chromosome	final_positions	variant_type	ref_allele	alt_allele	final_variations	conservation	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	883899	nonsynonymous	T	G	0.37037037037037	1	NOC2L	TRUE	Q9Y3T9	reviewed	Nucleolar complex protein 2 homolog (Protein NOC2 homolog) (NOC2-like protein) (Novel INHAT repressor)	NOC2L NIR	5 out of 5	NA	apoptotic process [GO:0006915]; cellular response to UV [GO:0034644]; chromatin assembly [GO:0031497]; negative regulation of B cell apoptotic process [GO:0002903]; negative regulation of histone acetylation [GO:0035067]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; nucleolus to nucleoplasm transport [GO:0032066]; regulation of signal transduction by p53 class mediator [GO:1901796]; ribosomal large subunit biogenesis [GO:0042273]; transcription, DNA-templated [GO:0006351]	NA	NA	16322561; 11230166; 16710414; 15489334; 12429849; 17081983; 18691976; 18669648; 19413330; 19690332; 20123734; 20068231; 21269460; 20959462; 21406692; 23186163; 24275569
1	914414	nonsynonymous	CGAAGAAGAAGT	CGAAGAAGT	0.461538461538462	0	PERM1	TRUE	Q5SV97	reviewed	PGC-1 and ERR-induced regulator in muscle protein 1 (PPARGC1 and ESRR-induced regulator in muscle 1) (Peroxisome proliferator-activated receptor gamma coactivator 1 and estrogen-related receptor-induced regulator in muscle 1)	PERM1 C1orf170	3 out of 5	TISSUE SPECIFICITY: Muscle-specific expression is increased by endurance exercise. {ECO:0000269|PubMed:23836911}.	regulation of transcription, DNA-templated [GO:0006355]; response to muscle activity [GO:0014850]; transcription, DNA-templated [GO:0006351]	NA	NA	23836911; 14702039; 16710414; 15489334
1	1636330	nonsynonymous	G	A	0.352941176470588	0	CDK11B	FALSE	P21127	reviewed	Cyclin-dependent kinase 11B (EC 2.7.11.22) (Cell division cycle 2-like protein kinase 1) (CLK-1) (Cell division protein kinase 11B) (Galactosyltransferase-associated protein kinase p58/GTA) (PITSLRE serine/threonine-protein kinase CDC2L1) (p58 CLK-1)	CDK11B CDC2L1 CDK11 PITSLREA PK58	5 out of 5	TISSUE SPECIFICITY: Expressed ubiquitously. Some evidence of isoform-specific tissue distribution. {ECO:0000269|PubMed:8195233, ECO:0000269|PubMed:9750192}.	apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; mitotic nuclear division [GO:0007067]; protein phosphorylation [GO:0006468]; regulation of cell growth [GO:0001558]; regulation of mRNA processing [GO:0050684]; regulation of transcription, DNA-templated [GO:0006355]	NA	NA	2217177; 2006197; 1639388; 8195233; 9750192; 9580558; 10882096; 14511641; 12501247; 12624090; 15883043; 17081983; 16964243; 16327805; 18216018; 18220336; 18669648; 19690332; 20068231; 21406692; 23186163; 24275569; 17344846
1	1636330	nonsynonymous	G	A	0.352941176470588	0	CDK11A	FALSE	Q9UQ88	reviewed	Cyclin-dependent kinase 11A (EC 2.7.11.22) (Cell division cycle 2-like protein kinase 2) (Cell division protein kinase 11A) (Galactosyltransferase-associated protein kinase p58/GTA) (PITSLRE serine/threonine-protein kinase CDC2L2)	CDK11A CDC2L2 CDC2L3 PITSLREB	5 out of 5	TISSUE SPECIFICITY: Expressed ubiquitously. Some evidence of isoform-specific tissue distribution. {ECO:0000269|PubMed:8195233, ECO:0000269|PubMed:9750192}.	apoptotic process [GO:0006915]; mitotic nuclear division [GO:0007067]; protein phosphorylation [GO:0006468]; regulation of cell growth [GO:0001558]; regulation of mRNA processing [GO:0050684]; regulation of transcription, DNA-templated [GO:0006355]	NA	NA	8195233; 9750192; 16710414; 15489334; 12501247; 10882096; 12624090
1	1669844	frameshift	CCAC	CC	0.3	1	SLC35E2	TRUE	P0CK97	reviewed	Solute carrier family 35 member E2	SLC35E2	2 out of 5	NA	NA	NA	NA	16710414; 15489334
1	2433894	nonsynonymous	G	A	0.368421052631579	0	PLCH2	TRUE	O75038	reviewed	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 (EC 3.1.4.11) (Phosphoinositide phospholipase C-eta-2) (Phosphoinositide phospholipase C-like 4) (PLC-L4) (Phospholipase C-like protein 4) (Phospholipase C-eta-2) (PLC-eta2)	PLCH2 KIAA0450 PLCL4	5 out of 5	TISSUE SPECIFICITY: Expressed in retina and kidney. {ECO:0000269|PubMed:16107206}.	inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; lipid catabolic process [GO:0016042]; phosphatidylinositol metabolic process [GO:0046488]	NA	NA	16107206; 9455484; 16710414; 15489334
1	6111721	nonsynonymous	C	T	0.363636363636364	0.7	KCNAB2	FALSE	Q13303	reviewed	Voltage-gated potassium channel subunit beta-2 (EC 1.1.1.-) (K(+) channel subunit beta-2) (Kv-beta-2) (hKvbeta2)	KCNAB2 KCNA2B KCNK2	5 out of 5	TISSUE SPECIFICITY: Detected in myelinated nerve fibers in the spinal cord, in the juxtaparanodal region of the nodes of Ranvier, but also in the paranodal region (PubMed:11086297). Detected in hippocampus (at protein level) (PubMed:21357749). Detected in hippocampus (PubMed:7649300). {ECO:0000269|PubMed:11086297, ECO:0000269|PubMed:21357749, ECO:0000269|PubMed:7649300}.	hematopoietic progenitor cell differentiation [GO:0002244]; NADPH oxidation [GO:0070995]; neuromuscular process [GO:0050905]; oxidation-reduction process [GO:0055114]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of protein localization to cell surface [GO:2000008]	NA	1606;	7649300; 14702039; 16710414; 15489334; 11086297; 11825900; 19690332; 19608861; 21269460; 21357749; 22814378; 23186163; 25944712; 
1	9796038	nonsynonymous	C	T	0.416666666666667	1	CLSTN1	TRUE	O94985	reviewed	Calsyntenin-1 (Alcadein-alpha) (Alc-alpha) (Alzheimer-related cadherin-like protein) (Non-classical cadherin XB31alpha) [Cleaved into: Soluble Alc-alpha (SAlc-alpha); CTF1-alpha (C-terminal fragment 1-alpha)]	CLSTN1 CS1 KIAA0911	5 out of 5	TISSUE SPECIFICITY: Expressed in the brain and, a lower level, in the heart, skeletal muscle, kidney and placenta. Accumulates in dystrophic neurites around the amyloid core of Alzheimer disease senile plaques (at protein level). {ECO:0000269|PubMed:12498782, ECO:0000269|PubMed:12972431}.	cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission [GO:0050806]; regulation of cell growth [GO:0001558]	NA	NA	12972431; 10048485; 14702039; 16710414; 15489334; 15037614; 12498782; 17332754
1	12907518	nonsynonymous	TC	AA	0.314285714285714	1	HNRNPCL4	TRUE	P0DMR1	reviewed	Heterogeneous nuclear ribonucleoprotein C-like 4	HNRNPCL4	2 out of 5	NA	NA	NA	NA	16710414
1	12907518	nonsynonymous	TC	AA	0.314285714285714	1	HNRNPCL3	TRUE	B7ZW38	reviewed	Heterogeneous nuclear ribonucleoprotein C-like 3	HNRNPCL3	2 out of 5	NA	NA	NA	NA	16710414; 15489334
1	12907518	nonsynonymous	TC	AA	0.314285714285714	1	HNRNPCL1	TRUE	O60812	reviewed	Heterogeneous nuclear ribonucleoprotein C-like 1 (hnRNP C-like-1) (hnRNP core protein C-like 1)	HNRNPCL1 HNRPCL1	3 out of 5	NA	NA	NA	NA	16710414; 15489334
1	12919642	nonsynonymous	G	A	0.324324324324324	0	PRAMEF2	TRUE	O60811	reviewed	PRAME family member 2	PRAMEF2	4 out of 5	NA	negative regulation of apoptotic process [GO:0043066]; negative regulation of cell differentiation [GO:0045596]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]	NA	NA	16710414; 15489334
1	12919682	nonsynonymous	C	T	0.324324324324324	0	PRAMEF2	TRUE	O60811	reviewed	PRAME family member 2	PRAMEF2	4 out of 5	NA	negative regulation of apoptotic process [GO:0043066]; negative regulation of cell differentiation [GO:0045596]; negative regulation of retinoic acid receptor signaling pathway [GO:0048387]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]	NA	NA	16710414; 15489334
1	15655944	nonsynonymous	G	A	0.388888888888889	0	FHAD1	TRUE	B1AJZ9	reviewed	Forkhead-associated domain-containing protein 1 (FHA domain-containing protein 1)	FHAD1 KIAA1937	2 out of 5	NA	NA	NA	NA	16710414; 14702039
1	17944934	nonsynonymous	C	T	0.384615384615385	1	ARHGEF10L	FALSE	Q9HCE6	reviewed	Rho guanine nucleotide exchange factor 10-like protein (GrinchGEF)	ARHGEF10L GRINCHGEF KIAA1626	5 out of 5	TISSUE SPECIFICITY: Detected in heart, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:16112081}.	regulation of Rho protein signal transduction [GO:0035023]	NA	NA	16112081; 10997877; 14702039; 16710414; 15489334; 21269460; 24275569; 16959974
1	22927241	nonsynonymous	G	A	0.461538461538462	1	EPHA8	TRUE	P29322	reviewed	Ephrin type-A receptor 8 (EC 2.7.10.1) (EPH- and ELK-related kinase) (EPH-like kinase 3) (EK3) (hEK3) (Tyrosine-protein kinase receptor EEK)	EPHA8 EEK HEK3 KIAA1459	5 out of 5	NA	axon guidance [GO:0007411]; cell adhesion [GO:0007155]; ephrin receptor signaling pathway [GO:0048013]; neuron projection development [GO:0031175]; neuron remodeling [GO:0016322]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; protein autophosphorylation [GO:0046777]; regulation of cell adhesion [GO:0030155]; regulation of cell adhesion mediated by integrin [GO:0033628]; substrate-dependent cell migration [GO:0006929]	NA	NA	16710414; 15489334; 10819331; 1648701; 9267020; 10498895; 11416136; 17875921; 20496116; 17344846
1	27676125	nonsynonymous	C	T	0.666666666666667	0	SYTL1	FALSE	Q8IYJ3	reviewed	Synaptotagmin-like protein 1 (Exophilin-7) (Protein JFC1)	SYTL1 SLP1 SB146	5 out of 5	TISSUE SPECIFICITY: Highly expressed in bone marrow and lymphoid tissues. Detected at lower levels in cerebellum, occipital lobe, prostate, stomach, kidney, appendix, lung and trachea. Expressed in cytotoxic T-lymphocytes (CTL). {ECO:0000269|PubMed:11278853, ECO:0000269|PubMed:18266782}.	calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]; regulation of calcium ion-dependent exocytosis [GO:0017158]; vesicle fusion [GO:0006906]	NA	NA	14702039; 16710414; 15489334; 11278853; 18266782; 19690332; 23186163
1	40218695	nonsynonymous	G	A	0.5	1	PPIE	TRUE	Q9UNP9	reviewed	Peptidyl-prolyl cis-trans isomerase E (PPIase E) (EC 5.2.1.8) (Cyclophilin E) (Cyclophilin-33) (Rotamase E)	PPIE CYP33	5 out of 5	TISSUE SPECIFICITY: Found in all the examined tissues including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.	mRNA splicing, via spliceosome [GO:0000398]; positive regulation of viral genome replication [GO:0045070]; protein folding [GO:0006457]; regulation of transcription, DNA-templated [GO:0006355]; transcription-coupled nucleotide-excision repair [GO:0006283]	NA	NA	9747881; 14702039; 16710414; 15489334; 8977107; 11991638; 17981804; 21269460; 23186163; 24275569; 
1	53370357	nonsense	G	T	0.4	1	ECHDC2	TRUE	Q86YB7	reviewed	Enoyl-CoA hydratase domain-containing protein 2, mitochondrial	ECHDC2	2 out of 5	NA	fatty acid metabolic process [GO:0006631]	NA	NA	14702039; 15489334; 24275569
1	67147696	nonsynonymous	C	T	0.540540540540541	1	SGIP1	FALSE	Q9BQI5	reviewed	SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein)	SGIP1	5 out of 5	TISSUE SPECIFICITY: Specifically expressed in brain. {ECO:0000269|PubMed:15919751}.	endocytosis [GO:0006897]; membrane tubulation [GO:0097320]; positive regulation of energy homeostasis [GO:2000507]; positive regulation of feeding behavior [GO:2000253]; positive regulation of receptor-mediated endocytosis [GO:0048260]; response to dietary excess [GO:0002021]	NA	NA	11230166; 17974005; 16710414; 15489334; 15919751; 20946875; 21407171
1	70460304	nonsynonymous	A	G	0.434782608695652	1	LRRC7	TRUE	Q96NW7	reviewed	Leucine-rich repeat-containing protein 7 (Densin-180) (Densin) (Protein LAP1)	LRRC7 KIAA1365 LAP1	5 out of 5	TISSUE SPECIFICITY: Brain-specific. Isoform 3 is ubiquitously expressed. {ECO:0000269|PubMed:12525888}.	positive regulation of neuron projection development [GO:0010976]; response to organic cyclic compound [GO:0014070]	NA	NA	11729199; 12525888; 16710414; 17974005; 10718198; 16959974
1	74671074	nonsynonymous	C	T	0.392857142857143	1	FPGT-TNNI3K	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	74671074	nonsynonymous	C	T	0.392857142857143	1	FPGT	TRUE	O14772	reviewed	Fucose-1-phosphate guanylyltransferase (EC 2.7.7.30) (GDP-L-fucose diphosphorylase) (GDP-L-fucose pyrophosphorylase)	FPGT GFPP	5 out of 5	TISSUE SPECIFICITY: Expressed in many tissues.	fucose metabolic process [GO:0006004]	NA	NA	9804772; 14702039; 16710414; 15489334
1	99161184	nonsynonymous	C	A	0.548387096774194	1	SNX7	TRUE	Q9UNH6	reviewed	Sorting nexin-7	SNX7	4 out of 5	NA	endocytosis [GO:0006897]; protein transport [GO:0015031]; vesicle organization [GO:0016050]	NA	NA	14702039; 16710414; 15489334; 11485546; 17974005; 21269460; 
1	109837853	nonsynonymous	G	A	0.384615384615385	0.1	MYBPHL	TRUE	A2RUH7	reviewed	Myosin-binding protein H-like	MYBPHL	2 out of 5	NA	NA	NA	NA	16710414; 15489334
1	119964933	nonsynonymous	T	C	0.393939393939394	0	HSD3B2	TRUE	P26439	reviewed	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II) (3-beta-HSD II) (3-beta-HSD adrenal and gonadal type) [Includes: 3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC 1.1.1.145) (3-beta-hydroxy-5-ene steroid dehydrogenase) (Progesterone reductase); Steroid Delta-isomerase (EC 5.3.3.1) (Delta-5-3-ketosteroid isomerase)]	HSD3B2 HSDB3B	5 out of 5	TISSUE SPECIFICITY: Expressed in adrenal gland, testis and ovary.	androgen biosynthetic process [GO:0006702]; glucocorticoid biosynthetic process [GO:0006704]; mineralocorticoid biosynthetic process [GO:0006705]; steroid biosynthetic process [GO:0006694]	DISEASE: Adrenal hyperplasia 2 (AH2) [MIM:201810]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. {ECO:0000269|PubMed:10599696, ECO:0000269|PubMed:10651755, ECO:0000269|PubMed:10843183, ECO:0000269|PubMed:12050213, ECO:0000269|PubMed:18252794, ECO:0000269|PubMed:22579964, ECO:0000269|PubMed:7608265, ECO:0000269|PubMed:7633426, ECO:0000269|PubMed:7633460, ECO:0000269|PubMed:7833923, ECO:0000269|PubMed:7893703, ECO:0000269|PubMed:7962268, ECO:0000269|PubMed:8060486, ECO:0000269|PubMed:8126127, ECO:0000269|PubMed:8185809, ECO:0000269|PubMed:8316254, ECO:0000269|PubMed:9719627}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion. {ECO:0000269|PubMed:14764797}.	90791;3185;	1741954; 1944309; 17974005; 16710414; 15489334; 7588414; 1363812; 14764797; 8316254; 7833923; 8126127; 7962268; 8185809; 8060486; 7893703; 7633426; 7633460; 7608265; 9719627; 10599696; 10651755; 10843183; 12050213; 18252794; 22579964
1	145515696	nonsynonymous	A	T	0.40625	0.9	NBPF20	FALSE	Q3BBV1	reviewed	Neuroblastoma breakpoint family member 20	NBPF20	2 out of 5	NA	NA	NA	NA	16079250
1	145515696	nonsynonymous	A	T	0.40625	0.9	NBPF10	FALSE	Q6P3W6	reviewed	Neuroblastoma breakpoint family member 10	NBPF10	3 out of 5	NA	NA	NA	NA	14702039; 16710414; 15489334
1	145515696	nonsynonymous	A	T	0.40625	0.9	GNRHR2	TRUE	Q96P88	reviewed	Putative gonadotropin-releasing hormone II receptor (GnRH II receptor) (GnRH-II-R) (Type II GnRH receptor)	GNRHR2	4 out of 5	TISSUE SPECIFICITY: Expressed in many tissues. {ECO:0000269|PubMed:11861490}.	cellular response to gonadotropin-releasing hormone [GO:0097211]	NA	NA	11707068; 11861490; 16710414; 12538601; 19657181
1	146395390	nonsynonymous	A	C	0.363636363636364	0	NBPF20	FALSE	Q3BBV1	reviewed	Neuroblastoma breakpoint family member 20	NBPF20	2 out of 5	NA	NA	NA	NA	16079250
1	146395390	nonsynonymous	A	C	0.363636363636364	0	NBPF10	FALSE	Q6P3W6	reviewed	Neuroblastoma breakpoint family member 10	NBPF10	3 out of 5	NA	NA	NA	NA	14702039; 16710414; 15489334
1	146395390	nonsynonymous	A	C	0.363636363636364	0	NBPF25P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	146395390	nonsynonymous	A	C	0.363636363636364	0	NBPF12	TRUE	Q5TAG4	reviewed	Neuroblastoma breakpoint family member 12 (Chromosome 1 amplified sequence 1)	NBPF12 COAS1 KIAA1245	2 out of 5	TISSUE SPECIFICITY: Widely expressed with highest levels in brain, ovary, mammary gland, skin and adipose tissue. Also expressed in testis. Detected in a number of tumors including osteosarcoma, mammary carcinoma and hepatocellular carcinoma. {ECO:0000269|PubMed:11948409, ECO:0000269|PubMed:16079250}.	NA	NA	NA	16710414; 11948409; 16079250
1	151105076	nonsynonymous	G	A	0.571428571428571	1	SEMA6C	TRUE	Q9H3T2	reviewed	Semaphorin-6C (Semaphorin-Y) (Sema Y)	SEMA6C KIAA1869 SEMAY	5 out of 5	TISSUE SPECIFICITY: In adult tissues, expressed only in skeletal muscle. {ECO:0000269|PubMed:12110693}.	axon guidance [GO:0007411]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; semaphorin-plexin signaling pathway [GO:0071526]	NA	NA	12110693; 11347906; 16710414; 
1	153431435	nonsynonymous	T	G	0.461538461538462	0	S100A7	TRUE	P31151	reviewed	Protein S100-A7 (Psoriasin) (S100 calcium-binding protein A7)	S100A7 PSOR1 S100A7C	5 out of 5	TISSUE SPECIFICITY: Fetal ear, skin, and tongue and human cell lines. Highly up-regulated in psoriatic epidermis. Also highly expressed in the urine of bladder squamous cell carcinoma (SCC) bearing patients. {ECO:0000269|PubMed:8618345}.	angiogenesis [GO:0001525]; defense response to Gram-negative bacterium [GO:0050829]; epidermis development [GO:0008544]; innate immune response [GO:0045087]; keratinocyte differentiation [GO:0030216]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of granulocyte chemotaxis [GO:0071624]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of T cell chemotaxis [GO:0010820]; response to lipopolysaccharide [GO:0032496]; response to reactive oxygen species [GO:0000302]; sequestering of metal ion [GO:0051238]	NA	NA	1940442; 16710414; 15489334; 8526920; 1286667; 8618345; 12421467; 12664160; 21269460; 9562557; 10026247
1	155721911	nonsynonymous	C	T	0.533333333333333	1	GON4L	TRUE	Q3T8J9	reviewed	GON-4-like protein (GON-4 homolog)	GON4L GON4 KIAA1606	5 out of 5	NA	B cell differentiation [GO:0030183]; negative regulation of transcription, DNA-templated [GO:0045892]; transcription, DNA-templated [GO:0006351]	NA	NA	11230166; 16710414; 15489334; 10997877; 17370265; 19413330; 21406692; 23186163
1	156830779	nonsynonymous	G	A	0.5	1	NTRK1	FALSE	P04629	reviewed	High affinity nerve growth factor receptor (EC 2.7.10.1) (Neurotrophic tyrosine kinase receptor type 1) (TRK1-transforming tyrosine kinase protein) (Tropomyosin-related kinase A) (Tyrosine kinase receptor) (Tyrosine kinase receptor A) (Trk-A) (gp140trk) (p140-TrkA)	NTRK1 MTC TRK TRKA	5 out of 5	TISSUE SPECIFICITY: Isoform TrkA-I is found in most non-neuronal tissues. Isoform TrkA-II is primarily expressed in neuronal cells. TrkA-III is specifically expressed by pluripotent neural stem and neural crest progenitors. {ECO:0000269|PubMed:15488758, ECO:0000269|PubMed:8325889}.	activation of MAPKK activity [GO:0000186]; aging [GO:0007568]; axon guidance [GO:0007411]; axonogenesis involved in innervation [GO:0060385]; B cell differentiation [GO:0030183]; behavioral response to formalin induced pain [GO:0061368]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to nicotine [GO:0071316]; circadian rhythm [GO:0007623]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; developmental programmed cell death [GO:0010623]; learning or memory [GO:0007611]; mechanoreceptor differentiation [GO:0042490]; microtubule-based movement [GO:0007018]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron apoptotic process [GO:0043524]; neurotrophin TRK receptor signaling pathway [GO:0048011]; olfactory nerve development [GO:0021553]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of angiogenesis [GO:0045766]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of GTPase activity [GO:0043547]; positive regulation of neuron projection development [GO:0010976]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of programmed cell death [GO:0043068]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of Ras protein signal transduction [GO:0046579]; positive regulation of synapse assembly [GO:0051965]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; response to activity [GO:0014823]; response to axon injury [GO:0048678]; response to drug [GO:0042493]; response to electrical stimulus [GO:0051602]; response to ethanol [GO:0045471]; response to hydrostatic pressure [GO:0051599]; response to nutrient levels [GO:0031667]; response to radiation [GO:0009314]; Sertoli cell development [GO:0060009]; sympathetic nervous system development [GO:0048485]	DISEASE: Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800]: Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II. {ECO:0000269|PubMed:10090906, ECO:0000269|PubMed:10233776, ECO:0000269|PubMed:10330344, ECO:0000269|PubMed:10567924, ECO:0000269|PubMed:10861667, ECO:0000269|PubMed:10982191, ECO:0000269|PubMed:11310631, ECO:0000269|PubMed:22302274, ECO:0000269|PubMed:8696348}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=Chromosomal aberrations involving NTRK1 are found in papillary thyroid carcinomas (PTCs) (PubMed:2869410, PubMed:7565764, PubMed:1532241). Translocation t(1;3)(q21;q11) with TFG generates the TRKT3 (TRK-T3) transcript by fusing TFG to the 3'-end of NTRK1 (PubMed:7565764). A rearrangement with TPM3 generates the TRK transcript by fusing TPM3 to the 3'-end of NTRK1 (PubMed:2869410). An intrachromosomal rearrangement that links the protein kinase domain of NTRK1 to the 5'-end of the TPR gene forms the fusion protein TRK-T1. TRK-T1 is a 55 kDa protein reacting with antibodies against the C-terminus of the NTRK1 protein (PubMed:1532241). {ECO:0000269|PubMed:1532241, ECO:0000269|PubMed:2869410, ECO:0000269|PubMed:7565764}.	99361;642;64752;146;	2927393; 7823156; 9290260; 14702039; 16710414; 15489334; 15870692; 2869410; 2966065; 7565764; 1532241; 1850821; 1849459; 8325889; 7510697; 8155326; 11244088; 15488758; 21102451; 8524391; 10388563; 10490030; 17196528; 8696348; 10090906; 10330344; 10443680; 10233776; 10391209; 10861667; 10982191; 10567924; 11310631; 11159935; 17344846; 22302274
1	158548788	nonsynonymous	A	G	0.666666666666667	0.9	OR10X1	TRUE	Q8NGY0	reviewed	Olfactory receptor 10X1 (Olfactory receptor OR1-14)	OR10X1 OR10X1P	4 out of 5	NA	cell surface receptor signaling pathway [GO:0007166]; G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	16710414; 14983052; 12730696
1	161518286	nonsynonymous	C	T	0.276595744680851	0	FCGR3A	TRUE	P08637	reviewed	Low affinity immunoglobulin gamma Fc region receptor III-A (CD16a antigen) (Fc-gamma RIII-alpha) (Fc-gamma RIII) (Fc-gamma RIIIa) (FcRIII) (FcRIIIa) (FcR-10) (IgG Fc receptor III-2) (CD antigen CD16a)	FCGR3A CD16A FCG3 FCGR3 IGFR3	5 out of 5	TISSUE SPECIFICITY: Expressed on natural killer cells, macrophages, subpopulation of T-cells, immature thymocytes and placental trophoblasts.	Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; regulation of immune response [GO:0050776]	DISEASE: Immunodeficiency 20 (IMD20) [MIM:615707]: A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). {ECO:0000269|PubMed:23006327, ECO:0000269|PubMed:8608639, ECO:0000269|PubMed:8609432, ECO:0000269|PubMed:8874200}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	2526846; 16951347; 16710414; 15489334; 7836402; 7700021; 2525780; 22023369; 21768335; 8609432; 9242542; 9276722; 8874200; 8608639; 23006327
1	169586281	nonsynonymous	C	T	0.628571428571429	1	SELP	TRUE	P16109	reviewed	P-selectin (CD62 antigen-like family member P) (Granule membrane protein 140) (GMP-140) (Leukocyte-endothelial cell adhesion molecule 3) (LECAM3) (Platelet activation dependent granule-external membrane protein) (PADGEM) (CD antigen CD62P)	SELP GMRP GRMP	5 out of 5	TISSUE SPECIFICITY: Stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. Upon cell activation by agonists, P-selectin is transported rapidly to the cell surface.	calcium-mediated signaling using intracellular calcium source [GO:0035584]; cell adhesion [GO:0007155]; defense response to Gram-negative bacterium [GO:0050829]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; inflammatory response [GO:0006954]; leukocyte cell-cell adhesion [GO:0007159]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]; platelet degranulation [GO:0002576]; positive regulation of cell adhesion [GO:0045785]; positive regulation of leukocyte migration [GO:0002687]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of platelet activation [GO:0010572]; regulation of cellular extravasation [GO:0002691]; regulation of integrin activation [GO:0033623]; response to lipopolysaccharide [GO:0032496]; response to organic cyclic compound [GO:0014070]	DISEASE: Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269|PubMed:14681304}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	NA	2466574; 16710414; 7684381; 7585949; 7585950; 7559387; 11237770; 15769472; 16263699; 18606703; 8901515; 7505680; 11081633; 9668170; 10391209; 14681304
1	171303836	nonsynonymous	G	A	0.545454545454545	0	FMO4	TRUE	P31512	reviewed	Dimethylaniline monooxygenase [N-oxide-forming] 4 (EC 1.14.13.8) (Dimethylaniline oxidase 4) (Hepatic flavin-containing monooxygenase 4) (FMO 4)	FMO4 FMO2	5 out of 5	TISSUE SPECIFICITY: Liver.	drug catabolic process [GO:0042737]; drug metabolic process [GO:0017144]	NA	NA	1417778; 16710414; 15489334; 24275569; 12527699
1	171605387	nonsynonymous	T	C	0.612903225806452	0.3	MYOC	TRUE	Q99972	reviewed	Myocilin (Myocilin 55 kDa subunit) (Trabecular meshwork-induced glucocorticoid response protein) [Cleaved into: Myocilin, N-terminal fragment (Myocilin 20 kDa N-terminal fragment); Myocilin, C-terminal fragment (Myocilin 35 kDa N-terminal fragment)]	MYOC GLC1A TIGR	5 out of 5	TISSUE SPECIFICITY: Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and at to a lesser extend in iris and ciliary body. {ECO:0000269|PubMed:11431441, ECO:0000269|PubMed:12697062, ECO:0000269|PubMed:15795224}.	bone development [GO:0060348]; clustering of voltage-gated sodium channels [GO:0045162]; ERBB2-ERBB3 signaling pathway [GO:0038133]; myelination in peripheral nervous system [GO:0022011]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of Rho protein signal transduction [GO:0035024]; negative regulation of stress fiber assembly [GO:0051497]; neuron projection development [GO:0031175]; non-canonical Wnt signaling pathway via JNK cascade [GO:0038031]; osteoblast differentiation [GO:0001649]; positive regulation of cell migration [GO:0030335]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of mitochondrial depolarization [GO:0051901]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of MAPK cascade [GO:0043408]; skeletal muscle hypertrophy [GO:0014734]	DISEASE: Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. {ECO:0000269|PubMed:10196380, ECO:0000269|PubMed:10330365, ECO:0000269|PubMed:10340788, ECO:0000269|PubMed:10644174, ECO:0000269|PubMed:10798654, ECO:0000269|PubMed:10819638, ECO:0000269|PubMed:10873982, ECO:0000269|PubMed:10916185, ECO:0000269|PubMed:10980537, ECO:0000269|PubMed:11004290, ECO:0000269|PubMed:11774072, ECO:0000269|PubMed:12189160, ECO:0000269|PubMed:12356829, ECO:0000269|PubMed:12362081, ECO:0000269|PubMed:12442283, ECO:0000269|PubMed:12860809, ECO:0000269|PubMed:12872267, ECO:0000269|PubMed:15025728, ECO:0000269|PubMed:15255110, ECO:0000269|PubMed:15534471, ECO:0000269|PubMed:16401791, ECO:0000269|PubMed:17210859, ECO:0000269|PubMed:17499207, ECO:0000269|PubMed:9005853, ECO:0000269|PubMed:9328473, ECO:0000269|PubMed:9345106, ECO:0000269|PubMed:9361308, ECO:0000269|PubMed:9490287, ECO:0000269|PubMed:9510647, ECO:0000269|PubMed:9521427, ECO:0000269|PubMed:9535666, ECO:0000269|PubMed:9697688, ECO:0000269|PubMed:9792882, ECO:0000269|PubMed:9863594}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. {ECO:0000269|PubMed:15733270}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). {ECO:0000269|PubMed:15733270}.	98976;98977;	9280311; 9169133; 9328473; 9005853; 9446806; 9548973; 14702039; 16710414; 15489334; 9497363; 19287508; 15795224; 11053284; 11431441; 12019210; 11773026; 11773029; 11923248; 12615070; 12697062; 15944158; 17650508; 17516541; 17984096; 18855004; 19188438; 19959812; 21656515; 23629661; 23897819; 25524706; 9345106; 9510647; 9361308; 9792882; 9490287; 9521427; 9863594; 9697688; 9535666; 10330365; 10196380; 10340788; 11004290; 10873982; 10644174; 10980537; 10798654; 10819638; 10916185; 11774072; 12189160; 12442283; 12356829; 12362081; 12860809; 12872267; 15025728; 15534471; 15255110; 15733270; 16401791; 17499207; 17210859
1	180053158	nonsynonymous	A	C	0.705882352941177	1	CEP350	TRUE	Q5VT06	reviewed	Centrosome-associated protein 350 (Cep350) (Centrosome-associated protein of 350 kDa)	CEP350 CAP350 KIAA0480 GM133	5 out of 5	TISSUE SPECIFICITY: Detected in heart, brain, skeletal muscle, testis, placenta, lung, liver, kidney and pancreas. {ECO:0000269|PubMed:11891061, ECO:0000269|PubMed:15615782}.	microtubule anchoring [GO:0034453]	NA	NA	16710414; 11891061; 14654843; 15615782; 17081983; 16314388; 17878239; 18412956; 19052644; 18669648; 19413330; 20068231; 21269460; 23186163; 24275569; 25134987
1	186946869	nonsynonymous	A	G	0.647058823529412	1	PLA2G4A	TRUE	P47712	reviewed	Cytosolic phospholipase A2 (cPLA2) (Phospholipase A2 group IVA) [Includes: Phospholipase A2 (EC 3.1.1.4) (Phosphatidylcholine 2-acylhydrolase); Lysophospholipase (EC 3.1.1.5)]	PLA2G4A CPLA2 PLA2G4	5 out of 5	TISSUE SPECIFICITY: Expressed in various tissues such as macrophages, platelets, neutrophils, fibroblasts and lung endothelium.	aging [GO:0007568]; arachidonic acid metabolic process [GO:0019369]; arachidonic acid secretion [GO:0050482]; cardiolipin acyl-chain remodeling [GO:0035965]; cellular response to antibiotic [GO:0071236]; decidualization [GO:0046697]; icosanoid biosynthetic process [GO:0046456]; icosanoid metabolic process [GO:0006690]; luteolysis [GO:0001554]; ovulation from ovarian follicle [GO:0001542]; phosphatidic acid biosynthetic process [GO:0006654]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; phosphatidylethanolamine acyl-chain remodeling [GO:0036152]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; phosphatidylinositol acyl-chain remodeling [GO:0036149]; phosphatidylserine acyl-chain remodeling [GO:0036150]; phospholipid catabolic process [GO:0009395]; phospholipid metabolic process [GO:0006644]; platelet activating factor biosynthetic process [GO:0006663]; positive regulation of apoptotic process [GO:0043065]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fever generation [GO:0031622]; positive regulation of prostaglandin biosynthetic process [GO:0031394]; positive regulation of vesicle fusion [GO:0031340]; response to calcium ion [GO:0051592]; response to glucocorticoid [GO:0051384]; response to heat [GO:0009408]; response to hydrogen peroxide [GO:0042542]; response to lipopolysaccharide [GO:0032496]; response to lithium ion [GO:0010226]; response to methylmercury [GO:0051597]; response to organonitrogen compound [GO:0010243]; response to vitamin D [GO:0033280]; surfactant homeostasis [GO:0043129]	DISEASE: Note=PLA2G4A mutations resulting in phospholipase A2 deficiency have been found in a patient affected by recurrent episodes of multiple complicated ulcers of the small intestine, not due to cyclooxygenase inhibitors use. Disease features also include platelet dysfunction, and globally decreased eicosanoid synthesis (PubMed:18451993). {ECO:0000269|PubMed:18451993}.	NA	1904318; 1869522; 16710414; 15489334; 8381049; 8083230; 8619991; 8702602; 9468497; 11416127; 17081983; 16964243; 18451993; 18088087; 18669648; 20068231; 21269460; 21406692; 23186163; 9430701; 9665851; 10319815; 16959974
1	200842341	nonsynonymous	T	C	0.666666666666667	0.1	GPR25	TRUE	O00155	reviewed	Probable G-protein coupled receptor 25	GPR25	4 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	9020062; 15489334
1	201331068	nonsynonymous	A	G	0.346153846153846	1	TNNT2	TRUE	P45379	reviewed	Troponin T, cardiac muscle (TnTc) (Cardiac muscle troponin T) (cTnT)	TNNT2	5 out of 5	TISSUE SPECIFICITY: Heart. The fetal heart shows a greater expression in the atrium than in the ventricle, while the adult heart shows a greater expression in the ventricle than in the atrium. Isoform 6 predominates in normal adult heart. Isoforms 1, 7 and 8 are expressed in fetal heart. Isoform 7 is also expressed in failing adult heart.	actin crosslink formation [GO:0051764]; cardiac muscle contraction [GO:0060048]; muscle filament sliding [GO:0030049]; negative regulation of ATPase activity [GO:0032780]; positive regulation of ATPase activity [GO:0032781]; protein heterooligomerization [GO:0051291]; regulation of heart contraction [GO:0008016]; regulation of muscle filament sliding speed [GO:0032972]; response to calcium ion [GO:0051592]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]	DISEASE: Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10525521, ECO:0000269|PubMed:11034944, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:21846512, ECO:0000269|PubMed:7898523, ECO:0000269|PubMed:8205619, ECO:0000269|PubMed:8989109, ECO:0000269|PubMed:9060892, ECO:0000269|PubMed:9140840, ECO:0000269|PubMed:9482583, ECO:0000269|Ref.19}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11106718, ECO:0000269|PubMed:11684629, ECO:0000269|PubMed:15542288, ECO:0000269|PubMed:15769782, ECO:0000269|PubMed:21846512}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, familial restrictive 3 (RCM3) [MIM:612422]: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269|PubMed:16651346}. Note=The disease is caused by mutations affecting the gene represented in this entry.	154;155;75249;54260;	8344420; 8088824; 8576938; 7534662; 7895342; 9482583; 14702039; 16710414; 15489334; 9689598; 7498159; 12840750; 8205619; 7898523; 8989109; 9060892; 10525521; 9140840; 11034944; 11106718; 11684629; 12707239; 12974739; 15542288; 15563892; 15769782; 16199542; 16651346; 21846512
1	204924020	nonsynonymous	C	T	0.333333333333333	1	NFASC	TRUE	O94856	reviewed	Neurofascin	NFASC KIAA0756	5 out of 5	NA	axon guidance [GO:0007411]; clustering of voltage-gated sodium channels [GO:0045162]; heterotypic cell-cell adhesion [GO:0034113]; myelination [GO:0042552]; paranodal junction assembly [GO:0030913]; peripheral nervous system development [GO:0007422]; protein localization to juxtaparanode region of axon [GO:0071205]; protein localization to paranode region of axon [GO:0002175]; protein targeting to plasma membrane [GO:0072661]; synapse organization [GO:0050808]; transmission of nerve impulse [GO:0019226]	NA	NA	9872452; 12168954; 14702039; 16710414; 15489334; 15491607; 17974005; 18669648; 23897819; 21047790
1	204944441	nonsynonymous	G	A	0.391304347826087	0	NFASC	TRUE	O94856	reviewed	Neurofascin	NFASC KIAA0756	5 out of 5	NA	axon guidance [GO:0007411]; clustering of voltage-gated sodium channels [GO:0045162]; heterotypic cell-cell adhesion [GO:0034113]; myelination [GO:0042552]; paranodal junction assembly [GO:0030913]; peripheral nervous system development [GO:0007422]; protein localization to juxtaparanode region of axon [GO:0071205]; protein localization to paranode region of axon [GO:0002175]; protein targeting to plasma membrane [GO:0072661]; synapse organization [GO:0050808]; transmission of nerve impulse [GO:0019226]	NA	NA	9872452; 12168954; 14702039; 16710414; 15489334; 15491607; 17974005; 18669648; 23897819; 21047790
1	204944536	nonsynonymous	A	G	0.473684210526316	0.3	NFASC	TRUE	O94856	reviewed	Neurofascin	NFASC KIAA0756	5 out of 5	NA	axon guidance [GO:0007411]; clustering of voltage-gated sodium channels [GO:0045162]; heterotypic cell-cell adhesion [GO:0034113]; myelination [GO:0042552]; paranodal junction assembly [GO:0030913]; peripheral nervous system development [GO:0007422]; protein localization to juxtaparanode region of axon [GO:0071205]; protein localization to paranode region of axon [GO:0002175]; protein targeting to plasma membrane [GO:0072661]; synapse organization [GO:0050808]; transmission of nerve impulse [GO:0019226]	NA	NA	9872452; 12168954; 14702039; 16710414; 15489334; 15491607; 17974005; 18669648; 23897819; 21047790
1	210857261	nonsynonymous	C	T	0.551724137931034	0	KCNH1	TRUE	O95259	reviewed	Potassium voltage-gated channel subfamily H member 1 (Ether-a-go-go potassium channel 1) (EAG channel 1) (h-eag) (hEAG1) (Voltage-gated potassium channel subunit Kv10.1)	KCNH1 EAG EAG1	5 out of 5	TISSUE SPECIFICITY: Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues. Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in normal epithelial cells.	cellular response to calcium ion [GO:0071277]; myoblast fusion [GO:0007520]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; regulation of cell proliferation [GO:0042127]; regulation of membrane potential [GO:0042391]; startle response [GO:0001964]	DISEASE: Temple-Baraitser syndrome (TMBTS) [MIM:611816]: A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. {ECO:0000269|PubMed:25420144}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500]: A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears. {ECO:0000269|PubMed:25915598}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	9738473; 10523298; 16710414; 15489334; 10880439; 11943152; 21559285; 22841712; 23144454; 22732247; 23881642; 24587194; 25420144; 25915598
1	215844373	nonsynonymous	C	T	0.5	1	USH2A	TRUE	O75445	reviewed	Usherin (Usher syndrome type IIa protein) (Usher syndrome type-2A protein)	USH2A	5 out of 5	TISSUE SPECIFICITY: Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea. {ECO:0000269|PubMed:11788194, ECO:0000269|PubMed:12433396, ECO:0000269|PubMed:15015129, ECO:0000269|PubMed:9624053}.	establishment of protein localization [GO:0045184]; hair cell differentiation [GO:0035315]; inner ear receptor cell differentiation [GO:0060113]; maintenance of organ identity [GO:0048496]; photoreceptor cell maintenance [GO:0045494]; response to stimulus [GO:0050896]; sensory perception of light stimulus [GO:0050953]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]	DISEASE: Usher syndrome 2A (USH2A) [MIM:276901]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269|PubMed:10729113, ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:10909849, ECO:0000269|PubMed:11311042, ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:12525556, ECO:0000269|PubMed:14970843, ECO:0000269|PubMed:15015129, ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:15241801, ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:17085681, ECO:0000269|PubMed:17405132, ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:18452394, ECO:0000269|PubMed:19683999, ECO:0000269|PubMed:19737284, ECO:0000269|PubMed:20309401, ECO:0000269|PubMed:20440071, ECO:0000269|PubMed:20507924, ECO:0000269|PubMed:21593743, ECO:0000269|PubMed:21686329, ECO:0000269|PubMed:22004887, ECO:0000269|PubMed:23737954, ECO:0000269|PubMed:26377068, ECO:0000269|PubMed:9624053}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 39 (RP39) [MIM:613809]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:10775529, ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:12427073, ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:20507924, ECO:0000269|PubMed:21686329, ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:24227914}. Note=The disease is caused by mutations affecting the gene represented in this entry.	791;231178;	9624053; 10729113; 15015129; 16710414; 11788194; 12433396; 14676276; 16114888; 16301217; 16301216; 16434480; 12786748; 18826961; 20440071; 10775529; 10909849; 10738000; 11311042; 12427073; 12112664; 12525556; 15025721; 14970843; 15325563; 15241801; 16098008; 17085681; 17296898; 17405132; 18452394; 18273898; 19737284; 19683999; 20507924; 20309401; 21835308; 21593743; 21686329; 21248752; 22004887; 22334370; 24227914; 23737954; 26377068
1	226570767	nonsynonymous	G	A	0.384615384615385	1	PARP1	TRUE	P09874	reviewed	Poly [ADP-ribose] polymerase 1 (PARP-1) (EC 2.4.2.30) (ADP-ribosyltransferase diphtheria toxin-like 1) (ARTD1) (NAD(+) ADP-ribosyltransferase 1) (ADPRT 1) (Poly[ADP-ribose] synthase 1)	PARP1 ADPRT PPOL	5 out of 5	NA	cellular response to DNA damage stimulus [GO:0006974]; cellular response to insulin stimulus [GO:0032869]; cellular response to oxidative stress [GO:0034599]; DNA damage response, detection of DNA damage [GO:0042769]; DNA ligation involved in DNA repair [GO:0051103]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; global genome nucleotide-excision repair [GO:0070911]; lagging strand elongation [GO:0006273]; macrophage differentiation [GO:0030225]; mitochondrial DNA metabolic process [GO:0032042]; mitochondrial DNA repair [GO:0043504]; mitochondrion organization [GO:0007005]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, DNA duplex unwinding [GO:0000717]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 3'-to lesion [GO:0006295]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of SMAD protein import into nucleus [GO:0060391]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; positive regulation of transcription regulatory region DNA binding [GO:2000679]; protein ADP-ribosylation [GO:0006471]; protein autoprocessing [GO:0016540]; protein modification process [GO:0036211]; protein poly-ADP-ribosylation [GO:0070212]; protein sumoylation [GO:0016925]; regulation of cellular protein localization [GO:1903827]; signal transduction involved in regulation of gene expression [GO:0023019]; transcription from RNA polymerase II promoter [GO:0006366]; transforming growth factor beta receptor signaling pathway [GO:0007179]	NA	NA	3120710; 2824474; 2891139; 2513174; 16710414; 15489334; 2125269; 2108670; 17177976; 3121332; 3113420; 2109322; 2123876; 2121735; 1505517; 9315851; 9518481; 10467406; 15044383; 16904257; 17396150; 17525332; 18172500; 18669648; 19344625; 19779455; 19690332; 19661379; 19608861; 20068231; 20106667; 21269460; 21266351; 21577210; 21799911; 21406692; 22863007; 22002106; 22814378; 23186163; 23230272; 24275569; 25218447; 25114211; 25772364; 25755297; 16959974
1	228559967	nonsynonymous	C	T	0.454545454545455	0	OBSCN	TRUE	Q5VST9	reviewed	Obscurin (EC 2.7.11.1) (Obscurin-RhoGEF) (Obscurin-myosin light chain kinase) (Obscurin-MLCK)	OBSCN KIAA1556 KIAA1639	5 out of 5	NA	mitophagy in response to mitochondrial depolarization [GO:0098779]; multicellular organism development [GO:0007275]; positive regulation of apoptotic process [GO:0043065]; protein localization to M-band [GO:0036309]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; sarcomere organization [GO:0045214]	DISEASE: Note=A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1. {ECO:0000269|PubMed:12618763}.	NA	11448995; 16710414; 16625316; 10997877; 11717165; 11814696; 12527750; 12618763; 16205939; 23186163; 16959974; 17344846; 25173926
1	229667404	nonsynonymous	C	G	0.526315789473684	1	ABCB10	TRUE	Q9NRK6	reviewed	ATP-binding cassette sub-family B member 10, mitochondrial (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2)	ABCB10	5 out of 5	TISSUE SPECIFICITY: Ubiquitous. Highly expressed in bone marrow, expressed at intermediate to high levels in skeletal muscle, small intestine, thyroid, heart, brain, placenta, liver, pancreas, prostate, testis, ovary, leukocyte, stomach, spinal cord, lymph node, trachea and adrenal gland, and low levels are found in lung, kidney, spleen, thymus and colon.	transmembrane transport [GO:0055085]; transport [GO:0006810]	NA	NA	10922475; 16710414; 15489334; 7766993; 19608861; 21269460; 24275569; 25944712; 23716676; 11829140; 16959974
1	229787030	nonsynonymous	G	A	0.346153846153846	1	URB2	TRUE	Q14146	reviewed	Unhealthy ribosome biogenesis protein 2 homolog	URB2 KIAA0133	2 out of 5	NA	NA	NA	NA	8590280; 16710414; 15489334; 15635413
1	245850513	nonsynonymous	C	G	0.7	0	KIF26B	TRUE	Q2KJY2	reviewed	Kinesin-like protein KIF26B	KIF26B	4 out of 5	NA	axon guidance [GO:0007411]; cytoskeleton-dependent intracellular transport [GO:0030705]; establishment of cell polarity [GO:0030010]; positive regulation of cell-cell adhesion [GO:0022409]; protein localization [GO:0008104]; ureteric bud invasion [GO:0072092]	NA	NA	14702039; 15489334
1	248154347	nonsynonymous	C	T	0.583333333333333	0	OR2L13	FALSE	Q8N349	reviewed	Olfactory receptor 2L13 (Olfactory receptor 2L14)	OR2L13 OR2L14	3 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]	NA	NA	16710414; 15489334
1	248154347	nonsynonymous	C	T	0.583333333333333	0	OR2L1P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	248458604	nonsynonymous	C	T	0.526315789473684	0	OR2T12	TRUE	Q8NG77	reviewed	Olfactory receptor 2T12 (Olfactory receptor OR1-57)	OR2T12	4 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]	NA	NA	16710414; 14983052
2	21225500	nonsynonymous	A	G	0.5625	0	APOB	TRUE	P04114	reviewed	Apolipoprotein B-100 (Apo B-100) [Cleaved into: Apolipoprotein B-48 (Apo B-48)]	APOB	5 out of 5	NA	artery morphogenesis [GO:0048844]; cellular protein catabolic process [GO:0044257]; cellular response to prostaglandin stimulus [GO:0071379]; cellular response to tumor necrosis factor [GO:0071356]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; fertilization [GO:0009566]; in utero embryonic development [GO:0001701]; leukocyte migration [GO:0050900]; lipoprotein biosynthetic process [GO:0042158]; lipoprotein catabolic process [GO:0042159]; lipoprotein metabolic process [GO:0042157]; lipoprotein transport [GO:0042953]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle remodeling [GO:0034374]; nervous system development [GO:0007399]; positive regulation of cholesterol storage [GO:0010886]; positive regulation of gene expression [GO:0010628]; positive regulation of lipid storage [GO:0010884]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; post-embryonic development [GO:0009791]; receptor-mediated endocytosis [GO:0006898]; regulation of cholesterol biosynthetic process [GO:0045540]; response to carbohydrate [GO:0009743]; response to lipopolysaccharide [GO:0032496]; response to selenium ion [GO:0010269]; response to virus [GO:0009615]; retinoid metabolic process [GO:0001523]; spermatogenesis [GO:0007283]; sperm motility [GO:0030317]; triglyceride catabolic process [GO:0019433]; triglyceride mobilization [GO:0006642]; very-low-density lipoprotein particle assembly [GO:0034379]	DISEASE: Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. {ECO:0000269|PubMed:12551903, ECO:0000269|PubMed:21981844}. Note=The disease is caused by mutations affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844). {ECO:0000269|PubMed:21981844}.; DISEASE: Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. {ECO:0000269|PubMed:21382890, ECO:0000269|PubMed:2563166, ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.	426;406;391665;	3763409; 3652907; 3759943; 3464946; 3030729; 15815621; 3461454; 3513177; 2115173; 3001697; 3860836; 6373369; 2567736; 2883086; 3676265; 3841204; 3621347; 2450346; 3426612; 2445342; 3903660; 2994225; 2932736; 3841481; 3024665; 3659919; 3773997; 3095664; 3087360; 10679026; 14760718; 16335952; 16548883; 19159218; 19608861; 20686565; 21269460; 21981844; 22580899; 24275569; 26091039; 26224785; 1979313; 2563166; 2216805; 7883971; 8889592; 9259199; 9490296; 12551903; 14732481; 16959974; 21382890; 22028381; 22095935
2	26533898	nonsynonymous	C	T	0.434782608695652	0	ADGRF3	TRUE	Q8IZF5	reviewed	Adhesion G-protein coupled receptor F3 (G-protein coupled receptor 113) (G-protein coupled receptor PGR23)	ADGRF3 GPR113 PGR23 UNQ9196/PRO34000	4 out of 5	NA	cell surface receptor signaling pathway [GO:0007166]; G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	12435584; 12975309; 14702039; 15815621; 12044878; 12679517; 25713288
2	27861811	nonsynonymous	A	C	0.565217391304348	1	GPN1	TRUE	Q9HCN4	reviewed	GPN-loop GTPase 1 (EC 3.6.5.-) (MBD2-interacting protein) (MBDin) (RNAPII-associated protein 4) (XPA-binding protein 1)	GPN1 MBDIN RPAP4 XAB1 HUSSY-23	5 out of 5	TISSUE SPECIFICITY: Expressed ubiquitously.	NA	NA	NA	11058119; 14702039; 15815621; 15489334; 11124703; 17643375; 18220336; 18691976; 18669648; 19413330; 20855544; 20864038; 20068231; 21269460; 21844196; 21768307; 21406692; 22223895; 22814378; 23186163; 24275569
2	28824803	nonsynonymous	G	A	0.5	0	PLB1	TRUE	Q6P1J6	reviewed	Phospholipase B1, membrane-associated (Phospholipase B) (hPLB) (Phospholipase B/lipase) (PLB/LIP) [Includes: Phospholipase A2 (EC 3.1.1.4); Lysophospholipase (EC 3.1.1.5)]	PLB1 PLB	5 out of 5	TISSUE SPECIFICITY: Expressed in the epidermis (at protein level). {ECO:0000269|PubMed:12150957}.	lipid catabolic process [GO:0016042]; phosphatidylcholine acyl-chain remodeling [GO:0036151]; positive regulation of acrosome reaction [GO:2000344]; retinoid metabolic process [GO:0001523]	NA	NA	15815621; 15489334; 14702039; 12150957
2	29455199	nonsynonymous	A	T	0.583333333333333	1	ALK	TRUE	Q9UM73	reviewed	ALK tyrosine kinase receptor (EC 2.7.10.1) (Anaplastic lymphoma kinase) (CD antigen CD246)	ALK	5 out of 5	TISSUE SPECIFICITY: Expressed in brain and CNS. Also expressed in the small intestine and testis, but not in normal lymphoid cells. {ECO:0000269|PubMed:9174053}.	activation of MAPK activity [GO:0000187]; cell proliferation [GO:0008283]; neuron development [GO:0048666]; phosphorylation [GO:0016310]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; protein autophosphorylation [GO:0046777]; regulation of apoptotic process [GO:0042981]; signal transduction [GO:0007165]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]	DISEASE: Note=A chromosomal aberration involving ALK is found in a form of non-Hodgkin lymphoma. Translocation t(2;5)(p23;q35) with NPM1. The resulting chimeric NPM1-ALK protein homodimerize and the kinase becomes constitutively activated. The constitutively active fusion proteins are responsible for 5-10% of non-Hodgkin lymphomas.; DISEASE: Note=A chromosomal aberration involving ALK is associated with inflammatory myofibroblastic tumors (IMTs). Translocation t(2;11)(p23;p15) with CARS; translocation t(2;4)(p23;q21) with SEC31A.; DISEASE: Note=A chromosomal aberration involving ALK is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALO17.; DISEASE: Neuroblastoma 3 (NBLST3) [MIM:613014]: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. {ECO:0000269|PubMed:18724359, ECO:0000269|PubMed:18923523, ECO:0000269|PubMed:18923525}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Note=The ALK signaling pathway plays an important role in glioblastoma, the most common malignant brain tumor of adults and one of the most lethal cancers. It regulates both glioblastoma migration and growth.; DISEASE: Note=A chromosomal aberration involving ALK is found in one subject with colorectal cancer. Translocation t(2;2)(p23.1;p23.3). A 5 million base pair tandem duplication generates an in-frame WDCP-ALK gene fusion. {ECO:0000269|PubMed:22327622}.	300895;364043;178342;635;357191;	9174053; 9053841; 15815621; 8122112; 11387242; 11121404; 11278720; 12112524; 11809760; 12107166; 12122009; 15226403; 15938644; 15908427; 16317043; 15592455; 16161041; 17274988; 17681947; 16878150; 19459784; 22327622; 20632993; 20695522; 20454865; 21575866; 17344846; 18724359; 18923523; 18923525; 21242967
2	44223023	nonsynonymous	G	C	0.615384615384615	0.8	LRPPRC	TRUE	P42704	reviewed	Leucine-rich PPR motif-containing protein, mitochondrial (130 kDa leucine-rich protein) (LRP 130) (GP130)	LRPPRC LRP130	5 out of 5	TISSUE SPECIFICITY: Expressed ubiquitously. Expression is highest in heart, skeletal muscle, kidney and liver, intermediate in brain, non-mucosal colon, spleen and placenta, and lowest in small intestine, thymus, lung and peripheral blood leukocytes. {ECO:0000269|PubMed:11827465, ECO:0000269|PubMed:15139850}.	mitochondrion transport along microtubule [GO:0047497]; mRNA transport [GO:0051028]; negative regulation of mitochondrial RNA catabolic process [GO:0000961]; regulation of mitochondrial translation [GO:0070129]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	DISEASE: Leigh syndrome French-Canadian type (LSFC) [MIM:220111]: Severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions that is commonly associated with systemic cytochrome c oxidase (COX) deficiency. In the Saguenay-Lac Saint Jean region of Quebec province in Canada, a biochemically distinct form of Leigh syndrome with COX deficiency has been described. Patients have been observed to have a developmental delay, hypotonia, mild facial dysmorphism, chronic well-compensated metabolic acidosis, and high mortality due to episodes of severe acidosis and coma. Enzyme activity was close to normal in kidney and heart, 50% of normal in fibroblasts and skeletal muscle, and nearly absent in brain and liver. LSFC patients show reduced (<30%) levels of LRPPRC in both fibroblast and liver mitochondria and a specifically reduced translation of COX subunits MT-CO1/COXI and MT-CO3 (COXIII). {ECO:0000269|PubMed:12529507, ECO:0000269|PubMed:26510951}. Note=The disease is caused by mutations affecting the gene represented in this entry.	70472;	15139850; 14702039; 15815621; 15489334; 8012652; 11585913; 11827465; 12832482; 15081402; 15272088; 15907802; 17050673; 19608861; 21269460; 23186163; 24275569; 25944712; 12529507; 26510951
2	73676745	nonsynonymous	A	G	0.3125	0	ALMS1	TRUE	Q8TCU4	reviewed	Alstrom syndrome protein 1	ALMS1 KIAA0328	5 out of 5	TISSUE SPECIFICITY: Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level). {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}.	endosomal transport [GO:0016197]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of stress fiber assembly [GO:0051492]	DISEASE: Alstrom syndrome (ALMS) [MIM:203800]: A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome. {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}. Note=The disease is caused by mutations affecting the gene represented in this entry.	64;	11941370; 15815621; 9205841; 12168954; 15489334; 11941369; 14654843; 15855349; 17954613; 18669648; 20844083; 20068231; 23186163; 24275569
2	73928078	nonsynonymous	C	A	0.444444444444444	1	NAT8B	TRUE	Q9UHF3	reviewed	Putative N-acetyltransferase 8B (EC 2.3.1.-) (Acetyltransferase 1) (ATase1) (Camello-like protein 2)	NAT8B CML2	5 out of 5	NA	beta-amyloid metabolic process [GO:0050435]; cellular protein metabolic process [GO:0044267]; gastrulation with mouth forming second [GO:0001702]; negative regulation of apoptotic process [GO:0043066]; peptidyl-lysine N6-acetylation [GO:0018003]; positive regulation of gene expression [GO:0010628]	NA	NA	11397015; 16395595; 19011241; 24556617
2	88409984	nonsynonymous	G	A	0.285714285714286	1	SMYD1	TRUE	Q8NB12	reviewed	Histone-lysine N-methyltransferase SMYD1 (EC 2.1.1.43) (SET and MYND domain-containing protein 1)	SMYD1	5 out of 5	TISSUE SPECIFICITY: Expression seems mostly restricted to heart and skeletal muscle. {ECO:0000269|PubMed:19783823}.	chromatin remodeling [GO:0006338]; heart development [GO:0007507]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of myotube differentiation [GO:0010831]; skeletal muscle cell differentiation [GO:0035914]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 17974005; 15815621; 15489334; 19783823
2	113251880	nonsynonymous	G	A	0.36	1	TTL	TRUE	Q8NG68	reviewed	Tubulin--tyrosine ligase (TTL) (EC 6.3.2.25)	TTL	3 out of 5	NA	cellular protein modification process [GO:0006464]; microtubule cytoskeleton organization [GO:0000226]; regulation of axon extension [GO:0030516]	NA	NA	15815621; 15489334; 17974005; 21269460; 22814378
2	131220831	nonsynonymous	A	G	1	1	POTEI	TRUE	P0CG38	reviewed	POTE ankyrin domain family member I	POTEI	3 out of 5	NA	retina homeostasis [GO:0001895]	NA	NA	15815621
2	131595261	nonsynonymous	C	G	0.625	0	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	170387940	nonsynonymous	G	A	0.342857142857143	0.7	FASTKD1	TRUE	Q53R41	reviewed	FAST kinase domain-containing protein 1, mitochondrial	FASTKD1 KIAA1800	4 out of 5	TISSUE SPECIFICITY: Expression detected in spleen, thymus, testis, ovary, colon, heart, smooth muscle, kidney, brain, lung, liver and white adipose tissue with highest expression in heart. {ECO:0000269|PubMed:20869947}.	cellular respiration [GO:0045333]	NA	NA	14702039; 15815621; 15489334; 11347906; 19608861; 20869947
2	170440899	frameshift	GAG	GAAG	0.521739130434783	1	PPIG	TRUE	Q13427	reviewed	Peptidyl-prolyl cis-trans isomerase G (PPIase G) (Peptidyl-prolyl isomerase G) (EC 5.2.1.8) (CASP10) (Clk-associating RS-cyclophilin) (CARS-Cyp) (CARS-cyclophilin) (SR-cyclophilin) (SR-cyp) (SRcyp) (Cyclophilin G) (Rotamase G)	PPIG	5 out of 5	TISSUE SPECIFICITY: Ubiquitous.	protein folding [GO:0006457]; RNA splicing [GO:0008380]	NA	NA	8973360; 9153302; 15815621; 15489334; 15358154; 17081983; 17525332; 18669648; 19690332; 20068231; 21406692; 23186163; 24275569
2	170558097	nonsynonymous	A	G	0.571428571428571	1	PHOSPHO2	TRUE	Q8TCD6	reviewed	Pyridoxal phosphate phosphatase PHOSPHO2 (EC 3.1.3.74)	PHOSPHO2	3 out of 5	NA	NA	NA	NA	14702039; 15815621; 15489334; 16054448
2	170558097	nonsynonymous	A	G	0.571428571428571	1	PHOSPHO2-KLHL23	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
2	178740622	nonsynonymous	A	C	0.413793103448276	1	PDE11A	TRUE	Q9HCR9	reviewed	Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (EC 3.1.4.35) (EC 3.1.4.53) (cAMP and cGMP phosphodiesterase 11A)	PDE11A	5 out of 5	TISSUE SPECIFICITY: Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in testis. Isoform 4 is expressed in adrenal cortex. {ECO:0000269|PubMed:10725373, ECO:0000269|PubMed:11121118, ECO:0000269|PubMed:15800651, ECO:0000269|PubMed:16079899, ECO:0000269|PubMed:16767104}.	cAMP catabolic process [GO:0006198]; cGMP catabolic process [GO:0046069]; signal transduction [GO:0007165]	DISEASE: Primary pigmented nodular adrenocortical disease 2 (PPNAD2) [MIM:610475]: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269|PubMed:16767104}. Note=The disease is caused by mutations affecting the gene represented in this entry.	189439;	10906126; 10725373; 11050148; 11121118; 15815621; 15489334; 15800651; 16079899; 16330539; 16767104; 19690332
2	215595164	nonsynonymous	G	A	0.391304347826087	0.9	BARD1	TRUE	Q99728	reviewed	BRCA1-associated RING domain protein 1 (BARD-1) (EC 6.3.2.-)	BARD1	5 out of 5	NA	cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; DNA double-strand break processing [GO:0000729]; DNA replication [GO:0006260]; DNA synthesis involved in DNA repair [GO:0000731]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of apoptotic process [GO:0043066]; negative regulation of mRNA 3'-end processing [GO:0031441]; negative regulation of protein export from nucleus [GO:0046826]; positive regulation of apoptotic process [GO:0043065]; positive regulation of protein catabolic process [GO:0045732]; protein K6-linked ubiquitination [GO:0085020]; protein ubiquitination [GO:0016567]; regulation of phosphorylation [GO:0042325]; regulation of signal transduction by p53 class mediator [GO:1901796]; strand displacement [GO:0000732]; tissue homeostasis [GO:0001894]	NA	145;	8944023; 9425226; 18089818; 15815621; 15489334; 10026184; 10477523; 12890688; 14976165; 17643122; 17370265; 18669648; 19413330; 19261749; 19690332; 20351172; 23186163; 25755297; 11573085; 17550235; 18842000; 18480049
2	219505465	nonsynonymous	G	A	0.391304347826087	1	ZNF142	TRUE	P52746	reviewed	Zinc finger protein 142 (HA4654)	ZNF142 KIAA0236	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	9039502; 15815621; 7557990; 23186163; 25218447
2	220081475	nonsynonymous	C	T	0.428571428571429	0	ABCB6	TRUE	Q9NP58	reviewed	ATP-binding cassette sub-family B member 6, mitochondrial (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)	ABCB6 MTABC3 PRP UMAT	5 out of 5	TISSUE SPECIFICITY: Widely expressed. High expression is detected in the retinal epithelium. {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:22226084}.	brain development [GO:0007420]; cellular iron ion homeostasis [GO:0006879]; heme transport [GO:0015886]; porphyrin-containing compound biosynthetic process [GO:0006779]; skin development [GO:0043588]; transmembrane transport [GO:0055085]; transport [GO:0006810]	DISEASE: Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269|PubMed:22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269|PubMed:23519333, ECO:0000269|PubMed:24224009, ECO:0000269|PubMed:24498303, ECO:0000269|PubMed:25288164}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570). {ECO:0000269|PubMed:23180570}.	98938;241;194;	10837493; 11955620; 14702039; 15489334; 17006453; 17661442; 18279659; 22226084; 22246506; 23180570; 24275569; 16791740; 20823549; 16959974; 23519333; 24224009; 25288164; 24498303
2	220422686	nonsynonymous	C	T	0.333333333333333	0	OBSL1	TRUE	O75147	reviewed	Obscurin-like protein 1	OBSL1 KIAA0657	5 out of 5	TISSUE SPECIFICITY: Widely expressed, with predominant levels found in the heart. {ECO:0000269|PubMed:17289344}.	cardiac myofibril assembly [GO:0055003]; cytoskeleton organization [GO:0007010]; Golgi organization [GO:0007030]; microtubule cytoskeleton organization [GO:0000226]; positive regulation of dendrite morphogenesis [GO:0050775]; protein localization to Golgi apparatus [GO:0034067]; regulation of mitotic nuclear division [GO:0007088]	DISEASE: 3M syndrome 2 (3M2) [MIM:612921]: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. {ECO:0000269|PubMed:19481195, ECO:0000269|PubMed:23018678}. Note=The disease is caused by mutations affecting the gene represented in this entry.	2616;	17289344; 15815621; 15489334; 9734811; 12168954; 18669648; 19481195; 21737058; 21572988; 23186163; 24793695; 24793696; 23018678; 20489725; 20133654; 
2	234431981	nonsynonymous	G	T	0.344827586206897	0.2	USP40	TRUE	Q9NVE5	reviewed	Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.4.19.12) (Deubiquitinating enzyme 40) (Ubiquitin thioesterase 40) (Ubiquitin-specific-processing protease 40)	USP40	4 out of 5	TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:14715245}.	protein deubiquitination [GO:0016579]; ubiquitin-dependent protein catabolic process [GO:0006511]	NA	NA	14715245; 14702039; 15815621; 15489334; 24275569
2	234590969	nonsynonymous	ATGACCG	GGGACAA	0.4	0	UGT1A8	FALSE	Q9HAW9	reviewed	UDP-glucuronosyltransferase 1-8 (UDPGT 1-8) (UGT1*8) (UGT1-08) (UGT1.8) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-H) (UGT-1H) (UGT1H) (UDP-glucuronosyltransferase 1A8)	UGT1A8 GNT1 UGT1	5 out of 5	TISSUE SPECIFICITY: Colon specific. Isoform 1 and 2 are expressed in liver, kidney, colon and small intestine; isoform 2 but not isoform 1 is expressed in liver (PubMed:18004212). {ECO:0000269|PubMed:18004212, ECO:0000269|PubMed:9535849}.	cellular glucuronidation [GO:0052695]; coumarin metabolic process [GO:0009804]; drug metabolic process [GO:0017144]; fatty acid metabolic process [GO:0006631]; flavone metabolic process [GO:0051552]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; negative regulation of steroid metabolic process [GO:0045939]; retinoic acid metabolic process [GO:0042573]; steroid metabolic process [GO:0008202]; xenobiotic glucuronidation [GO:0052697]	NA	NA	9535849; 11434514; 12042666; 14702039; 15815621; 19159218; 18004212; 19545173; 20610558; 19204906
2	234590969	nonsynonymous	ATGACCG	GGGACAA	0.4	0	UGT1A10	FALSE	Q9HAW8	reviewed	UDP-glucuronosyltransferase 1-10 (UDPGT 1-10) (UGT1*10) (UGT1-10) (UGT1.10) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-J) (UGT-1J) (UGT1J) (UDP-glucuronosyltransferase 1A10)	UGT1A10 GNT1 UGT1	5 out of 5	TISSUE SPECIFICITY: Liver and colon. Isoform 1 and isoform 2 are expressed in colon, esophagus and small intestine; isoform 2 but not isoform 1 is expressed in liver or kidney (PubMed:18004212). {ECO:0000269|PubMed:18004212, ECO:0000269|PubMed:9271343}.	cellular glucuronidation [GO:0052695]; flavone metabolic process [GO:0051552]; flavonoid biosynthetic process [GO:0009813]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; xenobiotic glucuronidation [GO:0052697]	NA	NA	9271343; 11434514; 15815621; 15489334; 18004212; 19545173; 20610558; 15618702
2	234590969	nonsynonymous	ATGACCG	GGGACAA	0.4	0	UGT1A9	FALSE	O60656	reviewed	UDP-glucuronosyltransferase 1-9 (UDPGT 1-9) (UGT1*9) (UGT1-09) (UGT1.9) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-I) (UGT-1I) (UGT1I) (UDP-glucuronosyltransferase 1A9) (lugP4)	UGT1A9 GNT1 UGT1	5 out of 5	TISSUE SPECIFICITY: Liver. Isoform 1 and isoform 2 are expressed in liver, kidney, colon, esophagus and small intestine. {ECO:0000269|PubMed:18004212}.	cellular glucuronidation [GO:0052695]; flavone metabolic process [GO:0051552]; flavonoid glucuronidation [GO:0052696]; metabolic process [GO:0008152]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; retinoic acid metabolic process [GO:0042573]; xenobiotic glucuronidation [GO:0052697]; xenobiotic metabolic process [GO:0006805]	NA	NA	1910331; 11434514; 15815621; 15489334; 18004212; 19545173; 20610558; 19951703; 24275569; 16959974; 19204906
2	234590969	nonsynonymous	ATGACCG	GGGACAA	0.4	0	UGT1A7	TRUE	Q9HAW7	reviewed	UDP-glucuronosyltransferase 1-7 (UDPGT 1-7) (UGT1*7) (UGT1-07) (UGT1.7) (EC 2.4.1.17) (UDP-glucuronosyltransferase 1-G) (UGT-1G) (UGT1G) (UDP-glucuronosyltransferase 1A7)	UGT1A7 GNT1 UGT1	5 out of 5	TISSUE SPECIFICITY: Liver and gastric tissue. Isoform 1 and isoform 2 are expressed in esophagus. Neither isoform is expressed in liver, kidney, colon and small intestine (PubMed:18004212). {ECO:0000269|PubMed:18004212, ECO:0000269|PubMed:9271343}.	cellular glucuronidation [GO:0052695]; coumarin metabolic process [GO:0009804]; drug metabolic process [GO:0017144]; excretion [GO:0007588]; fatty acid metabolic process [GO:0006631]; flavone metabolic process [GO:0051552]; flavonoid biosynthetic process [GO:0009813]; flavonoid glucuronidation [GO:0052696]; negative regulation of cellular glucuronidation [GO:2001030]; negative regulation of fatty acid metabolic process [GO:0045922]; negative regulation of glucuronosyltransferase activity [GO:1904224]; retinoic acid metabolic process [GO:0042573]; xenobiotic glucuronidation [GO:0052697]	NA	NA	9271343; 11434514; 15815621; 18004212; 20610558; 23360619; 11037804; 19204906
2	240061400	nonsynonymous	C	T	0.5	0.4	HDAC4	TRUE	P56524	reviewed	Histone deacetylase 4 (HD4) (EC 3.5.1.98)	HDAC4 KIAA0288	5 out of 5	TISSUE SPECIFICITY: Ubiquitous.	B cell activation [GO:0042113]; B cell differentiation [GO:0030183]; cardiac muscle hypertrophy in response to stress [GO:0014898]; cellular response to mechanical stimulus [GO:0071260]; cellular response to parathyroid hormone stimulus [GO:0071374]; cellular response to tumor necrosis factor [GO:0071356]; chromatin remodeling [GO:0006338]; histone deacetylation [GO:0016575]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; inflammatory response [GO:0006954]; negative regulation of cell proliferation [GO:0008285]; negative regulation of glycolytic process [GO:0045820]; negative regulation of myotube differentiation [GO:0010832]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of sequence-specific DNA binding transcription factor activity [GO:0043433]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; nervous system development [GO:0007399]; osteoblast development [GO:0002076]; peptidyl-lysine deacetylation [GO:0034983]; positive regulation of cell proliferation [GO:0008284]; positive regulation of lamellipodium assembly [GO:0010592]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of protein sumoylation [GO:0033235]; positive regulation of reactive oxygen species biosynthetic process [GO:1903428]; positive regulation of sequence-specific DNA binding transcription factor activity [GO:0051091]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of gene expression, epigenetic [GO:0040029]; regulation of protein binding [GO:0043393]; regulation of skeletal muscle fiber development [GO:0048742]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; response to drug [GO:0042493]; response to interleukin-1 [GO:0070555]; skeletal system development [GO:0001501]; transcription, DNA-templated [GO:0006351]	DISEASE: Brachydactyly-mental retardation syndrome (BDMR) [MIM:600430]: A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism. {ECO:0000269|PubMed:20691407, ECO:0000269|PubMed:23188045, ECO:0000269|PubMed:24715439}. Note=The gene represented in this entry is involved in disease pathogenesis. HDAC4 point mutations and chromosomal microdeletions encompassing this gene have been found in BDMR patients (PubMed:20691407, PubMed:24715439, PubMed:23188045). However, HDAC4 haploinsufficiency is not fully penetrant and multiple genes may contribute to manifestation of the full phenotypic spectrum (PubMed:24715439, PubMed:23188045). {ECO:0000269|PubMed:20691407, ECO:0000269|PubMed:23188045, ECO:0000269|PubMed:24715439}.	1001;	10220385; 9179496; 15815621; 15489334; 10487761; 10523670; 10958686; 11470791; 11509672; 11463856; 12032081; 17373667; 17179159; 18669648; 19690332; 20691407; 20110259; 20068231; 21406692; 23188045; 23186163; 24413532; 24715439; 24275569; 22649097; 16959974; 24169519
2	241468605	nonsynonymous	G	T	0.454545454545455	1	ANKMY1	TRUE	Q9P2S6	reviewed	Ankyrin repeat and MYND domain-containing protein 1 (Testis-specific ankyrin-like protein 1) (Zinc finger MYND domain-containing protein 13)	ANKMY1 TSAL1 ZMYND13	3 out of 5	NA	NA	NA	NA	14702039; 15815621; 15489334; 11230166; 17974005
3	14862640	nonsynonymous	G	A	0.375	1	FGD5	TRUE	Q6ZNL6	reviewed	FYVE, RhoGEF and PH domain-containing protein 5 (Zinc finger FYVE domain-containing protein 23)	FGD5 ZFYVE23	5 out of 5	TISSUE SPECIFICITY: Expressed in endothelial cells (at protein level). {ECO:0000269|PubMed:22328776}.	actin cytoskeleton organization [GO:0030036]; cytoskeleton organization [GO:0007010]; filopodium assembly [GO:0046847]; regulation of cell shape [GO:0008360]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]	NA	NA	14702039; 16641997; 15489334; 10737800; 17974005; 22328776; 
3	16645996	nonsynonymous	G	A	0.578947368421053	0	DAZL	TRUE	Q92904	reviewed	Deleted in azoospermia-like (DAZ homolog) (DAZ-like autosomal) (Deleted in azoospermia-like 1) (SPGY-like-autosomal)	DAZL DAZH DAZL1 DAZLA SPGYLA	5 out of 5	TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:8896558, ECO:0000269|PubMed:8968755, ECO:0000269|PubMed:8968756}.	female meiosis II [GO:0007147]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; oocyte maturation [GO:0001556]; positive regulation of meiotic nuclear division [GO:0045836]; positive regulation of translational initiation [GO:0045948]; spermatogenesis [GO:0007283]	NA	NA	8896558; 8968755; 8968756; 9294855; 14702039; 17974005; 16641997; 15489334; 10857750; 11390979; 12511597; 12414900; 22021443
3	30842558	nonsynonymous	G	C	0.358974358974359	1	GADL1	TRUE	Q6ZQY3	reviewed	Acidic amino acid decarboxylase GADL1 (Aspartate 1-decarboxylase) (ADC) (HuADC) (EC 4.1.1.11) (Cysteine sulfinic acid decarboxylase) (CSADC) (HuCSADC) (EC 4.1.1.29) (Glutamate decarboxylase-like protein 1)	GADL1	5 out of 5	NA	cellular amino acid biosynthetic process [GO:0008652]	NA	NA	17974005; 16641997; 14702039; 15489334; 23038267
3	42251498	nonsynonymous	G	C	0.647058823529412	1	TRAK1	TRUE	Q9UPV9	reviewed	Trafficking kinesin-binding protein 1 (106 kDa O-GlcNAc transferase-interacting protein)	TRAK1 KIAA1042 OIP106	5 out of 5	TISSUE SPECIFICITY: High expression in spinal cord and moderate expression in all other tissues and specific brain regions examined. Expressed in all cell lines examined. {ECO:0000269|PubMed:18986759}.	endosome to lysosome transport [GO:0008333]; protein O-linked glycosylation [GO:0006493]; protein targeting [GO:0006605]; regulation of transcription from RNA polymerase II promoter [GO:0006357]	NA	NA	10470851; 17974005; 16641997; 15489334; 12435728; 15644324; 16630562; 18669648; 18986759; 18675823; 19528298; 23186163
3	47452311	nonsynonymous	G	T	0.583333333333333	0	PTPN23	TRUE	Q9H3S7	reviewed	Tyrosine-protein phosphatase non-receptor type 23 (EC 3.1.3.48) (His domain-containing protein tyrosine phosphatase) (HD-PTP) (Protein tyrosine phosphatase TD14) (PTP-TD14)	PTPN23 KIAA1471	5 out of 5	NA	cilium morphogenesis [GO:0060271]; negative regulation of epithelial cell migration [GO:0010633]; positive regulation of adherens junction organization [GO:1903393]; positive regulation of early endosome to late endosome transport [GO:2000643]; positive regulation of homophilic cell adhesion [GO:1903387]; protein transport [GO:0015031]; ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043162]	NA	NA	11095967; 14702039; 15489334; 10819331; 12168954; 17974005; 18669648; 18434552; 19690332; 20393563; 21179510; 20068231; 21269460; 21757351; 21406692; 23186163; 24275569; 21889351
3	53845236	nonsynonymous	G	A	0.739130434782609	1	CACNA1D	TRUE	Q01668	reviewed	Voltage-dependent L-type calcium channel subunit alpha-1D (Calcium channel, L type, alpha-1 polypeptide, isoform 2) (Voltage-gated calcium channel subunit alpha Cav1.3)	CACNA1D CACH3 CACN4 CACNL1A2 CCHL1A2	5 out of 5	TISSUE SPECIFICITY: Expressed in pancreatic islets and in brain, where it has been seen in cerebral cortex, hippocampus, basal ganglia, habenula and thalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in skeletal muscle. {ECO:0000269|PubMed:1335101}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway [GO:0007188]; calcium ion import [GO:0070509]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport [GO:0006816]; cardiac conduction [GO:0061337]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; membrane depolarization during SA node cell action potential [GO:0086046]; positive regulation of calcium ion transport [GO:0051928]; regulation of atrial cardiac muscle cell membrane repolarization [GO:0060372]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of insulin secretion [GO:0050796]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of potassium ion transmembrane transporter activity [GO:1901016]; sensory perception of sound [GO:0007605]	DISEASE: Sinoatrial node dysfunction and deafness (SANDD) [MIM:614896]: A disease characterized by congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia. {ECO:0000269|PubMed:21131953}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Primary aldosteronism, seizures, and neurologic abnormalities (PASNA) [MIM:615474]: A disorder characterized by hypertension, hypokalemia, and high aldosterone levels with low plasma renin activity and an elevated aldosterone/renin ratio. Other features include generalized seizures, cerebral palsy, spasticity, intellectual disability, and developmental delay. {ECO:0000269|PubMed:23913001}. Note=The disease is caused by mutations affecting the gene represented in this entry.	85142;369929;324321;	1309651; 1309948; 7557998; 18482979; 16641997; 9894156; 1335101; 21280120; 21131953; 23913001
3	56651167	nonsynonymous	A	G	0.481481481481481	0	CCDC66	TRUE	A2RUB6	reviewed	Coiled-coil domain-containing protein 66	CCDC66	3 out of 5	NA	detection of light stimulus involved in visual perception [GO:0050908]; post-embryonic retina morphogenesis in camera-type eye [GO:0060060]; retinal rod cell development [GO:0046548]	NA	NA	14702039; 16641997; 15489334; 18669648
3	97677974	nonsynonymous	G	A	0.444444444444444	1	MINA	TRUE	Q8IUF8	reviewed	Bifunctional lysine-specific demethylase and histidyl-hydroxylase MINA (EC 1.14.11.-) (60S ribosomal protein L27a histidine hydroxylase) (Histone lysine demethylase MINA) (MYC-induced nuclear antigen) (Mineral dust-induced gene protein) (Nucleolar protein 52) (Ribosomal oxygenase MINA) (ROX)	MINA MDIG MINA53 NO52	5 out of 5	TISSUE SPECIFICITY: Expressed in liver, skeletal muscle, heart, pancreas, and placenta. Not detected in brain, lung or kidney. Expressed in several lung cancer tissues, but is barely detected in the adjacent non-cancerous tissues. Also highly expressed in several esophageal squamous cell carcinoma (ESCC), and colon cancer tissues, and in various cancer cell lines. {ECO:0000269|PubMed:14695334, ECO:0000269|PubMed:15534111, ECO:0000269|PubMed:15897898, ECO:0000269|PubMed:19502796}.	negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-amino acid modification [GO:0018193]; post-translational protein modification [GO:0043687]; ribosome biogenesis [GO:0042254]; transcription, DNA-templated [GO:0006351]	NA	NA	12091391; 14742713; 15897898; 14702039; 16641997; 15489334; 17974005; 14695334; 15534111; 15819408; 17317935; 19502796; 19608861; 20068231; 21269460; 23103944
3	97868422	nonsynonymous	A	G	0.594594594594595	0	OR5H14	TRUE	A6NHG9	reviewed	Olfactory receptor 5H14	OR5H14	3 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	16641997; 15489334; 14983052
3	121252048	nonsynonymous	T	G	0.357142857142857	0	POLQ	TRUE	O75417	reviewed	DNA polymerase theta (EC 2.7.7.7) (DNA polymerase eta)	POLQ POLH	5 out of 5	TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:14576298}.	base-excision repair [GO:0006284]; cellular response to DNA damage stimulus [GO:0006974]; DNA-dependent DNA replication [GO:0006261]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; double-strand break repair via alternative nonhomologous end joining [GO:0097681]; double-strand break repair via homologous recombination [GO:0000724]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; protein homooligomerization [GO:0051260]; somatic hypermutation of immunoglobulin genes [GO:0016446]	DISEASE: Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:20624954, ECO:0000269|PubMed:20700469, ECO:0000269|PubMed:25409685}. Note=The gene represented in this entry may be involved in disease pathogenesis.	NA	10395804; 14576298; 16641997; 18503084; 19188258; 19608861; 20700469; 20624954; 21050863; 22135286; 25409685; 24648516; 24989122; 25642963; 25643323
3	124515496	nonsynonymous	C	T	0.724137931034483	0.4	ITGB5	TRUE	P18084	reviewed	Integrin beta-5	ITGB5	5 out of 5	NA	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; cell-matrix adhesion [GO:0007160]; endodermal cell differentiation [GO:0035987]; epithelial cell-cell adhesion [GO:0090136]; extracellular matrix organization [GO:0030198]; integrin-mediated signaling pathway [GO:0007229]; muscle contraction [GO:0006936]; stress fiber assembly [GO:0043149]; transforming growth factor beta receptor signaling pathway [GO:0007179]	NA	NA	2328726; 2371275; 2211615; 14702039; 15489334; 15156152; 15611078; 20615244; 23186163; 24275569
3	126730873	nonsynonymous	G	A	0.5	1	PLXNA1	TRUE	Q9UIW2	reviewed	Plexin-A1 (Semaphorin receptor NOV)	PLXNA1 NOV PLXN1	5 out of 5	TISSUE SPECIFICITY: Detected in fetal brain, lung, liver and kidney. {ECO:0000269|PubMed:8570614}.	branchiomotor neuron axon guidance [GO:0021785]; dichotomous subdivision of terminal units involved in salivary gland branching [GO:0060666]; multicellular organism development [GO:0007275]; neuron projection extension [GO:1990138]; regulation of axon extension involved in axon guidance [GO:0048841]; regulation of cell migration [GO:0030334]; regulation of smooth muscle cell migration [GO:0014910]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]	NA	NA	16641997; 8570614; 14702039; 19349973; 21269460
3	126741108	nonsynonymous	G	A	0.523809523809524	1	PLXNA1	TRUE	Q9UIW2	reviewed	Plexin-A1 (Semaphorin receptor NOV)	PLXNA1 NOV PLXN1	5 out of 5	TISSUE SPECIFICITY: Detected in fetal brain, lung, liver and kidney. {ECO:0000269|PubMed:8570614}.	branchiomotor neuron axon guidance [GO:0021785]; dichotomous subdivision of terminal units involved in salivary gland branching [GO:0060666]; multicellular organism development [GO:0007275]; neuron projection extension [GO:1990138]; regulation of axon extension involved in axon guidance [GO:0048841]; regulation of cell migration [GO:0030334]; regulation of smooth muscle cell migration [GO:0014910]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]	NA	NA	16641997; 8570614; 14702039; 19349973; 21269460
3	127398955	nonsynonymous	G	A	0.536585365853659	1	ABTB1	TRUE	Q969K4	reviewed	Ankyrin repeat and BTB/POZ domain-containing protein 1 (Elongation factor 1A-binding protein)	ABTB1 BPOZ PP2259	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed in all fetal tissues examined including heart, brain, liver, and kidney. Also expressed at lower levels in both adult heart and hypertrophic heart. {ECO:0000269|PubMed:10891360}.	proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination involved in ubiquitin-dependent protein catabolic process [GO:0042787]; regulation of proteolysis [GO:0030162]	NA	NA	10891360; 11494141; 15498874; 14702039; 15489334; 
3	142188337	nonsynonymous	A	C	0.375	1	ATR	TRUE	Q13535	reviewed	Serine/threonine-protein kinase ATR (EC 2.7.11.1) (Ataxia telangiectasia and Rad3-related protein) (FRAP-related protein 1)	ATR FRP1	5 out of 5	TISSUE SPECIFICITY: Ubiquitous, with highest expression in testis. Isoform 2 is found in pancreas, placenta and liver but not in heart, testis and ovary. {ECO:0000269|PubMed:11470508, ECO:0000269|PubMed:8610130, ECO:0000269|PubMed:8843195}.	cell cycle [GO:0007049]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to gamma radiation [GO:0071480]; cellular response to UV [GO:0034644]; DNA damage checkpoint [GO:0000077]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; establishment of macromolecular complex localization to telomere [GO:0097695]; establishment of RNA localization to telomere [GO:0097694]; interstrand cross-link repair [GO:0036297]; multicellular organism development [GO:0007275]; negative regulation of DNA replication [GO:0008156]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of telomerase catalytic core complex assembly [GO:1904884]; positive regulation of telomere maintenance via telomerase [GO:0032212]; protein autophosphorylation [GO:0046777]; protein localization to chromosome, telomeric region [GO:0070198]; regulation of cellular response to heat [GO:1900034]; regulation of signal transduction by p53 class mediator [GO:1901796]; replicative senescence [GO:0090399]; response to drug [GO:0042493]	DISEASE: Seckel syndrome 1 (SCKL1) [MIM:210600]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. {ECO:0000269|PubMed:12640452}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Cutaneous telangiectasia and cancer syndrome, familial (FCTCS) [MIM:614564]: A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. {ECO:0000269|PubMed:22341969}. Note=The disease is caused by mutations affecting the gene represented in this entry.	313846;808;	8978690; 8610130; 11470508; 8843195; 9766667; 9427750; 9636169; 10545197; 9925639; 10608806; 10597277; 10859164; 11114888; 11673449; 11418864; 11721054; 12526805; 11865061; 12011431; 12814551; 12766152; 14657349; 12791985; 15050919; 14742437; 14871897; 15314022; 15496423; 14729973; 15210935; 15680327; 15758953; 18283122; 12640452; 16260606; 18691976; 18669648; 19413330; 20810650; 20801936; 20427287; 21269460; 21144835; 21406692; 23186163; 17344846; 22341969
3	155546124	nonsynonymous	C	T	0.4	1	SLC33A1	TRUE	O00400	reviewed	Acetyl-coenzyme A transporter 1 (AT-1) (Acetyl-CoA transporter 1) (Solute carrier family 33 member 1)	SLC33A1 ACATN AT1	5 out of 5	TISSUE SPECIFICITY: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas. {ECO:0000269|PubMed:9096318}.	BMP signaling pathway [GO:0030509]; SMAD protein signal transduction [GO:0060395]; transmembrane transport [GO:0055085]; transport [GO:0006810]	DISEASE: Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:19061983, ECO:0000269|PubMed:25402622}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]: An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. {ECO:0000269|PubMed:22243965}. Note=The disease is caused by mutations affecting the gene represented in this entry.	171863;300313;	9096318; 14702039; 15489334; 23186163; 25402622; 25944712; 16959974; 19061983; 22243965
3	168840462	nonsynonymous	T	C	0.321428571428571	1	MECOM	TRUE	Q03112	Q13465	reviewed	reviewed	MDS1 and EVI1 complex locus protein MDS1 (Myelodysplasia syndrome 1 protein) (Myelodysplasia syndrome-associated protein 1)	MECOM EVI1	MECOM MDS1	MECOM	MECOM	5 out of 5
3	169831268	nonsynonymous	T	C	0.527777777777778	1	PHC3	TRUE	Q8NDX5	reviewed	Polyhomeotic-like protein 3 (Early development regulatory protein 3) (Homolog of polyhomeotic 3) (hPH3)	PHC3 EDR3 PH3	5 out of 5	NA	multicellular organism development [GO:0007275]; protein sumoylation [GO:0016925]	NA	NA	12384788; 12167701; 14702039; 17974005; 16641997; 15489334; 17525332; 18220336; 18669648; 19636380; 19690332; 20068231; 21282530; 23186163; 24275569
3	182566330	nonsynonymous	G	T	0.555555555555556	1	ATP11B	TRUE	Q9Y2G3	reviewed	Probable phospholipid-transporting ATPase IF (EC 3.6.3.1) (ATPase IR) (ATPase class VI type 11B) (P4-ATPase flippase complex alpha subunit ATP11B)	ATP11B ATPIF ATPIR KIAA0956	5 out of 5	NA	aminophospholipid transport [GO:0015917]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; phospholipid translocation [GO:0045332]	NA	NA	11015572; 16641997; 15489334; 11790799; 10231032; 17974005; 19690332; 21914794; 23585472; 23186163; 24275569
3	183480014	nonsynonymous	G	A	0.551724137931034	1	YEATS2	TRUE	Q9ULM3	reviewed	YEATS domain-containing protein 2	YEATS2 KIAA1197	5 out of 5	NA	histone H3 acetylation [GO:0043966]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]	NA	NA	10574462; 16641997; 15489334; 18669648; 19413330; 19103755; 19690332; 20068231; 21406692; 23186163; 24275569; 25114211; 25772364
3	183882962	nonsynonymous	C	G	0.217391304347826	1	DVL3	TRUE	Q92997	reviewed	Segment polarity protein dishevelled homolog DVL-3 (Dishevelled-3) (DSH homolog 3)	DVL3 KIAA0208	5 out of 5	NA	beta-catenin destruction complex disassembly [GO:1904886]; canonical Wnt signaling pathway [GO:0060070]; cochlea morphogenesis [GO:0090103]; intracellular signal transduction [GO:0035556]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; non-canonical Wnt signaling pathway [GO:0035567]; non-canonical Wnt signaling pathway via JNK cascade [GO:0038031]; outflow tract septum morphogenesis [GO:0003148]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of GTPase activity [GO:0043547]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; protein stabilization [GO:0050821]; regulation of cellular protein localization [GO:1903827]; response to drug [GO:0042493]; Wnt signaling pathway [GO:0016055]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]	NA	NA	8817329; 9344861; 9192851; 9039502; 14702039; 16641997; 15489334; 12805222; 15677333; 18669648; 20227366; 21422228; 21406692; 22863007; 22612246; 23150776; 23186163; 24275569; 25557784; 16959974
3	184073238	nonsynonymous	G	A	0.4	1	CLCN2	TRUE	P51788	reviewed	Chloride channel protein 2 (ClC-2)	CLCN2	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed. Moderately expressed in aortic and coronary vascular smooth muscle cells and expressed at a low level in aortic endothelial cells. {ECO:0000269|PubMed:10198195}.	cell differentiation involved in salivary gland development [GO:0060689]; chloride transmembrane transport [GO:1902476]; ion transmembrane transport [GO:0034220]; retina development in camera-type eye [GO:0060041]; transport [GO:0006810]	DISEASE: Epilepsy, idiopathic generalized 11 (EIG11) [MIM:607628]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269|PubMed:19191339}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Juvenile absence epilepsy 2 (JAE2) [MIM:607628]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. {ECO:0000269|PubMed:12612585, ECO:0000269|PubMed:19710712}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.; DISEASE: Juvenile myoclonic epilepsy 8 (EJM8) [MIM:607628]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269|PubMed:19191339}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Leukoencephalopathy with ataxia (LKPAT) [MIM:615651]: An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. {ECO:0000269|PubMed:23707145}. Note=The disease is caused by mutations affecting the gene represented in this entry.	307;363540;	7795595; 14702039; 16641997; 15489334; 10198195; 19153159; 12612585; 19710717; 22814378; 23186163; 17762171; 19200853; 19710712; 19191339; 23707145
3	185906117	nonsynonymous	T	C	0.571428571428571	0.9	DGKG	TRUE	P49619	reviewed	Diacylglycerol kinase gamma (DAG kinase gamma) (EC 2.7.1.107) (Diglyceride kinase gamma) (DGK-gamma)	DGKG DAGK3	5 out of 5	TISSUE SPECIFICITY: Predominantly expressed in retina and in a much lesser extent in the brain. Other tissues contain extremely low levels of DGK-gamma.	intracellular signal transduction [GO:0035556]; neuron development [GO:0048666]; platelet activation [GO:0030168]; protein kinase C-activating G-protein coupled receptor signaling pathway [GO:0007205]; signal transduction [GO:0007165]	NA	NA	8034597; 10071200; 14702039; 16641997; 15489334; 16959974
4	673778	nonsynonymous	T	C	0.444444444444444	1	MYL5	TRUE	Q02045	reviewed	Myosin light chain 5 (Myosin regulatory light chain 5) (Superfast myosin regulatory light chain 2) (MYLC2) (MyLC-2)	MYL5	4 out of 5	TISSUE SPECIFICITY: Expressed in fetal skeletal muscle and retina.	muscle contraction [GO:0006936]; regulation of muscle contraction [GO:0006937]	NA	NA	1284596; 15489334
4	2195009	nonsynonymous	G	A	0.407407407407407	0.9	POLN	TRUE	Q7Z5Q5	reviewed	DNA polymerase nu (EC 2.7.7.7)	POLN	5 out of 5	TISSUE SPECIFICITY: Highly expressed in testis and heart. Weakly expressed in skeletal muscle. {ECO:0000269|PubMed:12794064}.	DNA-dependent DNA replication [GO:0006261]; double-strand break repair via homologous recombination [GO:0000724]; interstrand cross-link repair [GO:0036297]; translesion synthesis [GO:0019985]	NA	NA	12794064; 14702039; 15815621; 
4	2306871	nonsynonymous	C	T	0.4	1	ZFYVE28	TRUE	Q9HCC9	reviewed	Lateral signaling target protein 2 homolog (hLst2) (Zinc finger FYVE domain-containing protein 28)	ZFYVE28 KIAA1643 LST2	5 out of 5	NA	negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]	NA	NA	10997877; 14702039; 15815621; 15489334; 19460345; 23186163
4	38775922	nonsense	G	T	0.535714285714286	0	TLR10	TRUE	Q9BXR5	reviewed	Toll-like receptor 10 (CD antigen CD290)	TLR10 UNQ315/PRO358	5 out of 5	TISSUE SPECIFICITY: Highly expressed in spleen, lymph node, thymus, tonsil and at lower levels in lung. Highly expressed in promyelocytic HL-60 cells and in B-cell lines.	immune response [GO:0006955]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; MyD88-dependent toll-like receptor signaling pathway [GO:0002755]; positive regulation of inflammatory response [GO:0050729]; regulation of cytokine secretion [GO:0050707]; toll-like receptor 10 signaling pathway [GO:0034166]; toll-like receptor signaling pathway [GO:0002224]	NA	NA	11267672; 18810425; 19924287; 12975309; 14702039; 15489334; 18332149
4	76704004	nonsynonymous	T	C	0.541666666666667	1	USO1	TRUE	O60763	reviewed	General vesicular transport factor p115 (Protein USO1 homolog) (Transcytosis-associated protein) (TAP) (Vesicle-docking protein)	USO1 VDP	5 out of 5	NA	COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi vesicle docking [GO:0048211]; intracellular protein transport [GO:0006886]; membrane fusion [GO:0061025]; transcytosis [GO:0045056]; vesicle fusion with Golgi apparatus [GO:0048280]	NA	NA	9478999; 14702039; 17974005; 15815621; 15489334; 17081983; 18669648; 18318008; 19413330; 19454686; 19690332; 19608861; 20068231; 21269460; 21406692; 23186163; 24275569; 19247479
4	108552848	nonsynonymous	G	A	0.4	1	PAPSS1	TRUE	O43252	reviewed	Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPS synthase 1) (PAPSS 1) (Sulfurylase kinase 1) (SK 1) (SK1) [Includes: Sulfate adenylyltransferase (EC 2.7.7.4) (ATP-sulfurylase) (Sulfate adenylate transferase) (SAT); Adenylyl-sulfate kinase (EC 2.7.1.25) (3'-phosphoadenosine-5'-phosphosulfate synthase) (APS kinase) (Adenosine-5'-phosphosulfate 3'-phosphotransferase) (Adenylylsulfate 3'-phosphotransferase)]	PAPSS1 ATPSK1 PAPSS	5 out of 5	TISSUE SPECIFICITY: Expressed in testis, pancreas, kidney, thymus, prostate, ovary, small intestine, colon, leukocytes and liver. Also expressed in high endothelial venules (HEV) cells and in cartilage.	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process [GO:0050428]; skeletal system development [GO:0001501]; sulfate assimilation [GO:0000103]	NA	NA	9576487; 9668121; 9648242; 10679223; 15489334; 9915785; 21269460; 22223895
4	109086280	nonsynonymous	C	T	0.542857142857143	1	LEF1	TRUE	Q9UJU2	reviewed	Lymphoid enhancer-binding factor 1 (LEF-1) (T cell-specific transcription factor 1-alpha) (TCF1-alpha)	LEF1	5 out of 5	TISSUE SPECIFICITY: Detected in thymus. Not detected in normal colon, but highly expressed in colon cancer biopsies and colon cancer cell lines. Expressed in several pancreatic tumors and weakly expressed in normal pancreatic tissue. Isoforms 1 and 5 are detected in several pancreatic cell lines. {ECO:0000269|PubMed:19653274}.	alpha-beta T cell differentiation [GO:0046632]; anatomical structure regression [GO:0060033]; apoptotic process involved in morphogenesis [GO:0060561]; apoptotic process involved in patterning of blood vessels [GO:1902262]; B cell proliferation [GO:0042100]; beta-catenin-TCF complex assembly [GO:1904837]; BMP signaling pathway [GO:0030509]; canonical Wnt signaling pathway [GO:0060070]; cell chemotaxis [GO:0060326]; cellular response to cytokine stimulus [GO:0071345]; cellular response to interleukin-4 [GO:0071353]; chorio-allantoic fusion [GO:0060710]; dentate gyrus development [GO:0021542]; embryonic limb morphogenesis [GO:0030326]; epithelial to mesenchymal transition [GO:0001837]; eye pigmentation [GO:0048069]; face morphogenesis [GO:0060325]; forebrain neuroblast division [GO:0021873]; forebrain neuron differentiation [GO:0021879]; forebrain radial glial cell differentiation [GO:0021861]; formation of radial glial scaffolds [GO:0021943]; histone H3 acetylation [GO:0043966]; histone H4 acetylation [GO:0043967]; hypothalamus development [GO:0021854]; kidney development [GO:0001822]; mammary gland development [GO:0030879]; muscle fiber development [GO:0048747]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic process in bone marrow [GO:0071866]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of DNA binding [GO:0043392]; negative regulation of estrogen receptor binding [GO:0071899]; negative regulation of interleukin-13 production [GO:0032696]; negative regulation of interleukin-4 production [GO:0032713]; negative regulation of interleukin-5 production [GO:0032714]; negative regulation of striated muscle tissue development [GO:0045843]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; neural crest cell migration [GO:0001755]; neutrophil differentiation [GO:0030223]; odontoblast differentiation [GO:0071895]; odontogenesis of dentin-containing tooth [GO:0042475]; organ regeneration [GO:0031100]; osteoblast differentiation [GO:0001649]; palate development [GO:0060021]; paraxial mesoderm formation [GO:0048341]; patterning of blood vessels [GO:0001569]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of cell cycle process [GO:0090068]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell proliferation in bone marrow [GO:0071864]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of gene expression [GO:0010628]; positive regulation of granulocyte differentiation [GO:0030854]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; regulation of cell-cell adhesion [GO:0022407]; regulation of striated muscle tissue development [GO:0016202]; response to lithium ion [GO:0010226]; sensory perception of taste [GO:0050909]; skin development [GO:0043588]; somitogenesis [GO:0001756]; sprouting angiogenesis [GO:0002040]; T cell receptor V(D)J recombination [GO:0033153]; T-helper 1 cell differentiation [GO:0045063]; tongue development [GO:0043586]; trachea gland development [GO:0061153]; transcription from RNA polymerase II promoter [GO:0006366]; Wnt signaling pathway [GO:0016055]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]	NA	NA	2010090; 10756202; 19653274; 14702039; 15815621; 15489334; 9119228; 9488439; 9751710; 11326276; 11266540; 12192039; 12556497; 14759258; 19690332; 16959974
4	119259448	nonsynonymous	C	T	0.357142857142857	1	PRSS12	TRUE	P56730	reviewed	Neurotrypsin (EC 3.4.21.-) (Leydin) (Motopsin) (Serine protease 12)	PRSS12	5 out of 5	TISSUE SPECIFICITY: Brain and Leydig cells of the testis.	exocytosis [GO:0006887]; zymogen activation [GO:0031638]	DISEASE: Mental retardation, autosomal recessive 1 (MRT1) [MIM:249500]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. {ECO:0000269|PubMed:12459588}. Note=The disease is caused by mutations affecting the gene represented in this entry.	88616;	9540828; 15815621; 10103056; 12459588
4	152096180	nonsynonymous	T	C	0.588235294117647	0	SH3D19	TRUE	Q5HYK7	reviewed	SH3 domain-containing protein 19 (ADAM-binding protein Eve-1) (EEN-binding protein) (EBP)	SH3D19	5 out of 5	TISSUE SPECIFICITY: Widely expressed with highest levels in heart, skeletal muscle, kidney, liver, placenta, small intestine and lung. Expressed at low levels in colon, thymus, spleen and leukocytes. {ECO:0000269|PubMed:15280379}.	cytoskeleton organization [GO:0007010]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; regulation of cell morphogenesis [GO:0022604]	NA	NA	14702039; 17974005; 15815621; 15489334; 14551139; 15280379; 18669648; 21834987; 24275569
4	152571730	nonsynonymous	G	T	0.533333333333333	0.3	FAM160A1	TRUE	Q05DH4	reviewed	Protein FAM160A1	FAM160A1	2 out of 5	NA	NA	NA	NA	15815621; 14702039; 15489334
4	154519764	nonsynonymous	A	G	0.5	1	KIAA0922	TRUE	A2VDJ0	reviewed	Transmembrane protein 131-like	KIAA0922 TMEM131L	5 out of 5	TISSUE SPECIFICITY: Expressed in thymocytes. {ECO:0000269|PubMed:23690469}.	negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of immature T cell proliferation in thymus [GO:0033088]; Wnt signaling pathway [GO:0016055]	NA	NA	11230166; 15815621; 14702039; 15489334; 10231032; 18669648; 19690332; 21269460; 23690469
4	170398474	nonsynonymous	A	C	0.424242424242424	1	NEK1	TRUE	Q96PY6	reviewed	Serine/threonine-protein kinase Nek1 (EC 2.7.11.1) (Never in mitosis A-related kinase 1) (NimA-related protein kinase 1) (Renal carcinoma antigen NY-REN-55)	NEK1 KIAA1901	5 out of 5	TISSUE SPECIFICITY: High fetal expression in the brain and kidney. {ECO:0000269|PubMed:21211617}.	cell division [GO:0051301]; cilium assembly [GO:0042384]; mitotic nuclear division [GO:0007067]; protein phosphorylation [GO:0006468]	DISEASE: Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269|PubMed:22499340}. Note=The disease is caused by mutations affecting the gene represented in this entry. In some cases NEK1 mutations result in disease phenotype in the presence of mutations in DYNC2H1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617). {ECO:0000269|PubMed:21211617}.	93269;	11572484; 17974005; 15815621; 15489334; 14702039; 10508479; 18691976; 18669648; 19369195; 20230784; 21211617; 21269460; 23186163; 24275569; 26167768; 17344846; 22499340
4	170990375	nonsynonymous	C	T	0.434782608695652	0.1	AADAT	TRUE	Q8N5Z0	reviewed	Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial (KAT/AadAT) (2-aminoadipate aminotransferase) (2-aminoadipate transaminase) (EC 2.6.1.39) (Alpha-aminoadipate aminotransferase) (AadAT) (Kynurenine aminotransferase II) (Kynurenine--oxoglutarate aminotransferase II) (Kynurenine--oxoglutarate transaminase 2) (EC 2.6.1.7) (Kynurenine--oxoglutarate transaminase II)	AADAT KAT2	5 out of 5	TISSUE SPECIFICITY: Higher expression in the liver. Also found in heart, brain, kidney, pancreas, prostate, testis and ovary.	2-oxoglutarate metabolic process [GO:0006103]; biosynthetic process [GO:0009058]; glutamate metabolic process [GO:0006536]; kynurenine metabolic process [GO:0070189]; L-lysine catabolic process to acetyl-CoA via saccharopine [GO:0033512]; lysine catabolic process [GO:0006554]; tryptophan catabolic process [GO:0006569]; tryptophan catabolic process to kynurenine [GO:0019441]	NA	NA	12126930; 14702039; 15489334; 24275569; 18620547; 18056995; 18056996
5	16701497	nonsynonymous	C	T	0.388888888888889	1	MYO10	TRUE	Q9HD67	reviewed	Unconventional myosin-X (Unconventional myosin-10)	MYO10 KIAA0799	5 out of 5	TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10984435}.	cytoskeleton-dependent intracellular transport [GO:0030705]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; positive regulation of cell-cell adhesion [GO:0022409]; regulation of cell shape [GO:0008360]; regulation of filopodium assembly [GO:0051489]	NA	NA	10984435; 11278607; 9872452; 15372022; 15489334; 10610710; 17081983; 16371656; 16894163; 18570893; 20682791; 22814378; 21642953; 21321230; 23012428
5	33462017	nonsynonymous	A	G	0.588235294117647	1	TARS	TRUE	P26639	reviewed	Threonine--tRNA ligase, cytoplasmic (EC 6.1.1.3) (Threonyl-tRNA synthetase) (ThrRS)	TARS	5 out of 5	NA	threonyl-tRNA aminoacylation [GO:0006435]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]	NA	NA	2033077; 14702039; 15372022; 15489334; 16139798; 17203973; 19608861; 21269460; 23186163; 
5	33546207	nonsynonymous	T	C	0.333333333333333	1	ADAMTS12	TRUE	P58397	reviewed	A disintegrin and metalloproteinase with thrombospondin motifs 12 (ADAM-TS 12) (ADAM-TS12) (ADAMTS-12) (EC 3.4.24.-)	ADAMTS12 UNQ1918/PRO4389	5 out of 5	TISSUE SPECIFICITY: Expressed in skeletal muscle and fat. Detected at significant levels in fetal lung. Widely expressed in gastric carcinomas and in cancer cells of diverse origin. {ECO:0000269|PubMed:11279086, ECO:0000269|PubMed:16611630}.	cell-matrix adhesion [GO:0007160]; cell migration [GO:0016477]; cellular response to BMP stimulus [GO:0071773]; cellular response to interleukin-1 [GO:0071347]; cellular response to tumor necrosis factor [GO:0071356]; negative regulation of cellular response to hepatocyte growth factor stimulus [GO:2001113]; negative regulation of cellular response to vascular endothelial growth factor stimulus [GO:1902548]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of hepatocyte growth factor receptor signaling pathway [GO:1902203]; proteoglycan catabolic process [GO:0030167]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of endothelial tube morphogenesis [GO:1901509]; regulation of inflammatory response [GO:0050727]	NA	NA	11279086; 12975309; 15372022; 15489334; 16611630; 17895370; 18485748
5	37153871	nonsynonymous	G	T	0.535714285714286	0	C5orf42	TRUE	Q9H799	reviewed	Uncharacterized protein C5orf42	C5orf42	5 out of 5	NA	cerebellum development [GO:0021549]; cilium assembly [GO:0042384]; coronary vasculature development [GO:0060976]; embryonic digit morphogenesis [GO:0042733]; establishment of planar polarity [GO:0001736]; kidney development [GO:0001822]; palate development [GO:0060021]; protein localization to ciliary transition zone [GO:1904491]; ventricular septum development [GO:0003281]	DISEASE: Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:22425360, ECO:0000269|PubMed:23012439, ECO:0000269|PubMed:26477546}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Orofaciodigital syndrome 6 (OFD6) [MIM:277170]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch. {ECO:0000269|PubMed:24178751}. Note=The disease is caused by mutations affecting the gene represented in this entry.	475;2754;65684;	15372022; 15489334; 14702039; 23012439; 23186163; 24178751; 22425360; 22264561; 26477546
5	44811207	nonsynonymous	T	G	0.416666666666667	1	MRPS30	TRUE	Q9NP92	reviewed	28S ribosomal protein S30, mitochondrial (MRP-S30) (S30mt) (Programmed cell death protein 9)	MRPS30 PDCD9 BM-047	4 out of 5	TISSUE SPECIFICITY: Heart, skeletal muscle, kidney and liver. Lower expression in placenta and peripheral blood leukocytes. {ECO:0000269|PubMed:10640817, ECO:0000269|PubMed:11279123}.	apoptotic process [GO:0006915]; mitochondrial translational elongation [GO:0070125]; mitochondrial translational termination [GO:0070126]	NA	NA	10640817; 11230166; 14702039; 15489334; 11042152; 11543634; 11279123; 21269460; 25944712
5	68716110	nonsynonymous	T	A	0.533333333333333	0	MARVELD2	TRUE	Q8N4S9	reviewed	MARVEL domain-containing protein 2 (Tricellulin)	MARVELD2 TRIC	5 out of 5	NA	bicellular tight junction assembly [GO:0070830]; cell-cell junction organization [GO:0045216]; establishment of endothelial barrier [GO:0061028]; sensory perception of sound [GO:0007605]	DISEASE: Deafness, autosomal recessive, 49 (DFNB49) [MIM:610153]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:17186462}. Note=The disease is caused by mutations affecting the gene represented in this entry.	90636;	16365161; 17186462; 14702039; 15372022; 15489334; 17081983; 18691976; 18669648; 23186163
5	74675250	nonsynonymous	T	C	0.307692307692308	1	COL4A3BP	TRUE	Q9Y5P4	reviewed	Collagen type IV alpha-3-binding protein (Ceramide transfer protein) (hCERT) (Goodpasture antigen-binding protein) (GPBP) (START domain-containing protein 11) (StARD11) (StAR-related lipid transfer protein 11)	COL4A3BP CERT STARD11	5 out of 5	TISSUE SPECIFICITY: Widely expressed.	cell morphogenesis [GO:0000902]; cell proliferation [GO:0008283]; ceramide metabolic process [GO:0006672]; endoplasmic reticulum organization [GO:0007029]; ER to Golgi ceramide transport [GO:0035621]; heart morphogenesis [GO:0003007]; immune response [GO:0006955]; in utero embryonic development [GO:0001701]; lipid homeostasis [GO:0055088]; mitochondrion morphogenesis [GO:0070584]; muscle contraction [GO:0006936]; protein phosphorylation [GO:0006468]; response to endoplasmic reticulum stress [GO:0034976]; signal transduction [GO:0007165]; sphingolipid biosynthetic process [GO:0030148]	DISEASE: Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:25533962}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	10212244; 11007769; 14685229; 14702039; 15372022; 15489334; 17081983; 16895911; 17591919; 18669648; 19005213; 19690332; 21269460; 23186163; 24275569; 25533962; 18184806; 20036255; 23033978
5	81601230	nonsynonymous	T	C	0.454545454545455	0	ATP6AP1L	TRUE	Q52LC2	reviewed	V-type proton ATPase subunit S1-like protein (Vacuolar proton pump subunit S1-like protein)	ATP6AP1L	2 out of 5	NA	ATP hydrolysis coupled proton transport [GO:0015991]	NA	NA	15489334
5	89969880	nonsynonymous	A	G	0.551724137931034	1	ADGRV1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
5	120021916	nonsynonymous	A	G	0.342105263157895	0	PRR16	TRUE	Q569H4	reviewed	Protein Largen (Mesenchymal stem cell protein DSC54) (Proline-rich protein 16)	PRR16	3 out of 5	NA	positive regulation of cell size [GO:0045793]; positive regulation of translation [GO:0045727]	NA	NA	15489334; 24656129
5	131925483	nonsynonymous	G	C	0.52	1	RAD50	TRUE	Q92878	reviewed	DNA repair protein RAD50 (hRAD50) (EC 3.6.-.-)	RAD50	5 out of 5	TISSUE SPECIFICITY: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts. {ECO:0000269|PubMed:8756642}.	cellular response to DNA damage stimulus [GO:0006974]; chromosome organization involved in meiotic cell cycle [GO:0070192]; DNA double-strand break processing [GO:0000729]; DNA duplex unwinding [GO:0032508]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA synthesis involved in DNA repair [GO:0000731]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of telomere capping [GO:1904354]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; positive regulation of kinase activity [GO:0033674]; positive regulation of protein autophosphorylation [GO:0031954]; positive regulation of telomere maintenance [GO:0032206]; reciprocal meiotic recombination [GO:0007131]; regulation of mitotic recombination [GO:0000019]; regulation of signal transduction by p53 class mediator [GO:1901796]; strand displacement [GO:0000732]; telomere maintenance [GO:0000723]; telomere maintenance via recombination [GO:0000722]; telomere maintenance via telomerase [GO:0007004]; telomeric 3' overhang formation [GO:0031860]; viral process [GO:0016032]	DISEASE: Nijmegen breakage syndrome-like disorder (NBSLD) [MIM:613078]: A disorder similar to Nijmegen breakage syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, short stature and bird-like face. Immunodeficiency is absent. {ECO:0000269|PubMed:19409520}. Note=The disease is caused by mutations affecting the gene represented in this entry.	145;240760;	8756642; 10415333; 15372022; 15489334; 9590181; 9705271; 9651580; 10426999; 10783165; 10839544; 10888888; 11096100; 11741547; 12124628; 12384589; 15456891; 15064416; 15723659; 15916964; 17525332; 18669648; 19409520; 19690332; 19608861; 20943970; 20068231; 21269460; 23186163; 24275569; 14684699
5	140626664	nonsynonymous	TAACACG	CAACGCA	0.4	0	PCDHB15	TRUE	Q9Y5E8	reviewed	Protocadherin beta-15 (PCDH-beta-15)	PCDHB15	4 out of 5	NA	cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]	NA	NA	10380929; 11322959; 15489334; 16959974
5	149784658	nonsynonymous	A	G	0.620689655172414	0.2	CD74	TRUE	P04233	reviewed	HLA class II histocompatibility antigen gamma chain (HLA-DR antigens-associated invariant chain) (Ia antigen-associated invariant chain) (Ii) (p33) (CD antigen CD74)	CD74 DHLAG	5 out of 5	NA	activation of MAPK activity [GO:0000187]; antigen processing and presentation of endogenous antigen [GO:0019883]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell proliferation [GO:0008283]; chaperone mediated protein folding requiring cofactor [GO:0051085]; defense response [GO:0006952]; immunoglobulin mediated immune response [GO:0016064]; intracellular protein transport [GO:0006886]; leukocyte migration [GO:0050900]; macrophage migration inhibitory factor signaling pathway [GO:0035691]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of mature B cell apoptotic process [GO:0002906]; negative regulation of peptide secretion [GO:0002792]; negative regulation of T cell differentiation [GO:0045581]; negative thymic T cell selection [GO:0045060]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of chemokine (C-X-C motif) ligand 2 production [GO:2000343]; positive regulation of cytokine-mediated signaling pathway [GO:0001961]; positive regulation of dendritic cell antigen processing and presentation [GO:0002606]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of macrophage cytokine production [GO:0060907]; positive regulation of neutrophil chemotaxis [GO:0090023]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of T cell differentiation [GO:0045582]; positive regulation of type 2 immune response [GO:0002830]; positive thymic T cell selection [GO:0045059]; prostaglandin biosynthetic process [GO:0001516]; protein complex assembly [GO:0006461]; regulation of macrophage activation [GO:0043030]; signal transduction [GO:0007165]; T cell selection [GO:0045058]	DISEASE: Note=A chromosomal aberration involving CD74 is found in a non-small cell lung tumor. Results in the formation of a CD74-ROS1 chimeric protein. {ECO:0000269|PubMed:12661006}.	NA	6324166; 6586420; 3001652; 3459184; 14702039; 15372022; 15489334; 1448172; 12661006; 12782713; 19092054; 19159218; 21269460; 22171320; 23234360; 25944712; 7477400; 9843486; 10022822
5	150675801	nonsynonymous	C	T	0.583333333333333	1	SLC36A3	TRUE	Q495N2	reviewed	Proton-coupled amino acid transporter 3 (Proton/amino acid transporter 3) (Solute carrier family 36 member 3) (Tramdorin-2)	SLC36A3 PAT3 TRAMD2	4 out of 5	TISSUE SPECIFICITY: Specifically expressed in testis. {ECO:0000269|PubMed:15058382}.	glycine transport [GO:0015816]	NA	NA	12809675; 14702039; 15489334; 15058382
5	150718599	nonsynonymous	C	T	0.447368421052632	0	SLC36A2	FALSE	Q495M3	reviewed	Proton-coupled amino acid transporter 2 (Proton/amino acid transporter 2) (Solute carrier family 36 member 2) (Tramdorin-1)	SLC36A2 PAT2 TRAMD1	5 out of 5	TISSUE SPECIFICITY: Abundantly expressed in kidney and muscle. Expressed in the S1 segment of the proximal tubule close to the glomerulus. {ECO:0000269|PubMed:15058382, ECO:0000269|PubMed:19033659}.	amino acid transport [GO:0006865]; ion transport [GO:0006811]; proline transmembrane transport [GO:0035524]	DISEASE: Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269|PubMed:19033659}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. {ECO:0000269|PubMed:19033659}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families.	42062;	12809675; 14702039; 15489334; 15058382; 19033659
5	160114898	nonsynonymous	C	T	0.277777777777778	0	ATP10B	TRUE	O94823	reviewed	Probable phospholipid-transporting ATPase VB (EC 3.6.3.1) (ATPase class V type 10B) (P4-ATPase flippase complex alpha subunit ATP10B)	ATP10B ATPVB KIAA0715	5 out of 5	TISSUE SPECIFICITY: Found in brain and in low levels in testis.	phospholipid translocation [GO:0045332]	NA	NA	9872452; 14702039; 15372022
5	176734648	nonsynonymous	G	A	0.5	0	MXD3	FALSE	Q9BW11	reviewed	Max dimerization protein 3 (Max dimerizer 3) (Class C basic helix-loop-helix protein 13) (bHLHc13) (Max-associated protein 3) (Max-interacting transcriptional repressor MAD3) (Myx)	MXD3 BHLHC13 MAD3	4 out of 5	NA	negative regulation of transcription, DNA-templated [GO:0045892]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 17974005; 15372022; 15489334
5	177580532	nonsynonymous	C	T	0.478260869565217	1	NHP2	TRUE	Q9NX24	reviewed	H/ACA ribonucleoprotein complex subunit 2 (Nucleolar protein family A member 2) (snoRNP protein NHP2)	NHP2 NOLA2 HSPC286	5 out of 5	TISSUE SPECIFICITY: Expressed in brain, colon, heart, kidney, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus. Also expressed at lower levels in the liver. {ECO:0000269|PubMed:12020816}.	cleavage involved in rRNA processing [GO:0000469]; maturation of LSU-rRNA [GO:0000470]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; rRNA pseudouridine synthesis [GO:0031118]; snRNA pseudouridine synthesis [GO:0031120]; telomere maintenance via telomerase [GO:0007004]; translation [GO:0006412]	DISEASE: Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) [MIM:613987]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:18523010}. Note=The disease is caused by mutations affecting the gene represented in this entry.	1775;	11074001; 12020816; 11042152; 14702039; 15372022; 15489334; 11790298; 12429849; 15044956; 19179534; 20797632; 20068231; 21269460; 22814378; 24275569; 25218447; 25114211; 25772364; 25755297; 18523010
5	179193323	nonsynonymous	A	G	0.375	1	MAML1	TRUE	Q92585	reviewed	Mastermind-like protein 1 (Mam-1)	MAML1 KIAA0200	5 out of 5	TISSUE SPECIFICITY: Widely expressed with highest levels in heart, pancreas, peripheral blood leukocytes and spleen. {ECO:0000269|PubMed:11101851}.	atrioventricular node cell development [GO:0060928]; atrioventricular node development [GO:0003162]; myoblast differentiation [GO:0045445]; Notch signaling pathway [GO:0007219]; positive regulation of myotube differentiation [GO:0010831]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; positive regulation of transcription of Notch receptor target [GO:0007221]; protein phosphorylation [GO:0006468]; transcription initiation from RNA polymerase II promoter [GO:0006367]	NA	NA	8724849; 11101851; 11390662; 12050117; 15546612; 17317671; 19690332; 19608861; 23186163; 16530044
5	179407158	nonsynonymous	T	C	0.4	1	RNF130	TRUE	Q86XS8	reviewed	E3 ubiquitin-protein ligase RNF130 (EC 6.3.2.-) (Goliath homolog) (H-Goliath) (RING finger protein 130)	RNF130	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in leukocytes. Not expressed in erythroblasts. {ECO:0000269|PubMed:16549277}.	apoptotic process [GO:0006915]; programmed cell death [GO:0012501]	NA	NA	13679316; 15372022; 15489334; 16549277; 19159218; 19690332
5	180045911	nonsynonymous	G	A	0.5	1	FLT4	TRUE	P35916	reviewed	Vascular endothelial growth factor receptor 3 (VEGFR-3) (EC 2.7.10.1) (Fms-like tyrosine kinase 4) (FLT-4) (Tyrosine-protein kinase receptor FLT4)	FLT4 VEGFR3	5 out of 5	TISSUE SPECIFICITY: Detected in endothelial cells (at protein level). Widely expressed. Detected in fetal spleen, lung and brain. Detected in adult liver, muscle, thymus, placenta, lung, testis, ovary, prostate, heart, and kidney. {ECO:0000269|PubMed:1327515, ECO:0000269|PubMed:20224550, ECO:0000269|PubMed:7675451}.	blood vessel morphogenesis [GO:0048514]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; lymphangiogenesis [GO:0001946]; lymph vessel development [GO:0001945]; negative regulation of apoptotic process [GO:0043066]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of cell proliferation [GO:0008284]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JNK cascade [GO:0046330]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of protein kinase C signaling [GO:0090037]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of vascular endothelial growth factor production [GO:0010575]; protein autophosphorylation [GO:0046777]; regulation of blood vessel remodeling [GO:0060312]; sprouting angiogenesis [GO:0002040]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; vasculature development [GO:0001944]	DISEASE: Lymphedema, hereditary, 1A (LMPH1A) [MIM:153100]: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. {ECO:0000269|PubMed:10835628, ECO:0000269|PubMed:10856194, ECO:0000269|PubMed:16924388, ECO:0000269|PubMed:16965327, ECO:0000269|PubMed:17458866, ECO:0000269|PubMed:19289394, ECO:0000269|PubMed:26091405, ECO:0000269|PubMed:9817924}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Hemangioma, capillary infantile (HCI) [MIM:602089]: A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. {ECO:0000269|PubMed:11807987}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Note=Plays an important role in tumor lymphangiogenesis, in cancer cell survival, migration, and formation of metastases.	79452;	1327515; 1319394; 8386825; 8700872; 18593464; 14702039; 15372022; 1310071; 7692369; 15340161; 7898938; 7675451; 9435229; 11532940; 12881528; 15474514; 15102829; 16076871; 16335952; 16452200; 17210781; 19779139; 19610651; 20826270; 20431062; 20224550; 20445537; 21273538; 18680722; 19230644; 21711246; 21196198; 9817924; 10856194; 10835628; 11807987; 16965327; 16924388; 17458866; 17344846; 19289394; 26091405
6	7405508	nonsynonymous	G	A	0.516129032258065	1	RIOK1	TRUE	Q9BRS2	reviewed	Serine/threonine-protein kinase RIO1 (EC 2.7.11.1) (RIO kinase 1)	RIOK1	4 out of 5	NA	rRNA processing [GO:0006364]	NA	NA	14702039; 15489334; 17974005; 18669648; 19413330; 19690332; 20068231; 21269460; 21406692; 23186163
6	31525973	nonsynonymous	G	A	0.625	1	NFKBIL1	TRUE	Q9UBC1	reviewed	NF-kappa-B inhibitor-like protein 1 (Inhibitor of kappa B-like protein) (I-kappa-B-like protein) (IkappaBL) (Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1)	NFKBIL1 IKBL	5 out of 5	TISSUE SPECIFICITY: Detected in different cell types including monocytes, T-cells, B-cells and hepatocytes.	cellular response to lipopolysaccharide [GO:0071222]; cytoplasmic sequestering of transcription factor [GO:0042994]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of tumor necrosis factor production [GO:0032720]	DISEASE: Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000305|PubMed:12509789}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	NA	8081366; 9480751; 10369924; 10202016; 14702039; 14574404; 15489334; 18691976; 20829348; 12509789
6	31939898	nonsynonymous	C	T	0.551724137931034	0	DXO	TRUE	O77932	reviewed	Decapping and exoribonuclease protein (DXO) (EC 3.1.13.-) (EC 3.6.1.-) (Dom-3 homolog Z)	DXO DOM3L DOM3Z NG6	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:9799600}.	metabolic process [GO:0008152]; mRNA catabolic process [GO:0006402]; nuclear mRNA surveillance [GO:0071028]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; RNA destabilization [GO:0050779]	NA	NA	9799600; 14656967; 14574404; 15489334; 10686478; 21750099
6	31939898	nonsynonymous	C	T	0.551724137931034	0	STK19	TRUE	P49842	reviewed	Serine/threonine-protein kinase 19 (EC 2.7.11.1) (Protein G11) (Protein RP1)	STK19 G11 RP1	5 out of 5	TISSUE SPECIFICITY: Monocytes, hepatocytes, epithelial cells, T- and B-lymphocytes.	protein phosphorylation [GO:0006468]	NA	NA	8012361; 8132574; 14656967; 14574404; 8575831; 9812991; 15986447; 17344846
6	32170247	nonsynonymous	C	T	0.65	0	NOTCH4	TRUE	Q99466	reviewed	Neurogenic locus notch homolog protein 4 (Notch 4) (hNotch4) [Cleaved into: Notch 4 extracellular truncation; Notch 4 intracellular domain]	NOTCH4 INT3	5 out of 5	TISSUE SPECIFICITY: Highly expressed in the heart, moderately in the lung and placenta and at low levels in the liver, skeletal muscle, kidney, pancreas, spleen, lymph node, thymus, bone marrow and fetal liver. No expression was seen in adult brain or peripheral blood leukocytes.	cell differentiation [GO:0030154]; cell fate determination [GO:0001709]; embryo development [GO:0009790]; endothelial cell morphogenesis [GO:0001886]; hemopoiesis [GO:0030097]; mammary gland development [GO:0030879]; morphogenesis of a branching structure [GO:0001763]; negative regulation of cell differentiation [GO:0045596]; negative regulation of endothelial cell differentiation [GO:0045602]; Notch receptor processing [GO:0007220]; Notch signaling pathway [GO:0007219]; patterning of blood vessels [GO:0001569]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription of Notch receptor target [GO:0007221]; transcription initiation from RNA polymerase II promoter [GO:0006367]	NA	NA	9168133; 9693032; 14574404; 10079256; 11101851; 12370315
6	46620240	nonsynonymous	C	T	0.533333333333333	0	CYP39A1	TRUE	Q9NYL5	reviewed	24-hydroxycholesterol 7-alpha-hydroxylase (EC 1.14.14.26) (Cytochrome P450 39A1) (hCYP39A1) (Oxysterol 7-alpha-hydroxylase)	CYP39A1	5 out of 5	TISSUE SPECIFICITY: Liver specific.	bile acid biosynthetic process [GO:0006699]; bile acid catabolic process [GO:0030573]; cholesterol catabolic process [GO:0006707]; digestion [GO:0007586]; sterol metabolic process [GO:0016125]	NA	NA	10748047; 14702039; 14574404; 15489334
6	58285389	nonsynonymous	C	T	0.407407407407407	1	LINC00680-GUSBP4	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
6	58285389	nonsynonymous	C	T	0.407407407407407	1	LINC00680	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
6	86200277	nonsynonymous	T	A	0.416666666666667	1	NT5E	FALSE	P21589	reviewed	5'-nucleotidase (5'-NT) (EC 3.1.3.5) (Ecto-5'-nucleotidase) (CD antigen CD73)	NT5E NT5 NTE	5 out of 5	NA	adenosine biosynthetic process [GO:0046086]; AMP catabolic process [GO:0006196]; brain development [GO:0007420]; DNA metabolic process [GO:0006259]; leukocyte cell-cell adhesion [GO:0007159]; negative regulation of inflammatory response [GO:0050728]; positive regulation of lipid biosynthetic process [GO:0046889]; purine nucleotide biosynthetic process [GO:0006164]; purine nucleotide catabolic process [GO:0006195]; pyrimidine nucleoside catabolic process [GO:0046135]; response to aluminum ion [GO:0010044]	DISEASE: Calcification of joints and arteries (CALJA) [MIM:211800]: A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands. {ECO:0000269|PubMed:21288095}. Note=The disease is caused by mutations affecting the gene represented in this entry.	289601;	2129526; 16303743; 14574404; 8566797; 2173922; 19159218; 19349973; 21933152; 24275569; 23142347; 21288095; 24887587
6	107103544	nonsynonymous	G	A	0.448275862068966	1	QRSL1	TRUE	Q9H0R6	reviewed	Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial (Glu-AdT subunit A) (EC 6.3.5.7) (Glutaminyl-tRNA synthase-like protein 1)	QRSL1	5 out of 5	NA	glutaminyl-tRNAGln biosynthesis via transamidation [GO:0070681]; mitochondrial translation [GO:0032543]; regulation of protein stability [GO:0031647]	NA	NA	11230166; 14702039; 14574404; 15489334; 19805282; 21269460
6	111587204	nonsynonymous	A	G	0.6	0	MFSD4B	TRUE	Q5TF39	reviewed	Sodium-dependent glucose transporter 1 (Major facilitator superfamily domain-containing protein 4B)	MFSD4B KIAA1919 NAGLT1 HSPC100	3 out of 5	NA	carbohydrate transport [GO:0008643]; sodium ion transport [GO:0006814]	NA	NA	14702039; 14574404; 15489334; 11572484; 
6	128505804	nonsynonymous	A	C	0.2	1	PTPRK	TRUE	Q15262	reviewed	Receptor-type tyrosine-protein phosphatase kappa (Protein-tyrosine phosphatase kappa) (R-PTP-kappa) (EC 3.1.3.48)	PTPRK PTPK	5 out of 5	TISSUE SPECIFICITY: High levels in lung, brain and colon; less in liver, pancreas, stomach, kidney, placenta and mammary carcinoma.	cell adhesion [GO:0007155]; cell migration [GO:0016477]; cellular response to reactive oxygen species [GO:0034614]; cellular response to UV [GO:0034644]; focal adhesion assembly [GO:0048041]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron projection development [GO:0031175]; protein dephosphorylation [GO:0006470]; protein localization to cell surface [GO:0034394]; signal transduction [GO:0007165]; transforming growth factor beta receptor signaling pathway [GO:0007179]	NA	NA	8663237; 9047348; 14574404; 15489334; 19836242; 19159218; 19349973; 24275569; 19167335
6	132891756	nonsynonymous	A	G	0.512820512820513	1	TAAR6	TRUE	Q96RI8	reviewed	Trace amine-associated receptor 6 (TaR-6) (Trace amine receptor 6) (Trace amine receptor 4) (TaR-4)	TAAR6 TA4 TAR4 TRAR4	5 out of 5	TISSUE SPECIFICITY: Expressed at low abundance in various brain tissues, as well as in fetal liver, but not in the cerebellum or placenta. In the brain, comparable levels of expression in basal ganglia, frontal cortex, substantia nigra, amygdala and hippocampus, highest expression in hippocampus and lowest expression in basal ganglia. {ECO:0000269|PubMed:15329799}.	G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	11459929; 14574404; 15489334; 15329799
6	139569043	nonsynonymous	T	C	0.620689655172414	0.7	TXLNB	TRUE	Q8N3L3	reviewed	Beta-taxilin (Muscle-derived protein 77) (hMDP77)	TXLNB C6orf198 MDP77	4 out of 5	TISSUE SPECIFICITY: Expressed in skeletal muscle.	NA	NA	NA	15082161; 17974005; 14574404; 15489334; 15184072
6	151894567	nonsynonymous	G	A	0.518518518518518	1	CCDC170	TRUE	Q8IYT3	reviewed	Coiled-coil domain-containing protein 170	CCDC170 C6orf97	2 out of 5	NA	NA	NA	NA	14702039; 14574404; 15489334
6	152784621	nonsynonymous	T	C	0.542857142857143	1	SYNE1	TRUE	Q8NF91	reviewed	Nesprin-1 (Enaptin) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1)	SYNE1 C6orf98 KIAA0796 KIAA1262 KIAA1756 MYNE1	5 out of 5	TISSUE SPECIFICITY: Expressed in HeLa, A431, A172 and HaCaT cells (at protein level). Widely expressed. Highly expressed in skeletal and smooth muscles, heart, spleen, peripheral blood leukocytes, pancreas, cerebellum, stomach, kidney and placenta. Isoform GSRP-56 is predominantly expressed in heart and skeletal muscle (at protein level). {ECO:0000269|PubMed:11792814, ECO:0000269|PubMed:11801724, ECO:0000269|PubMed:15093733, ECO:0000269|PubMed:16875688, ECO:0000269|PubMed:22518138}.	cytoskeletal anchoring at nuclear membrane [GO:0090286]; establishment of nucleus localization [GO:0040023]; Golgi organization [GO:0007030]; muscle cell differentiation [GO:0042692]; nuclear matrix anchoring at nuclear membrane [GO:0090292]; nucleus organization [GO:0006997]	DISEASE: Spinocerebellar ataxia, autosomal recessive, 8 (SCAR8) [MIM:610743]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form. {ECO:0000269|PubMed:17159980}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4) [MIM:612998]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269|PubMed:17761684}. Note=The disease is caused by mutations affecting the gene represented in this entry.	98853;88644;319332;	11792814; 12408964; 11801724; 18709643; 15093733; 15489334; 14574404; 12808039; 14702039; 11214970; 17974005; 10574462; 9872452; 12168954; 12163176; 17081983; 16875688; 17159980; 18396275; 19690332; 22518138; 23671687; 24275569; 16959974; 17761684; 24123876; 25787250
6	161127501	nonsynonymous	A	G	0.407407407407407	0	PLG	TRUE	P00747	reviewed	Plasminogen (EC 3.4.21.7) [Cleaved into: Plasmin heavy chain A; Activation peptide; Angiostatin; Plasmin heavy chain A, short form; Plasmin light chain B]	PLG	5 out of 5	TISSUE SPECIFICITY: Present in plasma and many other extracellular fluids. It is synthesized in the liver.	blood coagulation [GO:0007596]; cellular protein metabolic process [GO:0044267]; extracellular matrix disassembly [GO:0022617]; fibrinolysis [GO:0042730]; negative regulation of cell-cell adhesion mediated by cadherin [GO:2000048]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of fibrinolysis [GO:0051918]; platelet degranulation [GO:0002576]; positive regulation of fibrinolysis [GO:0051919]; tissue remodeling [GO:0048771]	DISEASE: Plasminogen deficiency (PLGD) [MIM:217090]: A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. {ECO:0000269|PubMed:10233898, ECO:0000269|PubMed:1427790, ECO:0000269|PubMed:1986355, ECO:0000269|PubMed:6216475, ECO:0000269|PubMed:6238949, ECO:0000269|PubMed:8392398, ECO:0000269|PubMed:9242524, ECO:0000269|PubMed:9858247}. Note=The disease is caused by mutations affecting the gene represented in this entry.	722;97231;	2318848; 3030813; 14574404; 15489334; 122932; 6148961; 126863; 142009; 4694729; 4240117; 6919539; 6094526; 9201958; 3356193; 9102401; 9054441; 7525077; 9102221; 9548733; 10077593; 10889192; 14699093; 16043488; 18780401; 2143188; 19712047; 24275569; 1657148; 1657149; 8054447; 8611560; 15299951; 9783753; 9521645; 10656799; 11350170; 12054798; 12456874; 15211511; 23335990; 2157850; 8181475; 8181476; 8652577; 9305949; 1986355; 8392398; 6216475; 6238949; 1427790; 9242524; 9858247; 10233898
7	5460201	nonsynonymous	C	T	0.4375	0	TNRC18	FALSE	O15417	reviewed	Trinucleotide repeat-containing gene 18 protein (Long CAG trinucleotide repeat-containing gene 79 protein)	TNRC18 CAGL79 KIAA1856	5 out of 5	NA	chromatin silencing [GO:0006342]; heterochromatin assembly [GO:0031507]	NA	NA	12853948; 14702039; 11347906; 9225980; 17370265; 18669648; 19690332; 20068231; 23186163; 24275569
7	33028183	nonsynonymous	G	A	0.538461538461538	1	FKBP9	TRUE	O95302	reviewed	Peptidyl-prolyl cis-trans isomerase FKBP9 (PPIase FKBP9) (EC 5.2.1.8) (63 kDa FK506-binding protein) (63 kDa FKBP) (FKBP-63) (FK506-binding protein 9) (FKBP-9) (Rotamase)	FKBP9 FKBP60 FKBP63	5 out of 5	NA	chaperone-mediated protein folding [GO:0061077]; protein folding [GO:0006457]	NA	NA	14702039; 12853948; 15489334; 10524204; 12754519; 21269460
7	75045803	frameshift	CAC	CTAC	0.555555555555556	0	NSUN5P1	TRUE	Q3KNT7	reviewed	Putative NOL1/NOP2/Sun domain family member 5B (EC 2.1.1.-) (Williams-Beuren syndrome chromosomal region 20B protein)	NSUN5P1 NSUN5B WBSCR20B	3 out of 5	TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12073013}.	NA	DISEASE: Note=NSUN5P1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.	NA	12073013; 14702039; 15489334
7	75070377	nonsynonymous	T	A	0.481481481481481	0	POM121C	TRUE	A8CG34	reviewed	Nuclear envelope pore membrane protein POM 121C (Nuclear pore membrane protein 121-2) (POM121-2) (Pore membrane protein of 121 kDa C)	POM121C	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	12853948; 15489334; 17900573; 17081983; 18669648; 19690332; 20068231; 21406692; 23186163
7	91694743	nonsynonymous	A	G	0.5625	1	AKAP9	TRUE	Q99996	reviewed	A-kinase anchor protein 9 (AKAP-9) (A-kinase anchor protein 350 kDa) (AKAP 350) (hgAKAP 350) (A-kinase anchor protein 450 kDa) (AKAP 450) (AKAP 120-like protein) (Centrosome- and Golgi-localized PKN-associated protein) (CG-NAP) (Protein hyperion) (Protein kinase A-anchoring protein 9) (PRKA9) (Protein yotiao)	AKAP9 AKAP350 AKAP450 KIAA0803	5 out of 5	TISSUE SPECIFICITY: Widely expressed (PubMed:10202149). Isoform 4: Highly expressed in skeletal muscle and in pancreas (PubMed:9482789). {ECO:0000269|PubMed:10202149, ECO:0000269|PubMed:9482789}.	cardiac conduction [GO:0061337]; cellular response to cAMP [GO:0071320]; G2/M transition of mitotic cell cycle [GO:0000086]; MAPK cascade [GO:0000165]; microtubule nucleation [GO:0007020]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of potassium ion transmembrane transporter activity [GO:1901018]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane repolarization [GO:0060306]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; signal transduction [GO:0007165]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Long QT syndrome 11 (LQT11) [MIM:611820]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269|PubMed:18093912}. Note=The disease is caused by mutations affecting the gene represented in this entry.	101016;	9482789; 10202149; 10358086; 12853948; 12690205; 9915845; 9872452; 12163479; 12270714; 11799244; 15047863; 17525332; 19242490; 19690332; 21269460; 23186163; 24275569; 16959974; 18093912
7	91794308	nonsynonymous	G	A	0.444444444444444	0	CYP51A1-AS1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
7	91794308	nonsynonymous	G	A	0.444444444444444	0	LRRD1	TRUE	A4D1F6	reviewed	Leucine-rich repeat and death domain-containing protein 1	LRRD1	2 out of 5	NA	signal transduction [GO:0007165]	NA	NA	12853948; 12690205; 15489334
7	100682117	nonsynonymous	G	A	0.242424242424242	0	MUC17	TRUE	Q685J3	reviewed	Mucin-17 (MUC-17) (Small intestinal mucin-3) (MUC-3)	MUC17 MUC3	5 out of 5	TISSUE SPECIFICITY: Expressed almost exclusively in the intestine. Expression is especially high in both the duodenum and transverse colon. Expressed in mature absorptive cells of the small intestinal villi. No expression is detected in goblet cells. Highly expressed in pancreatic adenocarcinoma tissue (at protein level). Expression is not detectable in normal pancreas, in pancreatitis or in cell lines derived from other cancers. {ECO:0000269|PubMed:11855812, ECO:0000269|PubMed:16737958, ECO:0000269|PubMed:9299468}.	cellular homeostasis [GO:0019725]; O-glycan processing [GO:0016266]	NA	NA	16737958; 12853948; 9299468; 11855812; 12888891; 17990980
7	127222318	nonsynonymous	T	C	0.517241379310345	1	GCC1	TRUE	Q96CN9	reviewed	GRIP and coiled-coil domain-containing protein 1 (Golgi coiled-coil protein 1)	GCC1	5 out of 5	NA	protein targeting to Golgi [GO:0000042]	NA	NA	12446665; 15489334; 14702039; 10209125
7	127953238	nonsynonymous	G	A	0.576923076923077	0.3	RBM28	TRUE	Q9NW13	reviewed	RNA-binding protein 28 (RNA-binding motif protein 28)	RBM28	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:18439547}.	mRNA processing [GO:0006397]; RNA splicing [GO:0008380]	DISEASE: Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) [MIM:612079]: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. {ECO:0000269|PubMed:18439547}. Note=The disease is caused by mutations affecting the gene represented in this entry.	157954;	14702039; 12853948; 12690205; 15489334; 17081119; 12429849; 18669648; 21269460; 22814378; 23186163; 18439547
7	129100173	nonsynonymous	T	G	0.464285714285714	1	STRIP2	TRUE	Q9ULQ0	reviewed	Striatin-interacting protein 2 (Protein FAM40B)	STRIP2 FAM40B KIAA1170	5 out of 5	NA	cell migration [GO:0016477]; cytoskeleton organization [GO:0007010]; regulation of cell shape [GO:0008360]	NA	NA	10574461; 12853948; 15489334; 18782753; 21834987; 23186163
7	131195917	nonsynonymous	T	G	0.40625	0	PODXL	TRUE	O00592	reviewed	Podocalyxin (GCTM-2 antigen) (Gp200) (Podocalyxin-like protein 1) (PC) (PCLP-1)	PODXL PCLP PCLP1	5 out of 5	TISSUE SPECIFICITY: Glomerular epithelium cell (podocyte).	cell adhesion [GO:0007155]; cell migration [GO:0016477]; epithelial tube formation [GO:0072175]; glomerular visceral epithelial cell development [GO:0072015]; leukocyte migration [GO:0050900]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell-cell adhesion [GO:0022408]; positive regulation of cell-cell adhesion mediated by integrin [GO:0033634]; positive regulation of cell migration [GO:0030335]; regulation of microvillus assembly [GO:0032534]	NA	NA	9188463; 12853948; 12690205; 15489334; 12504081; 17616675; 18456258; 18669648; 20068231; 21269460; 21406692; 25944712
7	140267004	nonsynonymous	C	T	0.208333333333333	1	DENND2A	TRUE	Q9ULE3	reviewed	DENN domain-containing protein 2A	DENND2A KIAA1277	4 out of 5	NA	protein transport [GO:0015031]; retrograde transport, endosome to Golgi [GO:0042147]	NA	NA	10574462; 12853948; 15489334; 20937701
7	142008644	nonsynonymous	CA	TC	0.258064516129032	0	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
7	142458737	nonsynonymous	CCT	GCC	0.328358208955224	0	PRSS1	FALSE	P07477	reviewed	Trypsin-1 (EC 3.4.21.4) (Beta-trypsin) (Cationic trypsinogen) (Serine protease 1) (Trypsin I) [Cleaved into: Alpha-trypsin chain 1; Alpha-trypsin chain 2]	PRSS1 TRP1 TRY1 TRYP1	5 out of 5	NA	cobalamin metabolic process [GO:0009235]; digestion [GO:0007586]; extracellular matrix disassembly [GO:0022617]	DISEASE: Pancreatitis, hereditary (PCTT) [MIM:167800]: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks. {ECO:0000269|PubMed:10204851, ECO:0000269|PubMed:10381903, ECO:0000269|PubMed:10930381, ECO:0000269|PubMed:11073545, ECO:0000269|PubMed:11788572, ECO:0000269|PubMed:11866271, ECO:0000269|PubMed:14695529, ECO:0000269|PubMed:15776435, ECO:0000269|PubMed:8841182, ECO:0000269|PubMed:9322498, ECO:0000269|PubMed:9633818}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	676;	3011602; 8650574; 14702039; 12853948; 12690205; 15489334; 10930381; 7945238; 2598466; 8841182; 11866271; 17087724; 25010489; 8683601; 9322498; 9633818; 10381903; 10204851; 11073545; 11788572; 14695529; 15776435; 16959974
7	150644428	nonsynonymous	C	A	0.4	0	KCNH2	TRUE	Q12809	reviewed	Potassium voltage-gated channel subfamily H member 2 (Eag homolog) (Ether-a-go-go-related gene potassium channel 1) (ERG-1) (Eag-related protein 1) (Ether-a-go-go-related protein 1) (H-ERG) (hERG-1) (hERG1) (Voltage-gated potassium channel subunit Kv11.1)	KCNH2 ERG ERG1 HERG	5 out of 5	TISSUE SPECIFICITY: Highly expressed in heart and brain. Isoforms USO are frequently overexpressed in cancer cells. {ECO:0000269|PubMed:18559421}.	cardiac conduction [GO:0061337]; cardiac muscle contraction [GO:0060048]; cellular response to drug [GO:0035690]; membrane depolarization during action potential [GO:0086010]; membrane repolarization during action potential [GO:0086011]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; membrane repolarization during ventricular cardiac muscle cell action potential [GO:0098915]; negative regulation of potassium ion export [GO:1902303]; negative regulation of potassium ion transmembrane transport [GO:1901380]; positive regulation of potassium ion transmembrane transport [GO:1901381]; potassium ion export [GO:0071435]; potassium ion export across plasma membrane [GO:0097623]; potassium ion homeostasis [GO:0055075]; potassium ion transmembrane transport [GO:0071805]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of heart rate by hormone [GO:0003064]; regulation of membrane potential [GO:0042391]; regulation of membrane repolarization [GO:0060306]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; ventricular cardiac muscle cell action potential [GO:0086005]	DISEASE: Long QT syndrome 2 (LQT2) [MIM:613688]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Deafness is often associated with long QT syndrome type 2. {ECO:0000269|PubMed:10086971, ECO:0000269|PubMed:10187793, ECO:0000269|PubMed:10220144, ECO:0000269|PubMed:10517660, ECO:0000269|PubMed:10735633, ECO:0000269|PubMed:10862094, ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:11170080, ECO:0000269|PubMed:12062363, ECO:0000269|PubMed:12354768, ECO:0000269|PubMed:12442276, ECO:0000269|PubMed:12621127, ECO:0000269|PubMed:15051636, ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:16414944, ECO:0000269|PubMed:16922724, ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:22314138, ECO:0000269|PubMed:7889573, ECO:0000269|PubMed:8635257, ECO:0000269|PubMed:8877771, ECO:0000269|PubMed:8914737, ECO:0000269|PubMed:9024139, ECO:0000269|PubMed:9452080, ECO:0000269|PubMed:9544837, ECO:0000269|PubMed:9600240, ECO:0000269|PubMed:9693036}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Short QT syndrome 1 (SQT1) [MIM:609620]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO:0000269|PubMed:14676148, ECO:0000269|PubMed:15828882}. Note=The disease is caused by mutations affecting the gene represented in this entry.	51083;101016;	8159766; 9600240; 11374908; 12431979; 18559421; 19412172; 12853948; 9351462; 9351446; 10790218; 15489334; 9765245; 12063277; 10837251; 9230439; 10219239; 16361248; 19690332; 23186163; 25281747; 9845367; 7889573; 8914737; 8635257; 8877771; 9024139; 9693036; 9544837; 9452080; 10086971; 10220144; 10187793; 10517660; 10735633; 10973849; 10862094; 10753933; 11170080; 12062363; 11997281; 12442276; 12354768; 12621127; 14676148; 15051636; 15840476; 16414944; 15828882; 16922724; 19716085; 22314138
7	150932567	nonsynonymous	C	T	0.419354838709677	1	CHPF2	TRUE	Q9P2E5	reviewed	Chondroitin sulfate glucuronyltransferase (EC 2.4.1.226) (CSGlcA-T) (Chondroitin glucuronyltransferase) (Chondroitin polymerizing factor 2) (ChPF-2) (Chondroitin synthase 3) (ChSy-3) (N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase)	CHPF2 CHSY3 CSGLCAT KIAA1402 UNQ299/PRO339	5 out of 5	TISSUE SPECIFICITY: Ubiquitous. Highly expressed in placenta, small intestine and pancreas. {ECO:0000269|PubMed:12145278}.	chondroitin sulfate biosynthetic process [GO:0030206]	NA	NA	18316376; 10718198; 12975309; 15489334; 12145278
7	151810476	nonsynonymous	A	G	0.545454545454545	1	GALNT11	TRUE	Q8NCW6	reviewed	Polypeptide N-acetylgalactosaminyltransferase 11 (EC 2.4.1.41) (Polypeptide GalNAc transferase 11) (GalNAc-T11) (pp-GaNTase 11) (Protein-UDP acetylgalactosaminyltransferase 11) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11)	GALNT11	5 out of 5	TISSUE SPECIFICITY: Highly expressed in kidney. Expressed at intermediate level in brain, heart and skeletal muscle. Weakly expressed other tissues. In kidney, it is strongly expressed in tubules but not expressed in glomeruli. {ECO:0000269|PubMed:11925450}.	cilium morphogenesis [GO:0060271]; determination of left/right symmetry [GO:0007368]; Notch receptor processing [GO:0007220]; Notch signaling involved in heart development [GO:0061314]; O-glycan processing [GO:0016266]; protein O-linked glycosylation via threonine [GO:0018243]; regulation of Notch signaling pathway [GO:0008593]	DISEASE: Note=Defects in GALNT11 may be a cause of heterotaxy, a congenital heart disease resulting from abnormalities in left-right (LR) body patterning. {ECO:0000269|PubMed:21282601}.	NA	11925450; 14702039; 12853948; 15489334; 21282601; 24226769; 20547088
8	3072048	nonsynonymous	G	A	0.681818181818182	1	CSMD1	TRUE	Q96PZ7	reviewed	CUB and sushi domain-containing protein 1 (CUB and sushi multiple domains protein 1)	CSMD1 KIAA1890 UNQ5952/PRO19863	4 out of 5	TISSUE SPECIFICITY: Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, hippocampus and fetal brain. {ECO:0000269|PubMed:11572484}.	NA	NA	NA	11472063; 16751668; 12975309; 11572484; 14702039; 12696061; 14506705; 
8	11703241	nonsynonymous	C	G	0.380952380952381	1	CTSB	TRUE	P07858	reviewed	Cathepsin B (EC 3.4.22.1) (APP secretase) (APPS) (Cathepsin B1) [Cleaved into: Cathepsin B light chain; Cathepsin B heavy chain]	CTSB CPSB	5 out of 5	NA	autophagy [GO:0006914]; cellular response to mechanical stimulus [GO:0071260]; cellular response to thyroid hormone stimulus [GO:0097067]; collagen catabolic process [GO:0030574]; decidualization [GO:0046697]; epithelial cell differentiation [GO:0030855]; negative regulation of cell death [GO:0060548]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of apoptotic process [GO:0042981]; regulation of catalytic activity [GO:0050790]; response to amine [GO:0014075]; response to ethanol [GO:0045471]; response to glucose [GO:0009749]; response to interleukin-4 [GO:0070670]; response to organic cyclic compound [GO:0014070]; response to peptide hormone [GO:0043434]; response to wounding [GO:0009611]; skeletal muscle tissue development [GO:0007519]; spermatogenesis [GO:0007283]; toll-like receptor signaling pathway [GO:0002224]; viral entry into host cell [GO:0046718]	NA	NA	3463996; 8112600; 14702039; 16303743; 15489334; 3972105; 1637335; 3010323; 12643545; 17081065; 18718938; 21269460; 24275569; 25944712; 1868826; 8617355; 9299326
8	18729328	nonsynonymous	C	A	0.565217391304348	0	PSD3	TRUE	Q9NYI0	reviewed	PH and SEC7 domain-containing protein 3 (Epididymis tissue protein Li 20mP) (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6) (Hepatocellular carcinoma-associated antigen 67) (Pleckstrin homology and SEC7 domain-containing protein 3)	PSD3 EFA6R HCA67 KIAA0942	4 out of 5	TISSUE SPECIFICITY: Isoform 2 is expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.	regulation of ARF protein signal transduction [GO:0032012]	NA	NA	10231032; 12168954; 20736409; 16421571; 12097419; 15489334; 18669648; 24275569
8	59409493	nonsynonymous	G	A	0.80952380952381	0.5	CYP7A1	TRUE	P22680	reviewed	Cholesterol 7-alpha-monooxygenase (EC 1.14.14.23) (CYPVII) (Cholesterol 7-alpha-hydroxylase) (Cytochrome P450 7A1)	CYP7A1 CYP7	5 out of 5	TISSUE SPECIFICITY: Detected in liver. {ECO:0000269|PubMed:15796896}.	bile acid biosynthetic process [GO:0006699]; cellular response to cholesterol [GO:0071397]; cellular response to glucose stimulus [GO:0071333]; cholesterol catabolic process [GO:0006707]; cholesterol homeostasis [GO:0042632]; regulation of bile acid biosynthetic process [GO:0070857]; sterol metabolic process [GO:0016125]	NA	209902;	8439551; 2384150; 1610352; 15489334; 8020987; 1312351; 15796896; 19965590; 12721789
8	68334782	nonsynonymous	G	A	0.333333333333333	1	LOC102724708	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
8	68334782	nonsynonymous	G	A	0.333333333333333	1	CPA6	TRUE	Q8N4T0	reviewed	Carboxypeptidase A6 (EC 3.4.17.-)	CPA6 CPAH	5 out of 5	TISSUE SPECIFICITY: Expressed in the hippocampus, nucleus raphe, and cortex. {ECO:0000269|PubMed:21922598}.	NA	DISEASE: Note=A chromosomal aberration involving CPA6 was found in a patient with Duane retraction syndrome. Translocation t(6;8)(q26;q13).; DISEASE: Epilepsy, familial temporal lobe, 5 (ETL5) [MIM:614417]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269|PubMed:21922598}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Febrile seizures, familial, 11 (FEB11) [MIM:614418]: Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. {ECO:0000269|PubMed:21922598}. Note=The disease is caused by mutations affecting the gene represented in this entry.	165805;	11836249; 12454025; 15489334; 18178555; 20855895; 21922598
8	110477066	nonsense	C	T	0.315789473684211	1	PKHD1L1	TRUE	Q86WI1	reviewed	Fibrocystin-L (Polycystic kidney and hepatic disease 1-like protein 1) (PKHD1-like protein 1)	PKHD1L1	5 out of 5	TISSUE SPECIFICITY: Ubiquitous. Expressed in spleen and thymus as well as in activated T-cells and B-lymphoblasts. {ECO:0000269|PubMed:12620974}.	immune response [GO:0006955]	NA	NA	12620974; 16421571; 15489334; 17974005
8	113277705	nonsynonymous	T	A	0.548387096774194	1	CSMD3	TRUE	Q7Z407	reviewed	CUB and sushi domain-containing protein 3 (CUB and sushi multiple domains protein 3)	CSMD3 KIAA1894	4 out of 5	TISSUE SPECIFICITY: Weakly expressed in most tissues, except in brain. Expressed at intermediate level in brain, including cerebellum, substantia nigra, thalamus, spinal cord, hippocampus and fetal brain. Also expressed in testis. {ECO:0000269|PubMed:11572484, ECO:0000269|PubMed:12943675}.	NA	NA	NA	12906867; 12943675; 11572484; 14702039; 16959974; 21248752
8	139606427	nonsynonymous	A	T	0.555555555555556	1	COL22A1	TRUE	Q8NFW1	reviewed	Collagen alpha-1(XXII) chain	COL22A1	4 out of 5	TISSUE SPECIFICITY: Restrictive expression is observed at tissue junctions such as the myotendinous junction in skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair follicle and the dermis in the skin. It is deposited in the basement membrane zone of the myotendinous junction and the hair follicle and associated with the extrafibrillar matrix in cartilage. {ECO:0000269|PubMed:15016833}.	NA	NA	NA	15016833; 16421571; 15489334
8	139838971	nonsynonymous	C	T	0.6	1	COL22A1	TRUE	Q8NFW1	reviewed	Collagen alpha-1(XXII) chain	COL22A1	4 out of 5	TISSUE SPECIFICITY: Restrictive expression is observed at tissue junctions such as the myotendinous junction in skeletal and heart muscle, the articular cartilage-synovial fluid junction, or the border between the anagen hair follicle and the dermis in the skin. It is deposited in the basement membrane zone of the myotendinous junction and the hair follicle and associated with the extrafibrillar matrix in cartilage. {ECO:0000269|PubMed:15016833}.	NA	NA	NA	15016833; 16421571; 15489334
8	141889589	nonsynonymous	G	A	0.535714285714286	1	PTK2	TRUE	Q05397	reviewed	Focal adhesion kinase 1 (FADK 1) (EC 2.7.10.2) (Focal adhesion kinase-related nonkinase) (FRNK) (Protein phosphatase 1 regulatory subunit 71) (PPP1R71) (Protein-tyrosine kinase 2) (p125FAK) (pp125FAK)	PTK2 FAK FAK1	5 out of 5	TISSUE SPECIFICITY: Detected in B and T-lymphocytes. Isoform 1 and isoform 6 are detected in lung fibroblasts (at protein level). Ubiquitous. {ECO:0000269|PubMed:20109444, ECO:0000269|PubMed:7692878, ECO:0000269|PubMed:8247543, ECO:0000269|PubMed:8422239}.	angiogenesis [GO:0001525]; axon guidance [GO:0007411]; cell motility [GO:0048870]; cellular component disassembly involved in execution phase of apoptosis [GO:0006921]; central nervous system neuron axonogenesis [GO:0021955]; embryo development [GO:0009790]; endothelial cell migration [GO:0043542]; ephrin receptor signaling pathway [GO:0048013]; epidermal growth factor receptor signaling pathway [GO:0007173]; establishment of cell polarity [GO:0030010]; establishment of nucleus localization [GO:0040023]; extracellular matrix organization [GO:0030198]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; growth hormone receptor signaling pathway [GO:0060396]; heart morphogenesis [GO:0003007]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; MAPK cascade [GO:0000165]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of anoikis [GO:2000811]; negative regulation of apoptotic process [GO:0043066]; negative regulation of axonogenesis [GO:0050771]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of organ growth [GO:0046621]; negative regulation of synapse assembly [GO:0051964]; netrin-activated signaling pathway [GO:0038007]; neuron migration [GO:0001764]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; placenta development [GO:0001890]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process [GO:2000060]; protein autophosphorylation [GO:0046777]; regulation of cell adhesion mediated by integrin [GO:0033628]; regulation of cell proliferation [GO:0042127]; regulation of cell shape [GO:0008360]; regulation of cytoskeleton organization [GO:0051493]; regulation of endothelial cell migration [GO:0010594]; regulation of epithelial cell migration [GO:0010632]; regulation of focal adhesion assembly [GO:0051893]; regulation of GTPase activity [GO:0043087]; regulation of osteoblast differentiation [GO:0045667]; regulation of protein phosphorylation [GO:0001932]; regulation of substrate adhesion-dependent cell spreading [GO:1900024]; signal complex assembly [GO:0007172]; transforming growth factor beta receptor signaling pathway [GO:0007179]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]; vasculogenesis [GO:0001570]	DISEASE: Note=Aberrant PTK2/FAK1 expression may play a role in cancer cell proliferation, migration and invasion, in tumor formation and metastasis. PTK2/FAK1 overexpression is seen in many types of cancer.	NA	7692878; 8422239; 14702039; 16421571; 15489334; 8247543; 9422762; 9756887; 10655584; 11331870; 11980671; 12221124; 12387730; 15166238; 15561106; 15855171; 15895076; 16452200; 17081983; 16998626; 16964243; 18006843; 17395594; 16927379; 17431114; 18497331; 18292575; 18256281; 18206965; 18657504; 18691976; 18669648; 19413330; 19339212; 19138410; 19787193; 19494199; 19147981; 19118217; 19369195; 20495381; 19917054; 20109444; 20439989; 20037584; 20068231; 21269460; 21454698; 23186163; 23503467; 10354709; 15725728; 16919435; 17968709; 18677107; 19525103; 19224453; 20515733; 20552554; 20101634; 20332118; 21482413; 23509069; 12005431; 12467573; 14527389; 18339875; 18078954; 17344846
8	144403487	nonsynonymous	G	A	0.590909090909091	1	TOP1MT	TRUE	Q969P6	reviewed	DNA topoisomerase I, mitochondrial (TOP1mt) (EC 5.99.1.2)	TOP1MT	5 out of 5	TISSUE SPECIFICITY: Ubiquitous; highest in skeletal muscle, heart, brain and fetal liver. {ECO:0000269|PubMed:11526219}.	DNA replication [GO:0006260]; DNA topological change [GO:0006265]	NA	NA	11526219; 14702039; 16421571; 15489334
8	145580028	nonsynonymous	A	G	0.384615384615385	1	FBXL6	TRUE	Q8N531	reviewed	F-box/LRR-repeat protein 6 (F-box and leucine-rich repeat protein 6) (F-box protein FBL6) (FBL6A)	FBXL6 FBL6	3 out of 5	NA	proteolysis [GO:0006508]	NA	NA	14702039; 15489334; 10531035
9	2096706	nonsynonymous	A	T	0.518518518518518	1	SMARCA2	TRUE	P51531	reviewed	Probable global transcription activator SNF2L2 (EC 3.6.4.-) (ATP-dependent helicase SMARCA2) (BRG1-associated factor 190B) (BAF190B) (Protein brahma homolog) (hBRM) (SNF2-alpha) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2)	SMARCA2 BAF190B BRM SNF2A SNF2L2	5 out of 5	NA	chromatin remodeling [GO:0006338]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; nervous system development [GO:0007399]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; regulation of transcription from RNA polymerase II promoter [GO:0006357]; spermatid development [GO:0007286]	DISEASE: Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]: A rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. {ECO:0000269|PubMed:22366787, ECO:0000269|PubMed:22426308}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269|PubMed:19363039}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.	3051;	8223438; 8208605; 15164053; 15075294; 15107404; 17081983; 17525332; 18765789; 18669648; 18318008; 19363039; 19690332; 19608861; 20111005; 20068231; 21269460; 22426308; 23186163; 24275569; 22366787
9	4117933	nonsynonymous	C	G	0.565217391304348	1	GLIS3	TRUE	Q8NEA6	reviewed	Zinc finger protein GLIS3 (GLI-similar 3) (Zinc finger protein 515)	GLIS3 ZNF515	4 out of 5	TISSUE SPECIFICITY: In the adult, expressed at high levels in the kidney and at lower levels in the brain, skeletal muscle, pancreas, liver, lung, thymus and ovary. {ECO:0000269|PubMed:14500813}.	negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; transcription from RNA polymerase II promoter [GO:0006366]	DISEASE: Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH) [MIM:610199]: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. {ECO:0000269|PubMed:16715098, ECO:0000269|PubMed:21139041}. Note=The disease is caused by mutations affecting the gene represented in this entry.	79118;	15164053; 15489334; 16715098; 14500813; 21139041
9	4663252	nonsynonymous	A	C	0.56	1	SPATA6L	FALSE	Q8N4H0	reviewed	Spermatogenesis associated 6-like protein	SPATA6L C9orf68	2 out of 5	NA	NA	NA	NA	14702039; 15164053; 15489334
9	4663252	nonsynonymous	A	C	0.56	1	PLPP6	TRUE	Q8IY26	reviewed	Phospholipid phosphatase 6 (EC 3.1.3.-) (Phosphatidic acid phosphatase type 2 domain-containing protein 2) (PPAP2 domain-containing protein 2) (Presqualene diphosphate phosphatase)	PLPP6 PPAPDC2	3 out of 5	TISSUE SPECIFICITY: Widely expressed. Expressed in most organs, in particular gastrointestinal organs, spleen, placenta, kidney, thymus and brain. {ECO:0000269|PubMed:16464866}.	NA	NA	NA	14702039; 15164053; 15489334; 16464866; 21269460; 24275569
9	5921881	nonsynonymous	G	A	0.551724137931034	0.1	KIAA2026	TRUE	Q5HYC2	reviewed	Uncharacterized protein KIAA2026	KIAA2026	2 out of 5	NA	NA	NA	NA	15164053; 17974005; 15489334; 
9	14116327	nonsynonymous	C	G	0.576923076923077	1	NFIB	TRUE	O00712	reviewed	Nuclear factor 1 B-type (NF1-B) (Nuclear factor 1/B) (CCAAT-box-binding transcription factor) (CTF) (Nuclear factor I/B) (NF-I/B) (NFI-B) (TGGCA-binding protein)	NFIB	5 out of 5	NA	anterior commissure morphogenesis [GO:0021960]; cell differentiation involved in salivary gland development [GO:0060689]; chondrocyte differentiation [GO:0002062]; Clara cell differentiation [GO:0060486]; commissural neuron axon guidance [GO:0071679]; DNA replication [GO:0006260]; glial cell differentiation [GO:0010001]; hindbrain development [GO:0030902]; lung ciliated cell differentiation [GO:0061141]; negative regulation of DNA binding [GO:0043392]; negative regulation of epithelial cell proliferation involved in lung morphogenesis [GO:2000795]; negative regulation of mesenchymal cell proliferation involved in lung development [GO:2000791]; negative regulation of pri-miRNA transcription from RNA polymerase II promoter [GO:1902894]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; principal sensory nucleus of trigeminal nerve development [GO:0021740]; salivary gland cavitation [GO:0060662]; Type II pneumocyte differentiation [GO:0060510]; Type I pneumocyte differentiation [GO:0060509]	NA	NA	9484777; 9099724; 14702039; 17974005; 15164053; 15489334; 7590749; 18669648; 20068231; 23186163; 24275569
9	32500832	nonsynonymous	C	T	0.321428571428571	1	DDX58	TRUE	O95786	reviewed	Probable ATP-dependent RNA helicase DDX58 (EC 3.6.4.13) (DEAD box protein 58) (RIG-I-like receptor 1) (RLR-1) (Retinoic acid-inducible gene 1 protein) (RIG-1) (Retinoic acid-inducible gene I protein) (RIG-I)	DDX58	5 out of 5	TISSUE SPECIFICITY: Present in vascular smooth cells (at protein level). {ECO:0000269|PubMed:15219805}.	cytoplasmic pattern recognition receptor signaling pathway in response to virus [GO:0039528]; detection of virus [GO:0009597]; innate immune response [GO:0045087]; negative regulation of type I interferon production [GO:0032480]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of gene expression [GO:0010628]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of sequence-specific DNA binding transcription factor activity [GO:0051091]; positive regulation of transcription factor import into nucleus [GO:0042993]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; regulation of cell migration [GO:0030334]; regulation of type III interferon production [GO:0034344]; response to exogenous dsRNA [GO:0043330]; response to virus [GO:0009615]; RIG-I signaling pathway [GO:0039529]; viral process [GO:0016032]	DISEASE: Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]: A form of Singleton-Merten syndrome, an autosomal dominant disorder characterized by marked aortic calcification, dental anomalies, osteopenia, acro-osteolysis, and to a lesser extend glaucoma, psoriasis, muscle weakness, and joint laxity. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments. SGMRT2 is an atypical form characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. {ECO:0000269|PubMed:25620203}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	11890704; 15164053; 15489334; 17974005; 15181474; 15219805; 15208624; 16125763; 16281057; 15708988; 16153868; 16127453; 16009940; 17392790; 17190814; 18636086; 18057259; 18724357; 19631370; 19576794; 19017631; 19122199; 19211564; 19419966; 19193793; 19609254; 19484123; 19608861; 20434986; 20368735; 21175414; 20007272; 21269460; 21616437; 21884169; 21742966; 21813773; 20950133; 21068236; 21791617; 21102435; 22152002; 22301138; 23399697; 23843640; 24755855; 25620203; 18243112; 18242112; 25018021
9	35555458	nonsynonymous	G	A	0.451612903225806	1	RUSC2	TRUE	Q8N2Y8	reviewed	Iporin (Interacting protein of Rab1) (RUN and SH3 domain-containing protein 2)	RUSC2 KIAA0375	4 out of 5	TISSUE SPECIFICITY: Widely expressed, with highest levels in brain and testis. {ECO:0000269|PubMed:15796781}.	NA	NA	NA	9205841; 15164053; 15489334; 15796781; 17081983; 18220336; 18669648; 23186163
9	78973431	nonsynonymous	G	A	0.391304347826087	1	PCSK5	TRUE	Q92824	reviewed	Proprotein convertase subtilisin/kexin type 5 (EC 3.4.21.-) (Proprotein convertase 5) (PC5) (Proprotein convertase 6) (PC6) (hPC6) (Subtilisin/kexin-like protease PC5)	PCSK5 PC5 PC6	5 out of 5	TISSUE SPECIFICITY: Expressed in T-lymphocytes.	anterior/posterior pattern specification [GO:0009952]; cardiac septum development [GO:0003279]; cell-cell signaling [GO:0007267]; coronary vasculature development [GO:0060976]; cytokine biosynthetic process [GO:0042089]; determination of left/right symmetry [GO:0007368]; embryo implantation [GO:0007566]; embryonic digestive tract development [GO:0048566]; embryonic skeletal system development [GO:0048706]; heart development [GO:0007507]; kidney development [GO:0001822]; limb morphogenesis [GO:0035108]; nerve growth factor processing [GO:0032455]; peptide biosynthetic process [GO:0043043]; peptide hormone processing [GO:0016486]; protein processing [GO:0016485]; renin secretion into blood stream [GO:0002001]; respiratory tube development [GO:0030323]; signal peptide processing [GO:0006465]; viral life cycle [GO:0019058]	NA	NA	8755538; 17974005; 15164053; 15489334; 14702039; 19764806; 20555025; 22740495
9	79930342	nonsynonymous	C	G	0.529411764705882	0	VPS13A	TRUE	Q96RL7	reviewed	Vacuolar protein sorting-associated protein 13A (Chorea-acanthocytosis protein) (Chorein)	VPS13A CHAC KIAA0986	5 out of 5	TISSUE SPECIFICITY: Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.	autophagy [GO:0006914]; Golgi to endosome transport [GO:0006895]; locomotory behavior [GO:0007626]; nervous system development [GO:0007399]; protein localization [GO:0008104]; protein retention in Golgi apparatus [GO:0045053]; protein targeting to vacuole [GO:0006623]; social behavior [GO:0035176]	DISEASE: Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. {ECO:0000269|PubMed:11381253, ECO:0000269|PubMed:12404112}. Note=The disease is caused by mutations affecting the gene represented in this entry.	2388;	11381253; 11381254; 15498460; 15164053; 10231032; 15489334; 14702039; 18669648; 23186163; 24275569; 12404112; 16959974
9	80863212	nonsynonymous	T	C	0.518518518518518	0.6	CEP78	TRUE	Q5JTW2	reviewed	Centrosomal protein of 78 kDa (Cep78)	CEP78 C9orf81	3 out of 5	NA	G2/M transition of mitotic cell cycle [GO:0000086]	NA	NA	15164053; 15489334; 14702039; 14654843; 19413330; 22814378; 23186163
9	84529319	nonsense	C	T	0.5	0	SPATA31D5P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
9	84609162	nonsynonymous	G	C	0.5	0	SPATA31D1	TRUE	Q6ZQQ2	reviewed	Spermatogenesis-associated protein 31D1 (Protein FAM75D1)	SPATA31D1 FAM75D1	2 out of 5	NA	cell differentiation [GO:0030154]; spermatogenesis [GO:0007283]	NA	NA	14702039; 
9	114090401	nonsynonymous	G	A	0.476190476190476	0	OR2K2	TRUE	Q8NGT1	reviewed	Olfactory receptor 2K2 (HTPCRH06) (Olfactory receptor OR9-17)	OR2K2 OR2AR1P	4 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]	NA	NA	15164053; 15489334; 14983052
9	123908511	nonsynonymous	A	G	0.590909090909091	1	CNTRL	TRUE	Q7Z7A1	reviewed	Centriolin (Centrosomal protein 1) (Centrosomal protein of 110 kDa) (Cep110)	CNTRL CEP1 CEP110	5 out of 5	TISSUE SPECIFICITY: Highly expressed in testis and trachea. {ECO:0000269|PubMed:10688839}.	cell division [GO:0051301]; G2/M transition of mitotic cell cycle [GO:0000086]	DISEASE: Note=A chromosomal aberration involving CEP110 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity.	NA	10688839; 12732615; 17974005; 15164053; 15489334; 16112646; 12693554; 11956314; 16213214; 17140400; 23186163
9	125239501	nonsense	G	T	0.5	0	OR1J1	TRUE	Q8NGS3	reviewed	Olfactory receptor 1J1 (Olfactory receptor OR9-18)	OR1J1	3 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	15164053; 15489334; 12213199; 14983052
9	129937020	nonsynonymous	G	A	0.533333333333333	1	RALGPS1	TRUE	Q5JS13	reviewed	Ras-specific guanine nucleotide-releasing factor RalGPS1 (Ral GEF with PH domain and SH3-binding motif 1) (Ral guanine nucleotide exchange factor 2) (RalGEF 2) (RalA exchange factor RalGPS1)	RALGPS1 KIAA0351 RALGEF2	5 out of 5	TISSUE SPECIFICITY: Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lower levels in brain, pancreas, skeletal muscle, small intestine and thymus. {ECO:0000269|PubMed:10747847, ECO:0000269|PubMed:10889189}.	intracellular signal transduction [GO:0035556]; regulation of Ral protein signal transduction [GO:0032485]; small GTPase mediated signal transduction [GO:0007264]	NA	NA	10747847; 9205841; 14702039; 15164053; 15489334; 10889189; 21494904
9	131295875	nonsynonymous	G	A	0.40625	1	MIR1268A	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
9	131295875	nonsynonymous	G	A	0.40625	1	GLE1	TRUE	Q53GS7	reviewed	Nucleoporin GLE1 (hGLE1) (GLE1-like protein)	GLE1 GLE1L	5 out of 5	NA	mRNA export from nucleus [GO:0006406]; poly(A)+ mRNA export from nucleus [GO:0016973]; protein transport [GO:0015031]; regulation of translational initiation [GO:0006446]; regulation of translational termination [GO:0006449]	DISEASE: Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. {ECO:0000269|PubMed:18204449}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]: A disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe. {ECO:0000269|PubMed:18204449}. Note=The disease is caused by mutations affecting the gene represented in this entry.	53696;1486;	9618489; 15164053; 15489334; 17974005; 12668658; 14645504; 16000379; 19690332; 20068231; 23186163; 18204449
9	138683984	nonsynonymous	A	G	0.5	1	KCNT1	TRUE	Q5JUK3	reviewed	Potassium channel subfamily T member 1 (KCa4.1)	KCNT1 KIAA1422	5 out of 5	TISSUE SPECIFICITY: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle. {ECO:0000269|PubMed:10718198}.	NA	DISEASE: Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. {ECO:0000269|PubMed:23086397}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]: An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. {ECO:0000269|PubMed:23086396}. Note=The disease is caused by mutations affecting the gene represented in this entry.	98784;293181;	14702039; 15164053; 15489334; 10718198; 20512134; 23086396; 23086397
9	139333403	nonsynonymous	C	A	0.590909090909091	0.3	INPP5E	TRUE	Q9NRR6	reviewed	72 kDa inositol polyphosphate 5-phosphatase (EC 3.1.3.36) (Phosphatidylinositol 4,5-bisphosphate 5-phosphatase) (Phosphatidylinositol polyphosphate 5-phosphatase type IV)	INPP5E	5 out of 5	TISSUE SPECIFICITY: Detected in brain, heart, pancreas, testis and spleen. {ECO:0000269|PubMed:10764818}.	inositol phosphate dephosphorylation [GO:0046855]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; positive regulation of neuron projection development [GO:0010976]	DISEASE: Joubert syndrome 1 (JBTS1) [MIM:213300]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269|PubMed:19668216}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. {ECO:0000269|PubMed:19668215}. Note=The disease is caused by mutations affecting the gene represented in this entry.	475;1454;220493;75858;	10764818; 15164053; 15489334; 17525332; 19668215; 19668216; 23186163; 24166846; 
9	139658350	nonsynonymous	C	T	0.411764705882353	0	LCN15	TRUE	Q6UWW0	reviewed	Lipocalin-15	LCN15 UNQ2541/PRO6093	2 out of 5	NA	lipid metabolic process [GO:0006629]	NA	NA	12975309; 15164053; 15489334; 
9	139840596	nonsynonymous	G	A	0.551724137931034	0.6	C8G	TRUE	P07360	reviewed	Complement component C8 gamma chain	C8G	5 out of 5	NA	complement activation, alternative pathway [GO:0006957]; complement activation, classical pathway [GO:0006958]; cytolysis [GO:0019835]; regulation of complement activation [GO:0030449]	NA	169150;	3676249; 2447883; 8172891; 15164053; 15489334; 2446620; 1707134; 11058761; 24275569; 12033936; 17452033; 17692377
9	140093903	nonsynonymous	G	A	0.392857142857143	0	TPRN	TRUE	Q4KMQ1	reviewed	Taperin	TPRN C9orf75	3 out of 5	TISSUE SPECIFICITY: Expression is detected in fetal cochlea. {ECO:0000269|PubMed:20170898}.	sensory perception of sound [GO:0007605]	DISEASE: Deafness, autosomal recessive, 79 (DFNB79) [MIM:613307]: A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. {ECO:0000269|PubMed:20170898, ECO:0000269|PubMed:20170899}. Note=The disease is caused by mutations affecting the gene represented in this entry.	90636;	14702039; 15164053; 15489334; 17081983; 18669648; 20170899; 20170898; 20068231; 21406692; 23186163
10	26377331	nonsynonymous	C	T	0.419354838709677	1	MYO3A	TRUE	Q8NEV4	reviewed	Myosin-IIIa (EC 2.7.11.1)	MYO3A	5 out of 5	TISSUE SPECIFICITY: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.	protein autophosphorylation [GO:0046777]; response to stimulus [GO:0050896]; sensory perception of sound [GO:0007605]; visual perception [GO:0007601]	DISEASE: Deafness, autosomal recessive, 30 (DFNB30) [MIM:607101]: A form of non-syndromic deafness characterized by bilateral progressive hearing loss, which first affects the high frequencies. Hearing loss begins in the second decade, and by age 50 is severe in high and middle frequencies and moderate at low frequencies. {ECO:0000269|PubMed:12032315}. Note=The disease is caused by mutations affecting the gene represented in this entry.	90636;	10936054; 12032315; 15164054; 15489334; 17344846
10	49219100	nonsynonymous	T	C	0.941176470588235	0.6	AGAP12P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
10	49447720	nonsynonymous	G	A	0.625	0.2	FRMPD2	TRUE	Q68DX3	reviewed	FERM and PDZ domain-containing protein 2 (PDZ domain-containing protein 4) (PDZ domain-containing protein 5C)	FRMPD2 PDZD5C PDZK4 PDZK5C	5 out of 5	TISSUE SPECIFICITY: Expressed in epithelial cells. {ECO:0000269|PubMed:19706687}.	bicellular tight junction assembly [GO:0070830]	NA	NA	14702039; 17974005; 15164054; 15489334; 19706687; 16959974; 22068589
10	70856963	nonsynonymous	C	G	0.590909090909091	0	SRGN	TRUE	P10124	reviewed	Serglycin (Hematopoietic proteoglycan core protein) (Platelet proteoglycan core protein) (P.PG) (Secretory granule proteoglycan core protein)	SRGN PRG PRG1	5 out of 5	NA	biomineral tissue development [GO:0031214]; granzyme-mediated apoptotic signaling pathway [GO:0008626]; maintenance of granzyme B location in T cell secretory granule [GO:0033382]; maintenance of protease location in mast cell secretory granule [GO:0033373]; mast cell secretory granule organization [GO:0033364]; negative regulation of bone mineralization [GO:0030502]; negative regulation of cytokine secretion [GO:0050710]; platelet degranulation [GO:0002576]; protease localization to mast cell secretory granule [GO:0033368]; protein processing [GO:0016485]; T cell secretory granule organization [GO:0033371]	NA	NA	2835370; 2798108; 2180935; 1377686; 14702039; 15164054; 15489334; 3402609; 3214420; 11154222; 11911826; 12388539; 15136585; 16420477; 16870619
10	75434973	nonsynonymous	T	C	0.4	1	AGAP5	TRUE	A6NIR3	reviewed	Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 (AGAP-5) (Centaurin-gamma-like family member 2)	AGAP5 CTGLF2	2 out of 5	NA	NA	NA	NA	15164054; 15489334
10	81850607	nonsynonymous	C	A	0.483870967741935	0.6	TMEM254	TRUE	Q8TBM7	reviewed	Transmembrane protein 254	TMEM254 C10orf57	2 out of 5	NA	NA	NA	NA	14702039; 15164054; 15489334; 22814378
10	81925866	nonsynonymous	T	C	0.444444444444444	0.9	ANXA11	TRUE	P50995	reviewed	Annexin A11 (56 kDa autoantigen) (Annexin XI) (Annexin-11) (Calcyclin-associated annexin 50) (CAP-50)	ANXA11 ANX11	5 out of 5	NA	cell cycle [GO:0007049]; cell division [GO:0051301]; phagocytosis [GO:0006909]; response to calcium ion [GO:0051592]	NA	NA	7508441; 11013079; 14702039; 15164054; 15489334; 11883939; 12601007; 12805373; 15197175; 17081065; 18256029; 19608861; 21269460; 24275569; 25944712
10	104899197	nonsynonymous	C	G	0.5	1	NT5C2	TRUE	P49902	reviewed	Cytosolic purine 5'-nucleotidase (EC 3.1.3.5) (Cytosolic 5'-nucleotidase II)	NT5C2 NT5B NT5CP PNT5	5 out of 5	NA	adenosine metabolic process [GO:0046085]; drug metabolic process [GO:0017144]; IMP metabolic process [GO:0046040]; purine nucleotide catabolic process [GO:0006195]	DISEASE: Spastic paraplegia 45, autosomal recessive (SPG45) [MIM:613162]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest mental retardation, contractures and learning disability. {ECO:0000269|PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.	320396;	7999131; 14702039; 15164054; 15489334; 18669648; 21269460; 23186163; 24482476; 17405878
10	115364585	nonsynonymous	A	G	0.424242424242424	1	NRAP	TRUE	Q86VF7	reviewed	Nebulin-related-anchoring protein (N-RAP)	NRAP	5 out of 5	TISSUE SPECIFICITY: Expressed in cardiac and skeletal muscle. {ECO:0000269|PubMed:12789664}.	NA	NA	NA	12789664; 17974005; 15164054; 14702039; 15489334; 9339382; 
10	123845115	nonsynonymous	G	A	0.375	0.2	TACC2	TRUE	O95359	reviewed	Transforming acidic coiled-coil-containing protein 2 (Anti-Zuai-1) (AZU-1)	TACC2	5 out of 5	TISSUE SPECIFICITY: Strongly expressed in heart, skeletal muscle, brain, prostate, thyroid and trachea. {ECO:0000269|PubMed:11161455, ECO:0000269|PubMed:12620397}.	cell proliferation [GO:0008283]; cerebral cortex development [GO:0021987]; microtubule cytoskeleton organization [GO:0000226]	NA	NA	10749935; 11121038; 12620397; 15164054; 15489334; 11161455; 17974005; 15304323; 14767476; 17081983; 16964243; 18669648; 20068231; 21269460; 21406692; 23186163; 24275569; 16959974
11	299471	nonsynonymous	C	T	0.461538461538462	1	IFITM5	TRUE	A6NNB3	reviewed	Interferon-induced transmembrane protein 5 (Bone-restricted interferon-induced transmembrane protein-like protein) (BRIL) (Dispanin subfamily A member 1) (DSPA1)	IFITM5	5 out of 5	TISSUE SPECIFICITY: Detected in bone (PubMed:24058703). Detected in osteoblasts and fibroblasts (at protein level) (PubMed:24519609). Detected in bone (PubMed:24058703). Detected in osteoblasts and fibroblasts (PubMed:24519609). {ECO:0000269|PubMed:24058703, ECO:0000269|PubMed:24519609}.	bone mineralization [GO:0030282]; bone morphogenesis [GO:0060349]; in utero embryonic development [GO:0001701]; regulation of bone mineralization [GO:0030500]; response to biotic stimulus [GO:0009607]	DISEASE: Osteogenesis imperfecta 5 (OI5) [MIM:610967]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. {ECO:0000269|PubMed:22863190}. Note=The disease is caused by mutations affecting the gene represented in this entry.	216828;	15489334; 22863190; 22363774; 24058703; 24519609
11	6424610	nonsynonymous	T	C	0.5	1	APBB1	TRUE	O00213	reviewed	Amyloid beta A4 precursor protein-binding family B member 1 (Protein Fe65)	APBB1 FE65 RIR	5 out of 5	TISSUE SPECIFICITY: Highly expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease. {ECO:0000269|PubMed:19343227}.	apoptotic process [GO:0006915]; axonogenesis [GO:0007409]; cell cycle arrest [GO:0007050]; cellular response to DNA damage stimulus [GO:0006974]; double-strand break repair [GO:0006302]; histone H4 acetylation [GO:0043967]; negative regulation of cell growth [GO:0030308]; negative regulation of thymidylate synthase biosynthetic process [GO:0050760]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA repair [GO:0045739]; positive regulation of neuron projection development [GO:0010976]; positive regulation of protein secretion [GO:0050714]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; response to iron ion [GO:0010039]; signal transduction [GO:0007165]; transcription, DNA-templated [GO:0006351]	NA	NA	8894693; 9799084; 21824145; 14702039; 17974005; 16554811; 15489334; 15031292; 17512906; 18468999; 18922798; 19234442; 19343227; 17686488; 18833287; 18550529
11	10582240	nonsynonymous	A	G	0.464285714285714	0	MRVI1-AS1	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	10582240	nonsynonymous	A	G	0.464285714285714	0	LYVE1	TRUE	Q9Y5Y7	reviewed	Lymphatic vessel endothelial hyaluronic acid receptor 1 (LYVE-1) (Cell surface retention sequence-binding protein 1) (CRSBP-1) (Extracellular link domain-containing protein 1) (Hyaluronic acid receptor)	LYVE1 CRSBP1 HAR XLKD1 UNQ230/PRO263	5 out of 5	TISSUE SPECIFICITY: Mainly expressed in endothelial cells lining lymphatic vessels. {ECO:0000269|PubMed:10037799}.	anatomical structure morphogenesis [GO:0009653]; cell-matrix adhesion [GO:0007160]; hyaluronan catabolic process [GO:0030214]; movement of cell or subcellular component [GO:0006928]; response to wounding [GO:0009611]; transport [GO:0006810]	NA	NA	10037799; 12975309; 15489334; 16335952; 19159218
11	13032055	nonsynonymous	C	A	0.423076923076923	1	RASSF10	TRUE	A6NK89	reviewed	Ras association domain-containing protein 10	RASSF10	3 out of 5	TISSUE SPECIFICITY: Expressed in brain. Tends to be down-regulated in astrocytic gliomas due to promoter methylation. Methylation occurs early in gliomagenesis and the extent of methylation parallels with higher glioma grades, so that methylation is observed in close to 70% WHO grade IV primary glioblastomas, but not in grade I astrocytomas. {ECO:0000269|PubMed:20956940}.	signal transduction [GO:0007165]	NA	NA	16554811; 18272789; 20956940
11	18253104	nonsynonymous	C	T	0.482758620689655	0.7	SAA2-SAA4	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	18253104	nonsynonymous	C	T	0.482758620689655	0.7	SAA4	TRUE	P35542	reviewed	Serum amyloid A-4 protein (Constitutively expressed serum amyloid A protein) (C-SAA)	SAA4 CSAA	4 out of 5	TISSUE SPECIFICITY: Expressed by the liver; secreted in plasma.	acute-phase response [GO:0006953]; cell chemotaxis [GO:0060326]	NA	NA	1740433; 7686132; 1439582; 16554811; 15489334; 8783012; 16335952; 19159218; 22028381
11	55322818	nonsense	G	T	0.35	1	OR4C15	TRUE	Q8NGM1	reviewed	Olfactory receptor 4C15 (Olfactory receptor OR11-127) (Olfactory receptor OR11-134)	OR4C15	3 out of 5	NA	detection of chemical stimulus involved in sensory perception [GO:0050907]; G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	16554811; 14983052
11	56143898	nonsynonymous	GCCCTGGACA	TCTCTTGATG	0.378378378378378	0	OR8U8	FALSE	P0C7N1	reviewed	Olfactory receptor 8U8	OR8U8	3 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	NA
11	56143898	nonsynonymous	GCCCTGGACA	TCTCTTGATG	0.378378378378378	0	OR8U1	TRUE	Q8NH10	reviewed	Olfactory receptor 8U1	OR8U1	4 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	NA
11	60971041	nonsynonymous	A	G	0.619047619047619	1	PGA3	TRUE	P0DJD8	reviewed	Pepsin A-3 (EC 3.4.23.1) (Pepsinogen-3)	PGA3	5 out of 5	NA	cellular protein metabolic process [GO:0044267]; digestion [GO:0007586]	NA	NA	14702039; 16554811; 15489334; 2415509; 2515193; 3197840; 4909888; 6300126; 2714789; 7663352
11	61313545	nonsynonymous	G	A	0.470588235294118	1	SYT7	TRUE	O43581	reviewed	Synaptotagmin-7 (IPCA-7) (Prostate cancer-associated protein 7) (Synaptotagmin VII) (SytVII)	SYT7 PCANAP7	5 out of 5	TISSUE SPECIFICITY: Expressed in a variety of adult and fetal tissues.	calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; calcium ion regulated lysosome exocytosis [GO:1990927]; phagocytosis [GO:0006909]; phagosome-lysosome fusion [GO:0090385]; plasma membrane repair [GO:0001778]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; regulation of bone remodeling [GO:0046850]; regulation of calcium ion-dependent exocytosis [GO:0017158]; regulation of glucagon secretion [GO:0070092]; regulation of insulin secretion [GO:0050796]; regulation of phagocytosis [GO:0050764]; synaptic vesicle recycling [GO:0036465]; vesicle fusion [GO:0006906]; vesicle-mediated cholesterol transport [GO:0090119]	NA	NA	9615227; 16554811; 15489334; 11342594; 12071850; 15811535; 22966849; 25437758; 26322740; 26333120; 
11	65386523	nonsynonymous	G	A	0.416666666666667	1	PCNX3	TRUE	Q9H6A9	reviewed	Pecanex-like protein 3 (Pecanex homolog protein 3)	PCNX3 PCNXL3	3 out of 5	NA	NA	NA	NA	17974005; 16554811; 14702039; 20068231; 23186163
11	71146837	nonsynonymous	C	T	0.545454545454545	0	DHCR7	TRUE	Q9UBM7	reviewed	7-dehydrocholesterol reductase (7-DHC reductase) (EC 1.3.1.21) (Putative sterol reductase SR-2) (Sterol Delta(7)-reductase)	DHCR7 D7SR	5 out of 5	TISSUE SPECIFICITY: Most abundant in adrenal gland, liver, testis, and brain. {ECO:0000269|PubMed:9878250}.	blood vessel development [GO:0001568]; cell differentiation [GO:0030154]; cholesterol biosynthetic process [GO:0006695]; cholesterol biosynthetic process via desmosterol [GO:0033489]; cholesterol biosynthetic process via lathosterol [GO:0033490]; lung development [GO:0030324]; multicellular organism growth [GO:0035264]; post-embryonic development [GO:0009791]; regulation of cell proliferation [GO:0042127]; regulation of cholesterol biosynthetic process [GO:0045540]	DISEASE: Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS. {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:10995508, ECO:0000269|PubMed:11175299, ECO:0000269|PubMed:11427181, ECO:0000269|PubMed:12949967, ECO:0000269|PubMed:15954111, ECO:0000269|PubMed:9653161, ECO:0000269|PubMed:9683613}. Note=The disease is caused by mutations affecting the gene represented in this entry.	818;	9683613; 9465114; 9878250; 14702039; 15489334; 9634533; 18691976; 19369195; 19690332; 20068231; 21269460; 21406692; 22814378; 23186163; 24275569; 25944712; 9653161; 10677299; 10995508; 11427181; 11175299; 12949967; 15954111; 25787250
11	74570248	nonsynonymous	G	C	0.482758620689655	1	XRRA1	FALSE	Q6P2D8	reviewed	X-ray radiation resistance-associated protein 1	XRRA1	4 out of 5	TISSUE SPECIFICITY: Expressed predominantly in testis followed by prostate and ovary. Low levels found in other tissues including peripheral blood leukocytes, spleen, thymus, small intestine and colon. Also expressed in neuroblastoma, glioma, breast, lung, leukemia, renal, ovarian, prostate and colorectal cancer cell lines. {ECO:0000269|PubMed:12908878}.	response to X-ray [GO:0010165]	NA	NA	16554811; 15489334; 12908878; 
11	102565820	nonsynonymous	C	A	0.628571428571429	1	MMP27	TRUE	Q9H306	reviewed	Matrix metalloproteinase-27 (MMP-27) (EC 3.4.24.-)	MMP27 UNQ2503/PRO5992	5 out of 5	TISSUE SPECIFICITY: Expressed in B-cells (PubMed:14506071). Expressed in a subset of endometrial macrophages related to menstruation and in ovarian and peritoneal endometriotic lesions (at protein level)(PubMed:24810263). {ECO:0000269|PubMed:14506071, ECO:0000269|PubMed:24810263}.	collagen catabolic process [GO:0030574]	NA	NA	12975309; 16554811; 14506071; 24810263; 24548619
11	111796904	nonsynonymous	A	G	0.375	1	HSPB2-C11orf52	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	111796904	nonsynonymous	A	G	0.375	1	C11orf52	TRUE	Q96A22	reviewed	Uncharacterized protein C11orf52	C11orf52	2 out of 5	NA	NA	NA	NA	14702039; 16554811; 15489334; 24275569
11	121028581	nonsynonymous	C	G	0.434782608695652	1	TECTA	TRUE	O75443	reviewed	Alpha-tectorin	TECTA	5 out of 5	NA	cell-matrix adhesion [GO:0007160]; sensory perception of sound [GO:0007605]	DISEASE: Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:10196713, ECO:0000269|PubMed:10987647, ECO:0000269|PubMed:12162770, ECO:0000269|PubMed:15319541, ECO:0000269|PubMed:16718611, ECO:0000269|PubMed:17661817, ECO:0000269|PubMed:20947814, ECO:0000269|PubMed:21520338, ECO:0000269|PubMed:9590290}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 21 (DFNB21) [MIM:603629]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:12746400, ECO:0000269|PubMed:9949200}. Note=The disease is caused by mutations affecting the gene represented in this entry.	90635;90636;	9590290; 16554811; 21368133; 10196713; 10987647; 9949200; 11333869; 12162770; 12746400; 15319541; 16718611; 16959974; 17661817; 20947814; 21520338
11	124007900	nonsynonymous	C	T	0.4	1	VWA5A	TRUE	O00534	reviewed	von Willebrand factor A domain-containing protein 5A (Breast cancer suppressor candidate 1) (BCSC-1) (Loss of heterozygosity 11 chromosomal region 2 gene A protein)	VWA5A BCSC1 LOH11CR2A	4 out of 5	TISSUE SPECIFICITY: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested. {ECO:0000269|PubMed:14504409}.	NA	NA	NA	14504409; 15489334; 9417908
11	133779031	nonsynonymous	G	A	0.4375	1	IGSF9B	TRUE	Q9UPX0	reviewed	Protein turtle homolog B (Immunoglobulin superfamily member 9B) (IgSF9B)	IGSF9B KIAA1030	5 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; nervous system development [GO:0007399]; positive regulation of inhibitory postsynaptic potential [GO:0097151]	NA	NA	16554811; 10470851
12	2943924	nonsense	G	A	0.461538461538462	1	NRIP2	TRUE	Q9BQI9	reviewed	Nuclear receptor-interacting protein 2	NRIP2	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	11230166; 14702039; 16541075; 15489334
12	14610199	nonsynonymous	C	T	0.75	0.8	ATF7IP	TRUE	Q6VMQ6	reviewed	Activating transcription factor 7-interacting protein 1 (ATF-interacting protein) (ATF-IP) (ATF7-interacting protein) (ATFa-associated modulator) (hAM) (MBD1-containing chromatin-associated factor 1) (P621)	ATF7IP MCAF MCAF1	5 out of 5	TISSUE SPECIFICITY: Detected at low levels in breast, lung and stomach; highly up-regulated in the corresponding cancerous tissues (at protein level). {ECO:0000269|PubMed:19106100}.	DNA methylation [GO:0006306]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of RNA polymerase II transcriptional preinitiation complex assembly [GO:0045898]; transcription, DNA-templated [GO:0006351]; viral process [GO:0016032]	NA	NA	14536086; 12665582; 16541075; 15489334; 14702039; 10976766; 12659632; 15691849; 16314315; 17081983; 16757475; 16964243; 18669648; 19413330; 19106100; 19690332; 21269460; 21406692; 22814378; 23186163; 24275569; 18842587
12	21639421	nonsynonymous	T	A	0.363636363636364	1	RECQL	TRUE	P46063	reviewed	ATP-dependent DNA helicase Q1 (EC 3.6.4.12) (DNA helicase, RecQ-like type 1) (RecQ1) (DNA-dependent ATPase Q1) (RecQ protein-like 1)	RECQL RECQ1 RECQL1	5 out of 5	TISSUE SPECIFICITY: High expression in heart, lung, skeletal muscle and kidney, low expression in brain. {ECO:0000269|PubMed:7961977}.	DNA repair [GO:0006281]; DNA strand renaturation [GO:0000733]; double-strand break repair via homologous recombination [GO:0000724]	NA	NA	7961977; 7527136; 14702039; 16541075; 15489334; 8056767; 15886194; 19608861; 20068231; 21269460; 23186163; 24275569
12	31256929	nonsynonymous	G	A	0.5	0	DDX11	TRUE	Q96FC9	reviewed	Probable ATP-dependent DNA helicase DDX11 (EC 3.6.4.12) (CHL1-related protein 1) (hCHLR1) (DEAD/H box protein 11) (Keratinocyte growth factor-regulated gene 2 protein) (KRG-2)	DDX11 CHL1 CHLR1 KRG2	5 out of 5	TISSUE SPECIFICITY: Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine, and pancreas. Very low expression seen in the brain. Expressed in dividing cells and/or cells undergoing high levels of recombination. No expression is seen in cells signaled to terminally differentiate. Expressed in keratinocyte growth factor-stimulated cells but not in serum, EGF and IL1-beta-treated keratinocytes. {ECO:0000269|PubMed:8798685, ECO:0000269|PubMed:9013641}.	IRE1-mediated unfolded protein response [GO:0036498]; nucleobase-containing compound metabolic process [GO:0006139]; sister chromatid cohesion [GO:0007062]; viral process [GO:0016032]	DISEASE: Warsaw breakage syndrome (WBRS) [MIM:613398]: A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist. {ECO:0000269|PubMed:20137776, ECO:0000269|PubMed:23033317}. Note=The disease is caused by mutations affecting the gene represented in this entry.	280558;	8798685; 9013641; 15489334; 10648783; 17105772; 17189189; 18499658; 18669648; 20137776; 21269460; 23186163; 23033317
12	49427108	nonsynonymous	G	A	0.529411764705882	1	KMT2D	TRUE	O14686	reviewed	Histone-lysine N-methyltransferase 2D (Lysine N-methyltransferase 2D) (EC 2.1.1.43) (ALL1-related protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 2)	KMT2D ALR MLL2 MLL4	5 out of 5	TISSUE SPECIFICITY: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.	beta-catenin-TCF complex assembly [GO:1904837]; chromatin silencing [GO:0006342]; histone H3-K4 methylation [GO:0051568]; oocyte growth [GO:0001555]; oogenesis [GO:0048477]; positive regulation of cell proliferation [GO:0008284]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; regulation of transcription, DNA-templated [GO:0006355]; response to estrogen [GO:0043627]; transcription, DNA-templated [GO:0006351]	DISEASE: Kabuki syndrome 1 (KABUK1) [MIM:147920]: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. {ECO:0000269|PubMed:20711175, ECO:0000269|PubMed:21280141, ECO:0000269|PubMed:21607748, ECO:0000269|PubMed:21658225, ECO:0000269|PubMed:21671394, ECO:0000269|PubMed:22126750, ECO:0000269|PubMed:23320472, ECO:0000269|PubMed:23913813, ECO:0000269|PubMed:24739679}. Note=The disease is caused by mutations affecting the gene represented in this entry.	2322;	9247308; 16541075; 12482968; 17081983; 16603732; 17021013; 17500065; 17851529; 17525332; 17761849; 18220336; 18669648; 19413330; 19690332; 19608861; 20068231; 21406692; 23186163; 24275569; 25218447; 20711175; 21671394; 21607748; 21280141; 21658225; 22126750; 23913813; 24739679; 23320472
12	51068409	nonsynonymous	G	A	0.523809523809524	1	DIP2B	TRUE	Q9P265	reviewed	Disco-interacting protein 2 homolog B (DIP2 homolog B)	DIP2B KIAA1463	4 out of 5	TISSUE SPECIFICITY: Moderately expressed in adult brain, placenta, skeletal muscle, heart, kidney, pancreas, lung, spleen and colon. Expression was weaker in adult liver, kidney, spleen, and ovary, and in fetal brain and liver. In the brain, it is expressed in the cerebral cortex; the frontal, parietal, occipital and temporal lobes; the paracentral gyrus; the pons; the corpus callosum and the hippocampus. Highest expression levels in the brain were found in the cerebral cortex and the frontal and parietal lobes. {ECO:0000269|PubMed:10819331, ECO:0000269|PubMed:17236128}.	metabolic process [GO:0008152]	NA	NA	16541075; 14702039; 15489334; 10819331; 17236128; 18669648; 19690332; 20068231; 21269460; 23186163; 24275569
12	52402998	nonsynonymous	C	T	0.263157894736842	0.8	GRASP	TRUE	Q7Z6J2	reviewed	General receptor for phosphoinositides 1-associated scaffold protein (GRP1-associated scaffold protein)	GRASP	3 out of 5	NA	protein localization [GO:0008104]; signal transduction [GO:0007165]	NA	NA	15489334; 19690332
12	52681460	nonsynonymous	G	A	0.423076923076923	0	KRT86	FALSE	O43790	reviewed	Keratin, type II cuticular Hb6 (Hair keratin K2.11) (Keratin-86) (K86) (Type II hair keratin Hb6) (Type-II keratin Kb26)	KRT86 KRTHB6	5 out of 5	TISSUE SPECIFICITY: Synthesis begins slightly higher in the hair shaft than HB1 and HB3 and continues much farther up, ending in the keratogeneous zone. {ECO:0000269|PubMed:9084137}.	NA	DISEASE: Monilethrix (MNLIX) [MIM:158000]: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. {ECO:0000269|PubMed:10469314, ECO:0000269|PubMed:10504448, ECO:0000269|PubMed:10594761, ECO:0000269|PubMed:25557232, ECO:0000269|PubMed:9402962}. Note=The disease is caused by mutations affecting the gene represented in this entry.	573;	9457912; 15489334; 9084137; 9402962; 10469314; 10504448; 10594761; 25557232
12	52681460	nonsynonymous	G	A	0.423076923076923	0	KRT81	TRUE	Q14533	reviewed	Keratin, type II cuticular Hb1 (Hair keratin K2.9) (Keratin, hair, basic, 1) (Keratin-81) (K81) (Metastatic lymph node 137 gene protein) (MLN 137) (Type II hair keratin Hb1) (Type-II keratin Kb21) (ghHKb1) (ghHb1)	KRT81 KRTHB1 MLN137	5 out of 5	TISSUE SPECIFICITY: Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue. {ECO:0000269|PubMed:7490069, ECO:0000269|PubMed:7528047, ECO:0000269|PubMed:9457912}.	NA	DISEASE: Monilethrix (MNLIX) [MIM:158000]: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. {ECO:0000269|PubMed:25557232, ECO:0000269|PubMed:9402962, ECO:0000269|PubMed:9665406}. Note=The disease is caused by mutations affecting the gene represented in this entry.	573;	9457912; 16541075; 15489334; 7556444; 7490069; 7528047; 9402962; 9665406; 25557232
12	53452130	nonsynonymous	A	G	0.516129032258065	0	TNS2	TRUE	Q63HR2	reviewed	Tensin-2 (EC 3.1.3.-) (C1 domain-containing phosphatase and tensin homolog) (C1-TEN) (Tensin-like C1 domain-containing phosphatase)	TNS2 KIAA1075 TENC1	5 out of 5	TISSUE SPECIFICITY: Detected in heart, kidney, brain, thymus, spleen, liver, placenta, lung, skeletal muscle and small intestine. {ECO:0000269|PubMed:11792844, ECO:0000269|PubMed:12470648}.	cellular homeostasis [GO:0019725]; collagen metabolic process [GO:0032963]; intracellular signal transduction [GO:0035556]; kidney development [GO:0001822]; multicellular organismal homeostasis [GO:0048871]; multicellular organism growth [GO:0035264]; negative regulation of cell proliferation [GO:0008285]; response to muscle activity [GO:0014850]	NA	NA	12470648; 11792844; 10470851; 12168954; 17974005; 15489334; 15817639; 22019427; 22814378; 23186163; 24275569; 
12	53452525	nonsynonymous	T	C	0.517241379310345	1	TNS2	TRUE	Q63HR2	reviewed	Tensin-2 (EC 3.1.3.-) (C1 domain-containing phosphatase and tensin homolog) (C1-TEN) (Tensin-like C1 domain-containing phosphatase)	TNS2 KIAA1075 TENC1	5 out of 5	TISSUE SPECIFICITY: Detected in heart, kidney, brain, thymus, spleen, liver, placenta, lung, skeletal muscle and small intestine. {ECO:0000269|PubMed:11792844, ECO:0000269|PubMed:12470648}.	cellular homeostasis [GO:0019725]; collagen metabolic process [GO:0032963]; intracellular signal transduction [GO:0035556]; kidney development [GO:0001822]; multicellular organismal homeostasis [GO:0048871]; multicellular organism growth [GO:0035264]; negative regulation of cell proliferation [GO:0008285]; response to muscle activity [GO:0014850]	NA	NA	12470648; 11792844; 10470851; 12168954; 17974005; 15489334; 15817639; 22019427; 22814378; 23186163; 24275569; 
12	54379678	nonsynonymous	A	G	0.44	0	HOXC10	TRUE	Q9NYD6	reviewed	Homeobox protein Hox-C10 (Homeobox protein Hox-3I)	HOXC10 HOX3I	4 out of 5	NA	anterior/posterior pattern specification [GO:0009952]; embryonic limb morphogenesis [GO:0030326]; neuromuscular process [GO:0050905]; positive regulation of cell proliferation [GO:0008284]; proximal/distal pattern formation [GO:0009954]; regulation of transcription, DNA-templated [GO:0006355]; skeletal system development [GO:0001501]; spinal cord motor neuron cell fate specification [GO:0021520]; transcription, DNA-templated [GO:0006351]	NA	NA	10835276; 15489334; 9357979; 18669648; 20068231; 23186163; 25218447; 25772364
12	54496082	nonsynonymous	G	C	0.275	0	FLJ12825	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	54496082	nonsynonymous	G	C	0.275	0	LOC100240734	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	77423627	nonsynonymous	G	A	0.346153846153846	1	E2F7	TRUE	Q96AV8	reviewed	Transcription factor E2F7 (E2F-7)	E2F7	5 out of 5	NA	chorionic trophoblast cell differentiation [GO:0060718]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; hepatocyte differentiation [GO:0070365]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cytokinesis [GO:0032466]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; negative regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0071930]; placenta development [GO:0001890]; positive regulation of DNA endoreduplication [GO:0032877]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; sprouting angiogenesis [GO:0002040]; transcription, DNA-templated [GO:0006351]; trophoblast giant cell differentiation [GO:0060707]	NA	NA	16541075; 15489334; 14702039; 14633988; 15133492; 18194653; 18202719; 18669648; 20068231; 22903062; 19223542; 21248772; 22802528; 22802529; 23186163
12	103234252	nonsynonymous	T	C	0.5	1	PAH	TRUE	P00439	reviewed	Phenylalanine-4-hydroxylase (PAH) (EC 1.14.16.1) (Phe-4-monooxygenase)	PAH	5 out of 5	NA	catecholamine biosynthetic process [GO:0042423]; cellular amino acid biosynthetic process [GO:0008652]; L-phenylalanine catabolic process [GO:0006559]; neurotransmitter biosynthetic process [GO:0042136]; protein hydroxylation [GO:0018126]; tetrahydrobiopterin metabolic process [GO:0046146]; tyrosine biosynthetic process [GO:0006571]	DISEASE: Phenylketonuria (PKU) [MIM:261600]: Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor. {ECO:0000269|PubMed:10200057, ECO:0000269|PubMed:10679941, ECO:0000269|PubMed:11180595, ECO:0000269|PubMed:11385716, ECO:0000269|PubMed:11461196, ECO:0000269|PubMed:12501224, ECO:0000269|PubMed:1355066, ECO:0000269|PubMed:1363837, ECO:0000269|PubMed:1363838, ECO:0000269|PubMed:1671810, ECO:0000269|PubMed:1672290, ECO:0000269|PubMed:1672294, ECO:0000269|PubMed:1679030, ECO:0000269|PubMed:1709636, ECO:0000269|PubMed:1975559, ECO:0000269|PubMed:2014802, ECO:0000269|PubMed:22513348, ECO:0000269|PubMed:22526846, ECO:0000269|PubMed:23792259, ECO:0000269|PubMed:2564729, ECO:0000269|PubMed:2615649, ECO:0000269|PubMed:2840952, ECO:0000269|PubMed:7833954, ECO:0000269|PubMed:8068076, ECO:0000269|PubMed:8406445, ECO:0000269|PubMed:8889590, ECO:0000269|PubMed:9048935, ECO:0000269|PubMed:9101291, ECO:0000269|PubMed:9452061, ECO:0000269|PubMed:9452062, ECO:0000269|PubMed:9521426, ECO:0000269|PubMed:9600453, ECO:0000269|PubMed:9792407, ECO:0000269|PubMed:9950317}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]: Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. {ECO:0000269|PubMed:1358789, ECO:0000269|PubMed:8088845, ECO:0000269|PubMed:8098245, ECO:0000269|PubMed:9521426, ECO:0000269|PubMed:9852673}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Hyperphenylalaninemia (HPA) [MIM:261600]: Mildest form of phenylalanine hydroxylase deficiency. {ECO:0000269|PubMed:11385716, ECO:0000269|PubMed:11935335, ECO:0000269|PubMed:12501224, ECO:0000269|PubMed:1358789, ECO:0000269|PubMed:23792259, ECO:0000269|PubMed:8088845, ECO:0000269|PubMed:8098245, ECO:0000269|PubMed:9521426, ECO:0000269|PubMed:9852673}. Note=The disease is caused by mutations affecting the gene represented in this entry.	79254;2209;79651;79253;293284;	2986678; 15489334; 2461704; 12185072; 18835579; 21269460; 24275569; 9406548; 9843368; 9642259; 10694386; 11718561; 1679029; 2246858; 1301187; 8594560; 2840952; 2564729; 2615649; 1975559; 1671810; 2014802; 1672294; 1672290; 1679030; 1709636; 1358789; 1355066; 1363837; 1363838; 8406445; 8098245; 8364546; 8068076; 8088845; 7833954; 8889583; 8889590; 9048935; 9101291; 9450897; 9521426; 9600453; 10200057; 9452061; 9452062; 9792407; 9792411; 9852673; 9950317; 10679941; 11326337; 11180595; 11385716; 11461196; 11935335; 12501224; 18538294; 23792259; 22526846; 22513348
12	117465867	nonsynonymous	G	A	0.695652173913043	1	FBXW8	TRUE	Q8N3Y1	reviewed	F-box/WD repeat-containing protein 8 (F-box and WD-40 domain-containing protein 8) (F-box only protein 29)	FBXW8 FBW6 FBW8 FBX29 FBXO29 FBXW6	5 out of 5	NA	cell proliferation [GO:0008283]; Golgi organization [GO:0007030]; labyrinthine layer blood vessel development [GO:0060716]; positive regulation of dendrite morphogenesis [GO:0050775]; protein ubiquitination [GO:0016567]; spongiotrophoblast layer development [GO:0060712]	NA	NA	10531037; 16541075; 15489334; 12481031; 12904573; 17332328; 18498745; 21572988; 22814378; 24362026; 24793695
12	132624695	nonsynonymous	C	G	0.318181818181818	1	DDX51	TRUE	Q8N8A6	reviewed	ATP-dependent RNA helicase DDX51 (EC 3.6.4.13) (DEAD box protein 51)	DDX51	5 out of 5	NA	RNA secondary structure unwinding [GO:0010501]; rRNA processing [GO:0006364]	NA	NA	14702039; 16541075; 15489334; 17974005; 17081983; 18691976; 18669648; 19413330; 19690332; 20068231; 21406692; 22223895; 23186163; 24275569
12	132625884	nonsynonymous	C	T	0.580645161290323	0	DDX51	TRUE	Q8N8A6	reviewed	ATP-dependent RNA helicase DDX51 (EC 3.6.4.13) (DEAD box protein 51)	DDX51	5 out of 5	NA	RNA secondary structure unwinding [GO:0010501]; rRNA processing [GO:0006364]	NA	NA	14702039; 16541075; 15489334; 17974005; 17081983; 18691976; 18669648; 19413330; 19690332; 20068231; 21406692; 22223895; 23186163; 24275569
12	133728485	nonsynonymous	A	C	0.416666666666667	0	ZNF10	TRUE	P21506	reviewed	Zinc finger protein 10 (Zinc finger protein KOX1)	ZNF10 KOX1	4 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	2288909; 14702039; 15489334; 23665872
13	25842016	nonsynonymous	C	G	0.5	1	MTMR6	TRUE	Q9Y217	reviewed	Myotubularin-related protein 6 (EC 3.1.3.-)	MTMR6	5 out of 5	TISSUE SPECIFICITY: Expressed in CD4+ T-cells. {ECO:0000269|PubMed:16847315}.	phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; protein dephosphorylation [GO:0006470]	NA	NA	12890864; 14702039; 17974005; 15057823; 15489334; 9736772; 15831468; 16787938; 16847315; 18669648; 23145062; 23186163; 24275569
13	32352714	nonsynonymous	A	G	0.516129032258065	1	RXFP2	TRUE	Q8WXD0	reviewed	Relaxin receptor 2 (G-protein coupled receptor 106) (G-protein coupled receptor affecting testicular descent) (Leucine-rich repeat-containing G-protein coupled receptor 8) (Relaxin family peptide receptor 2)	RXFP2 GPR106 GREAT LGR8	5 out of 5	TISSUE SPECIFICITY: Expressed mainly in the brain, kidney, muscle, testis, thyroid, uterus, peripheral blood cells and bone marrow.	adenylate cyclase-activating G-protein coupled receptor signaling pathway [GO:0007189]; adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway [GO:0007193]; adenylate cyclase-modulating G-protein coupled receptor signaling pathway [GO:0007188]; male gonad development [GO:0008584]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; oocyte maturation [GO:0001556]; positive regulation of cAMP biosynthetic process [GO:0030819]	DISEASE: Cryptorchidism (CRYPTO) [MIM:219050]: One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer. {ECO:0000269|PubMed:12217959}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	11809971; 12217959; 16051677; 15057823; 
13	45149445	nonsynonymous	T	C	0.4	1	TSC22D1	TRUE	Q15714	reviewed	TSC22 domain family protein 1 (Cerebral protein 2) (Regulatory protein TSC-22) (TGFB-stimulated clone 22 homolog) (Transforming growth factor beta-1-induced transcript 4 protein)	TSC22D1 KIAA1994 TGFB1I4 TSC22 hucep-2	5 out of 5	TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues.	transcription from RNA polymerase II promoter [GO:0006366]	NA	NA	8651929; 9022669; 9026990; 12056414; 14702039; 17974005; 15057823; 15489334; 10488076; 19690332; 21269460
13	50080827	nonsynonymous	G	T	0.555555555555556	0.9	SETDB2-PHF11	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
13	50080827	nonsynonymous	G	T	0.555555555555556	0.9	PHF11	TRUE	Q9UIL8	reviewed	PHD finger protein 11 (BRCA1 C-terminus-associated protein) (Renal carcinoma antigen NY-REN-34)	PHF11 BCAP	4 out of 5	TISSUE SPECIFICITY: Highly expressed in T and B-cells, as well as natural killer and mature dendritic cells. Expressed at higher levels in Th1 as compared to Th2 cells. Expressed at low levels in all normal tissues tested, including lung, testis, small intestine, breast, liver and placenta. {ECO:0000269|PubMed:18405956}.	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	10508479; 15057823; 15489334; 12754510; 15674390; 18405956
13	50466461	nonsynonymous	A	G	0.653846153846154	1	CTAGE10P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
13	75900510	nonsynonymous	G	A	0.62962962962963	1	TBC1D4	TRUE	O60343	reviewed	TBC1 domain family member 4 (Akt substrate of 160 kDa) (AS160)	TBC1D4 AS160 KIAA0603	5 out of 5	TISSUE SPECIFICITY: Widely expressed. Isoform 2 is the highest overexpressed in most tissues. Isoform 1 is highly expressed in skeletal muscle and heart, but was not detectable in the liver nor in adipose tissue. Isoform 2 is strongly expressed in adrenal and thyroid gland, and also in lung, kidney, colon, brain and adipose tissue. Isoform 2 is moderately expressed in skeletal muscle. Expressed in pancreatic Langerhans islets, including beta cells (at protein level). Expression is decreased by twofold in pancreatic islets in type 2 diabetes patients compared to control subjects. Up-regulated in T-cells from patients with atopic dermatitis. {ECO:0000269|PubMed:15304337, ECO:0000269|PubMed:18276765, ECO:0000269|PubMed:18771725}.	activation of GTPase activity [GO:0090630]; cellular response to insulin stimulus [GO:0032869]; intracellular protein transport [GO:0006886]; membrane organization [GO:0061024]; negative regulation of vesicle fusion [GO:0031339]; regulation of vesicle fusion [GO:0031338]; vesicle-mediated transport [GO:0016192]	DISEASE: Diabetes mellitus, non-insulin-dependent, 5 (NIDDM5) [MIM:616087]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:25043022}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	NA	18771725; 19077034; 9628581; 14702039; 15057823; 15489334; 17974005; 11994271; 12637568; 15971998; 17081983; 16964243; 18276765; 15304337; 15919790; 18220336; 18669648; 19413330; 19690332; 19608861; 20068231; 21269460; 21406692; 22908308; 23186163; 24275569; 25043022; 21454505
13	99554562	nonsynonymous	C	T	0.444444444444444	0.2	DOCK9	TRUE	Q9BZ29	reviewed	Dedicator of cytokinesis protein 9 (Cdc42 guanine nucleotide exchange factor zizimin-1)	DOCK9 KIAA1058	5 out of 5	TISSUE SPECIFICITY: Widely expressed, with highest expression in heart and placenta. Expressed at intermediate level in kidney, brain, lung and skeletal muscle. {ECO:0000269|PubMed:12172552}.	blood coagulation [GO:0007596]; small GTPase mediated signal transduction [GO:0007264]	NA	NA	12172552; 10470851; 12168954; 14702039; 15057823; 15489334; 12432077; 16964243; 18669648; 20068231; 21269460; 23186163; 24275569; 19745154
13	111102718	nonsynonymous	C	T	0.40625	0.9	COL4A2	TRUE	P08572	reviewed	Collagen alpha-2(IV) chain [Cleaved into: Canstatin]	COL4A2	5 out of 5	NA	angiogenesis [GO:0001525]; cellular response to transforming growth factor beta stimulus [GO:0071560]; collagen catabolic process [GO:0030574]; endodermal cell differentiation [GO:0035987]; extracellular matrix organization [GO:0030198]; negative regulation of angiogenesis [GO:0016525]; transcription, DNA-templated [GO:0006351]	DISEASE: Porencephaly 2 (POREN2) [MIM:614483]: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles. {ECO:0000269|PubMed:22209246}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. {ECO:0000269|PubMed:22209247}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	99810;	3198637; 15057823; 3345760; 2846280; 3182844; 8317999; 3692475; 3582677; 15489334; 3025878; 2844531; 2439508; 10625665; 12876280; 15899827; 21269460; 24275569; 12011424; 21527998; 22209246; 22209247; 22333902
14	22133849	nonsynonymous	A	G	0.388888888888889	0	OR4E2	TRUE	Q8NGC2	reviewed	Olfactory receptor 4E2 (Olfactory receptor OR14-42)	OR4E2	3 out of 5	NA	detection of chemical stimulus involved in sensory perception [GO:0050907]; G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	12213199; 14983052
14	31598427	nonsynonymous	T	C	0.363636363636364	1	HECTD1	TRUE	Q9ULT8	reviewed	E3 ubiquitin-protein ligase HECTD1 (EC 6.3.2.-) (E3 ligase for inhibin receptor) (EULIR) (HECT domain-containing protein 1)	HECTD1 KIAA1131	5 out of 5	NA	protein ubiquitination involved in ubiquitin-dependent protein catabolic process [GO:0042787]	NA	NA	12508121; 10574461; 17974005; 15489334; 12421765; 18669648; 19413330; 20068231; 21269460; 21406692; 23186163; 24275569; 
14	37641762	nonsynonymous	A	G	0.416666666666667	0	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	37641762	nonsynonymous	A	G	0.416666666666667	0	SLC25A21-AS1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	45403616	nonsynonymous	T	C	0.666666666666667	1	KLHL28	TRUE	Q9NXS3	reviewed	Kelch-like protein 28 (BTB/POZ domain-containing protein 5)	KLHL28 BTBD5	2 out of 5	NA	protein ubiquitination involved in ubiquitin-dependent protein catabolic process [GO:0042787]	NA	NA	14702039; 15489334
14	48143947	nonsynonymous	C	G	0.516129032258065	0.5	MDGA2	TRUE	Q7Z553	reviewed	MAM domain-containing glycosylphosphatidylinositol anchor protein 2 (MAM domain-containing protein 1)	MDGA2 MAMDC1 UNQ8188/PRO23197	4 out of 5	TISSUE SPECIFICITY: Detected in Leydig cells, syncytiotrophoblast, duodenal villi epithelial cells and neutrophils from kidney and cutaneous squamous cell carcinoma (at protein level). {ECO:0000269|PubMed:19997561}.	spinal cord motor neuron differentiation [GO:0021522]	NA	NA	14702039; 12508121; 12975309; 19997561
14	65262126	nonsynonymous	C	T	0.375	1	SPTB	TRUE	P11277	reviewed	Spectrin beta chain, erythrocytic (Beta-I spectrin)	SPTB SPTB1	5 out of 5	NA	actin filament capping [GO:0051693]; axon guidance [GO:0007411]; ER to Golgi vesicle-mediated transport [GO:0006888]; MAPK cascade [GO:0000165]	DISEASE: Elliptocytosis 3 (EL3) [MIM:182870]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. {ECO:0000269|PubMed:1975598, ECO:0000269|PubMed:7883966, ECO:0000269|PubMed:8018926, ECO:0000269|PubMed:8226774}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Spherocytosis 2 (SPH2) [MIM:616649]: An autosomal dominant form of hereditary spherocytosis, a group of hematologic disorders characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Clinical manifestations include chronic hemolytic anemia, jaundice, and splenomegaly, with variable severity. {ECO:0000269|PubMed:19538529, ECO:0000269|PubMed:8102379}. Note=The disease is caused by mutations affecting the gene represented in this entry.	288;822;	2195026; 12508121; 2056132; 2243099; 1840591; 1976574; 3390609; 3478706; 12665801; 6472478; 15065869; 19538529; 21269460; 23186163; 24275569; 15062087; 8844207; 8226774; 8102379; 7883966; 8018926; 1975598
14	69521674	nonsynonymous	G	A	0.5	1	DCAF5	TRUE	Q96JK2	reviewed	DDB1- and CUL4-associated factor 5 (Breakpoint cluster region protein 2) (BCRP2) (WD repeat-containing protein 22)	DCAF5 BCRG2 KIAA1824 WDR22	4 out of 5	TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9740667}.	protein ubiquitination [GO:0016567]	NA	NA	11347906; 17974005; 15489334; 9740667; 16949367; 16964240; 19690332; 21269460; 23186163; 24275569
14	95236204	nonsynonymous	GCGCCGCCGCT	GCGCCGCCGCCGCT	0.444444444444444	1	GSC	TRUE	P56915	reviewed	Homeobox protein goosecoid	GSC	4 out of 5	NA	dorsal/ventral neural tube patterning [GO:0021904]; embryonic skeletal system morphogenesis [GO:0048704]; forebrain development [GO:0030900]; gastrulation [GO:0007369]; middle ear morphogenesis [GO:0042474]; muscle organ morphogenesis [GO:0048644]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; negative regulation of Wnt signaling pathway [GO:0030178]; neural crest cell fate specification [GO:0014036]; signal transduction involved in regulation of gene expression [GO:0023019]	DISEASE: Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) [MIM:602471]: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes. {ECO:0000269|PubMed:24290375}. Note=The disease is caused by mutations affecting the gene represented in this entry.	397623;	7916327; 15489334; 24290375; 
14	96552859	nonsynonymous	G	C	0.5	1	C14orf132	TRUE	Q9NPU4	reviewed	Uncharacterized protein C14orf132	C14orf132 C14orf88	2 out of 5	NA	NA	NA	NA	12508121; 14702039; 17974005; 
14	100801331	nonsynonymous	C	T	0.464285714285714	0	WARS	TRUE	P23381	reviewed	Tryptophan--tRNA ligase, cytoplasmic (EC 6.1.1.2) (Interferon-induced protein 53) (IFP53) (Tryptophanyl-tRNA synthetase) (TrpRS) (hWRS) [Cleaved into: T1-TrpRS; T2-TrpRS]	WARS IFI53 WRS	5 out of 5	NA	angiogenesis [GO:0001525]; negative regulation of cell proliferation [GO:0008285]; regulation of angiogenesis [GO:0045765]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]; tryptophanyl-tRNA aminoacylation [GO:0006436]	NA	NA	1761529; 1763065; 1765274; 1537332; 14702039; 12508121; 15489334; 8724762; 7685728; 8496617; 11773626; 1286667; 1373391; 7814400; 11773625; 14630953; 15628863; 18669648; 19608861; 20068231; 21269460; 22223895; 22814378; 23186163; 14671330; 14660560; 16959974
15	41229631	nonsynonymous	T	G	0.375	1	DLL4	TRUE	Q9NR61	reviewed	Delta-like protein 4 (Drosophila Delta homolog 4) (Delta4)	DLL4 UNQ1895/PRO4341	5 out of 5	TISSUE SPECIFICITY: Expressed in vascular endothelium.	angiogenesis [GO:0001525]; blood circulation [GO:0008015]; blood vessel lumenization [GO:0072554]; blood vessel remodeling [GO:0001974]; cardiac atrium morphogenesis [GO:0003209]; cardiac ventricle morphogenesis [GO:0003208]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; dorsal aorta morphogenesis [GO:0035912]; negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903588]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of cell proliferation [GO:0008285]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of gene expression [GO:0010629]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; Notch receptor processing [GO:0007220]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; patterning of blood vessels [GO:0001569]; pericardium morphogenesis [GO:0003344]; positive regulation of gene expression [GO:0010628]; positive regulation of neural precursor cell proliferation [GO:2000179]; positive regulation of Notch signaling pathway [GO:0045747]; regulation of neural retina development [GO:0061074]; regulation of neurogenesis [GO:0050767]; signal transduction [GO:0007165]; T cell differentiation [GO:0030217]; ventral spinal cord interneuron fate commitment [GO:0060579]; ventricular trabecula myocardium morphogenesis [GO:0003222]; visual perception [GO:0007601]	DISEASE: Adams-Oliver syndrome 6 (AOS6) [MIM:616589]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269|PubMed:26299364}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	10837024; 11134954; 12975309; 15489334; 15340161; 17728344; 20616313; 26299364
15	41308365	nonsynonymous	A	C	0.391304347826087	1	INO80	TRUE	Q9ULG1	reviewed	DNA helicase INO80 (hINO80) (EC 3.6.4.12) (INO80 complex subunit A) (Putative DNA helicase INO80 complex homolog 1)	INO80 INO80A INOC1 KIAA1259	5 out of 5	TISSUE SPECIFICITY: According to PubMed:10574462, widely expressed. According to PubMed:16298340, specifically expressed in brain, liver and pancreas. {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:16298340}.	cell division [GO:0051301]; cellular response to ionizing radiation [GO:0071479]; cellular response to UV [GO:0034644]; chromatin remodeling [GO:0006338]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; mitotic sister chromatid segregation [GO:0000070]; positive regulation of cell growth [GO:0030307]; positive regulation of nuclear cell cycle DNA replication [GO:0010571]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; spindle assembly [GO:0051225]; transcription, DNA-templated [GO:0006351]; UV-damage excision repair [GO:0070914]	NA	NA	10574462; 15489334; 17974005; 16230350; 16298340; 17721549; 18026119; 18922472; 18669648; 19690332; 19608861; 20971067; 20687897; 20237820; 20855601; 21303910
15	51757826	nonsynonymous	T	C	0.666666666666667	1	DMXL2	TRUE	Q8TDJ6	reviewed	DmX-like protein 2 (Rabconnectin-3)	DMXL2 KIAA0856	5 out of 5	NA	NA	DISEASE: Polyendocrine-polyneuropathy syndrome (PEPNS) [MIM:616113]: A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. {ECO:0000269|PubMed:25248098}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	11809763; 10048485; 12168954; 16572171; 15489334; 15144186; 18691976; 18669648; 19690332; 20068231; 23186163; 25248098
15	71548995	nonsynonymous	C	T	0.375	1	THSD4	TRUE	Q6ZMP0	reviewed	Thrombospondin type-1 domain-containing protein 4 (A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6) (ADAMTS-like protein 6) (ADAMTSL-6)	THSD4 UNQ9334/PRO34005	3 out of 5	NA	elastic fiber assembly [GO:0048251]	NA	NA	12975309; 14702039; 16572171; 15489334; 17974005
15	71952899	nonsynonymous	G	A	0.4375	1	THSD4	TRUE	Q6ZMP0	reviewed	Thrombospondin type-1 domain-containing protein 4 (A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6) (ADAMTS-like protein 6) (ADAMTSL-6)	THSD4 UNQ9334/PRO34005	3 out of 5	NA	elastic fiber assembly [GO:0048251]	NA	NA	12975309; 14702039; 16572171; 15489334; 17974005
15	77324817	nonsynonymous	G	A	0.454545454545455	0	PSTPIP1	FALSE	O43586	reviewed	Proline-serine-threonine phosphatase-interacting protein 1 (PEST phosphatase-interacting protein 1) (CD2-binding protein 1) (H-PIP)	PSTPIP1 CD2BP1	5 out of 5	TISSUE SPECIFICITY: Highly expressed in the peripheral blood leukocytes, granulocytes and monocytes, namely in T-cells and natural killer cells, and in spleen. Weakly expressed in the thymus, small intestine, lung and placenta. {ECO:0000269|PubMed:14595024, ECO:0000269|PubMed:9857189}.	cell adhesion [GO:0007155]; cell migration [GO:0016477]; endocytosis [GO:0006897]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; signal transduction [GO:0007165]	DISEASE: PAPA syndrome (PAPAS) [MIM:604416]: Characterized by autosomal dominant inheritance of early-onset, primarily affecting skin and joint tissues. Recurring inflammatory episodes lead to accumulation of sterile, pyogenic, neutrophil-rich material within the affected joints, ultimately resulting in significant destruction. {ECO:0000269|PubMed:11971877, ECO:0000269|PubMed:22161697}. Note=The disease is caused by mutations affecting the gene represented in this entry.	69126;	9857189; 19054851; 15489334; 14595024; 17964261; 18480402; 19807924; 19109554; 19584923; 11971877; 22161697
15	78572759	nonsynonymous	A	G	0.516129032258065	1	DNAJA4	TRUE	Q8WW22	reviewed	DnaJ homolog subfamily A member 4	DNAJA4	5 out of 5	NA	negative regulation of inclusion body assembly [GO:0090084]; protein refolding [GO:0042026]; response to heat [GO:0009408]	NA	NA	14702039; 17974005; 16572171; 15489334; 20068231; 23186163
15	82431145	nonsynonymous	C	T	0.482758620689655	1	EFL1	TRUE	Q7Z2Z2	reviewed	Elongation factor-like GTPase 1 (Elongation factor Tu GTP-binding domain-containing protein 1) (Elongation factor-like 1) (Protein FAM42A)	EFL1 EFTUD1 FAM42A	5 out of 5	NA	mature ribosome assembly [GO:0042256]	NA	NA	14702039; 17974005; 16572171; 19608861; 21269460; 21536732; 22814378; 26479198
15	82635522	nonsynonymous	G	C	0.666666666666667	1	GOLGA6L10	TRUE	A6NI86	reviewed	Golgin subfamily A member 6-like protein 10	GOLGA6L10 GOLGA6L18	2 out of 5	NA	NA	NA	NA	16572171
15	83395473	nonsynonymous	C	A	0.428571428571429	1	ACTG1P17	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
16	320583	nonsynonymous	C	T	0.444444444444444	0	RGS11	TRUE	O94810	reviewed	Regulator of G-protein signaling 11 (RGS11)	RGS11	4 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; negative regulation of signal transduction [GO:0009968]; regulation of G-protein coupled receptor protein signaling pathway [GO:0008277]	NA	NA	9789084; 11157797; 15616553; 10339615
16	570233	nonsynonymous	G	A	0.428571428571429	0.9	RAB11FIP3	TRUE	O75154	reviewed	Rab11 family-interacting protein 3 (FIP3-Rab11) (Rab11-FIP3) (Arfophilin-1) (EF hands-containing Rab-interacting protein) (Eferin) (MU-MB-17.148)	RAB11FIP3 ARFO1 KIAA0665	5 out of 5	NA	cytokinesis [GO:0000910]; endocytic recycling [GO:0032456]; negative regulation of adiponectin secretion [GO:0070164]; protein localization to cilium [GO:0061512]; vesicle-mediated transport [GO:0016192]	NA	NA	11481332; 9734811; 14702039; 11157797; 15616553; 15489334; 12800201; 11495908; 12470645; 15158446; 16148947; 15601896; 17628206; 17229837; 17394487; 18511905; 19327867; 22401586; 23186163; 17007872; 17030804
16	1476330	nonsynonymous	T	C	0.375	0	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
16	2345709	nonsynonymous	G	A	0.5	1	ABCA3	TRUE	Q99758	reviewed	ATP-binding cassette sub-family A member 3 (ABC-C transporter) (ATP-binding cassette transporter 3) (ATP-binding cassette 3)	ABCA3 ABC3	5 out of 5	TISSUE SPECIFICITY: Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.	cellular protein metabolic process [GO:0044267]; lipid transport [GO:0006869]; response to drug [GO:0042493]; response to glucocorticoid [GO:0051384]; transmembrane transport [GO:0055085]; transport [GO:0006810]	DISEASE: Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO:0000269|PubMed:15044640}. Note=The disease is caused by mutations affecting the gene represented in this entry.	264675;217563;	8706931; 9027511; 11718719; 15616553; 15489334; 15044640; 16959974
16	2547034	nonsynonymous	C	G	0.45	1	TBC1D24	TRUE	Q9ULP9	reviewed	TBC1 domain family member 24	TBC1D24 KIAA1171	5 out of 5	TISSUE SPECIFICITY: Highest expression in brain. {ECO:0000269|PubMed:20727515}.	neuron projection development [GO:0031175]	DISEASE: Familial infantile myoclonic epilepsy (FIME) [MIM:605021]: A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. {ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:20797691}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]: A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. {ECO:0000269|PubMed:23526554}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 65 (DFNA65) [MIM:616044]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA65 is characterized by post-lingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal. {ECO:0000269|PubMed:24729539, ECO:0000269|PubMed:24729547}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]: A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. {ECO:0000269|PubMed:24291220}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]: A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. {ECO:0000269|PubMed:24387994}. Note=The disease is caused by mutations affecting the gene represented in this entry.	90635;90636;79500;352582;352587;293181;352596;	10574461; 12168954; 19077034; 15489334; 20727515; 20797691; 23186163; 24275569; 23526554; 24387994; 24729547; 24729539; 24291220
16	3712963	nonsynonymous	C	T	0.413793103448276	1	TRAP1	TRUE	Q12931	reviewed	Heat shock protein 75 kDa, mitochondrial (HSP 75) (TNFR-associated protein 1) (Tumor necrosis factor type 1 receptor-associated protein) (TRAP-1)	TRAP1 HSP75	5 out of 5	TISSUE SPECIFICITY: Found in skeletal muscle, liver, heart, brain, kidney, pancreas, lung, placenta and bladder. Expression is higly reduced in bladder cancer and renal cell carcinoma specimens compared to healthy tissues, but it is increased in other type of tumors. {ECO:0000269|PubMed:23564345}.	chaperone-mediated protein folding [GO:0061077]; negative regulation of cellular respiration [GO:1901856]; negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide [GO:1903751]; negative regulation of reactive oxygen species biosynthetic process [GO:1903427]; response to stress [GO:0006950]; translational attenuation [GO:0009386]	NA	NA	10545594; 14702039; 15616553; 15489334; 7876093; 8756626; 10652318; 18669648; 19608861; 21269460; 23747254; 23525905; 23186163; 23564345; 24275569; 25944712
16	11348706	nonsynonymous	C	G	0.428571428571429	1	SOCS1	TRUE	O15524	reviewed	Suppressor of cytokine signaling 1 (SOCS-1) (JAK-binding protein) (JAB) (STAT-induced STAT inhibitor 1) (SSI-1) (Tec-interacting protein 3) (TIP-3)	SOCS1 SSI1 TIP3	5 out of 5	TISSUE SPECIFICITY: Expressed in all tissues with high expression in spleen, small intestine and peripheral blood leukocytes.	cellular response to amino acid stimulus [GO:0071230]; cytokine-mediated signaling pathway [GO:0019221]; fat cell differentiation [GO:0045444]; JAK-STAT cascade [GO:0007259]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of tyrosine phosphorylation of Stat1 protein [GO:0042512]; negative regulation of tyrosine phosphorylation of Stat3 protein [GO:0042518]; organ regeneration [GO:0031100]; protein ubiquitination [GO:0016567]; regulation of activation of JAK2 kinase activity [GO:0010534]; regulation of cytokine secretion [GO:0050707]; regulation of growth [GO:0040008]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; regulation of protein phosphorylation [GO:0001932]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to lipopolysaccharide [GO:0032496]; response to peptide hormone [GO:0043434]; response to progesterone [GO:0032570]	NA	NA	9266833; 9341160; 9202125; 10512686; 9202126; 9727029; 11278610; 11313480; 11553846; 12470648; 11835308; 16410555
16	19049253	nonsynonymous	A	T	0.464285714285714	1	TMC7	TRUE	Q7Z402	reviewed	Transmembrane channel-like protein 7	TMC7	3 out of 5	NA	ion transport [GO:0006811]	NA	NA	12812529; 12906855; 17974005; 15616553; 15489334; 14702039; 23186163
16	27772821	nonsynonymous	C	T	0.571428571428571	1	KIAA0556	TRUE	O60303	reviewed	Protein KIAA0556	KIAA0556	5 out of 5	NA	NA	DISEASE: Joubert syndrome 26 (JBTS26) [MIM:616784]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS26 inheritance is autosomal recessive. {ECO:0000269|PubMed:26714646}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	9628581; 12168954; 15616553; 15489334; 18669648; 23186163; 26714646
16	30100401	nonsynonymous	C	T	0.533333333333333	1	TBX6	TRUE	O95947	reviewed	T-box transcription factor TBX6 (T-box protein 6)	TBX6	5 out of 5	TISSUE SPECIFICITY: Expressed in fetal tail bud, posterior spinal tissue, intervertebral disk and testis. Also expressed in adult testis, kidney, lung, muscle and thymus.	anatomical structure morphogenesis [GO:0009653]; cell fate specification [GO:0001708]; mesoderm development [GO:0007498]; mesoderm formation [GO:0001707]; negative regulation of neuron maturation [GO:0014043]; negative regulation of neuron projection development [GO:0010977]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; signal transduction involved in regulation of gene expression [GO:0023019]; somite rostral/caudal axis specification [GO:0032525]; transcription, DNA-templated [GO:0006351]	DISEASE: Spondylocostal dysostosis 5, autosomal dominant (SCDO5) [MIM:122600]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. {ECO:0000269|PubMed:23335591}. Note=The disease is caused by mutations affecting the gene represented in this entry.	1797;247775;2578;	9933572; 14702039; 15616553; 15489334; 9888994; 23335591
16	69377470	nonsynonymous	A	G	0.48780487804878	0	TMED6	TRUE	Q8WW62	reviewed	Transmembrane emp24 domain-containing protein 6 (p24 family protein gamma-5) (p24gamma5)	TMED6 UNQ9146/PRO34237	2 out of 5	NA	transport [GO:0006810]	NA	NA	12975309; 15489334
16	70500875	nonsynonymous	T	C	0.333333333333333	0	FUK	FALSE	Q8N0W3	reviewed	L-fucose kinase (Fucokinase) (EC 2.7.1.52)	FUK	4 out of 5	NA	NA	NA	NA	12056818; 14702039; 15489334
16	70698094	nonsynonymous	G	A	0.666666666666667	0.8	MTSS1L	TRUE	Q765P7	reviewed	MTSS1-like protein (Actin-bundling with BAIAP2 homology protein 1) (ABBA-1)	MTSS1L	3 out of 5	NA	plasma membrane organization [GO:0007009]	NA	NA	14752106; 15616553; 15489334; 18220336; 18669648; 19413330; 19690332; 20068231; 23186163; 24275569
16	75276547	nonsynonymous	T	C	0.592592592592593	0.4	BCAR1	TRUE	P56945	reviewed	Breast cancer anti-estrogen resistance protein 1 (CRK-associated substrate) (Cas scaffolding protein family member 1) (p130cas)	BCAR1 CAS CASS1 CRKAS	5 out of 5	TISSUE SPECIFICITY: Widely expressed with an abundant expression in the testis. Low level of expression seen in the liver, thymus, and peripheral blood leukocytes. The protein has been detected in a B-cell line.	actin filament organization [GO:0007015]; antigen receptor-mediated signaling pathway [GO:0050851]; B cell receptor signaling pathway [GO:0050853]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell division [GO:0051301]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; epidermal growth factor receptor signaling pathway [GO:0007173]; G-protein coupled receptor signaling pathway [GO:0007186]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; insulin receptor signaling pathway [GO:0008286]; integrin-mediated signaling pathway [GO:0007229]; neurotrophin TRK receptor signaling pathway [GO:0048011]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of cell migration [GO:0030335]; positive regulation of endothelial cell migration [GO:0010595]; regulation of apoptotic process [GO:0042981]; regulation of cell growth [GO:0001558]; T cell receptor signaling pathway [GO:0050852]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]	NA	NA	10639512; 14702039; 15616553; 10587647; 11158326; 12832404; 17038317; 18669648; 19454314; 19086031; 19147981; 20534451; 20068231; 21406692; 23186163; 22710723; 15784259; 22081014; 16959974
16	81942028	nonsynonymous	C	G	0.647058823529412	0	PLCG2	TRUE	P16885	reviewed	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 (EC 3.1.4.11) (Phosphoinositide phospholipase C-gamma-2) (Phospholipase C-IV) (PLC-IV) (Phospholipase C-gamma-2) (PLC-gamma-2)	PLCG2	5 out of 5	NA	activation of store-operated calcium channel activity [GO:0032237]; B cell differentiation [GO:0030183]; B cell receptor signaling pathway [GO:0050853]; calcium-mediated signaling [GO:0019722]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; follicular B cell differentiation [GO:0002316]; inositol phosphate metabolic process [GO:0043647]; inositol trisphosphate biosynthetic process [GO:0032959]; negative regulation of programmed cell death [GO:0043069]; phosphatidylinositol biosynthetic process [GO:0006661]; phospholipid catabolic process [GO:0009395]; platelet activation [GO:0030168]; positive regulation of receptor internalization [GO:0002092]; positive regulation of type I interferon production [GO:0032481]; regulation of gene expression [GO:0010468]; release of sequestered calcium ion into cytosol [GO:0051209]; response to lipopolysaccharide [GO:0032496]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell receptor signaling pathway [GO:0050852]; Wnt signaling pathway [GO:0016055]	DISEASE: Familial cold autoinflammatory syndrome 3 (FCAS3) [MIM:614468]: An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. {ECO:0000269|PubMed:22236196}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878]: An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. {ECO:0000269|PubMed:23000145}. Note=The disease is caused by mutations affecting the gene represented in this entry.	324530;300359;	2849563; 16533400; 15616553; 15489334; 11606584; 12181444; 15144186; 19690332; 21269460; 22236196; 23000145; 24869598
16	87925430	nonsynonymous	T	C	0.375	0.3	CA5A	TRUE	P35218	reviewed	Carbonic anhydrase 5A, mitochondrial (EC 4.2.1.1) (Carbonate dehydratase VA) (Carbonic anhydrase VA) (CA-VA)	CA5A CA5	5 out of 5	NA	bicarbonate transport [GO:0015701]; one-carbon metabolic process [GO:0006730]	DISEASE: Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751]: An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. {ECO:0000269|PubMed:24530203}. Note=The disease is caused by mutations affecting the gene represented in this entry.	401948;	8356065; 7490083; 15489334; 16807956; 16686544; 17127057; 17314045; 19186056; 19206230; 18618712; 24275569; 24530203
16	90030474	nonsynonymous	G	A	0.733333333333333	0	DEF8	FALSE	Q6ZN54	reviewed	Differentially expressed in FDCP 8 homolog (DEF-8)	DEF8	3 out of 5	NA	intracellular signal transduction [GO:0035556]	NA	NA	14702039; 15616553; 15489334; 22814378
17	722689	nonsynonymous	G	A	0.48	0.2	NXN	TRUE	Q6DKJ4	reviewed	Nucleoredoxin (EC 1.8.1.8)	NXN NRX	4 out of 5	NA	cardiovascular system development [GO:0072358]; cell differentiation [GO:0030154]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of Wnt signaling pathway [GO:0030178]; Wnt signaling pathway [GO:0016055]	NA	NA	14702039; 16625196; 15489334; 16764867; 19413330; 21269460
17	1183612	nonsynonymous	T	C	0.5	1	TUSC5	TRUE	Q8IXB3	reviewed	Tumor suppressor candidate 5 (Dispanin subfamily B member 1) (DSPB1) (Interferon-induced transmembrane domain-containing protein D3) (Protein located at seventeen-p-thirteen point three 1)	TUSC5 IFITMD3 LOST1	4 out of 5	TISSUE SPECIFICITY: Expressed at high levels in heart, mammary gland, adrenal gland, stomach, smooth muscle and skeletal muscle, and at lower levels in brain and lung. Strongly down-regulated in lung cancer tissues, due to hypermethylation of the corresponding locus. {ECO:0000269|PubMed:12660825}.	response to biotic stimulus [GO:0009607]	NA	NA	12660825; 16625196; 22363774
17	4575740	nonsynonymous	A	G	0.272727272727273	0	PELP1	TRUE	Q8IZL8	reviewed	Proline-, glutamic acid- and leucine-rich protein 1 (Modulator of non-genomic activity of estrogen receptor) (Transcription factor HMX3)	PELP1 HMX3 MNAR	5 out of 5	TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11481323}.	cellular response to estrogen stimulus [GO:0071391]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; rRNA processing [GO:0006364]; transcription, DNA-templated [GO:0006351]	NA	NA	12415108; 15489334; 11481323; 12682072; 14963108; 15374949; 15456770; 15579769; 16140940; 15994929; 15960975; 17081983; 16574651; 16352611; 16567619; 17505058; 17525332; 18669648; 19413330; 20068231; 21269460; 21406692; 22872859; 22223895; 22814378; 23186163; 24275569
17	17700037	nonsynonymous	AAGGAGGAGAGGC	AAGGAGAGGC	0.6	1	RAI1	TRUE	Q7Z5J4	reviewed	Retinoic acid-induced protein 1	RAI1 KIAA1820	5 out of 5	TISSUE SPECIFICITY: Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain. {ECO:0000269|PubMed:12837267}.	circadian regulation of gene expression [GO:0032922]; negative regulation of multicellular organism growth [GO:0040015]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; skeletal system development [GO:0001501]	DISEASE: Smith-Magenis syndrome (SMS) [MIM:182290]: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. {ECO:0000269|PubMed:11404004, ECO:0000269|PubMed:12652298}. Note=The disease is caused by mutations affecting the gene represented in this entry.	1713;819;	11404004; 12837267; 11347906; 15489334; 17974005; 12652298; 10915763; 18220336; 18669648; 19413330; 19690332; 20068231; 22578325; 23186163; 25114211
17	28778817	nonsynonymous	T	C	0.4	0	CPD	TRUE	O75976	reviewed	Carboxypeptidase D (EC 3.4.17.22) (Metallocarboxypeptidase D) (gp180)	CPD	5 out of 5	TISSUE SPECIFICITY: Highly expressed in placenta, pancreas and hepatoma cells. Lower levels found in skeletal muscle, heart and colon carcinoma and melanoma cell lines.	peptide metabolic process [GO:0006518]; protein processing [GO:0016485]	NA	NA	9714835; 9355738; 14702039; 16625196; 15489334; 9064476; 12643288; 12754519; 18669648; 19159218; 19690332; 21269460; 21406692; 23186163; 24275569; 25944712
17	39593722	nonsynonymous	C	T	0.380952380952381	0.1	KRT38	TRUE	O76015	reviewed	Keratin, type I cuticular Ha8 (Hair keratin, type I Ha8) (Keratin-38) (K38)	KRT38 HHA8 HKA8 KRTHA8	5 out of 5	NA	NA	NA	NA	9756910; 16625196; 15489334; 15617563
17	48913390	nonsynonymous	G	A	0.65	0	WFIKKN2	TRUE	Q8TEU8	reviewed	WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 (Growth and differentiation factor-associated serum protein 1) (GASP-1) (hGASP-1) (WAP, follistatin, immunoglobulin, Kunitz and NTR domain-containing-related protein) (WFIKKN-related protein)	WFIKKN2 GASP1 WFIKKNRP UNQ9235/PRO31996	4 out of 5	TISSUE SPECIFICITY: Primarily expressed in ovary, testis and brain, but not in liver. In fetal tissues, it is primarily expressed in brain, skeletal muscle, thymus and kidney. {ECO:0000269|PubMed:11928817}.	muscle fiber development [GO:0048747]; negative regulation of DNA binding [GO:0043392]; negative regulation of protein binding [GO:0032091]; palate development [GO:0060021]; skeletal system development [GO:0001501]; transforming growth factor beta receptor signaling pathway [GO:0007179]	NA	NA	11928817; 12975309; 12595574
17	55957068	nonsynonymous	G	A	0.681818181818182	1	CUEDC1	TRUE	Q9NWM3	reviewed	CUE domain-containing protein 1	CUEDC1	2 out of 5	NA	NA	NA	NA	14702039; 15489334; 
17	61561896	nonsynonymous	G	A	0.347826086956522	1	ACE	TRUE	P12821	reviewed	Angiotensin-converting enzyme (ACE) (EC 3.2.1.-) (EC 3.4.15.1) (Dipeptidyl carboxypeptidase I) (Kininase II) (CD antigen CD143) [Cleaved into: Angiotensin-converting enzyme, soluble form]	ACE DCP DCP1	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. {ECO:0000269|PubMed:10924499, ECO:0000269|PubMed:10969042, ECO:0000269|PubMed:12459472, ECO:0000269|PubMed:15671045}.	angiotensin catabolic process in blood [GO:0002005]; angiotensin maturation [GO:0002003]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; arachidonic acid secretion [GO:0050482]; beta-amyloid metabolic process [GO:0050435]; blood vessel remodeling [GO:0001974]; cell proliferation in bone marrow [GO:0071838]; heart contraction [GO:0060047]; hematopoietic stem cell differentiation [GO:0060218]; hormone catabolic process [GO:0042447]; kidney development [GO:0001822]; mononuclear cell proliferation [GO:0032943]; negative regulation of gap junction assembly [GO:1903597]; neutrophil mediated immunity [GO:0002446]; peptide catabolic process [GO:0043171]; positive regulation of peptidyl-cysteine S-nitrosylation [GO:2000170]; positive regulation of peptidyl-tyrosine autophosphorylation [GO:1900086]; positive regulation of protein tyrosine kinase activity [GO:0061098]; regulation of angiotensin metabolic process [GO:0060177]; regulation of blood pressure [GO:0008217]; regulation of hematopoietic stem cell proliferation [GO:1902033]; regulation of renal output by angiotensin [GO:0002019]; regulation of smooth muscle cell migration [GO:0014910]; regulation of systemic arterial blood pressure by renin-angiotensin [GO:0003081]; regulation of vasoconstriction [GO:0019229]; regulation of vasodilation [GO:0042312]; spermatogenesis [GO:0007283]	DISEASE: Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. {ECO:0000269|PubMed:15534175}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). {ECO:0000269|PubMed:16116425}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Microvascular complications of diabetes 3 (MVCD3) [MIM:612624]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. {ECO:0000269|PubMed:10099885}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. {ECO:0000269|PubMed:15277638}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	97369;	2849100; 2547653; 2554286; 10319862; 14702039; 16625196; 2558109; 9642152; 1649623; 8755737; 9013598; 10769174; 10969042; 10924499; 11076943; 12386153; 12459472; 12542396; 15151696; 15671045; 16335952; 19159218; 21269460; 12540854; 15236580; 16476442; 10099885; 10391210; 11551873; 14694062; 15534175; 15277638; 16116425; 25787250
17	61949947	nonsynonymous	G	A	0.413793103448276	1	CSH2	TRUE	P0DML3	reviewed	Chorionic somatomammotropin hormone 2 (Choriomammotropin) (Lactogen) (Placental lactogen) (PL)	CSH2	5 out of 5	NA	NA	NA	NA	3030680; 6300056; 2744760; 7169009; 18473352; 15489334; 593368; 4712450; 5286363; 438159; 16546209
17	61987944	nonsynonymous	C	A	0.333333333333333	0	CSHL1	FALSE	Q14406	reviewed	Chorionic somatomammotropin hormone-like 1 (Chorionic somatomammotropin-like) (Lactogen-like)	CSHL1 CSHP1 CSL	4 out of 5	NA	NA	NA	NA	2744760; 8083227; 16625196; 15489334
17	62892873	nonsynonymous	T	C	0.357142857142857	0	LRRC37A3	TRUE	O60309	reviewed	Leucine-rich repeat-containing protein 37A3	LRRC37A3 KIAA0563	3 out of 5	NA	NA	NA	NA	9628581; 15489334; 14702039
17	67151207	nonsynonymous	C	A	0.6	0	ABCA10	TRUE	Q8WWZ4	reviewed	ATP-binding cassette sub-family A member 10	ABCA10	4 out of 5	TISSUE SPECIFICITY: Widely expressed. Highly expressed in skeletal muscle, heart, brain and gastrointestinal tract. {ECO:0000269|PubMed:12821155, ECO:0000269|Ref.1}.	lipid transport [GO:0006869]	NA	NA	12821155; 17974005; 16625196; 15489334
17	74381682	nonsynonymous	C	T	0.416666666666667	0	SPHK1	TRUE	Q9NYA1	reviewed	Sphingosine kinase 1 (SK 1) (SPK 1) (EC 2.7.1.91)	SPHK1 SPHK SPK	5 out of 5	TISSUE SPECIFICITY: Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle. {ECO:0000269|PubMed:10802064}.	blood vessel development [GO:0001568]; brain development [GO:0007420]; calcium-mediated signaling [GO:0019722]; cellular response to growth factor stimulus [GO:0071363]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to starvation [GO:0009267]; cyclooxygenase pathway [GO:0019371]; female pregnancy [GO:0007565]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of neuron projection development [GO:0010976]; positive regulation of neurotransmitter secretion [GO:0001956]; positive regulation of NF-kappaB import into nucleus [GO:0042346]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of smooth muscle contraction [GO:0045987]; protein folding [GO:0006457]; regulation of interleukin-1 beta production [GO:0032651]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; response to amine [GO:0014075]; response to ATP [GO:0033198]; response to interleukin-1 [GO:0070555]; response to magnesium ion [GO:0032026]; response to progesterone [GO:0032570]; signal transduction [GO:0007165]; sphingoid catabolic process [GO:0046521]; sphingolipid biosynthetic process [GO:0030148]; sphingosine biosynthetic process [GO:0046512]; sphingosine metabolic process [GO:0006670]	NA	NA	10863092; 10802064; 10947957; 14702039; 16625196; 15489334; 12080051; 14575709; 18669648; 19854831; 20577214; 23602659
17	76374763	nonsynonymous	C	T	0.380952380952381	1	PGS1	TRUE	Q32NB8	reviewed	CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial (EC 2.7.8.5) (Phosphatidylglycerophosphate synthase 1) (PGP synthase 1)	PGS1	5 out of 5	NA	cardiolipin biosynthetic process [GO:0032049]; diacylglycerol metabolic process [GO:0046339]; phosphatidylglycerol biosynthetic process [GO:0006655]	NA	NA	14702039; 15489334; 17974005
17	77769120	nonsynonymous	GATCCCGCTCCCGGTCCCTA	GA	0.357142857142857	0.1	CBX8	TRUE	Q9HC52	reviewed	Chromobox protein homolog 8 (Polycomb 3 homolog) (Pc3) (hPc3) (Rectachrome 1)	CBX8 PC3 RC1	5 out of 5	NA	cellular response to hydrogen peroxide [GO:0070301]; histone ubiquitination [GO:0016574]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of DNA repair [GO:0045739]; protein sumoylation [GO:0016925]; transcription, DNA-templated [GO:0006351]	NA	NA	10825164; 14702039; 15489334; 11313972; 12167701; 18691976; 18669648; 19636380; 19690332; 20068231; 21269460; 21282530; 23186163; 24275569; 21047797
17	78357600	nonsynonymous	A	G	0.53125	0	RNF213	TRUE	Q63HN8	reviewed	E3 ubiquitin-protein ligase RNF213 (EC 3.6.4.-) (EC 6.3.2.-) (ALK lymphoma oligomerization partner on chromosome 17) (Mysterin) (RING finger protein 213)	RNF213 ALO17 C17orf27 KIAA1554 KIAA1618 MYSTR	5 out of 5	TISSUE SPECIFICITY: Widely expressed (at protein level). {ECO:0000269|PubMed:21799892}.	angiogenesis [GO:0001525]; negative regulation of non-canonical Wnt signaling pathway [GO:2000051]; protein autoubiquitination [GO:0051865]; protein homooligomerization [GO:0051260]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; sprouting angiogenesis [GO:0002040]; ubiquitin-dependent protein catabolic process [GO:0006511]	DISEASE: Moyamoya disease 2 (MYMY2) [MIM:607151]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. {ECO:0000269|PubMed:21048783, ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:23110205, ECO:0000269|PubMed:23994138, ECO:0000269|PubMed:25278557, ECO:0000269|PubMed:25956231, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26198278}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving RNF213 is associated with anaplastic large-cell lymphoma (ALCL). Translocation t(2;17)(p23;q25) with ALK. {ECO:0000269|PubMed:12112524}.	2573;	21799892; 17974005; 16625196; 15489334; 12112524; 10997877; 14702039; 18691976; 18669648; 18318008; 19369195; 19690332; 20068231; 21269460; 21406692; 23186163; 24275569; 25218447; 24658080; 26070522; 26278786; 26766444; 21048783; 23110205; 23994138; 25043520; 25278557; 26198278; 26126547; 25956231
17	78357600	nonsynonymous	A	G	0.53125	0	LOC100294362	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
17	79427389	nonsynonymous	G	A	0.44	1	BAHCC1	TRUE	Q9P281	reviewed	BAH and coiled-coil domain-containing protein 1 (Bromo adjacent homology domain-containing protein 2) (BAH domain-containing protein 2)	BAHCC1 BAHD2 KIAA1447	3 out of 5	NA	chromatin silencing [GO:0006342]; heterochromatin assembly [GO:0031507]	NA	NA	16625196; 10819331; 15489334; 17525332; 19608861; 23186163
17	79514378	nonsynonymous	C	T	0.736842105263158	0	FAAP100	TRUE	Q0VG06	reviewed	Fanconi anemia core complex-associated protein 100 (Fanconi anemia-associated protein of 100 kDa)	FAAP100 C17orf70	5 out of 5	NA	interstrand cross-link repair [GO:0036297]	NA	NA	14702039; 16625196; 15489334; 17974005; 17396147; 18669648; 23186163; 24275569
18	21705440	nonsynonymous	C	T	0.458333333333333	1	TTC39C	TRUE	Q8N584	reviewed	Tetratricopeptide repeat protein 39C (TPR repeat protein 39C)	TTC39C C18orf17	2 out of 5	NA	NA	NA	NA	14702039; 16177791; 15489334
18	33243613	nonsynonymous	C	T	0.32258064516129	1	GALNT1	TRUE	Q10472	reviewed	Polypeptide N-acetylgalactosaminyltransferase 1 (EC 2.4.1.41) (Polypeptide GalNAc transferase 1) (GalNAc-T1) (pp-GaNTase 1) (Protein-UDP acetylgalactosaminyltransferase 1) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 1) [Cleaved into: Polypeptide N-acetylgalactosaminyltransferase 1 soluble form]	GALNT1	5 out of 5	TISSUE SPECIFICITY: Widely expressed. Expressed in all tissues tested. {ECO:0000269|PubMed:7592619}.	O-glycan processing [GO:0016266]; protein O-linked glycosylation [GO:0006493]; protein O-linked glycosylation via serine [GO:0018242]; protein O-linked glycosylation via threonine [GO:0018243]	NA	NA	8690719; 7592619; 15489334; 8727794; 9295285; 9394011; 21269460
18	60383323	nonsynonymous	C	T	0.666666666666667	0	PHLPP1	TRUE	O60346	reviewed	PH domain leucine-rich repeat-containing protein phosphatase 1 (EC 3.1.3.16) (Pleckstrin homology domain-containing family E member 1) (PH domain-containing family E member 1) (Suprachiasmatic nucleus circadian oscillatory protein) (hSCOP)	PHLPP1 KIAA0606 PHLPP PLEKHE1 SCOP	5 out of 5	TISSUE SPECIFICITY: In colorectal cancer tissue, expression is highest in the surface epithelium of normal colonic mucosa adjacent to the cancer tissue but is largely excluded from the crypt bases. Expression is lost or significantly decreased in 78% of tested tumors (at protein level). Ubiquitously expressed in non-cancerous tissues. {ECO:0000269|PubMed:15808505, ECO:0000269|PubMed:19079341}.	apoptotic process [GO:0006915]; entrainment of circadian clock [GO:0009649]; negative regulation of protein kinase B signaling [GO:0051898]; regulation of apoptotic process [GO:0042981]; regulation of JNK cascade [GO:0046328]; regulation of MAPK cascade [GO:0043408]; regulation of p38MAPK cascade [GO:1900744]; regulation of T cell anergy [GO:0002667]	NA	NA	16177791; 9628581; 12168954; 15489334; 14702039; 15808505; 17081983; 17386267; 18162466; 19732725; 19079341; 20513427; 21701506; 21986499; 21804599; 22814378; 23186163; 24892992; 24530606; 25820252
18	65178507	nonsynonymous	T	C	0.423076923076923	1	DSEL	TRUE	Q8IZU8	reviewed	Dermatan-sulfate epimerase-like protein (EC 5.1.-.-)	DSEL C18orf4 NCAG1	4 out of 5	TISSUE SPECIFICITY: Expressed in different brain areas as well as in multiple other peripheral tissues. {ECO:0000269|PubMed:12556911}.	chondroitin sulfate metabolic process [GO:0030204]; dermatan sulfate biosynthetic process [GO:0030208]	NA	NA	12556911; 16177791; 15489334; 16959974
18	67755337	nonsynonymous	T	G	0.6	1	RTTN	TRUE	Q86VV8	reviewed	Rotatin	RTTN	4 out of 5	NA	cilium organization [GO:0044782]; determination of left/right symmetry [GO:0007368]	DISEASE: Polymicrogyria with seizures (PMGYS) [MIM:614833]: A disease characterized by many irregular small gyri in the brain surface and fusion of the molecular layer over multiple small gyri, which gives a festooned appearance to the cortical surface, without abnormal neuronal migration. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYS patients have moderate to severe mental retardation, poor speech, dysarthria and seizures. {ECO:0000269|PubMed:22939636}. Note=The disease is caused by mutations affecting the gene represented in this entry.	208447;	14702039; 16177791; 17974005; 15489334; 19608861; 22939636; 23186163
18	76754444	nonsynonymous	C	T	0.5	0	SALL3	TRUE	Q9BXA9	reviewed	Sal-like protein 3 (Zinc finger protein 796) (Zinc finger protein SALL3) (hSALL3)	SALL3 ZNF796	5 out of 5	TISSUE SPECIFICITY: Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).	forelimb morphogenesis [GO:0035136]; hindlimb morphogenesis [GO:0035137]; negative regulation of smoothened signaling pathway [GO:0045879]; neurogenesis [GO:0022008]; olfactory bulb interneuron development [GO:0021891]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]; transcription from RNA polymerase II promoter [GO:0006366]	NA	NA	10610715; 16177791; 21406692; 16959974
19	1828148	nonsynonymous	G	A	0.476190476190476	1	REXO1	TRUE	Q8N1G1	reviewed	RNA exonuclease 1 homolog (EC 3.1.-.-) (Elongin-A-binding protein 1) (EloA-BP1) (Transcription elongation factor B polypeptide 3-binding protein 1)	REXO1 ELOABP1 KIAA1138 TCEB3BP1	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12943681}.	NA	NA	NA	12943681; 10574461; 15057824; 15489334; 18220336; 21406692; 23186163
19	3546264	nonsynonymous	C	T	0.583333333333333	1	MFSD12	TRUE	Q6NUT3	reviewed	Major facilitator superfamily domain-containing protein 12	MFSD12 C19orf28	3 out of 5	NA	transport [GO:0006810]	NA	NA	15057824; 15489334; 22814378
19	4175104	nonsynonymous	C	T	0.526315789473684	1	SIRT6	TRUE	Q8N6T7	reviewed	NAD-dependent protein deacetylase sirtuin-6 (EC 3.5.1.-) (Regulatory protein SIR2 homolog 6) (SIR2-like protein 6)	SIRT6 SIR2L6	5 out of 5	NA	base-excision repair [GO:0006284]; glucose homeostasis [GO:0042593]; negative regulation of cell proliferation [GO:0008285]; negative regulation of glucose import [GO:0046325]; negative regulation of glycolytic process [GO:0045820]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of stem cell proliferation [GO:2000648]; post-embryonic cardiac muscle cell growth involved in heart morphogenesis [GO:0003247]; protein ADP-ribosylation [GO:0006471]; protein destabilization [GO:0031648]; regulation of double-strand break repair via homologous recombination [GO:0010569]; response to nutrient levels [GO:0031667]	NA	NA	10873683; 14702039; 15057824; 15489334; 16079181; 18337721; 18669648; 19413330; 19135889; 19625767; 20829486; 21406692; 23186163; 24275569; 21362626
19	7593048	nonsynonymous	C	T	0.48	0	MCOLN1	TRUE	Q9GZU1	reviewed	Mucolipin-1 (MG-2) (Mucolipidin)	MCOLN1 ML4 MSTP080	5 out of 5	TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. {ECO:0000269|PubMed:10973263, ECO:0000269|PubMed:11013137, ECO:0000269|PubMed:11030752}.	calcium ion transmembrane transport [GO:0070588]; cation transport [GO:0006812]; transferrin transport [GO:0033572]	DISEASE: Mucolipidosis 4 (ML4) [MIM:252650]: An autosomal recessive lysosomal storage disorder characterized by severe psychomotor retardation and ophthalmologic abnormalities, including corneal opacity, retinal degeneration and strabismus. Storage bodies of lipids and water-soluble substances are seen by electron microscopy in almost every cell type of the patients. Most patients are unable to speak or walk independently and reach a maximal developmental level of 1-2 years. All patients have constitutive achlorhydia associated with a secondary elevation of serum gastrin levels. {ECO:0000269|PubMed:11030752, ECO:0000269|PubMed:11317355, ECO:0000269|PubMed:12182165, ECO:0000269|PubMed:15523648}. Note=The disease is caused by mutations affecting the gene represented in this entry.	578;	11013137; 11030752; 10973263; 14702039; 15489334; 12459486; 15178326; 14749347; 17897319; 19864416; 19159218; 11317355; 12182165; 15523648; 16959974
19	9868686	nonsynonymous	T	A	0.441176470588235	1	ZNF846	TRUE	Q147U1	reviewed	Zinc finger protein 846	ZNF846	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824; 15489334; 18669648
19	13255588	nonsynonymous	C	T	0.5	1	STX10	TRUE	O60499	reviewed	Syntaxin-10 (Syn10)	STX10 SYN10	5 out of 5	TISSUE SPECIFICITY: Expressed at high levels in heart, skeletal muscle and pancreas.	Golgi vesicle transport [GO:0048193]; intracellular protein transport [GO:0006886]; regulation of protein localization [GO:0032880]; retrograde transport, endosome to Golgi [GO:0042147]; vesicle docking [GO:0048278]; vesicle fusion [GO:0006906]	NA	NA	9446797; 15057824; 15489334; 15878329; 18195106; 18691976; 18669648; 19690332; 20068231; 21269460; 22814378; 23186163; 24275569; 25944712
19	15541855	nonsynonymous	T	C	0.52	1	WIZ	FALSE	O95785	reviewed	Protein Wiz (Widely-interspaced zinc finger-containing protein) (Zinc finger protein 803)	WIZ ZNF803	5 out of 5	NA	positive regulation of nuclear cell cycle DNA replication [GO:0010571]; protein heterotrimerization [GO:0070208]; protein stabilization [GO:0050821]	NA	NA	14702039; 15057824; 15489334; 17974005; 17081983; 16964243; 18691976; 19061646; 18438403; 18669648; 19413330; 19690332; 20068231; 21406692; 23186163; 25218447; 25114211; 25772364; 25755297
19	15760015	nonsynonymous	A	G	0.666666666666667	1	CYP4F3	TRUE	Q08477	reviewed	Docosahexaenoic acid omega-hydroxylase CYP4F3 (EC 1.14.13.199) (20-hydroxyeicosatetraenoic acid synthase) (20-HETE synthase) (EC 1.14.13.-) (CYPIVF3) (Cytochrome P450 4F3) (Cytochrome P450-LTB-omega) (Leukotriene-B(4) 20-monooxygenase 2) (Leukotriene-B(4) omega-hydroxylase 2) (EC 1.14.13.30)	CYP4F3 LTB4H	5 out of 5	TISSUE SPECIFICITY: Isoform CYP4F3A is expressed in the polymorphonuclear leukocytes as well as leukocytes and bone marrow. Isoform CYP4F3B is selectively expressed in liver and kidney and is also the predominant CYP4F isoform in trachea and tissues of the gastrointestinal tract. {ECO:0000269|PubMed:11461919}.	icosanoid metabolic process [GO:0006690]; leukotriene metabolic process [GO:0006691]	NA	NA	8486631; 9539102; 14702039; 15057824; 15489334; 10409674; 11461919; 16820285; 18577768
19	17622512	nonsynonymous	G	A	0.375	1	PGLS	TRUE	O95336	reviewed	6-phosphogluconolactonase (6PGL) (EC 3.1.1.31)	PGLS	4 out of 5	NA	carbohydrate metabolic process [GO:0005975]; pentose-phosphate shunt [GO:0006098]; pentose-phosphate shunt, oxidative branch [GO:0009051]	NA	NA	10518023; 15489334; 19413330; 19608861; 21269460; 24275569; 25944712
19	23544784	nonsynonymous	G	A	0.380952380952381	0	ZNF91	TRUE	Q05481	reviewed	Zinc finger protein 91 (Zinc finger protein HPF7) (Zinc finger protein HTF10)	ZNF91	5 out of 5	NA	negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transposon integration [GO:0070895]; transcription, DNA-templated [GO:0006351]	NA	NA	8467795; 14702039; 15057824; 2023909; 7479878; 11470777; 16606703; 23665872; 25274305
19	33616077	nonsynonymous	C	T	0.315789473684211	0.9	GPATCH1	TRUE	Q9BRR8	reviewed	G patch domain-containing protein 1 (Evolutionarily conserved G-patch domain-containing protein)	GPATCH1 ECGP GPATC1	3 out of 5	NA	mRNA splicing, via spliceosome [GO:0000398]	NA	NA	15489334; 17974005; 14702039; 17081983; 20068231; 21406692; 23186163
19	37619845	nonsynonymous	C	T	0.542857142857143	0	ZNF420	TRUE	Q8TAQ5	reviewed	Zinc finger protein 420	ZNF420	4 out of 5	NA	regulation of apoptotic process [GO:0042981]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824; 15489334
19	39575997	nonsynonymous	G	A	0.48	0.2	ACP7	TRUE	Q6ZNF0	reviewed	Acid phosphatase type 7 (EC 3.1.3.2) (Purple acid phosphatase long form)	ACP7 PAPL PAPL1	3 out of 5	NA	NA	NA	NA	14702039; 15057824; 15489334; 16793224
19	40433583	nonsynonymous	G	A	0.590909090909091	0.1	FCGBP	TRUE	Q9Y6R7	reviewed	IgGFc-binding protein (Fcgamma-binding protein antigen) (FcgammaBP)	FCGBP	5 out of 5	TISSUE SPECIFICITY: Mainly expressed in placenta and colon epithelium. Expressed in thyroid, and down-regulated in thyroid carcinomas. Present in serum, with higher levels in patients with various autoimmune diseases (at protein level). {ECO:0000269|PubMed:11600203, ECO:0000269|PubMed:12208673, ECO:0000269|PubMed:9182547}.	NA	NA	NA	9182547; 15057824; 11600203; 12208673; 15084671; 16335952; 16740002; 19432394; 19139490
19	44892168	nonsynonymous	C	T	0.483870967741935	0	ZNF285	TRUE	Q96NJ3	reviewed	Zinc finger protein 285 (Zinc finger protein 285A)	ZNF285 ZNF285A	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824; 15489334
19	45028231	nonsynonymous	G	A	0.545454545454545	0	CEACAM20	TRUE	Q6UY09	reviewed	Carcinoembryonic antigen-related cell adhesion molecule 20	CEACAM20 UNQ9366/PRO34155	3 out of 5	NA	NA	NA	NA	12975309
19	49216607	nonsynonymous	G	A	0.454545454545455	1	MAMSTR	TRUE	Q6ZN01	reviewed	MEF2-activating motif and SAP domain-containing transcriptional regulator (MEF2-activating SAP transcriptional regulatory protein)	MAMSTR MASTR	3 out of 5	TISSUE SPECIFICITY: Expressed in skeletal muscle, brain, placenta and spleen. {ECO:0000269|PubMed:16818234}.	positive regulation of myotube differentiation [GO:0010831]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15489334; 16818234
19	52537202	nonsynonymous	C	T	0.21875	0	ZNF432	TRUE	O94892	reviewed	Zinc finger protein 432	ZNF432 KIAA0798	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	9872452; 15489334; 16777052; 16959974
19	56029631	nonsynonymous	C	T	0.405405405405405	0	SSC5D	TRUE	A1L4H1	reviewed	Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D (Soluble scavenger protein with 5 SRCR domains) (SSc5D)	SSC5D	5 out of 5	TISSUE SPECIFICITY: Highly expressed in monocytes/macrophages and T-lymphocytes. Highly expressed in placenta and spleen, and also detected at lower levels in colon, and more weakly in lung, heart and kidney. {ECO:0000269|PubMed:19535143}.	defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; detection of bacterial lipoprotein [GO:0042494]; innate immune response [GO:0045087]; multicellular organism development [GO:0007275]; negative regulation of interleukin-8 secretion [GO:2000483]	NA	NA	19535143; 15057824; 15489334
19	57987104	nonsense	C	T	0.5	1	ZNF772	TRUE	Q68DY9	reviewed	Zinc finger protein 772	ZNF772	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 17974005; 15057824
20	76771	nonsynonymous	C	T	0.468085106382979	0	DEFB125	TRUE	Q8N687	reviewed	Beta-defensin 125 (Beta-defensin 25) (DEFB-25) (Defensin, beta 125)	DEFB125 DEFB25	3 out of 5	NA	defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]	NA	NA	12620395; 11780052; 15489334; 11854508
20	1115619	nonsynonymous	C	T	0.458333333333333	1	PSMF1	FALSE	Q92530	reviewed	Proteasome inhibitor PI31 subunit (hPI31)	PSMF1	5 out of 5	NA	anaphase-promoting complex-dependent catabolic process [GO:0031145]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; Fc-epsilon receptor signaling pathway [GO:0038095]; MAPK cascade [GO:0000165]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of proteasomal protein catabolic process [GO:1901799]; negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle [GO:0051436]; NIK/NF-kappaB signaling [GO:0038061]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of ubiquitin-protein ligase activity involved in regulation of mitotic cell cycle transition [GO:0051437]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]; regulation of cellular amino acid metabolic process [GO:0006521]; regulation of mRNA stability [GO:0043488]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; T cell receptor signaling pathway [GO:0050852]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; ubiquitin-dependent protein catabolic process [GO:0006511]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]	NA	NA	10764772; 11780052; 15489334; 18669648; 19690332; 20068231; 21269460; 21406692; 22223895; 23186163; 24275569; 25944712; 18495667
20	47558417	nonsynonymous	C	T	0.608695652173913	1	ARFGEF2	TRUE	Q9Y6D5	reviewed	Brefeldin A-inhibited guanine nucleotide-exchange protein 2 (Brefeldin A-inhibited GEP 2) (ADP-ribosylation factor guanine nucleotide-exchange factor 2)	ARFGEF2 ARFGEP2 BIG2	5 out of 5	TISSUE SPECIFICITY: Expressed in placenta, lung, heart, brain, kidney and pancreas.	endomembrane system organization [GO:0010256]; endosome organization [GO:0007032]; exocytosis [GO:0006887]; Golgi to plasma membrane transport [GO:0006893]; intracellular signal transduction [GO:0035556]; positive regulation of tumor necrosis factor production [GO:0032760]; protein transport [GO:0015031]; receptor recycling [GO:0001881]; regulation of ARF protein signal transduction [GO:0032012]	DISEASE: Periventricular nodular heterotopia 2 (PVNH2) [MIM:608097]: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2. {ECO:0000269|PubMed:14647276}. Note=The disease is caused by mutations affecting the gene represented in this entry.	98892;	10212200; 11780052; 10716990; 12051703; 12571360; 15385626; 15705715; 17081983; 16866877; 16477018; 17276987; 17640864; 17360629; 18625701; 18691976; 18669648; 19413330; 19369195; 19332778; 19690332; 20360857; 20068231; 21269460; 21406692; 22814378; 23186163; 24275569; 14647276; 16959974; 23033978
20	49576664	nonsynonymous	T	G	0.590909090909091	0	MOCS3	TRUE	O95396	reviewed	Adenylyltransferase and sulfurtransferase MOCS3 (Molybdenum cofactor synthesis protein 3) (Molybdopterin synthase sulfurylase) (MPT synthase sulfurylase) [Includes: Molybdopterin-synthase adenylyltransferase (EC 2.7.7.80) (Adenylyltransferase MOCS3) (Sulfur carrier protein MOCS2A adenylyltransferase); Molybdopterin-synthase sulfurtransferase (EC 2.8.1.11) (Sulfur carrier protein MOCS2A sulfurtransferase) (Sulfurtransferase MOCS3)]	MOCS3 UBA4	5 out of 5	NA	enzyme active site formation via cysteine modification to L-cysteine persulfide [GO:0018192]; molybdopterin cofactor biosynthetic process [GO:0032324]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; protein urmylation [GO:0032447]; tRNA thio-modification [GO:0034227]; tRNA wobble position uridine thiolation [GO:0002143]; tRNA wobble uridine modification [GO:0002098]	NA	NA	15073332; 11780052; 15489334; 15910006; 17459099; 18650437; 19017811; 21269460; 
20	55026995	nonsynonymous	G	A	0.5	0	CASS4	TRUE	Q9NQ75	reviewed	Cas scaffolding protein family member 4 (HEF-like protein) (HEF1-EFS-p130Cas-like protein) (HEPL)	CASS4 C20orf32 HEFL	5 out of 5	TISSUE SPECIFICITY: Expressed abundantly in lung and spleen. Also highly expressed in ovarian and leukemia cell lines. {ECO:0000269|PubMed:18256281}.	cell adhesion [GO:0007155]	NA	NA	14702039; 11780052; 15489334; 18088087; 18256281; 23186163; 
20	62250651	nonsynonymous	C	T	0.35	1	GMEB2	TRUE	Q9UKD1	reviewed	Glucocorticoid modulatory element-binding protein 2 (GMEB-2) (DNA-binding protein p79PIF) (Parvovirus initiation factor p79) (PIF p79)	GMEB2 KIAA1269	5 out of 5	TISSUE SPECIFICITY: Expressed in peripheral blood lymphocytes and fetal liver. Expressed preferentially in reproductive and/or developmentally important cells, such as testis, placenta, bone marrow and fetal tissues.	regulation of transcription from RNA polymerase II promoter [GO:0006357]; transcription from RNA polymerase II promoter [GO:0006366]	NA	NA	10523663; 10574462; 11780052; 15489334; 17974005; 19690332; 24275569; 25114211
21	30963448	nonsynonymous	A	G	0.592592592592593	1	GRIK1	TRUE	P39086	reviewed	Glutamate receptor ionotropic, kainate 1 (GluK1) (Excitatory amino acid receptor 3) (EAA3) (Glutamate receptor 5) (GluR-5) (GluR5)	GRIK1 GLUR5	5 out of 5	TISSUE SPECIFICITY: Most abundant in the cerebellum and the suprachiasmatic nuclei (SCN) of the hypothalamus.	central nervous system development [GO:0007417]; glutamate receptor signaling pathway [GO:0007215]; nervous system development [GO:0007399]; regulation of synaptic transmission, glutamatergic [GO:0051966]; synaptic transmission [GO:0007268]; transport [GO:0006810]	NA	NA	8260617; 8589992; 7696618; 11702055
21	41137503	nonsynonymous	G	A	0.565217391304348	0	IGSF5	TRUE	Q9NSI5	reviewed	Immunoglobulin superfamily member 5 (IgSF5) (Junctional adhesion molecule 4) (JAM-4)	IGSF5 JAM4	4 out of 5	NA	single organismal cell-cell adhesion [GO:0016337]	NA	NA	14702039; 10830953; 22042635
22	18566288	nonsynonymous	C	G	0.4	0.9	PEX26	TRUE	Q7Z412	reviewed	Peroxisome assembly protein 26 (Peroxin-26)	PEX26	5 out of 5	TISSUE SPECIFICITY: Widely expressed. Highly expressed in kidney, liver, brain and skeletal muscles. Expressed at intermediate level in pancreas, placenta and heart. Weakly expressed in lung. {ECO:0000269|PubMed:12851857}.	protein import into peroxisome matrix [GO:0016558]; protein import into peroxisome membrane [GO:0045046]	DISEASE: Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:12851857, ECO:0000269|PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269|PubMed:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269|PubMed:12717447, ECO:0000269|PubMed:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.	772;44;912;	12717447; 12851857; 14702039; 15461802; 10591208; 15489334; 10737800; 19105186; 22814378; 25944712
22	21383429	nonsynonymous	A	T	0.380952380952381	1	SLC7A4	TRUE	O43246	reviewed	Cationic amino acid transporter 4 (CAT-4) (CAT4) (Solute carrier family 7 member 4)	SLC7A4	4 out of 5	NA	cellular amino acid metabolic process [GO:0006520]; transport [GO:0006810]	NA	NA	9598310; 15461802; 15489334
22	32756460	nonsynonymous	G	C	0.548387096774194	1	RFPL3	TRUE	O75679	reviewed	Ret finger protein-like 3	RFPL3	3 out of 5	NA	NA	NA	NA	10508838; 15461802; 10591208; 15489334
22	32756460	nonsynonymous	G	C	0.548387096774194	1	RFPL3S	TRUE	P0C7P2	reviewed	Putative protein RFPL3S (RFPL3 antisense RNA 1) (RFPL3 antisense gene protein 1) (Ret finger protein-like 3 antisense gene protein)	RFPL3S RFPL3-AS1	2 out of 5	TISSUE SPECIFICITY: Strongly expressed in the testis and weakly in brain, placenta and pancreas. {ECO:0000269|PubMed:10508838}.	NA	NA	NA	10508838; 15461802; 10591208
22	32804176	nonsynonymous	G	T	0.419354838709677	1	RTCB	TRUE	Q9Y3I0	reviewed	tRNA-splicing ligase RtcB homolog (EC 6.5.1.3)	RTCB C22orf28 HSPC117	5 out of 5	NA	in utero embryonic development [GO:0001701]; placenta development [GO:0001890]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]	NA	NA	12529303; 11042152; 10931946; 15461802; 14702039; 10591208; 15489334; 17974005; 15312650; 16236267; 21269460; 21311021; 23186163; 24275569; 24870230; 24608264; 25944712
22	33673125	nonsynonymous	C	T	0.409090909090909	1	LARGE1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
22	36122724	nonsynonymous	C	A	0.451612903225806	0.3	APOL5	TRUE	Q9BWW9	reviewed	Apolipoprotein L5 (Apolipoprotein L-V) (ApoL-V)	APOL5	3 out of 5	TISSUE SPECIFICITY: Low level of expression; detected in uterus, testis, skeletal muscle and stomach.	lipid metabolic process [GO:0006629]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]	NA	NA	11374903; 10591208
22	36688178	nonsynonymous	G	A	0.642857142857143	1	MYH9	TRUE	P35579	reviewed	Myosin-9 (Cellular myosin heavy chain, type A) (Myosin heavy chain 9) (Myosin heavy chain, non-muscle IIa) (Non-muscle myosin heavy chain A) (NMMHC-A) (Non-muscle myosin heavy chain IIa) (NMMHC II-a) (NMMHC-IIA)	MYH9	5 out of 5	TISSUE SPECIFICITY: In the kidney, expressed in the glomeruli. Also expressed in leukocytes. {ECO:0000269|PubMed:11752022, ECO:0000269|PubMed:1912569}.	actin cytoskeleton reorganization [GO:0031532]; actin filament-based movement [GO:0030048]; actomyosin structure organization [GO:0031032]; angiogenesis [GO:0001525]; blood vessel endothelial cell migration [GO:0043534]; cytokinesis [GO:0000910]; establishment of meiotic spindle localization [GO:0051295]; establishment of T cell polarity [GO:0001768]; integrin-mediated signaling pathway [GO:0007229]; in utero embryonic development [GO:0001701]; leukocyte migration [GO:0050900]; meiotic spindle organization [GO:0000212]; membrane protein ectodomain proteolysis [GO:0006509]; monocyte differentiation [GO:0030224]; myoblast fusion [GO:0007520]; negative regulation of actin filament severing [GO:1903919]; phagocytosis, engulfment [GO:0006911]; platelet aggregation [GO:0070527]; platelet formation [GO:0030220]; positive regulation of protein processing in phagocytic vesicle [GO:1903923]; protein transport [GO:0015031]; regulation of cell shape [GO:0008360]; uropod organization [GO:0032796]	DISEASE: May-Hegglin anomaly (MHA) [MIM:155100]: A disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes. appearing as highly parallel paracrystalline bodies. {ECO:0000269|PubMed:10973260, ECO:0000269|PubMed:12533692, ECO:0000269|PubMed:12792306}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Sebastian syndrome (SBS) [MIM:605249]: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are smaller and less organized than in May-Hegglin anomaly. {ECO:0000269|PubMed:12533692}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Fechtner syndrome (FTNS) [MIM:153640]: Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis. {ECO:0000269|PubMed:10973259, ECO:0000269|PubMed:11776386, ECO:0000269|PubMed:12533692, ECO:0000269|PubMed:12792306}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Alport syndrome, with macrothrombocytopenia (APSM) [MIM:153650]: An autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. {ECO:0000269|PubMed:11590545}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epstein syndrome (EPS) [MIM:153650]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis. {ECO:0000269|PubMed:11752022, ECO:0000269|PubMed:11935325, ECO:0000269|PubMed:12533692, ECO:0000269|PubMed:12792306, ECO:0000269|PubMed:16969870}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622]: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration. {ECO:0000269|PubMed:11023810}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Macrothrombocytopenia and progressive sensorineural deafness (MPSD) [MIM:600208]: An autosomal dominant disorder characterized by the association of macrothrombocytopathy and progressive sensorineural hearing loss without renal dysfunction. {ECO:0000269|PubMed:12621333}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures.; DISEASE: Note=Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD).	90635;182050;	15461802; 16106752; 17974005; 10591208; 1912569; 14702039; 1860190; 1967836; 12917436; 16139798; 17081983; 16964243; 17487921; 17925381; 19367720; 18088087; 18794856; 18794854; 18669648; 18318008; 19413330; 19177153; 19369195; 19690332; 19608861; 20052411; 20068231; 21269460; 21406692; 22229724; 22814378; 23186163; 24275569; 25944712; 11023810; 10973259; 10973260; 11590545; 11776386; 11935325; 11752022; 12649151; 12533692; 12792306; 12621333; 16969870; 16959974; 18059020
22	38221032	nonsynonymous	C	T	0.611111111111111	1	GALR3	TRUE	O60755	reviewed	Galanin receptor type 3 (GAL3-R) (GALR-3)	GALR3 GALNR3	5 out of 5	NA	adenylate cyclase-modulating G-protein coupled receptor signaling pathway [GO:0007188]; feeding behavior [GO:0007631]; learning or memory [GO:0007611]; negative regulation of adenylate cyclase activity [GO:0007194]; neuropeptide signaling pathway [GO:0007218]; phospholipase C-activating G-protein coupled receptor signaling pathway [GO:0007200]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; synaptic transmission [GO:0007268]	NA	NA	9722565; 9832121; 9928159; 10591208; 24517231; 25691535
22	39908419	nonsynonymous	C	T	0.333333333333333	1	MIEF1	TRUE	Q9NQG6	reviewed	Mitochondrial dynamics protein MID51 (Mitochondrial dynamics protein of 51 kDa) (Mitochondrial elongation factor 1) (Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like) (SMCR7-like protein)	MIEF1 MID51 SMCR7L	5 out of 5	TISSUE SPECIFICITY: Expression is relatively high in heart, skeletal muscle, pancreas and kidney. {ECO:0000269|PubMed:21701560}.	mitochondrial fission [GO:0000266]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of protein targeting to membrane [GO:0090314]	NA	NA	12529303; 14702039; 17974005; 10591208; 15489334; 18691976; 18669648; 21508961; 21701560; 23921378; 23186163; 23283981; 23530241; 24275569; 24515348
22	43539120	nonsynonymous	G	C	0.551724137931034	0.8	MCAT	TRUE	Q8IVS2	reviewed	Malonyl-CoA-acyl carrier protein transacylase, mitochondrial (MCT) (EC 2.3.1.39) (Mitochondrial malonyl CoA:ACP acyltransferase) (Mitochondrial malonyltransferase) ([Acyl-carrier-protein] malonyltransferase)	MCAT MT	5 out of 5	NA	fatty acid biosynthetic process [GO:0006633]; metabolic process [GO:0008152]	NA	NA	12529303; 14702039; 10591208; 15489334; 12882974; 21269460; 24275569; 25944712; 
22	45279003	nonsynonymous	G	A	0.466666666666667	1	PHF21B	TRUE	Q96EK2	reviewed	PHD finger protein 21B	PHF21B KIAA1661	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]	NA	NA	15461802; 14702039; 10591208; 15489334
22	46655925	nonsynonymous	T	C	0.458333333333333	0	PKDREJ	TRUE	Q9NTG1	reviewed	Polycystic kidney disease and receptor for egg jelly-related protein (PKD and REJ homolog)	PKDREJ	5 out of 5	TISSUE SPECIFICITY: Exclusively expressed in testis.	acrosome reaction [GO:0007340]; detection of mechanical stimulus [GO:0050982]	NA	NA	9949214; 10591208; 17974005; 11698076; 16959974
22	46773124	nonsynonymous	T	C	0.4	1	CELSR1	TRUE	Q9NYQ6	reviewed	Cadherin EGF LAG seven-pass G-type receptor 1 (Cadherin family member 9) (Flamingo homolog 2) (hFmi2)	CELSR1 CDHF9 FMI2	5 out of 5	NA	anterior/posterior pattern specification [GO:0009952]; apical protein localization [GO:0045176]; central nervous system development [GO:0007417]; establishment of body hair planar orientation [GO:0048105]; establishment of planar polarity [GO:0001736]; establishment of planar polarity of embryonic epithelium [GO:0042249]; G-protein coupled receptor signaling pathway [GO:0007186]; hair follicle development [GO:0001942]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; inner ear morphogenesis [GO:0042472]; lateral sprouting involved in lung morphogenesis [GO:0060490]; locomotory behavior [GO:0007626]; neural tube closure [GO:0001843]; neuron migration [GO:0001764]; orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis [GO:0060488]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; planar dichotomous subdivision of terminal units involved in lung branching morphogenesis [GO:0060489]; protein localization involved in establishment of planar polarity [GO:0090251]; regulation of actin cytoskeleton organization [GO:0032956]; Rho protein signal transduction [GO:0007266]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]; wound healing [GO:0042060]	DISEASE: Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. {ECO:0000269|PubMed:22095531}. Note=The disease may be caused by mutations affecting the gene represented in this entry.	NA	10716726; 10591208; 15489334; 18669648; 22095531
22	50682446	nonsynonymous	T	C	0.541666666666667	1	TUBGCP6	TRUE	Q96RT7	reviewed	Gamma-tubulin complex component 6 (GCP-6)	TUBGCP6 GCP6 KIAA1669	5 out of 5	NA	centrosome duplication [GO:0051298]; cytoplasmic microtubule organization [GO:0031122]; interphase microtubule nucleation by interphase microtubule organizing center [GO:0051415]; meiotic nuclear division [GO:0007126]; microtubule nucleation [GO:0007020]; mitotic spindle assembly [GO:0090307]	DISEASE: Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1) [MIM:251270]: A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. {ECO:0000269|PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.	2518;	11694571; 10591208; 11258795; 15489334; 21269460; 22279524
X	63444310	nonsynonymous	C	T	0.368421052631579	0.3	ASB12	TRUE	Q8WXK4	reviewed	Ankyrin repeat and SOCS box protein 12 (ASB-12)	ASB12	3 out of 5	NA	intracellular signal transduction [GO:0035556]; protein ubiquitination [GO:0016567]	NA	NA	14702039; 15772651; 15489334; 16325183
X	63488524	nonsynonymous	AG	TT	0.65625	0	MTMR8	TRUE	Q96EF0	reviewed	Myotubularin-related protein 8 (EC 3.1.3.-)	MTMR8	4 out of 5	NA	phosphatidylinositol dephosphorylation [GO:0046856]; regulation of autophagy [GO:0010506]	NA	NA	15772651; 15489334; 14702039; 16787938; 16959974
X	65835841	nonsynonymous	A	G	0.391304347826087	1	EDA2R	TRUE	Q9HAV5	reviewed	Tumor necrosis factor receptor superfamily member 27 (X-linked ectodysplasin-A2 receptor) (EDA-A2 receptor)	EDA2R TNFRSF27 XEDAR UNQ2448/PRO5727/PRO34080	5 out of 5	NA	ectodermal cell differentiation [GO:0010668]; epidermis development [GO:0008544]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; multicellular organism development [GO:0007275]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of JNK cascade [GO:0046330]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; tissue development [GO:0009888]; tumor necrosis factor-mediated signaling pathway [GO:0033209]	NA	181;	11039935; 12270937; 12975309; 15772651; 15489334
X	108708433	nonsynonymous	A	G	0.486486486486487	1	GUCY2F	TRUE	P51841	reviewed	Retinal guanylyl cyclase 2 (RETGC-2) (EC 4.6.1.2) (Guanylate cyclase 2F, retinal) (Guanylate cyclase F) (GC-F) (Rod outer segment membrane guanylate cyclase 2) (ROS-GC2)	GUCY2F GUC2F RETGC2	5 out of 5	TISSUE SPECIFICITY: Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells.	detection of light stimulus involved in visual perception [GO:0050908]; intracellular signal transduction [GO:0035556]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of rhodopsin mediated signaling pathway [GO:0022400]; visual perception [GO:0007601]	NA	NA	7777544; 15772651; 16959974; 17344846; 23033978
X	134986656	nonsynonymous	A	G	0.444444444444444	0	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	149931185	nonsynonymous	G	A	0.25	1	MTMR1	TRUE	Q13613	reviewed	Myotubularin-related protein 1 (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95) (Phosphatidylinositol-3-phosphate phosphatase) (EC 3.1.3.64)	MTMR1	5 out of 5	NA	phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]	NA	NA	9828128; 15772651; 9736772; 8640223; 11733541; 18669648; 21269460; 22223895; 23186163; 24275569; 27018598
