO:0043623]	DISEASE: Note=A chromosomal aberration involving PDE4DIP may be the cause of a myeloproliferative disorder (MBD) associated with eosinophilia. Translocation t(1;5)(q23;q33) that forms a PDE4DIP-PDGFRB fusion protein. {ECO:0000269|PubMed:12907457}.	NA	11374908; 9455484; 12168954; 17974005; 16710414; 15489334; 14702039; 12907457; 21269460; 23186163; 24275569; 18669648
1	152555541	170	N	<DEL>	117.38	DEL	1/1	152587740	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	182025908	196	N	<DEL>	19.73	DEL	0/1	182026226	ZNF648	TRUE	Q5T619	reviewed	Zinc finger protein 648	ZNF648	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	16710414; 15489334
2	6925182	483	N	<DEL>	0.01	DEL	0/0	135350439	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	89160770	415_1	N	N]2:89185668]	198.48	BND	0/1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	89161436	416_1	N	[2:89197303[N	282.62	BND	0/1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	89185668	415_2	N	N]2:89160770]	198.48	BND	0/1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	90449067	418	N	<DUP>	0.28	DUP	0/0	91671044	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	97854330	424	N	<DEL>	0.14	DEL	0/0	97856115	ANKRD36	TRUE	A6QL64	reviewed	Ankyrin repeat domain-containing protein 36A	ANKRD36 ANKRD36A KIAA1641 UNQ2430/PRO499	3 out of 5	NA	NA	NA	NA	10997877; 12975309; 14702039; 15815621; 15489334; 
2	102967162	431	N	<DEL>	77.39	DEL	0/1	102969267	IL1RL1	TRUE	Q01638	reviewed	Interleukin-1 receptor-like 1 (Protein ST2)	IL1RL1 DER4 ST2 T1	5 out of 5	TISSUE SPECIFICITY: Highly expressed in kidney, lung, placenta, stomach, skeletal muscle, colon and small intestine. Isoform A is prevalently expressed in the lung, testis, placenta, stomach and colon. Isoform B is more abundant in the brain, kidney and the liver. Isoform C is not detected in brain, heart, liver, kidney and skeletal muscle. Expressed on T-cells in fibrotic liver; at protein level. Overexpressed in fibrotic and cirrhotic liver. {ECO:0000269|PubMed:11478810, ECO:0000269|PubMed:19508382}.	cellular response to peptide [GO:1901653]; immune response [GO:0006955]; negative regulation of cell proliferation [GO:0008285]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of T-helper 1 type immune response [GO:0002826]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of inflammatory response [GO:0050729]; positive regulation of interleukin-5 production [GO:0032754]; positive regulation of macrophage activation [GO:0043032]; signal transduction [GO:0007165]	NA	NA	1482686; 10527832; 10936050; 14702039; 15815621; 15489334; 15340161; 11478810; 16286016; 14759258; 19836339; 19508382; 23980170
2	130954938	458	N	<DEL>	124.59	DEL	0/1	130957387	TUBA3E	TRUE	Q6PEY2	reviewed	Tubulin alpha-3E chain (Alpha-tubulin 3E)	TUBA3E	5 out of 5	NA	microtubule-based process [GO:0007017]	NA	NA	15815621; 15489334; 19524510; 26875866
3	129763381	748	N	<DEL>	12.39	DEL	0/1	129806745	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
3	130132025	749	N	<DEL>	297.45	DEL	0/1	130132898	COL6A5	TRUE	A8TX70	reviewed	Collagen alpha-5(VI) chain (Collagen alpha-1(XXIX) chain) (von Willebrand factor A domain-containing protein 4)	COL6A5 COL29A1 VWA4	5 out of 5	TISSUE SPECIFICITY: Expressed in skin, followed by lung, small intestine, colon and testis. In skin, it is expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in the most differentiated upper spinous and granular layers (at protein level). {ECO:0000269|PubMed:17850181}.	cell adhesion [GO:0007155]; collagen catabolic process [GO:0030574]	DISEASE: Note=Patients affected by atopic dermatitis display an abnormal distribution of COL29A1 mRNA and protein in skin suggesting that COL29A1 may be involved in the pathogenesis of the disease.	NA	17850181; 18276594; 16641997; 14702039
4	91035002	1027	N	<DUP>	40.77	DUP	0/1	121960323	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
4	144756655	1048	N	<DUP>	87.46	DUP	0/1	144877588	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
5	59171010	1334	N	<DUP>	151.74	DUP	0/1	162156249	PDE4D	TRUE	Q08499	reviewed	cAMP-specific 3',5'-cyclic phosphodiesterase 4D (EC 3.1.4.53) (DPDE3) (PDE43)	PDE4D DPDE3	5 out of 5	TISSUE SPECIFICITY: Expressed in colonic epithelial cells (at protein level). Widespread; most abundant in skeletal muscle. Isoform 6 is detected in brain. Isoform 8 is detected in brain, placenta, lung and kidney. Isoform 7 is detected in heart and skeletal muscle. {ECO:0000269|PubMed:12834813, ECO:0000269|PubMed:17244609}.	adrenergic receptor signaling pathway [GO:0071875]; adrenergic receptor signaling pathway involved in positive regulation of heart rate [GO:0086024]; aging [GO:0007568]; cAMP catabolic process [GO:0006198]; cAMP-mediated signaling [GO:0019933]; cellular response to cAMP [GO:0071320]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to lipopolysaccharide [GO:0071222]; establishment of endothelial barrier [GO:0061028]; multicellular organism growth [GO:0035264]; negative regulation of heart contraction [GO:0045822]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of relaxation of cardiac muscle [GO:1901898]; neutrophil chemotaxis [GO:0030593]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of interleukin-5 production [GO:0032754]; regulation of cAMP metabolic process [GO:0030814]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of heart rate [GO:0002027]; regulation of receptor activity [GO:0010469]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; smooth muscle contraction [GO:0006939]; T cell receptor signaling pathway [GO:0050852]	DISEASE: Note=Genetic variations in PDE4D might be associated with susceptibility to stroke. PubMed:17006457 states that association with stroke has to be considered with caution. {ECO:0000269|PubMed:17006457}.; DISEASE: Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]: A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. {ECO:0000269|PubMed:22464250, ECO:0000269|PubMed:22464252, ECO:0000269|PubMed:23033274, ECO:0000269|PubMed:23043190}. Note=The disease is caused by mutations affecting the gene represented in this entry.	950;280651;	8413254; 8797812; 8125310; 9371713; 10913353; 12834813; 14517540; 15489334; 12193273; 14500724; 15131123; 17081983; 17006457; 17244609; 18088087; 18669648; 20196770; 20068231; 21406692; 23186163; 12387865; 14609333; 12842049; 14668322; 15003452; 15260978; 15576036; 15685167; 16539372; 17727341; 17900862; 17582435; 22464250; 22464252; 23043190; 23033274
5	75610991	1234	N	<DUP>	146.59	DUP	0/1	75647021	SV2C	TRUE	Q496J9	reviewed	Synaptic vesicle glycoprotein 2C	SV2C KIAA1054	4 out of 5	NA	neurotransmitter transport [GO:0006836]	NA	NA	15489334; 10470851
5	78109799	1238	N	<DEL>	257.54	DEL	0/1	78111870	ARSB	FALSE	P15848	reviewed	Arylsulfatase B (ASB) (EC 3.1.6.12) (N-acetylgalactosamine-4-sulfatase) (G4S)	ARSB	5 out of 5	NA	autophagy [GO:0006914]; central nervous system development [GO:0007417]; chondroitin sulfate catabolic process [GO:0030207]; colon epithelial cell migration [GO:0061580]; glycosphingolipid metabolic process [GO:0006687]; lysosomal transport [GO:0007041]; lysosome organization [GO:0007040]; positive regulation of neuron projection development [GO:0010976]; post-translational protein modification [GO:0043687]; regulation of epithelial cell migration [GO:0010632]; response to estrogen [GO:0043627]; response to methylmercury [GO:0051597]; response to nutrient [GO:0007584]; response to pH [GO:0009268]	DISEASE: Mucopolysaccharidosis 6 (MPS6) [MIM:253200]: An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed. {ECO:0000269|PubMed:10036316, ECO:0000269|PubMed:10738004, ECO:0000269|PubMed:11802522, ECO:0000269|PubMed:14974081, ECO:0000269|PubMed:1550123, ECO:0000269|PubMed:1718978, ECO:0000269|PubMed:8116615, ECO:0000269|PubMed:8125475, ECO:0000269|PubMed:8541342, ECO:0000269|PubMed:8651289}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. {ECO:0000269|PubMed:15146462}. Note=The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.	276212;276223;	2303452; 1968043; 7687847; 14702039; 15372022; 15489334; 1930244; 1390929; 7628016; 15146462; 19306108; 19159218; 25944712; 9032078; 1718978; 1550123; 8116615; 8125475; 8541342; 8651289; 10206678; 9582121; 10036316; 10738004; 11802522; 14974081
5	115238690	1282	N	<DEL>	0.06	DEL	0/0	115249056	AP3S1	FALSE	Q92572	reviewed	AP-3 complex subunit sigma-1 (AP-3 complex subunit sigma-3A) (Adaptor-related protein complex 3 subunit sigma-1) (Clathrin-associated/assembly/adaptor protein, small 3) (Sigma-3A-adaptin) (Sigma3A-adaptin) (Sigma-adaptin 3a)	AP3S1 CLAPS3	5 out of 5	TISSUE SPECIFICITY: Present in all adult tissues examined. {ECO:0000269|PubMed:8697810, ECO:0000269|PubMed:9118953, ECO:0000269|PubMed:9151686}.	anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; insulin receptor signaling pathway [GO:0008286]; intracellular protein transport [GO:0006886]	NA	NA	8697810; 9151686; 9118953; 15489334; 21269460; 23186163
6	32481578	1424	N	<DEL>	0.29	DEL	0/0	32543651	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
6	32620142	1435	N	<DUP>	0.03	DUP	0/0	32719330	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
6	32633351	1441	N	<DEL>	0.04	DEL	0/0	32730238	HLA-DQB1	TRUE	P01920	reviewed	HLA class II histocompatibility antigen, DQ beta 1 chain (MHC class II antigen DQB1)	HLA-DQB1 HLA-DQB	5 out of 5	NA	antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; immune response [GO:0006955]; immunoglobulin production involved in immunoglobulin mediated immune response [GO:0002381]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell costimulation [GO:0031295]; T cell receptor signaling pathway [GO:0050852]	NA	703;555;243377;930;802;83465;2073;	6415003; 6954511; 6316358; 6206493; 2998758; 2888727; 3036828; 3584986; 3259543; 2050393; 8988543; 9271631; 16140993; 14574404; 15489334; 2925231; 2494138; 2777341; 8929711; 11098940; 7928445; 6576979; 2212675; 3020127; 17868257; 2886427; 9174147; 11782280; 9458130; 17559588; 18331527; 18588576; 19254265; 19493242; 8896183; 8988541; 15361133; 15853909; 17212715; 17999653; 19392794; 10323344; 9802612; 8896171; 16441489; 1440562; 2308943; 2010218; 6952552; 18565458; 8598037; 11684289; 18046453; 17241953; 19092054; 19533806; 11376336; 14769912; 15020763; 17629515; 21269460
6	35754560	1451	N	<DUP>	199.14	DUP	0/1	35766788	CLPSL1	TRUE	A2RUU4	reviewed	Colipase-like protein 1	CLPSL1 C6orf127	3 out of 5	TISSUE SPECIFICITY: Exclusively expressed in epididymis, in the corpus region. {ECO:0000269|PubMed:18390568}.	digestion [GO:0007586]; lipid catabolic process [GO:0016042]	NA	NA	18390568; 14574404; 15489334
6	67315800	1613	N	<DUP>	44.98	DUP	0/1	167478534	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
6	72863851	1494	N	<DEL>	328.46	DEL	0/1	72873540	RIMS1	FALSE	Q86UR5	reviewed	Regulating synaptic membrane exocytosis protein 1 (Rab-3-interacting molecule 1) (RIM 1) (Rab-3-interacting protein 2)	RIMS1 KIAA0340 RAB3IP2 RIM1 Nbla00761	5 out of 5	TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003). {ECO:0000269|PubMed:23999003}.	calcium ion regulated exocytosis [GO:0017156]; glutamate secretion [GO:0014047]; intracellular protein transport [GO:0006886]; long-term synaptic potentiation [GO:0060291]; membrane fusion [GO:0061025]; neurotransmitter secretion [GO:0007269]; positive regulation of dendrite extension [GO:1903861]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of gene expression [GO:0010628]; positive regulation of inhibitory postsynaptic potential [GO:0097151]; protein complex assembly [GO:0006461]; regulated exocytosis [GO:0045055]; regulation of neurotransmitter secretion [GO:0046928]; response to stimulus [GO:0050896]; secretion [GO:0046903]; synaptic vesicle exocytosis [GO:0016079]; visual perception [GO:0007601]	DISEASE: Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269|PubMed:12659814}. Note=The disease may be caused by mutations affecting the gene represented in this entry.	1872;	12659814; 9205841; 14702039; 14574404; 15489334; 11438518; 18220336; 18669648; 23999003; 
6	136582615	1574	N	<DEL>	285.31	DEL	0/1	136589299	BCLAF1	TRUE	Q9NYF8	reviewed	Bcl-2-associated transcription factor 1 (Btf)	BCLAF1 BTF KIAA0164	5 out of 5	TISSUE SPECIFICITY: Ubiquitous.	apoptotic process [GO:0006915]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of response to DNA damage stimulus [GO:2001022]; regulation of DNA-templated transcription in response to stress [GO:0043620]; transcription, DNA-templated [GO:0006351]	NA	NA	10330179; 8724849; 14574404; 15489334; 15009215; 17081983; 17487921; 17924679; 18794151; 19367720; 18669648; 18318008; 19413330; 19690332; 19608861; 20068231; 21269460; 21406692; 24100041; 23186163; 24275569; 25218447; 25114211; 25772364; 25755297
7	65589705	1731	N	<DEL>	79.55	DEL	0/1	65591965	CRCP	FALSE	O75575	reviewed	DNA-directed RNA polymerase III subunit RPC9 (RNA polymerase III subunit C9) (Calcitonin gene-related peptide-receptor component protein) (CGRP-RCP) (CGRP-receptor component protein) (CGRPRCP) (HsC17)	CRCP	5 out of 5	TISSUE SPECIFICITY: Ubiquitous. Most prevalent in testis. {ECO:0000269|PubMed:10067875}.	defense response to virus [GO:0051607]; innate immune response [GO:0045087]; neuropeptide signaling pathway [GO:0007218]; positive regulation of type I interferon production [GO:0032481]; transcription from RNA polymerase III promoter [GO:0006383]; transcription initiation from RNA polymerase III promoter [GO:0006384]	NA	NA	10067875; 14702039; 16344560; 17974005; 12853948; 15489334; 12391170; 12482973
7	66193572	1748	N	<DUP>	128.35	DUP	0/1	73382119	RABGEF1	TRUE	Q9UJ41	reviewed	Rab5 GDP/GTP exchange factor (RAP1) (Rabaptin-5-associated exchange factor for Rab5) (Rabex-5)	RABGEF1 RABEX5	5 out of 5	NA	endocytosis [GO:0006897]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of Kit signaling pathway [GO:1900235]; negative regulation of leukocyte migration [GO:0002686]; negative regulation of mast cell degranulation [GO:0043305]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of Ras protein signal transduction [GO:0046580]; negative regulation of receptor-mediated endocytosis [GO:0048261]; protein targeting to membrane [GO:0006612]; regulation of Fc receptor mediated stimulatory signaling pathway [GO:0060368]	NA	NA	11098082; 14702039; 12853948; 15489334; 9323142; 11452015; 12505986; 18088087; 18691976; 18669648; 19690332; 19608861; 20068231; 23186163; 24275569; 15339665; 16499958; 17450153
7	72355089	1794	N	<DUP>	306.38	DUP	1/1	102009660	POM121	TRUE	Q96HA1	reviewed	Nuclear envelope pore membrane protein POM 121 (Nuclear envelope pore membrane protein POM 121A) (Nucleoporin Nup121) (Pore membrane protein of 121 kDa)	POM121 KIAA0618 NUP121 POM121A	5 out of 5	NA	gene silencing by RNA [GO:0031047]; intracellular transport of virus [GO:0075733]; mitotic nuclear envelope disassembly [GO:0007077]; mRNA export from nucleus [GO:0006406]; protein sumoylation [GO:0016925]; protein transport [GO:0015031]; regulation of cellular response to heat [GO:1900034]; regulation of glucose transport [GO:0010827]; tRNA export from nucleus [GO:0006409]; viral process [GO:0016032]; viral transcription [GO:0019083]	NA	NA	9734811; 14702039; 12853948; 15489334; 17900573; 17974005; 18669648; 19413330; 20068231; 21406692; 23186163
7	76128110	1756	N	<DUP>	149.61	DUP	0/1	76627334	DTX2	TRUE	Q86UW9	reviewed	Probable E3 ubiquitin-protein ligase DTX2 (EC 6.3.2.-) (Protein deltex-2) (Deltex2) (hDTX2) (RING finger protein 58)	DTX2 KIAA1528 RNF58	5 out of 5	NA	Notch signaling pathway [GO:0007219]; protein ubiquitination [GO:0016567]	NA	NA	12670957; 10819331; 14702039; 12853948; 15489334; 11564735; 18669648; 19608861; 23186163
7	100556042	1787	N	<DEL>	0.01	DEL	0/0	100607189	MUC3A	TRUE	Q02505	reviewed	Mucin-3A (MUC-3A) (Intestinal mucin-3A)	MUC3A MUC3	5 out of 5	TISSUE SPECIFICITY: Broad specificity; small intestine, colon, colonic tumors, heart, liver, thymus, prostate, pancreas and gall bladder. {ECO:0000269|PubMed:11289722}.	O-glycan processing [GO:0016266]	NA	NA	12853948; 12958310; 9334251; 10512748; 11289722; 10405327; 2393399; 18669648
7	141759820	1835	N	<DUP>	0.03	DUP	0/0	141786283	MGAM	TRUE	O43451	reviewed	Maltase-glucoamylase, intestinal [Includes: Maltase (EC 3.2.1.20) (Alpha-glucosidase); Glucoamylase (EC 3.2.1.3) (Glucan 1,4-alpha-glucosidase)]	MGAM MGA MGAML	5 out of 5	TISSUE SPECIFICITY: Expressed in small intestine, granulocyte, and kidney but not in salivary gland or pancreas.	polysaccharide digestion [GO:0044245]; starch catabolic process [GO:0005983]	NA	NA	9446624; 12853948; 15489334; 3143729; 3121301; 18036614
7	142199923	1853	N	<DUP>	0.16	DUP	0/0	142226534	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
7	150301029	1870	N	<DEL>	101.66	DEL	0/1	150379255	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
8	29921431	1950	N	<DEL>	86.02	DEL	0/1	29923502	SARAF	FALSE	Q96BY9	reviewed	Store-operated calcium entry-associated regulatory factor (SARAF) (SOCE-associated regulatory factor) (HBV X-transactivated gene 3 protein) (HBV XAg-transactivated protein 3) (Protein FOAP-7) (Transmembrane protein 66)	SARAF TMEM66 XTP3 HSPC035 NPD003 PSEC0019 UNQ1967/PRO4499	5 out of 5	TISSUE SPECIFICITY: Highly expressed in macrophages. {ECO:0000269|Ref.2}.	calcium ion transport [GO:0006816]; regulation of store-operated calcium entry [GO:2001256]	NA	NA	22464749; 11042152; 12975309; 16303743; 14702039; 16421571; 15489334; 15340161
8	29923656	1952	N	<DEL>	96.27	DEL	0/1	29927159	SARAF	TRUE	Q96BY9	reviewed	Store-operated calcium entry-associated regulatory factor (SARAF) (SOCE-associated regulatory factor) (HBV X-transactivated gene 3 protein) (HBV XAg-transactivated protein 3) (Protein FOAP-7) (Transmembrane protein 66)	SARAF TMEM66 XTP3 HSPC035 NPD003 PSEC0019 UNQ1967/PRO4499	5 out of 5	TISSUE SPECIFICITY: Highly expressed in macrophages. {ECO:0000269|Ref.2}.	calcium ion transport [GO:0006816]; regulation of store-operated calcium entry [GO:2001256]	NA	NA	22464749; 11042152; 12975309; 16303743; 14702039; 16421571; 15489334; 15340161
8	29923657	1951	N	<DEL>	140.77	DEL	0/1	29924292	SARAF	TRUE	Q96BY9	reviewed	Store-operated calcium entry-associated regulatory factor (SARAF) (SOCE-associated regulatory factor) (HBV X-transactivated gene 3 protein) (HBV XAg-transactivated protein 3) (Protein FOAP-7) (Transmembrane protein 66)	SARAF TMEM66 XTP3 HSPC035 NPD003 PSEC0019 UNQ1967/PRO4499	5 out of 5	TISSUE SPECIFICITY: Highly expressed in macrophages. {ECO:0000269|Ref.2}.	calcium ion transport [GO:0006816]; regulation of store-operated calcium entry [GO:2001256]	NA	NA	22464749; 11042152; 12975309; 16303743; 14702039; 16421571; 15489334; 15340161
8	29924436	1953	N	<DEL>	99.23	DEL	0/1	29927156	SARAF	FALSE	Q96BY9	reviewed	Store-operated calcium entry-associated regulatory factor (SARAF) (SOCE-associated regulatory factor) (HBV X-transactivated gene 3 protein) (HBV XAg-transactivated protein 3) (Protein FOAP-7) (Transmembrane protein 66)	SARAF TMEM66 XTP3 HSPC035 NPD003 PSEC0019 UNQ1967/PRO4499	5 out of 5	TISSUE SPECIFICITY: Highly expressed in macrophages. {ECO:0000269|Ref.2}.	calcium ion transport [GO:0006816]; regulation of store-operated calcium entry [GO:2001256]	NA	NA	22464749; 11042152; 12975309; 16303743; 14702039; 16421571; 15489334; 15340161
8	29927576	1954	N	<DEL>	1.44	DEL	0/0	29940362	SARAF	TRUE	Q96BY9	reviewed	Store-operated calcium entry-associated regulatory factor (SARAF) (SOCE-associated regulatory factor) (HBV X-transactivated gene 3 protein) (HBV XAg-transactivated protein 3) (Protein FOAP-7) (Transmembrane protein 66)	SARAF TMEM66 XTP3 HSPC035 NPD003 PSEC0019 UNQ1967/PRO4499	5 out of 5	TISSUE SPECIFICITY: Highly expressed in macrophages. {ECO:0000269|Ref.2}.	calcium ion transport [GO:0006816]; regulation of store-operated calcium entry [GO:2001256]	NA	NA	22464749; 11042152; 12975309; 16303743; 14702039; 16421571; 15489334; 15340161
8	39232074	1956	N	<DEL>	644.53	DEL	1/1	39387228	ADAM5	TRUE	Q6NVV9	reviewed	Putative disintegrin and metalloproteinase domain-containing protein 5 (Putative transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein II) (tMDC II)	ADAM5 ADAM5P TMDC2	3 out of 5	TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:10417343}.	NA	NA	NA	10417343; 16421571; 15489334
8	98788019	4396_2	N	]6:167333963]N	53.66	BND	0/1	NA	LAPTM4B	TRUE	Q86VI4	reviewed	Lysosomal-associated transmembrane protein 4B (Lysosome-associated transmembrane protein 4-beta)	LAPTM4B PSEC0001	3 out of 5	NA	transport [GO:0006810]	NA	NA	12902989; 16303743; 11230166; 15489334
8	98788336	2030	N	<DEL>	75.77	DEL	0/1	98817579	LAPTM4B	FALSE	Q86VI4	reviewed	Lysosomal-associated transmembrane protein 4B (Lysosome-associated transmembrane protein 4-beta)	LAPTM4B PSEC0001	3 out of 5	NA	transport [GO:0006810]	NA	NA	12902989; 16303743; 11230166; 15489334
8	98817692	2031	N	<DEL>	0.09	DEL	0/0	98827555	LAPTM4B	TRUE	Q86VI4	reviewed	Lysosomal-associated transmembrane protein 4B (Lysosome-associated transmembrane protein 4-beta)	LAPTM4B PSEC0001	3 out of 5	NA	transport [GO:0006810]	NA	NA	12902989; 16303743; 11230166; 15489334
8	98837383	2032	N	<DEL>	27.51	DEL	0/1	98863623	LAPTM4B	FALSE	Q86VI4	reviewed	Lysosomal-associated transmembrane protein 4B (Lysosome-associated transmembrane protein 4-beta)	LAPTM4B PSEC0001	3 out of 5	NA	transport [GO:0006810]	NA	NA	12902989; 16303743; 11230166; 15489334
8	144378548	2092	N	<DEL>	45.57	DEL	0/1	144378773	ZNF696	TRUE	Q9H7X3	reviewed	Zinc finger protein 696	ZNF696	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15489334
9	86237838	2178	N	<DEL>	29.93	DEL	0/1	86238094	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
9	110537535	2217	N	<DEL>	198.48	DEL	0/1	110540595	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
9	134139025	4575_1	N	N[11:108376122[	1.87	BND	0/0	NA	FAM78A	FALSE	Q5JUQ0	reviewed	Protein FAM78A	FAM78A C9orf59	2 out of 5	NA	NA	NA	NA	15164053; 15489334; 14702039
9	135759089	2249	N	<DEL>	258.88	DEL	0/1	135760130	SPACA9	TRUE	Q96E40	reviewed	Sperm acrosome-associated protein 9	SPACA9 C9orf9	3 out of 5	NA	NA	NA	NA	14702039; 15164053; 15489334
9	135759090	2248	N	<DUP>	86.77	DUP	0/1	135760268	SPACA9	TRUE	Q96E40	reviewed	Sperm acrosome-associated protein 9	SPACA9 C9orf9	3 out of 5	NA	NA	NA	NA	14702039; 15164053; 15489334
9	140772668	2265	N	<DEL>	375.66	DEL	0/1	140777194	CACNA1B	TRUE	Q00975	reviewed	Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)	CACNA1B CACH5 CACNL1A5	5 out of 5	TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.	locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269|PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	1321501; 15164053; 9030575; 25296916
9	140772669	2264	N	<DEL>	374.31	DEL	0/1	140773504	CACNA1B	FALSE	Q00975	reviewed	Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)	CACNA1B CACH5 CACNL1A5	5 out of 5	TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.	locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269|PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	1321501; 15164053; 9030575; 25296916
9	140773612	2266	N	<DEL>	314.98	DEL	0/1	140777194	CACNA1B	FALSE	Q00975	reviewed	Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)	CACNA1B CACH5 CACNL1A5	5 out of 5	TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.	locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269|PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	1321501; 15164053; 9030575; 25296916
9	140917829	2268	N	<DEL>	44.76	DEL	0/1	140918097	CACNA1B	TRUE	Q00975	reviewed	Voltage-dependent N-type calcium channel subunit alpha-1B (Brain calcium channel III) (BIII) (Calcium channel, L type, alpha-1 polypeptide isoform 5) (Voltage-gated calcium channel subunit alpha Cav2.2)	CACNA1B CACH5 CACNL1A5	5 out of 5	TISSUE SPECIFICITY: Isoform Alpha-1b-1 and isoform Alpha-1b-2 are expressed in the central nervous system, but not in skeletal muscle or aorta.	locomotory behavior [GO:0007626]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; neurotransmitter secretion [GO:0007269]; regulation of blood pressure [GO:0008217]; regulation of calcium ion transport [GO:0051924]; regulation of heart contraction [GO:0008016]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Dystonia 23 (DYT23) [MIM:614860]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT23 is an autosomal dominant dystonia affecting the face, neck, limbs. Some DYT23 patients manifest generalized myoclonus in addition to progressive action-induced multifocal dystonia. {ECO:0000269|PubMed:25296916}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	1321501; 15164053; 9030575; 25296916
10	45422941	2348	N	<DUP>	272.15	DUP	1/1	45424136	TMEM72	TRUE	A0PK05	reviewed	Transmembrane protein 72 (Kidney-specific secretory protein of 37 kDa)	TMEM72 C10orf127 KSP37	2 out of 5	NA	NA	NA	NA	15164054; 15489334
10	45423227	2349	N	<DEL>	180.68	DEL	0/1	45424150	TMEM72	TRUE	A0PK05	reviewed	Transmembrane protein 72 (Kidney-specific secretory protein of 37 kDa)	TMEM72 C10orf127 KSP37	2 out of 5	NA	NA	NA	NA	15164054; 15489334
10	106401273	2411	N	<DEL>	41.8	DEL	0/1	106401593	SORCS3	TRUE	Q9UPU3	reviewed	VPS10 domain-containing receptor SorCS3	SORCS3 KIAA1059	3 out of 5	TISSUE SPECIFICITY: Highly expressed in brain.	learning [GO:0007612]; memory [GO:0007613]; neuropeptide signaling pathway [GO:0007218]; regulation of long term synaptic depression [GO:1900452]	NA	NA	11499680; 10470851; 15164054
10	135242570	2458	N	<DUP>	14.1	DUP	0/1	135387331	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	7716915	2477	N	<DEL>	898.95	DEL	1/1	7717219	OVCH2	TRUE	Q7RTZ1	reviewed	Ovochymase-2 (EC 3.4.21.-) (Oviductin)	OVCH2 OVTN	4 out of 5	NA	NA	NA	NA	16554811; 12838346
11	47644331	2528	N	<DEL>	94.11	DEL	0/1	47647227	MTCH2	TRUE	Q9Y6C9	reviewed	Mitochondrial carrier homolog 2 (Met-induced mitochondrial protein)	MTCH2 MIMP HSPC032	5 out of 5	NA	hepatocyte apoptotic process [GO:0097284]; positive regulation of apoptotic process [GO:0043065]; protein localization to mitochondrion [GO:0070585]; regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902108]	NA	NA	12407445; 11042152; 14702039; 15489334; 19413330; 21269460; 24275569; 25944712
11	47660251	4647_1	N	]16:53044937]N	241.08	BND	0/1	NA	MTCH2	TRUE	Q9Y6C9	reviewed	Mitochondrial carrier homolog 2 (Met-induced mitochondrial protein)	MTCH2 MIMP HSPC032	5 out of 5	NA	hepatocyte apoptotic process [GO:0097284]; positive regulation of apoptotic process [GO:0043065]; protein localization to mitochondrion [GO:0070585]; regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902108]	NA	NA	12407445; 11042152; 14702039; 15489334; 19413330; 21269460; 24275569; 25944712
11	48387383	2534	N	<DEL>	47.99	DEL	0/1	48387802	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	48387388	2535	N	<DUP>	80.63	DUP	0/1	48388016	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	99690483	2606_1	N	N]11:99691307]	289.09	BND	0/1	NA	CNTN5	TRUE	O94779	reviewed	Contactin-5 (Neural recognition molecule NB-2) (hNB-2)	CNTN5	5 out of 5	TISSUE SPECIFICITY: Expressed in brain and kidney and at very low level in placenta. Not expressed in other tissues. In brain, it is highly expressed in the occipital lobe, amygdala, cerebral cortex, frontal lobe, thalamus and temporal lobe. Expressed at moderate level in the cerebellum, substantia nigra, putamen, medulla and hippocampus. Weakly expressed in the spinal cord and caudate nucleus. Weakly or not expressed in the corpus callosum. {ECO:0000269|PubMed:11013081}.	cell adhesion [GO:0007155]; sensory perception of sound [GO:0007605]	NA	NA	11013081; 16554811; 15489334; 20133774
12	8361450	2664	N	<DUP>	90.23	DUP	0/1	8390898	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	11192447	2676	N	<DEL>	105.17	DEL	0/1	11218061	PRH1-TAS2R14	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	26958660	2822	N	<DUP>	138.42	DUP	0/1	125356065	ITPR2	TRUE	Q14571	reviewed	Inositol 1,4,5-trisphosphate receptor type 2 (IP3 receptor isoform 2) (IP3R 2) (InsP3R2) (Type 2 inositol 1,4,5-trisphosphate receptor) (Type 2 InsP3 receptor)	ITPR2	5 out of 5	TISSUE SPECIFICITY: Isoform Short is found in skeletal muscle and heart.	cellular response to cAMP [GO:0071320]; cellular response to ethanol [GO:0071361]; platelet activation [GO:0030168]; regulation of cardiac conduction [GO:1903779]; regulation of insulin secretion [GO:0050796]; response to hypoxia [GO:0001666]; signal transduction [GO:0007165]; transport [GO:0006810]	DISEASE: Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190]: An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal. {ECO:0000269|PubMed:25329695}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	8081734; 9729462; 16541075; 12032348; 18669648; 21269460; 23186163; 25329695; 24275569
12	53344194	4148_2	N	N]2:32048486]	162.34	BND	0/1	NA	KRT18	FALSE	P05783	reviewed	Keratin, type I cytoskeletal 18 (Cell proliferation-inducing gene 46 protein) (Cytokeratin-18) (CK-18) (Keratin-18) (K18)	KRT18 CYK18 PIG46	5 out of 5	TISSUE SPECIFICITY: Expressed in colon, placenta, liver and very weakly in exocervix. Increased expression observed in lymph nodes of breast carcinoma. {ECO:0000269|PubMed:17213200, ECO:0000269|PubMed:2422083, ECO:0000269|PubMed:2434380, ECO:0000269|PubMed:2434381}.	anatomical structure morphogenesis [GO:0009653]; cell cycle [GO:0007049]; extrinsic apoptotic signaling pathway [GO:0097191]; Golgi to plasma membrane CFTR protein transport [GO:0043000]; hepatocyte apoptotic process [GO:0097284]; intermediate filament cytoskeleton organization [GO:0045104]; negative regulation of apoptotic process [GO:0043066]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]	DISEASE: Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension. {ECO:0000269|PubMed:12724528, ECO:0000269|PubMed:9011570}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	2434380; 15489334; 2454392; 2434381; 2422083; 9150948; 1371281; 7523419; 7538124; 8522591; 8609167; 9298992; 9524113; 10809736; 10954706; 11684708; 14756564; 15368451; 15529338; 15731013; 17081983; 16424149; 17213200; 17924679; 18691976; 18669648; 19608861; 20729549; 20068231; 21269460; 21406692; 22002106; 22814378; 23902688; 23186163; 24275569; 25114211; 9011570; 12724528
13	21732265	2862	N	<DEL>	46.11	DEL	0/1	21734037	SKA3	FALSE	Q8IX90	reviewed	Spindle and kinetochore-associated protein 3	SKA3 C13orf3 RAMA1	5 out of 5	NA	cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic nuclear division [GO:0007067]; regulation of microtubule polymerization or depolymerization [GO:0031110]	NA	NA	14702039; 15057823; 15489334; 15144186; 18669648; 19289083; 19360002; 19690332; 20813266; 20068231; 21406692; 23085020; 23186163
13	21734127	2863	N	<DEL>	13.67	DEL	0/1	21735928	SKA3	TRUE	Q8IX90	reviewed	Spindle and kinetochore-associated protein 3	SKA3 C13orf3 RAMA1	5 out of 5	NA	cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic nuclear division [GO:0007067]; regulation of microtubule polymerization or depolymerization [GO:0031110]	NA	NA	14702039; 15057823; 15489334; 15144186; 18669648; 19289083; 19360002; 19690332; 20813266; 20068231; 21406692; 23085020; 23186163
13	21736016	2864	N	<DEL>	63.91	DEL	0/1	21742126	SKA3	TRUE	Q8IX90	reviewed	Spindle and kinetochore-associated protein 3	SKA3 C13orf3 RAMA1	5 out of 5	NA	cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic nuclear division [GO:0007067]; regulation of microtubule polymerization or depolymerization [GO:0031110]	NA	NA	14702039; 15057823; 15489334; 15144186; 18669648; 19289083; 19360002; 19690332; 20813266; 20068231; 21406692; 23085020; 23186163
13	21742540	2865	N	<DEL>	81.43	DEL	0/1	21746477	SKA3	TRUE	Q8IX90	reviewed	Spindle and kinetochore-associated protein 3	SKA3 C13orf3 RAMA1	5 out of 5	NA	cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic nuclear division [GO:0007067]; regulation of microtubule polymerization or depolymerization [GO:0031110]	NA	NA	14702039; 15057823; 15489334; 15144186; 18669648; 19289083; 19360002; 19690332; 20813266; 20068231; 21406692; 23085020; 23186163
13	21746644	2866	N	<DEL>	53.39	DEL	0/1	21750512	SKA3	TRUE	Q8IX90	reviewed	Spindle and kinetochore-associated protein 3	SKA3 C13orf3 RAMA1	5 out of 5	NA	cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic nuclear division [GO:0007067]; regulation of microtubule polymerization or depolymerization [GO:0031110]	NA	NA	14702039; 15057823; 15489334; 15144186; 18669648; 19289083; 19360002; 19690332; 20813266; 20068231; 21406692; 23085020; 23186163
13	23487960	2873	N	<DUP>	106.75	DUP	0/1	24902221	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	37631609	3020	N	<DEL>	507.26	DEL	0/1	37771227	SLC25A21	TRUE	Q9BQT8	reviewed	Mitochondrial 2-oxodicarboxylate carrier (Solute carrier family 25 member 21)	SLC25A21 ODC	4 out of 5	TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11083877}.	lysine catabolic process [GO:0006554]; translation [GO:0006412]	NA	NA	11083877; 14702039; 12508121; 15489334; 21269460
14	93712482	4065_2	N	[1:9121449[N	456.29	BND	0/1	NA	BTBD7	TRUE	Q9P203	reviewed	BTB/POZ domain-containing protein 7	BTBD7 KIAA1525	4 out of 5	NA	multicellular organism development [GO:0007275]; regulation of branching involved in salivary gland morphogenesis [GO:0060693]	NA	NA	10819331; 14702039; 12508121; 15489334; 17974005; 20213681; 23186163
14	94830103	3049	N	<DUP>	0.01	DUP	0/0	94846691	SERPINA2	TRUE	P20848	reviewed	Putative alpha-1-antitrypsin-related protein (Protease inhibitor 1-like) (Serpin A2)	SERPINA2 ARGS ATR PIL SERPINA2P	5 out of 5	TISSUE SPECIFICITY: Expressed in the liver, leukocytes and testis. Also detected in brain, colon, uterus, esophagus, spleen, trachea, kidney and lung. {ECO:0000269|PubMed:17135331, ECO:0000269|PubMed:23826168}.	NA	NA	NA	2842251; 9383284; 17135331; 23826168
14	106051644	3100	N	<DUP>	167.01	DUP	1/1	106171828	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106082684	3103	N	<DUP>	384.58	DUP	1/1	106227317	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106330069	3104	N	<DEL>	253.7	DEL	1/1	106382686	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106330844	3105	N	<DEL>	413.66	DEL	0/1	106405610	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106650339	3113	N	<DUP>	0.02	DUP	0/0	106842073	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	106932640	3119	N	<DEL>	230.84	DEL	0/1	107174927	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	107038071	3127	N	<DUP>	219	DUP	0/1	107263505	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
15	23685138	3129	N	<DEL>	182.3	DEL	0/1	23685464	GOLGA6L2	TRUE	Q8N9W4	reviewed	Golgin subfamily A member 6-like protein 2	GOLGA6L2	3 out of 5	NA	NA	NA	NA	14702039; 16572171; 15489334
15	83296992	3214	N	<DEL>	393.46	DEL	0/1	83457791	CPEB1	TRUE	Q9BZB8	reviewed	Cytoplasmic polyadenylation element-binding protein 1 (CPE-BP1) (CPE-binding protein 1) (h-CPEB) (hCPEB-1)	CPEB1 CPEB	5 out of 5	TISSUE SPECIFICITY: Isoform 1 is expressed in immature oocytes, ovary, brain and heart. Isoform 2 is expressed in brain and heart. Isoform 3 and isoform 4 are expressed in brain. Expressed in breast tumors and several tumor cell lines. {ECO:0000269|PubMed:11223249, ECO:0000269|PubMed:15731006, ECO:0000269|PubMed:15966895}.	cellular response to amino acid stimulus [GO:0071230]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to lipopolysaccharide [GO:0071222]; mRNA processing [GO:0006397]; mRNA transport [GO:0051028]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cytoplasmic translation [GO:2000766]; positive regulation of cell migration [GO:0030335]; positive regulation of neuron projection development [GO:0010976]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of translation [GO:0045727]	NA	NA	11223249; 14702039; 15489334; 15966895; 15731006; 18669648; 19690332; 23500490
15	100686924	3233	N	<DUP>	122.04	DUP	0/1	100693158	ADAMTS17	TRUE	Q8TE56	reviewed	A disintegrin and metalloproteinase with thrombospondin motifs 17 (ADAM-TS 17) (ADAM-TS17) (ADAMTS-17) (EC 3.4.24.-)	ADAMTS17	5 out of 5	TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver. {ECO:0000269|PubMed:19836009}.	NA	DISEASE: Weill-Marchesani-like syndrome (WMLS) [MIM:613195]: A disorder characterized by many of the key features of Weill-Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent. {ECO:0000269|PubMed:19836009}. Note=The disease is caused by mutations affecting the gene represented in this entry.	363992;	11867212; 14702039; 16572171; 19836009
16	67438813	3298	N	<DEL>	65.53	DEL	0/1	67440634	ZDHHC1	TRUE	Q8WTX9	reviewed	Probable palmitoyltransferase ZDHHC1 (EC 2.3.1.225) (DHHC domain-containing cysteine-rich protein 1) (Zinc finger DHHC domain-containing protein 1) (DHHC-1) (Zinc finger protein 377)	ZDHHC1 C16orf1 ZNF377	4 out of 5	TISSUE SPECIFICITY: Expressed at high levels in fetal lung, kidney and heart. Expressed at lower levels in adult pancreas and lung. {ECO:0000269|PubMed:10395086}.	protein palmitoylation [GO:0018345]	NA	NA	15489334; 10395086
17	7564646	3353	N	<DEL>	0.44	DEL	0/0	7566196	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
17	7755720	3354	N	<DEL>	202.79	DEL	0/1	7755766	KDM6B	FALSE	O15054	reviewed	Lysine-specific demethylase 6B (EC 1.14.11.-) (JmjC domain-containing protein 3) (Jumonji domain-containing protein 3) (Lysine demethylase 6B)	KDM6B JMJD3 KIAA0346	5 out of 5	NA	cardiac muscle cell differentiation [GO:0055007]; cell fate commitment [GO:0045165]; cellular response to hydrogen peroxide [GO:0070301]; endothelial cell differentiation [GO:0045446]; hippocampus development [GO:0021766]; inflammatory response to antigenic stimulus [GO:0002437]; mesodermal cell differentiation [GO:0048333]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; response to activity [GO:0014823]; response to fungicide [GO:0060992]	NA	NA	9205841; 12168954; 16625196; 15489334; 17193924; 17825402; 17851529; 18003914; 23186163; 
17	61776379	3413	N	<DEL>	0.09	DEL	0/0	61776743	LIMD2	TRUE	Q9BT23	reviewed	LIM domain-containing protein 2	LIMD2 SB143	2 out of 5	NA	NA	NA	NA	14702039; 15489334; 19413330; 21269460
18	27577080	3502	N	<DEL>	175.56	DEL	0/1	67607714	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	605301	3530	N	<DEL>	47.73	DEL	0/1	608431	HCN2	TRUE	Q9UL51	reviewed	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 (Brain cyclic nucleotide-gated channel 2) (BCNG-2)	HCN2 BCNG2	5 out of 5	TISSUE SPECIFICITY: Highly expressed throughout the brain. Detected at low levels in heart. {ECO:0000269|PubMed:10228147, ECO:0000269|PubMed:9630217}.	cell-cell signaling [GO:0007267]; cellular response to cAMP [GO:0071320]; cellular response to cGMP [GO:0071321]; potassium ion transmembrane transport [GO:0071805]; regulation of membrane potential [GO:0042391]; sodium ion transmembrane transport [GO:0035725]	NA	NA	10524219; 10228147; 15057824; 9630217; 18669648; 22006928
19	4005348	3542	N	<DEL>	183.65	DEL	0/1	4159437	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	11517485	3555	N	<DEL>	136.45	DEL	0/1	11518622	RGL3	TRUE	Q3MIN7	reviewed	Ral guanine nucleotide dissociation stimulator-like 3 (RalGDS-like 3)	RGL3	3 out of 5	NA	small GTPase mediated signal transduction [GO:0007264]	NA	NA	15057824; 15489334; 18669648; 20068231; 21406692; 23186163; 24275569
19	19258022	3575	N	<DEL>	124.59	DEL	0/1	19258292	BORCS8-MEF2B	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	21778292	3594	N	<DEL>	80.9	DEL	0/1	22618252	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	22252502	3592	N	<DEL>	0.08	DEL	0/0	22485266	ZNF257	TRUE	Q9Y2Q1	reviewed	Zinc finger protein 257 (Bone marrow zinc finger 4) (BMZF-4)	ZNF257 BMZF4	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	10585455; 14702039; 15057824; 15489334
19	23505743	3602	N	<DUP>	63.33	DUP	0/1	23650985	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	46622738	3646	N	<DEL>	368.38	DEL	0/1	46628312	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	53353005	3661	N	<DEL>	0.83	DEL	0/0	53391852	ZNF468	TRUE	Q5VIY5	reviewed	Zinc finger protein 468	ZNF468	3 out of 5	TISSUE SPECIFICITY: Isoform 1 and isoform 2 are highly expressed in placenta, pancreas, and small intestine. Lower expression in colon, ovary, testis, prostate, thymus, spleen, kidney, and liver. No expression detected in heart and brain. {ECO:0000269|PubMed:16144304}.	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	16144304; 17974005; 15057824; 
19	53936713	3670	N	<DEL>	8.48	DEL	0/1	53973467	ZNF761	TRUE	Q86XN6	reviewed	Zinc finger protein 761	ZNF761 KIAA2033	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824
19	53946010	3673	N	<DUP>	0.28	DUP	0/0	53983592	ZNF761	TRUE	Q86XN6	reviewed	Zinc finger protein 761	ZNF761 KIAA2033	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824
19	54555528	3674	N	<DEL>	1.96	DEL	0/0	54560642	VSTM1	TRUE	Q6UX27	reviewed	V-set and transmembrane domain-containing protein 1 (Signal inhibitory receptor on leukocytes-1) (SIRL-1)	VSTM1 UNQ3033/PRO9835	5 out of 5	TISSUE SPECIFICITY: Expressed on myeloid (neutrophils, eosinophils and monocytes) but not on lymphoid cells. {ECO:0000269|PubMed:20375307}.	immune system process [GO:0002376]	NA	NA	22960280; 20375307; 12975309; 15057824; 15489334; 15340161
20	62899497	3769	N	<DEL>	0.02	DEL	0/0	62903557	PCMTD2	FALSE	Q9NV79	reviewed	Protein-L-isoaspartate O-methyltransferase domain-containing protein 2	PCMTD2 C20orf36	3 out of 5	NA	NA	NA	NA	14702039; 11780052; 15489334
22	24274144	3830	N	<DEL>	390.85	DEL	1/1	24311297	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
22	45745408	3857	N	<DUP>	0.01	DUP	0/0	45746446	SMC1B	FALSE	Q8NDV3	reviewed	Structural maintenance of chromosomes protein 1B (SMC protein 1B) (SMC-1-beta) (SMC-1B)	SMC1B SMC1L2	5 out of 5	NA	meiotic nuclear division [GO:0007126]; sister chromatid cohesion [GO:0007062]	NA	NA	14660695; 10591208; 15489334; 14702039
X	52886720	3910	N	<DUP>	288.02	DUP	1/1	55678959	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
X	52891982	3911	N	<DEL>	55.28	DEL	0/1	55678954	XAGE3	TRUE	Q8WTP9	reviewed	X antigen family member 3 (XAGE-3) (Cancer/testis antigen 12.3) (CT12.3) (G antigen family D member 4) (Placenta-specific gene 6 protein)	XAGE3 GAGED4 PLAC6 PP9012	2 out of 5	NA	NA	NA	NA	11992404; 15498874; 15772651; 15489334
X	134988345	3947	N	<DUP>	0.13	DUP	0/0	134988765	SAGE1	TRUE	Q9NXZ1	reviewed	Sarcoma antigen 1 (Cancer/testis antigen 14) (CT14)	SAGE1 SAGE	2 out of 5	TISSUE SPECIFICITY: Expressed mainly in bladder, lung, head and neck carcinomas. Not expressed in normal tissues except for testis. {ECO:0000269|PubMed:10919659}.	NA	NA	NA	10919659; 15772651; 18669648; 23186163
X	154871075	3963	N	<DUP>	0.03	DUP	0/0	155187905	SPRY3	TRUE	O43610	reviewed	Protein sprouty homolog 3 (Spry-3)	SPRY3	3 out of 5	TISSUE SPECIFICITY: Widely expressed; particularly in the fetal tissues.	axon development [GO:0061564]; multicellular organism development [GO:0007275]; regulation of signal transduction [GO:0009966]	NA	NA	10655549; 14702039; 15772651; 15489334; 9458049
