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	0.461538461538462	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	1564064	nonsynonymous	G	A	0.433333333333333	0.9	MIB2	TRUE	Q96AX9	reviewed	E3 ubiquitin-protein ligase MIB2 (EC 6.3.2.-) (Mind bomb homolog 2) (Novel zinc finger protein) (Novelzin) (Putative NF-kappa-B-activating protein 002N) (Skeletrophin) (Zinc finger ZZ type with ankyrin repeat domain protein 1)	MIB2 SKD ZZANK1	5 out of 5	TISSUE SPECIFICITY: Expressed in skeletal muscle, and to a lesser extent in heart, brain and kidney. {ECO:0000269|PubMed:14507647}.	Notch signaling pathway [GO:0007219]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein polyubiquitination [GO:0000209]	NA	NA	14507647; 12761501; 14702039; 16710414; 15489334; 17974005; 22814378; 23186163; 24275569
1	3413874	nonsynonymous	G	A	0.571428571428571	0.2	MEGF6	TRUE	O75095	reviewed	Multiple epidermal growth factor-like domains protein 6 (Multiple EGF-like domains protein 6) (Epidermal growth factor-like protein 3) (EGF-like protein 3)	MEGF6 EGFL3 KIAA0815	4 out of 5	NA	NA	NA	NA	9693030; 12168954; 16710414
1	9790660	nonsynonymous	T	C	0.583333333333333	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	9796038	nonsynonymous	C	T	0.391304347826087	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	12343030	nonsynonymous	T	C	0.518518518518518	1	VPS13D	TRUE	Q5THJ4	reviewed	Vacuolar protein sorting-associated protein 13D	VPS13D KIAA0453	3 out of 5	TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15498460}.	protein retention in Golgi apparatus [GO:0045053]; protein targeting to vacuole [GO:0006623]	NA	NA	15498460; 16710414; 9455484; 14702039; 17974005; 15489334; 18669648; 19690332; 19608861; 20068231; 21406692; 23186163; 24275569
1	12907518	nonsynonymous	TC	AA	0.282608695652174	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	0.282608695652174	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	0.282608695652174	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	0.243243243243243	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	0.205128205128205	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	17944934	nonsynonymous	C	T	0.52	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	24082402	nonsynonymous	G	A	0.541666666666667	1	TCEB3	TRUE	Q14241	reviewed	Transcription elongation factor B polypeptide 3 (Elongin 110 kDa subunit) (Elongin-A) (EloA) (RNA polymerase II transcription factor SIII subunit A1) (SIII p110)	TCEB3 MSTP059	5 out of 5	NA	regulation of transcription from RNA polymerase II promoter [GO:0006357]; transcription elongation from RNA polymerase II promoter [GO:0006368]; transcription from RNA polymerase II promoter [GO:0006366]	NA	NA	14702039; 16710414; 8654961; 15489334; 19690332; 20068231; 21269460; 22814378; 23186163
1	27676125	nonsynonymous	C	T	0.4	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	28806965	nonsynonymous	G	C	0.5	1	PHACTR4	TRUE	Q8IZ21	reviewed	Phosphatase and actin regulator 4	PHACTR4 PRO2963	4 out of 5	NA	actin cytoskeleton organization [GO:0030036]; closure of optic fissure [GO:0061386]; enteric nervous system development [GO:0048484]; negative regulation of integrin-mediated signaling pathway [GO:2001045]; neural crest cell migration [GO:0001755]; neural tube closure [GO:0001843]; positive regulation of catalytic activity [GO:0043085]; regulation of cell cycle [GO:0051726]; Rho protein signal transduction [GO:0007266]	NA	NA	14702039; 17974005; 16710414; 15489334; 17081983; 16964243; 18669648; 19413330; 19690332; 20068231; 21269460; 21406692; 23186163; 24275569
1	29587407	nonsynonymous	A	C	0.521739130434783	1	PTPRU	TRUE	Q92729	reviewed	Receptor-type tyrosine-protein phosphatase U (R-PTP-U) (EC 3.1.3.48) (Pancreatic carcinoma phosphatase 2) (PCP-2) (Protein-tyrosine phosphatase J) (PTP-J) (hPTP-J) (Protein-tyrosine phosphatase pi) (PTP pi) (Protein-tyrosine phosphatase receptor omicron) (PTP-RO) (Receptor-type protein-tyrosine phosphatase psi) (R-PTP-psi)	PTPRU FMI PCP2 PTPRO	5 out of 5	TISSUE SPECIFICITY: High levels in brain, pancreas, and skeletal muscle; less in colon, kidney, liver, stomach, and uterus; not expressed in placenta and spleen. Also detected in heart, prostate, lung, thymus, testis and ovary. Ubiquitously expressed in brain. Expressed by hematopoietic stem cells. {ECO:0000269|PubMed:8700514, ECO:0000269|PubMed:8870675, ECO:0000269|PubMed:9070223, ECO:0000269|PubMed:9434160}.	canonical Wnt signaling pathway [GO:0060070]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; homotypic cell-cell adhesion [GO:0034109]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; organ regeneration [GO:0031100]; protein dephosphorylation [GO:0006470]; protein localization to cell surface [GO:0034394]; response to glucocorticoid [GO:0051384]; single organismal cell-cell adhesion [GO:0016337]; transmembrane receptor protein tyrosine phosphatase signaling pathway [GO:0007185]	NA	NA	8870675; 8700514; 9070223; 9434160; 16710414; 15489334; 10395944; 10397721; 12501215; 16574648; 17622474; 19690332; 23186163; 16959974
1	40218695	nonsynonymous	G	A	0.393939393939394	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	70460304	nonsynonymous	A	G	0.464285714285714	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	82456107	nonsynonymous	G	C	0.5	1	ADGRL2	TRUE	O95490	reviewed	Adhesion G protein-coupled receptor L2 (Calcium-independent alpha-latrotoxin receptor 2) (CIRL-2) (Latrophilin homolog 1) (Latrophilin-2) (Lectomedin-1)	ADGRL2 KIAA0786 LEC1 LPHH1 LPHN2	5 out of 5	TISSUE SPECIFICITY: Expressed very widely in all normal tissues tested. Expression is variable in tumor cell lines, apparently elevated in some lines and absent or markedly reduced in others. {ECO:0000269|PubMed:10030676}.	cell surface receptor signaling pathway [GO:0007166]; G-protein coupled receptor signaling pathway [GO:0007186]	NA	NA	10030676; 10760572; 16710414; 9872452; 17456239; 19159218; 21269460; 21406692; 24275569; 25713288
1	95699829	nonsynonymous	A	G	0.454545454545455	1	TMEM56-RWDD3	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	95699829	nonsynonymous	A	G	0.454545454545455	1	RWDD3	TRUE	Q9Y3V2	reviewed	RWD domain-containing protein 3 (RWD domain-containing sumoylation enhancer) (RSUME)	RWDD3 RSUME	5 out of 5	TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in glioma tumors (at protein level). Expressed in a wide number of tissues with highest expression in cerebellum, pituitary, heart, kidney, liver, stomach, pancreas, prostate and spleen. Low levels in thalamus, spinal cord, esophagus, thymus, lung and peripheral blood leukocytes. A higher level expression seen in pituitary tumors as compared to the pituitary gland. {ECO:0000269|PubMed:17956732, ECO:0000269|PubMed:22009797, ECO:0000269|PubMed:23469069}.	negative regulation of NF-kappaB transcription factor activity [GO:0032088]; positive regulation of hypoxia-inducible factor-1alpha signaling pathway [GO:1902073]; positive regulation of protein sumoylation [GO:0033235]	NA	NA	11230166; 14702039; 16710414; 15489334; 17956732; 22009797; 23508108; 23469069; 25918163
1	99161184	nonsynonymous	C	A	0.578947368421053	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	0.346153846153846	0.1	MYBPHL	TRUE	A2RUH7	reviewed	Myosin-binding protein H-like	MYBPHL	2 out of 5	NA	NA	NA	NA	16710414; 15489334
1	118537142	nonsynonymous	T	C	0.454545454545455	1	SPAG17	TRUE	Q6Q759	reviewed	Sperm-associated antigen 17 (Projection protein PF6 homolog)	SPAG17	4 out of 5	TISSUE SPECIFICITY: Highly expressed in testis. Expressed in organs that contain cilia-bearing cells including brain, oviduct, lung, and uterus. {ECO:0000269|PubMed:15827353}.	axoneme assembly [GO:0035082]; cilium movement [GO:0003341]	NA	NA	15827353; 16710414; 14702039; 17974005; 16959974
1	119964933	nonsynonymous	T	C	0.478260869565217	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	0.5	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	0.5	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	0.5	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	0.3125	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	0.3125	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	0.3125	0	NBPF25P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	146395390	nonsynonymous	A	C	0.3125	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	151006406	nonsynonymous	C	G	0.590909090909091	1	PRUNE1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	153431435	nonsynonymous	T	G	0.555555555555556	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	155175089	nonsynonymous	C	T	0.444444444444444	1	THBS3	TRUE	P49746	reviewed	Thrombospondin-3	THBS3 TSP3	5 out of 5	NA	bone trabecula formation [GO:0060346]; cell-matrix adhesion [GO:0007160]; growth plate cartilage development [GO:0003417]; ossification involved in bone maturation [GO:0043931]	NA	NA	7558000; 14702039; 16710414; 9331372; 15489334; 24275569; 16959974
1	156830779	nonsynonymous	G	A	0.473684210526316	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	156843439	nonsynonymous	C	A	0.5	0	NTRK1	TRUE	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	0.625	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	171303836	nonsynonymous	G	A	0.48	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	0.315789473684211	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	186092103	nonsynonymous	C	T	0.541666666666667	0.9	HMCN1	TRUE	Q96RW7	reviewed	Hemicentin-1 (Fibulin-6) (FIBL-6)	HMCN1 FIBL6	5 out of 5	TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in skin fibroblasts and retinal pigment epithelium (RPE) cells. {ECO:0000269|PubMed:14570714}.	response to stimulus [GO:0050896]; visual perception [GO:0007601]	DISEASE: Macular degeneration, age-related, 1 (ARMD1) [MIM:603075]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269|PubMed:14570714}. Note=The disease is caused by mutations affecting the gene represented in this entry.	279;	14702039; 16710414; 14570714
1	186946869	nonsynonymous	A	G	0.615384615384615	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	0.619047619047619	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	0.523809523809524	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	203767803	nonsynonymous	G	A	0.653846153846154	0	ZC3H11A	FALSE	O75152	reviewed	Zinc finger CCCH domain-containing protein 11A	ZC3H11A KIAA0663 ZC3HDC11A	5 out of 5	NA	mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; poly(A)+ mRNA export from nucleus [GO:0016973]; RNA export from nucleus [GO:0006405]; termination of RNA polymerase II transcription [GO:0006369]	NA	NA	9734811; 17974005; 15489334; 17081983; 16964243; 18669648; 19413330; 19690332; 19608861; 20844015; 20068231; 21269460; 21406692; 22928037; 23186163; 24275569; 25218447
1	203767803	nonsynonymous	G	A	0.653846153846154	0	ZBED6	TRUE	P86452	reviewed	Zinc finger BED domain-containing protein 6	ZBED6	3 out of 5	NA	negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transcription from RNA polymerase II promoter [GO:0006357]; transcription, DNA-templated [GO:0006351]	NA	NA	16710414; 20016685
1	210857261	nonsynonymous	C	T	0.571428571428571	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	226570767	nonsynonymous	G	A	0.5	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	229787030	nonsynonymous	G	A	0.552631578947368	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	242048680	nonsynonymous	G	A	0.384615384615385	0.3	EXO1	TRUE	Q9UQ84	reviewed	Exonuclease 1 (hExo1) (EC 3.1.-.-) (Exonuclease I) (hExoI)	EXO1 EXOI HEX1	5 out of 5	TISSUE SPECIFICITY: Highly expressed in bone marrow, testis and thymus. Expressed at lower levels in colon, lymph nodes, ovary, placenta, prostate, small intestine, spleen and stomach. {ECO:0000269|PubMed:10856833, ECO:0000269|PubMed:9685493, ECO:0000269|PubMed:9788596, ECO:0000269|PubMed:9823303}.	DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA synthesis involved in DNA repair [GO:0000731]; humoral immune response mediated by circulating immunoglobulin [GO:0002455]; isotype switching [GO:0045190]; meiotic cell cycle [GO:0051321]; mismatch repair [GO:0006298]; regulation of signal transduction by p53 class mediator [GO:1901796]; somatic hypermutation of immunoglobulin genes [GO:0016446]; strand displacement [GO:0000732]	NA	NA	9788596; 9823303; 9685493; 10364235; 16710414; 15489334; 17974005; 10608837; 10856833; 11427529; 11429708; 12414623; 11809771; 11842105; 14623461; 12704184; 14636568; 15225546; 14676842; 16143102; 15886194; 17426132; 17525332; 18048416; 18669648; 19413330; 23186163; 11375940; 12517792; 14756672; 15550454
1	245850513	nonsynonymous	C	G	0.454545454545455	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	0.409090909090909	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	0.409090909090909	0	OR2L1P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
1	248801610	nonsynonymous	GC	AT	1	0	OR2T35	TRUE	Q8NGX2	reviewed	Olfactory receptor 2T35 (Olfactory receptor OR1-66)	OR2T35	3 out of 5	NA	G-protein coupled receptor signaling pathway [GO:0007186]; sensory perception of smell [GO:0007608]	NA	NA	14983052
2	26533898	nonsynonymous	C	T	0.590909090909091	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	44223023	nonsynonymous	G	C	0.409090909090909	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	0.458333333333333	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	84940276	nonsynonymous	A	G	0.478260869565217	0.9	DNAH6	TRUE	Q9C0G6	reviewed	Dynein heavy chain 6, axonemal (Axonemal beta dynein heavy chain 6) (Ciliary dynein heavy chain 6)	DNAH6 DNAHC6 DNHL1 HL2 KIAA1697	4 out of 5	TISSUE SPECIFICITY: Detected in brain, testis and trachea. {ECO:0000269|PubMed:11175280}.	cilium or flagellum-dependent cell motility [GO:0001539]; microtubule-based movement [GO:0007018]	NA	NA	14702039; 17974005; 15815621; 15489334; 8812413; 11175280; 11214970; 
2	85043186	nonsynonymous	G	A	0.48	1	DNAH6	TRUE	Q9C0G6	reviewed	Dynein heavy chain 6, axonemal (Axonemal beta dynein heavy chain 6) (Ciliary dynein heavy chain 6)	DNAH6 DNAHC6 DNHL1 HL2 KIAA1697	4 out of 5	TISSUE SPECIFICITY: Detected in brain, testis and trachea. {ECO:0000269|PubMed:11175280}.	cilium or flagellum-dependent cell motility [GO:0001539]; microtubule-based movement [GO:0007018]	NA	NA	14702039; 17974005; 15815621; 15489334; 8812413; 11175280; 11214970; 
2	107073489	nonsynonymous	C	T	0.333333333333333	1	RGPD3	TRUE	A6NKT7	reviewed	RanBP2-like and GRIP domain-containing protein 3	RGPD3 RGP3	2 out of 5	NA	protein targeting to Golgi [GO:0000042]	NA	NA	15815621; 15710750
2	113251880	nonsynonymous	G	A	0.5	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	114354007	nonsynonymous	T	C	0.538461538461538	1	WASH2P	TRUE	Q6VEQ5	reviewed	WAS protein family homolog 2 (CXYorf1-like protein on chromosome 2) (Protein FAM39B)	WASH2P FAM39B	4 out of 5	NA	Arp2/3 complex-mediated actin nucleation [GO:0034314]; endosomal transport [GO:0016197]; protein transport [GO:0015031]; retrograde transport, endosome to Golgi [GO:0042147]	NA	NA	15815621; 15233989; 10655549; 18159949
2	131414410	nonsynonymous	G	C	0.342857142857143	1	POTEJ	TRUE	P0CG39	reviewed	POTE ankyrin domain family member J	POTEJ	3 out of 5	NA	retina homeostasis [GO:0001895]	NA	NA	15815621
2	133540714	nonsynonymous	G	A	0.35	0	NCKAP5	TRUE	O14513	reviewed	Nck-associated protein 5 (NAP-5) (Peripheral clock protein)	NCKAP5 ERIH NAP5	4 out of 5	TISSUE SPECIFICITY: Expressed in fetal and adult brain, leukocytes and fetal fibroblasts.	NA	NA	NA	14702039; 15815621; 15489334; 9344857; 19690332; 23186163
2	162890142	nonsynonymous	C	T	0.461538461538462	1	DPP4	TRUE	P27487	reviewed	Dipeptidyl peptidase 4 (EC 3.4.14.5) (ADABP) (Adenosine deaminase complexing protein 2) (ADCP-2) (Dipeptidyl peptidase IV) (DPP IV) (T-cell activation antigen CD26) (TP103) (CD antigen CD26) [Cleaved into: Dipeptidyl peptidase 4 membrane form (Dipeptidyl peptidase IV membrane form); Dipeptidyl peptidase 4 soluble form (Dipeptidyl peptidase IV soluble form)]	DPP4 ADCP2 CD26	5 out of 5	TISSUE SPECIFICITY: Expressed specifically in lymphatic vessels but not in blood vessels in the skin, small intestine, esophagus, ovary, breast and prostate glands. Not detected in lymphatic vessels in the lung, kidney, uterus, liver and stomach (at protein level). Expressed in the poorly differentiated crypt cells of the small intestine as well as in the mature villous cells. Expressed at very low levels in the colon. {ECO:0000269|PubMed:1677636, ECO:0000269|PubMed:18708048}.	behavioral fear response [GO:0001662]; endothelial cell migration [GO:0043542]; locomotory exploration behavior [GO:0035641]; negative regulation of extracellular matrix disassembly [GO:0010716]; positive regulation of cell proliferation [GO:0008284]; psychomotor behavior [GO:0036343]; regulation of cell-cell adhesion mediated by integrin [GO:0033632]; response to hypoxia [GO:0001666]; T cell activation [GO:0042110]; T cell costimulation [GO:0031295]	NA	NA	1352704; 1347043; 1352530; 7927537; 19054851; 15815621; 15489334; 1977364; 7487939; 1677636; 10951221; 17549790; 8096237; 8101391; 7907293; 8526932; 9413751; 10570924; 10593948; 11027426; 10880264; 10900005; 11772392; 11773049; 12676959; 15448155; 14691230; 16335952; 16651416; 17287217; 18708048; 19557413; 19159218; 21269460; 23486063; 24275569; 12832764; 12646248; 12483204; 12906826; 20684603
2	170387940	nonsynonymous	G	A	0.535714285714286	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	0.263157894736842	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	178740622	nonsynonymous	A	C	0.5	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	219505465	nonsynonymous	G	A	0.428571428571429	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	0.576923076923077	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	0.5	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	234590969	nonsynonymous	ATGACCG	GGGACAA	0.5	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	0.5	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	0.5	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	0.5	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	0.466666666666667	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	0.666666666666667	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	0.444444444444444	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	0.45	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	0.619047619047619	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	0.333333333333333	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	53845236	nonsynonymous	G	A	0.625	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	97677974	nonsynonymous	G	A	0.576923076923077	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	0.5	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	124377326	nonsynonymous	T	G	0.36	1	KALRN	TRUE	O60229	reviewed	Kalirin (EC 2.7.11.1) (Huntingtin-associated protein-interacting protein) (Protein Duo) (Serine/threonine-protein kinase with Dbl- and pleckstrin homology domain)	KALRN DUET DUO HAPIP TRAD	5 out of 5	TISSUE SPECIFICITY: Isoform 2 is brain specific. Highly expressed in cerebral cortex, putamen, amygdala, hippocampus and caudate nucleus. Weakly expressed in brain stem and cerebellum. Isoform 4 is expressed in skeletal muscle. {ECO:0000269|PubMed:10023074}.	ephrin receptor signaling pathway [GO:0048013]; intracellular signal transduction [GO:0035556]; nervous system development [GO:0007399]; positive regulation of apoptotic process [GO:0043065]; protein phosphorylation [GO:0006468]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]; vesicle-mediated transport [GO:0016192]	DISEASE: Coronary heart disease 5 (CHDS5) [MIM:608901]: A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. {ECO:0000269|PubMed:17357071}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.	NA	9285789; 10023074; 14702039; 16641997; 15489334; 17974005; 17357071; 18088087; 18669648; 19807924; 22738176; 16959974; 17344846
3	126741108	nonsynonymous	G	A	0.666666666666667	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	155546124	nonsynonymous	C	T	0.45	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	0.72	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	0.5	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	184073238	nonsynonymous	G	A	0.533333333333333	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
4	338198	nonsynonymous	AAGATCGT	GAAACAGC	0.314285714285714	0.1	ZNF141	TRUE	Q15928	reviewed	Zinc finger protein 141	ZNF141 D4S90	4 out of 5	TISSUE SPECIFICITY: Ubiquitously low expression.	anatomical structure morphogenesis [GO:0009653]; limb morphogenesis [GO:0035108]; regulation of transcription, DNA-templated [GO:0006355]; transcription from RNA polymerase II promoter [GO:0006366]	DISEASE: Polydactyly, postaxial A6 (PAPA6) [MIM:615226]: A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. {ECO:0000269|PubMed:23160277}. Note=The disease is caused by mutations affecting the gene represented in this entry.	295165;	8268908; 15489334; 23160277
4	2306871	nonsynonymous	C	T	0.636363636363636	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	6599928	nonsynonymous	C	A	0.464285714285714	1	MAN2B2	TRUE	Q9Y2E5	reviewed	Epididymis-specific alpha-mannosidase (EC 3.2.1.24) (Mannosidase alpha class 2B member 2)	MAN2B2 KIAA0935	5 out of 5	NA	mannose metabolic process [GO:0006013]; oligosaccharide catabolic process [GO:0009313]; protein deglycosylation [GO:0006517]	NA	NA	17974005; 15815621; 15489334; 10231032; 19159218
4	76704004	nonsynonymous	T	C	0.388888888888889	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	0.578947368421053	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
5	5239309	nonsynonymous	G	A	0.666666666666667	0	ADAMTS16	TRUE	Q8TE57	reviewed	A disintegrin and metalloproteinase with thrombospondin motifs 16 (ADAM-TS 16) (ADAM-TS16) (ADAMTS-16) (EC 3.4.24.-)	ADAMTS16 KIAA2029	5 out of 5	TISSUE SPECIFICITY: Expressed in fetal lung and kidney and in adult prostate and ovary.	branching involved in ureteric bud morphogenesis [GO:0001658]; regulation of cilium assembly [GO:1902017]; regulation of systemic arterial blood pressure [GO:0003073]	NA	NA	11867212; 15372022; 
5	33462017	nonsynonymous	A	G	0.484848484848485	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	37153871	nonsynonymous	G	T	0.347826086956522	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	0.482758620689655	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	0.5	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	89969880	nonsynonymous	A	G	0.666666666666667	1	ADGRV1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
5	131925483	nonsynonymous	G	C	0.533333333333333	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	133644012	nonsynonymous	A	G	0.434782608695652	0	CDKL3	TRUE	Q8IVW4	reviewed	Cyclin-dependent kinase-like 3 (EC 2.7.11.22) (Serine/threonine-protein kinase NKIAMRE)	CDKL3 NKIAMRE	5 out of 5	NA	cellular protein modification process [GO:0006464]	NA	NA	15489334; 17344846
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA1	FALSE	Q9Y5I3	reviewed	Protocadherin alpha-1 (PCDH-alpha-1)	PCDHA1	5 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; 15372022
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA2	FALSE	Q9Y5H9	reviewed	Protocadherin alpha-2 (PCDH-alpha-2)	PCDHA2	5 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; 15372022; 15489334; 12665801
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA3	FALSE	Q9Y5H8	reviewed	Protocadherin alpha-3 (PCDH-alpha-3)	PCDHA3	5 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; 15372022
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA4	FALSE	Q9UN74	reviewed	Protocadherin alpha-4 (PCDH-alpha-4)	PCDHA4	5 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; 15372022; 15489334
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA5	FALSE	Q9Y5H7	reviewed	Protocadherin alpha-5 (PCDH-alpha-5)	PCDHA5 CNRS6	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; 15372022; 15489334
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA6	FALSE	Q9UN73	reviewed	Protocadherin alpha-6 (PCDH-alpha-6)	PCDHA6 CNRS2	5 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; 15372022; 15489334
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA7	FALSE	Q9UN72	reviewed	Protocadherin alpha-7 (PCDH-alpha-7)	PCDHA7 CNRS4	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; 15372022
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA8	FALSE	Q9Y5H6	reviewed	Protocadherin alpha-8 (PCDH-alpha-8)	PCDHA8	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; 15372022; 15489334
5	140228366	nonsynonymous	T	G	0.521739130434783	1	PCDHA9	TRUE	Q9Y5H5	reviewed	Protocadherin alpha-9 (PCDH-alpha-9)	PCDHA9 KIAA0345	5 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 9205841; 15372022; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA1	FALSE	Q9Y5H4	reviewed	Protocadherin gamma-A1 (PCDH-gamma-A1)	PCDHGA1	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA2	FALSE	Q9Y5H1	reviewed	Protocadherin gamma-A2 (PCDH-gamma-A2)	PCDHGA2	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA3	FALSE	Q9Y5H0	reviewed	Protocadherin gamma-A3 (PCDH-gamma-A3)	PCDHGA3	4 out of 5	NA	endosome to lysosome transport [GO:0008333]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; lipid tube assembly involved in organelle fusion [GO:0060989]	NA	NA	10380929; 15372022
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGB1	FALSE	Q9Y5G3	reviewed	Protocadherin gamma-B1 (PCDH-gamma-B1)	PCDHGB1	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA4	FALSE	Q9Y5G9	reviewed	Protocadherin gamma-A4 (PCDH-gamma-A4)	PCDHGA4	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGB2	FALSE	Q9Y5G2	reviewed	Protocadherin gamma-B2 (PCDH-gamma-B2)	PCDHGB2	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA5	FALSE	Q9Y5G8	reviewed	Protocadherin gamma-A5 (PCDH-gamma-A5)	PCDHGA5	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGB3	FALSE	Q9Y5G1	reviewed	Protocadherin gamma-B3 (PCDH-gamma-B3)	PCDHGB3	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15372022; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA6	FALSE	Q9Y5G7	reviewed	Protocadherin gamma-A6 (PCDH-gamma-A6)	PCDHGA6	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA7	FALSE	Q9Y5G6	reviewed	Protocadherin gamma-A7 (PCDH-gamma-A7)	PCDHGA7	3 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGB4	FALSE	Q9UN71	reviewed	Protocadherin gamma-B4 (PCDH-gamma-B4) (Cadherin-20) (Fibroblast cadherin-2)	PCDHGB4 CDH20 FIB2	4 out of 5	NA	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell adhesion [GO:0007155]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 15489334; 9199196
5	140773111	nonsynonymous	A	G	0.375	0	PCDHGA8	TRUE	Q9Y5G5	reviewed	Protocadherin gamma-A8 (PCDH-gamma-A8)	PCDHGA8 KIAA0327	4 out of 5	NA	homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]	NA	NA	10380929; 9205841; 15489334
5	149784658	nonsynonymous	A	G	0.347826086956522	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	0.521739130434783	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	0.464285714285714	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	156514189	nonsynonymous	G	A	0.5	0	HAVCR2	TRUE	Q8TDQ0	reviewed	Hepatitis A virus cellular receptor 2 (HAVcr-2) (T-cell immunoglobulin and mucin domain-containing protein 3) (TIMD-3) (T-cell immunoglobulin mucin receptor 3) (TIM-3) (T-cell membrane protein 3)	HAVCR2 TIM3 TIMD3	5 out of 5	TISSUE SPECIFICITY: Expressed in T-helper type 1 (Th1) lymphocytes. Expressed on regulatory T (Treg) cells after TCR stimulation. Expressed in dendritic cells and natural killer (NK) cells. Expressed in epithelial tissues. Expression is increased on CD4+ and CD8+ T-cells in chronic hepatitis C virus (HCV) infection. In progressive HIV-1 infection, expression is up-regulated on HIV-1-specific CD8 T-cells. {ECO:0000269|PubMed:11823861, ECO:0000269|PubMed:17069754, ECO:0000269|PubMed:18006747, ECO:0000269|PubMed:19001139, ECO:0000269|PubMed:19587053, ECO:0000269|PubMed:22323453, ECO:0000269|PubMed:22383801, ECO:0000269|PubMed:24838857}.	adaptive immune response [GO:0002250]; cellular response to lipopolysaccharide [GO:0071222]; defense response to Gram-positive bacterium [GO:0050830]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; macrophage activation involved in immune response [GO:0002281]; maternal process involved in female pregnancy [GO:0060135]; natural killer cell tolerance induction [GO:0002519]; negative regulation of defense response to bacterium [GO:1900425]; negative regulation of gene expression [GO:0010629]; negative regulation of granulocyte colony-stimulating factor production [GO:0071656]; negative regulation of immunological synapse formation [GO:2000521]; negative regulation of interferon-alpha production [GO:0032687]; negative regulation of interferon-gamma production [GO:0032689]; negative regulation of interleukin-2 production [GO:0032703]; negative regulation of interleukin-3 production [GO:0032712]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of myeloid dendritic cell activation [GO:0030886]; negative regulation of natural killer cell activation [GO:0032815]; negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002859]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell [GO:2001189]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of T-helper 1 type immune response [GO:0002826]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of chemokine production [GO:0032722]; positive regulation of defense response to bacterium [GO:1900426]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-1 production [GO:0032732]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of macrophage activation [GO:0043032]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tumor necrosis factor secretion [GO:1904469]; regulation of tolerance induction dependent upon immune response [GO:0002652]; toll-like receptor 3 signaling pathway [GO:0034138]; toll-like receptor 7 signaling pathway [GO:0034154]; toll-like receptor 9 signaling pathway [GO:0034162]	DISEASE: Note=May be involved in T-cell exhaustion associated with chronic viral infections such as with human immunodeficiency virus (HIV) and hepatitic C virus (HCV). {ECO:0000269|PubMed:19001139, ECO:0000269|PubMed:19587053}.	NA	11823861; 14702039; 15372022; 15489334; 14556005; 16286920; 17069754; 18006747; 19001139; 19587053; 20083673; 22171320; 22323453; 22383801; 23555261; 24838857; 24825777; 24337741; 26492563
5	176072210	nonsynonymous	G	A	0.36	1	EIF4E1B	TRUE	A6NMX2	reviewed	Eukaryotic translation initiation factor 4E type 1B	EIF4E1B	2 out of 5	NA	regulation of translation [GO:0006417]	NA	NA	15372022; 16191198
5	180045911	nonsynonymous	G	A	0.6	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	0.416666666666667	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	26452211	nonsynonymous	C	T	0.5	0	BTN3A3	TRUE	O00478	reviewed	Butyrophilin subfamily 3 member A3	BTN3A3 BTF3	5 out of 5	TISSUE SPECIFICITY: Detected in peripheral blood mononuclear cells and in T-cells (at protein level). Detected in spleen and lymphocytes. {ECO:0000269|PubMed:20610803}.	T cell mediated immunity [GO:0002456]	NA	NA	9149941; 14702039; 14574404; 15489334; 15340161; 19349973; 20610803; 21918970; 22767497; 24275569; 22846996
6	29523797	nonsynonymous	C	T	0.625	0	UBD	TRUE	O15205	reviewed	Ubiquitin D (Diubiquitin) (Ubiquitin-like protein FAT10)	UBD FAT10	5 out of 5	TISSUE SPECIFICITY: Constitutively expressed in mature dendritic cells and B-cells. Mostly expressed in the reticuloendothelial system (e.g. thymus, spleen), the gastrointestinal system, kidney, lung and prostate gland. {ECO:0000269|PubMed:12730673, ECO:0000269|PubMed:9368598}.	aggresome assembly [GO:0070842]; myeloid dendritic cell differentiation [GO:0043011]; positive regulation of apoptotic process [GO:0043065]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; protein modification by small protein conjugation [GO:0032446]; protein ubiquitination [GO:0016567]; proteolysis [GO:0006508]; response to interferon-gamma [GO:0034341]; response to organonitrogen compound [GO:0010243]; response to tumor necrosis factor [GO:0034612]; ubiquitin-dependent protein catabolic process [GO:0006511]	NA	NA	9368598; 10200259; 14574404; 15489334; 12730673; 14757770; 15831455; 16959044; 16495380; 16495226; 16707496; 16501612; 17889673; 19033385; 18574467; 19166848; 19028597; 19726511; 19437562; 19959714
6	29911901	nonsynonymous	C	G	0.48	0	HLA-A	TRUE	P04439	P30443	P01892	P13746	P18462	P16190	P30455	P30457	P01891	P30450
6	29911928	nonsynonymous	CCCA	GCTG	0.35	0	HLA-A	TRUE	P04439	P30443	P01892	P13746	P18462	P16190	P30455	P30457	P01891	P30450
6	30672990	nonsynonymous	T	G	0.3	0	MDC1	TRUE	Q14676	reviewed	Mediator of DNA damage checkpoint protein 1 (Nuclear factor with BRCT domains 1)	MDC1 KIAA0170 NFBD1	5 out of 5	TISSUE SPECIFICITY: Highly expressed in testis. {ECO:0000269|PubMed:12499369}.	double-strand break repair via nonhomologous end joining [GO:0006303]; intra-S DNA damage checkpoint [GO:0031573]; protein sumoylation [GO:0016925]	NA	NA	8724849; 17974005; 16702430; 14574404; 15489334; 14695167; 12475977; 12499369; 12551934; 12611903; 12607003; 12607004; 12607005; 15279781; 15201865; 15377652; 17081983; 17693683; 17525332; 18006705; 18283122; 18220336; 18669648; 19413330; 19690332; 19608861; 20008512; 20068231; 21406692; 22635276; 23186163; 24275569; 25218447; 25114211; 16377563; 16049003; 20159462; 22139841; 22234877
6	30672990	nonsynonymous	T	G	0.3	0	MDC1-AS1	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
6	31939898	nonsynonymous	C	T	0.476190476190476	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	0.476190476190476	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	86200277	nonsynonymous	T	A	0.333333333333333	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	132891756	nonsynonymous	A	G	0.583333333333333	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	0.470588235294118	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	143823527	nonsynonymous	T	G	0.388888888888889	0.9	FUCA2	TRUE	Q9BTY2	reviewed	Plasma alpha-L-fucosidase (EC 3.2.1.51) (Alpha-L-fucoside fucohydrolase 2) (Alpha-L-fucosidase 2)	FUCA2 PSEC0151 UNQ227/PRO260	5 out of 5	NA	fucose metabolic process [GO:0006004]; glycoside catabolic process [GO:0016139]; regulation of entry of bacterium into host cell [GO:2000535]; response to bacterium [GO:0009617]	NA	NA	12975309; 14702039; 16303743; 14574404; 15489334; 19159218; 26091039
6	152784621	nonsynonymous	T	C	0.307692307692308	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	0.636363636363636	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	0.413793103448276	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	6189494	nonsynonymous	C	G	0.45	0.8	USP42	TRUE	Q9H9J4	reviewed	Ubiquitin carboxyl-terminal hydrolase 42 (EC 3.4.19.12) (Deubiquitinating enzyme 42) (Ubiquitin thioesterase 42) (Ubiquitin-specific-processing protease 42)	USP42	4 out of 5	TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:14715245}.	cell differentiation [GO:0030154]; protein deubiquitination [GO:0016579]; spermatogenesis [GO:0007283]; ubiquitin-dependent protein catabolic process [GO:0006511]	NA	NA	14715245; 12853948; 15489334; 14702039; 17081983; 18669648; 19413330; 19690332; 20068231; 21406692; 23186163; 24275569
7	64168429	nonsynonymous	G	A	0.411764705882353	0	ZNF107	TRUE	Q9UII5	reviewed	Zinc finger protein 107 (Zinc finger protein 588) (Zinc finger protein ZFD25)	ZNF107 ZFD25 ZNF588	3 out of 5	TISSUE SPECIFICITY: Expressed in brain, heart, skeletal muscle, kidney and pancreas. Weakly expressed in aorta, liver and lung.	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	10673043; 15489334
7	75045803	frameshift	CAC	CTAC	0.5	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	0.391304347826087	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	91794308	nonsynonymous	G	A	0.625	0	CYP51A1-AS1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
7	91794308	nonsynonymous	G	A	0.625	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	100014021	nonsynonymous	C	T	0.518518518518518	0	ZCWPW1	TRUE	Q9H0M4	reviewed	Zinc finger CW-type PWWP domain protein 1	ZCWPW1	3 out of 5	NA	NA	NA	NA	11230166; 14702039; 12853948; 15489334; 
7	102105234	nonsynonymous	C	T	0.571428571428571	1	ALKBH4	TRUE	Q9NXW9	reviewed	Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 (EC 1.14.11.-) (Alkylated DNA repair protein alkB homolog 4)	ALKBH4 ABH4	5 out of 5	TISSUE SPECIFICITY: Widely expressed, with highest expression in pancreas, ovary and spleen. {ECO:0000269|PubMed:17979886}.	actomyosin structure organization [GO:0031032]; cleavage furrow ingression [GO:0036090]; protein demethylation [GO:0006482]; regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 12853948; 15489334; 17979886; 21269460; 21166655; 22223895; 23145062; 22814378; 23186163; 23673617
7	127222318	nonsynonymous	T	C	0.555555555555556	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	131853148	nonsynonymous	C	T	0.466666666666667	1	PLXNA4	TRUE	Q9HCM2	reviewed	Plexin-A4	PLXNA4 KIAA1550 PLXNA4A PLXNA4B UNQ2820/PRO34003	5 out of 5	NA	anterior commissure morphogenesis [GO:0021960]; branchiomotor neuron axon guidance [GO:0021785]; chemorepulsion of branchiomotor axon [GO:0021793]; facial nerve structural organization [GO:0021612]; glossopharyngeal nerve morphogenesis [GO:0021615]; postganglionic parasympathetic fiber development [GO:0021784]; regulation of axon extension involved in axon guidance [GO:0048841]; regulation of cell migration [GO:0030334]; regulation of negative chemotaxis [GO:0050923]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; sympathetic nervous system development [GO:0048485]; trigeminal nerve structural organization [GO:0021637]; vagus nerve morphogenesis [GO:0021644]	NA	NA	14702039; 12853948; 12690205; 15489334; 12975309; 17974005; 10997877; 12168954; 19608861
7	140267004	nonsynonymous	C	T	0.526315789473684	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	142119928	nonsynonymous	G	A	0.28125	0	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
7	142458737	nonsynonymous	CCT	GCC	0.327272727272727	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	0.416666666666667	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	0.529411764705882	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	0.32	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	7195607	nonsynonymous	T	A	0.541666666666667	1	FAM66B	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
8	7195607	nonsynonymous	T	A	0.541666666666667	1	USP17L4	TRUE	A6NCW7	reviewed	Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4	USP17L4	2 out of 5	NA	protein deubiquitination [GO:0016579]	NA	NA	16421571; 15780755; 17109758
8	11703241	nonsynonymous	C	G	0.545454545454545	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	27291039	nonsynonymous	C	G	0.590909090909091	0	PTK2B	TRUE	Q14289	reviewed	Protein-tyrosine kinase 2-beta (EC 2.7.10.2) (Calcium-dependent tyrosine kinase) (CADTK) (Calcium-regulated non-receptor proline-rich tyrosine kinase) (Cell adhesion kinase beta) (CAK-beta) (CAKB) (Focal adhesion kinase 2) (FADK 2) (Proline-rich tyrosine kinase 2) (Related adhesion focal tyrosine kinase) (RAFTK)	PTK2B FAK2 PYK2 RAFTK	5 out of 5	TISSUE SPECIFICITY: Most abundant in the brain, with highest levels in amygdala and hippocampus. Low levels in kidney (at protein level). Also expressed in spleen and lymphocytes. {ECO:0000269|PubMed:7544443, ECO:0000269|PubMed:9545257}.	activation of GTPase activity [GO:0090630]; activation of Janus kinase activity [GO:0042976]; adaptive immune response [GO:0002250]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; blood vessel endothelial cell migration [GO:0043534]; bone resorption [GO:0045453]; cell surface receptor signaling pathway [GO:0007166]; cellular defense response [GO:0006968]; cellular response to fluid shear stress [GO:0071498]; cellular response to retinoic acid [GO:0071300]; chemokine-mediated signaling pathway [GO:0070098]; epidermal growth factor receptor signaling pathway [GO:0007173]; focal adhesion assembly [GO:0048041]; glial cell proliferation [GO:0014009]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; ionotropic glutamate receptor signaling pathway [GO:0035235]; long term synaptic depression [GO:0060292]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; marginal zone B cell differentiation [GO:0002315]; negative regulation of apoptotic process [GO:0043066]; negative regulation of bone mineralization [GO:0030502]; negative regulation of cell proliferation [GO:0008285]; negative regulation of muscle cell apoptotic process [GO:0010656]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of potassium ion transport [GO:0043267]; neuron projection development [GO:0031175]; oocyte maturation [GO:0001556]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of angiogenesis [GO:0045766]; positive regulation of B cell chemotaxis [GO:2000538]; positive regulation of cell growth [GO:0030307]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of neuron projection development [GO:0010976]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process [GO:2000060]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of translation [GO:0045727]; protein autophosphorylation [GO:0046777]; protein complex assembly [GO:0006461]; protein phosphorylation [GO:0006468]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of calcium-mediated signaling [GO:0050848]; regulation of cell adhesion [GO:0030155]; regulation of cell shape [GO:0008360]; regulation of cGMP biosynthetic process [GO:0030826]; regulation of cGMP-mediated signaling [GO:0010752]; regulation of establishment of cell polarity [GO:2000114]; regulation of inositol trisphosphate biosynthetic process [GO:0032960]; regulation of macrophage chemotaxis [GO:0010758]; regulation of N-methyl-D-aspartate selective glutamate receptor activity [GO:2000310]; regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process [GO:2000058]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; response to calcium ion [GO:0051592]; response to cAMP [GO:0051591]; response to cocaine [GO:0042220]; response to drug [GO:0042493]; response to ethanol [GO:0045471]; response to glucose [GO:0009749]; response to hormone [GO:0009725]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; response to immobilization stress [GO:0035902]; response to lithium ion [GO:0010226]; response to mechanical stimulus [GO:0009612]; response to osmotic stress [GO:0006970]; response to stress [GO:0006950]; signal complex assembly [GO:0007172]; signal transduction [GO:0007165]; sprouting angiogenesis [GO:0002040]; stress fiber assembly [GO:0043149]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]	DISEASE: Note=Aberrant PTK2B/PYK2 expression may play a role in cancer cell proliferation, migration and invasion, in tumor formation and metastasis. Elevated PTK2B/PYK2 expression is seen in gliomas, hepatocellular carcinoma, lung cancer and breast cancer.	NA	7544443; 8838818; 7673154; 7499242; 9545257; 16421571; 15489334; 8849729; 8670418; 9422762; 10022920; 10769033; 11493697; 12771146; 12893833; 14585963; 12522270; 15050747; 15166227; 17329398; 17634955; 18339875; 18765415; 18088087; 18691976; 18086875; 18587400; 19207108; 19648005; 19086031; 19369195; 20521079; 19880522; 20028775; 20381867; 21269460; 21357692; 21533080; 15888917; 20001213; 20332118; 21196189; 23186163; 18951788; 19358827; 19428251; 19244237; 17344846
8	37555338	nonsynonymous	C	T	0.470588235294118	1	ZNF703	TRUE	Q9H7S9	reviewed	Zinc finger protein 703 (Zinc finger elbow-related proline domain protein 1)	ZNF703 ZEPPO1 ZPO1	5 out of 5	TISSUE SPECIFICITY: Expressed in mammary epithelium. {ECO:0000269|PubMed:21317240}.	adherens junction assembly [GO:0034333]; cellular response to estradiol stimulus [GO:0071392]; mammary gland epithelial cell differentiation [GO:0060644]; negative regulation of homotypic cell-cell adhesion [GO:0034111]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of mammary gland epithelial cell proliferation [GO:0033601]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of cell cycle [GO:0051726]; regulation of transcription, DNA-templated [GO:0006355]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; transcription, DNA-templated [GO:0006351]	DISEASE: Note=Luminal B breast cancers are the clinically more aggressive estrogen receptor-positive tumors. Amplification of a distal 8p12 locus occurs in around one third of the cases and ZNF703 is the single gene within the minimal amplicon. Amplification of the gene correlates with its protein expression in tumor cells. ZNF703 is a classical breast cancer oncogene since it is able to transform non-malignant cells and increase cellular proliferation.	NA	14702039; 16421571; 15489334; 19413330; 21328542; 21337521; 21317240; 23186163
8	110477066	nonsense	C	T	0.321428571428571	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	0.611111111111111	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	124195352	nonsense	G	T	0.428571428571429	0	FAM83A	TRUE	Q86UY5	reviewed	Protein FAM83A (Tumor antigen BJ-TSA-9) (Tumor-specific gene expressed in prostate protein)	FAM83A TSGP	5 out of 5	NA	cell proliferation [GO:0008283]; epidermal growth factor receptor signaling pathway [GO:0007173]	NA	NA	15489334; 14702039; 18669648; 22886303; 23186163; 24736947; 
8	139606427	nonsynonymous	A	T	1	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	0.545454545454545	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	0.444444444444444	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	143961145	nonsynonymous	C	T	0.321428571428571	0	CYP11B1	TRUE	P15538	reviewed	Cytochrome P450 11B1, mitochondrial (CYPXIB1) (Cytochrome P-450c11) (Cytochrome P450C11) (Steroid 11-beta-hydroxylase) (EC 1.14.15.4)	CYP11B1 S11BH	5 out of 5	NA	aldosterone biosynthetic process [GO:0032342]; C21-steroid hormone biosynthetic process [GO:0006700]; cellular response to hormone stimulus [GO:0032870]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to potassium ion [GO:0035865]; cholesterol metabolic process [GO:0008203]; cortisol biosynthetic process [GO:0034651]; glucocorticoid biosynthetic process [GO:0006704]; glucose homeostasis [GO:0042593]; immune response [GO:0006955]; regulation of blood pressure [GO:0008217]; secondary metabolite biosynthetic process [GO:0044550]; sterol metabolic process [GO:0016125]	DISEASE: Adrenal hyperplasia 4 (AH4) [MIM:202010]: 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). {ECO:0000269|PubMed:16046588, ECO:0000269|PubMed:20089618, ECO:0000269|PubMed:2022736, ECO:0000269|PubMed:20331679, ECO:0000269|PubMed:20947076, ECO:0000269|PubMed:23940125, ECO:0000269|PubMed:24022297, ECO:0000269|PubMed:24536089, ECO:0000269|PubMed:24987415, ECO:0000269|PubMed:26053152, ECO:0000269|PubMed:26476331, ECO:0000269|PubMed:9302260}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.	90795;403;	2592361; 2401360; 16421571; 15489334; 7903314; 3499608; 1741400; 2022736; 9302260; 10599751; 10391209; 10391210; 16046588; 20331679; 20089618; 20947076; 23940125; 24536089; 24022297; 24987415; 26053152; 26476331
8	144403487	nonsynonymous	G	A	0.344827586206897	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	144620210	nonsynonymous	T	C	0.666666666666667	1	ZC3H3	TRUE	Q8IXZ2	reviewed	Zinc finger CCCH domain-containing protein 3 (Smad-interacting CPSF-like factor)	ZC3H3 KIAA0150 SMICL ZC3HDC3	5 out of 5	NA	mRNA polyadenylation [GO:0006378]; poly(A)+ mRNA export from nucleus [GO:0016973]; positive regulation of activin receptor signaling pathway [GO:0032927]; regulation of mRNA export from nucleus [GO:0010793]	NA	NA	16421571; 15489334; 8590280; 17081983; 18669648; 19364924; 21406692; 23186163
8	144992269	nonsynonymous	G	A	0.555555555555556	1	PLEC	TRUE	Q15149	reviewed	Plectin (PCN) (PLTN) (Hemidesmosomal protein 1) (HD1) (Plectin-1)	PLEC PLEC1	5 out of 5	TISSUE SPECIFICITY: Widely expressed with highest levels in muscle, heart, placenta and spinal cord.	hemidesmosome assembly [GO:0031581]	DISEASE: Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:612138]: Autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS. {ECO:0000269|PubMed:14675180, ECO:0000269|PubMed:20665883}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex, with muscular dystrophy (MD-EBS) [MIM:226670]: A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy. {ECO:0000269|PubMed:11159198, ECO:0000269|PubMed:21263134, ECO:0000269|PubMed:8894687}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex, Ogna type (O-EBS) [MIM:131950]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. {ECO:0000269|PubMed:11851880}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Limb-girdle muscular dystrophy 2Q (LGMD2Q) [MIM:613723]: A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269|PubMed:21109228}. Note=The disease is caused by mutations affecting the gene represented in this entry. A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.; DISEASE: Epidermolysis bullosa simplex with nail dystrophy (EBSND) [MIM:616487]: A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy. {ECO:0000269|PubMed:25712130}. Note=The disease is caused by mutations affecting the gene represented in this entry.	254361;257;158684;79401;	8633055; 8698233; 14672974; 16421571; 12482924; 17081983; 17525332; 18827015; 18220336; 19367720; 18691976; 18669648; 19413330; 19369195; 19690332; 19608861; 21109228; 19932097; 20665883; 20068231; 21269460; 21223964; 21263134; 21406692; 23186163; 24275569; 25944712; 17397861; 12791251; 8894687; 11159198; 11851880; 14675180; 25712130; 26477546
8	144999731	nonsynonymous	C	T	0.555555555555556	0	PLEC	TRUE	Q15149	reviewed	Plectin (PCN) (PLTN) (Hemidesmosomal protein 1) (HD1) (Plectin-1)	PLEC PLEC1	5 out of 5	TISSUE SPECIFICITY: Widely expressed with highest levels in muscle, heart, placenta and spinal cord.	hemidesmosome assembly [GO:0031581]	DISEASE: Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) [MIM:612138]: Autosomal recessive genodermatosis characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. This disorder is allelic to MD-EBS. {ECO:0000269|PubMed:14675180, ECO:0000269|PubMed:20665883}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex, with muscular dystrophy (MD-EBS) [MIM:226670]: A form of epidermolysis bullosa characterized by the association of blister formation at the level of the hemidesmosome with late-onset muscular dystrophy. {ECO:0000269|PubMed:11159198, ECO:0000269|PubMed:21263134, ECO:0000269|PubMed:8894687}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex, Ogna type (O-EBS) [MIM:131950]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. {ECO:0000269|PubMed:11851880}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Limb-girdle muscular dystrophy 2Q (LGMD2Q) [MIM:613723]: A form of limb-girdle muscular dystrophy characterized by early childhood onset of proximal muscle weakness. Limb-girdle muscular dystrophies are characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269|PubMed:21109228}. Note=The disease is caused by mutations affecting the gene represented in this entry. A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients. The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin.; DISEASE: Epidermolysis bullosa simplex with nail dystrophy (EBSND) [MIM:616487]: A form of epidermolysis bullosa, a dermatologic disorder characterized by skin blistering. EBSND patients also manifest nail dystrophy. {ECO:0000269|PubMed:25712130}. Note=The disease is caused by mutations affecting the gene represented in this entry.	254361;257;158684;79401;	8633055; 8698233; 14672974; 16421571; 12482924; 17081983; 17525332; 18827015; 18220336; 19367720; 18691976; 18669648; 19413330; 19369195; 19690332; 19608861; 21109228; 19932097; 20665883; 20068231; 21269460; 21223964; 21263134; 21406692; 23186163; 24275569; 25944712; 17397861; 12791251; 8894687; 11159198; 11851880; 14675180; 25712130; 26477546
9	34724905	nonsynonymous	G	A	0.363636363636364	0	FAM205A	TRUE	Q6ZU69	reviewed	Protein FAM205A	FAM205A C9orf144B	2 out of 5	NA	NA	NA	NA	14702039; 15164053
9	114090401	nonsynonymous	G	A	0.375	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	117354865	nonsynonymous	A	C	0.666666666666667	1	ATP6V1G1	TRUE	O75348	reviewed	V-type proton ATPase subunit G 1 (V-ATPase subunit G 1) (V-ATPase 13 kDa subunit 1) (Vacuolar proton pump subunit G 1) (Vacuolar proton pump subunit M16)	ATP6V1G1 ATP6G ATP6G1 ATP6J	5 out of 5	TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12384298}.	insulin receptor signaling pathway [GO:0008286]; ion transmembrane transport [GO:0034220]; phagosome acidification [GO:0090383]; regulation of macroautophagy [GO:0016241]; transferrin transport [GO:0033572]	NA	NA	9653160; 15164053; 15489334; 12384298; 21269460; 25944712
9	123908511	nonsynonymous	A	G	0.5	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	124083642	nonsynonymous	C	T	0.545454545454545	0.2	GSN	TRUE	P06396	reviewed	Gelsolin (AGEL) (Actin-depolymerizing factor) (ADF) (Brevin)	GSN	5 out of 5	TISSUE SPECIFICITY: Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.	actin filament capping [GO:0051693]; actin filament polymerization [GO:0030041]; actin filament reorganization [GO:0090527]; actin filament severing [GO:0051014]; actin nucleation [GO:0045010]; aging [GO:0007568]; amyloid fibril formation [GO:1990000]; barbed-end actin filament capping [GO:0051016]; cellular protein metabolic process [GO:0044267]; cellular response to cadmium ion [GO:0071276]; cilium morphogenesis [GO:0060271]; hepatocyte apoptotic process [GO:0097284]; negative regulation of viral entry into host cell [GO:0046597]; oligodendrocyte development [GO:0014003]; phagocytosis, engulfment [GO:0006911]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of actin nucleation [GO:0051127]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:2001269]; positive regulation of gene expression [GO:0010628]; positive regulation of keratinocyte apoptotic process [GO:1902174]; positive regulation of protein processing in phagocytic vesicle [GO:1903923]; protein destabilization [GO:0031648]; regulation of establishment of T cell polarity [GO:1903903]; regulation of plasma membrane raft polarization [GO:1903906]; regulation of podosome assembly [GO:0071801]; regulation of receptor clustering [GO:1903909]; regulation of wound healing, spreading of epidermal cells [GO:1903689]; renal protein absorption [GO:0097017]; response to ethanol [GO:0045471]; response to folic acid [GO:0051593]; sequestering of actin monomers [GO:0042989]; striated muscle atrophy [GO:0014891]; tissue regeneration [GO:0042246]	DISEASE: Amyloidosis 5 (AMYL5) [MIM:105120]: A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. {ECO:0000269|PubMed:1338910, ECO:0000269|PubMed:2176481}. Note=The disease is caused by mutations affecting the gene represented in this entry.	85448;	3020431; 14702039; 15164053; 15489334; 12665801; 6092370; 2157434; 2153578; 8703941; 9003812; 10210201; 20393563; 21269460; 23186163; 24275569; 8395021; 8599675; 16466744; 23009842; 2176481; 1338910; 16959974
9	127969929	nonsynonymous	G	C	0.363636363636364	1	RABEPK	TRUE	Q7Z6M1	reviewed	Rab9 effector protein with kelch motifs (40 kDa Rab9 effector protein) (p40)	RABEPK RAB9P40	5 out of 5	NA	receptor-mediated endocytosis [GO:0006898]; vesicle docking involved in exocytosis [GO:0006904]	NA	NA	9230071; 14702039; 15164053; 15489334; 17974005; 14530284; 16769818; 21269460; 22814378; 23186163
9	129937020	nonsynonymous	G	A	0.521739130434783	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	139333403	nonsynonymous	C	A	0.444444444444444	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	140005171	nonsynonymous	CGATGATG	CGATG	0.636363636363636	0	DPP7	TRUE	Q9UHL4	reviewed	Dipeptidyl peptidase 2 (EC 3.4.14.2) (Dipeptidyl aminopeptidase II) (Dipeptidyl peptidase 7) (Dipeptidyl peptidase II) (DPP II) (Quiescent cell proline dipeptidase)	DPP7 DPP2 QPP	5 out of 5	TISSUE SPECIFICITY: Detected in seminal plasma (at protein level). {ECO:0000269|PubMed:15487984}.	NA	NA	NA	10567372; 14702039; 15164053; 15489334; 11067927; 19159218; 21269460; 24275569; 25944712; 15487984
9	140249159	nonsynonymous	A	G	0.566666666666667	0	EXD3	TRUE	Q8N9H8	Q9NX53	reviewed	reviewed	Exonuclease mut-7 homolog, isoform 5	EXD3 HBE269	EXD3	EXD3	EXD3	3 out of 5
10	11504687	nonsynonymous	G	A	0.384615384615385	0	USP6NL	TRUE	Q92738	reviewed	USP6 N-terminal-like protein (Related to the N-terminus of tre) (RN-tre)	USP6NL KIAA0019	5 out of 5	TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8700515}.	activation of GTPase activity [GO:0090630]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]; plasma membrane to endosome transport [GO:0048227]; regulation of Golgi organization [GO:1903358]; regulation of vesicle fusion [GO:0031338]; retrograde transport, plasma membrane to Golgi [GO:0035526]; virion assembly [GO:0019068]	NA	NA	8700515; 19077034; 7584026; 14702039; 15164054; 15489334; 8889548; 11099046; 15144186; 17081983; 17562788; 17684057; 18669648; 19413330; 19690332; 20068231; 21406692; 22814378; 23186163; 24275569
10	26377331	nonsynonymous	C	T	0.555555555555556	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	28971169	nonsynonymous	G	A	0.578947368421053	1	BAMBI	TRUE	Q13145	reviewed	BMP and activin membrane-bound inhibitor homolog (Non-metastatic gene A protein) (Putative transmembrane protein NMA)	BAMBI NMA	5 out of 5	TISSUE SPECIFICITY: High expression in kidney medulla, placenta and spleen; low in kidney cortex, liver, prostate and gut. Not expressed in normal skin, expression is high in melanocytes and in 3 out of 11 melanoma metastases tested.	cell migration [GO:0016477]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of catenin import into nucleus [GO:0035413]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of protein binding [GO:0032092]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cell shape [GO:0008360]; transforming growth factor beta receptor signaling pathway [GO:0007179]	NA	NA	8621228; 15164054; 15489334; 15340161
10	49447720	nonsynonymous	G	A	0.548387096774194	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	73501709	nonsynonymous	C	T	0.363636363636364	0	CDH23	FALSE	Q9H251	reviewed	Cadherin-23 (Otocadherin)	CDH23 KIAA1774 KIAA1812 UNQ1894/PRO4340	5 out of 5	TISSUE SPECIFICITY: Particularly strong expression in the retina. Found also in the cochlea.	calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; calcium ion transport [GO:0006816]; equilibrioception [GO:0050957]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; inner ear receptor stereocilium organization [GO:0060122]; locomotory behavior [GO:0007626]; photoreceptor cell maintenance [GO:0045494]; regulation of cytosolic calcium ion concentration [GO:0051480]; 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 1D (USH1D) [MIM:601067]: 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269|PubMed:11138009, ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:15660226, ECO:0000269|PubMed:16679490, ECO:0000269|PubMed:18429043}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. {ECO:0000269|PubMed:15537665}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386]: 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:11090341, ECO:0000269|PubMed:12075507, ECO:0000269|PubMed:12522556, ECO:0000269|PubMed:15829536, ECO:0000269|PubMed:16679490, ECO:0000269|PubMed:17850630, ECO:0000269|PubMed:22899989, ECO:0000269|PubMed:24767429}. Note=The disease is caused by mutations affecting the gene represented in this entry.	90636;231169;	11138009; 12975309; 15882574; 15164054; 15489334; 11347906; 11090341; 11597768; 21436032; 19297620; 12075507; 12522556; 15660226; 15537665; 15829536; 16679490; 17850630; 18429043; 22899989; 24767429; 24916380
10	76789417	nonsynonymous	G	A	0.458333333333333	1	KAT6B	TRUE	Q8WYB5	reviewed	Histone acetyltransferase KAT6B (EC 2.3.1.48) (Histone acetyltransferase MOZ2) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 4) (MYST-4) (Monocytic leukemia zinc finger protein-related factor)	KAT6B KIAA0383 MORF MOZ2 MYST4	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed, with high levels in heart, pancreas, testis and ovary. {ECO:0000269|PubMed:10497217}.	histone acetylation [GO:0016573]; histone H3 acetylation [GO:0043966]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome assembly [GO:0006334]; 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]; transcription, DNA-templated [GO:0006351]	DISEASE: Note=A chromosomal aberration involving KAT6B may be a cause acute myeloid leukemias. Translocation t(10;16)(q22;p13) with CREBBP. {ECO:0000269|PubMed:11157802}.; DISEASE: Ohdo syndrome, SBBYS variant (SBBYSS) [MIM:603736]: A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech. {ECO:0000269|PubMed:22077973}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Genitopatellar syndrome (GTPTS) [MIM:606170]: A rare disorder consisting of microcephaly, severe psychomotor retardation, and characteristic coarse facial features, including broad nose and small or retracted chin, associated with congenital flexion contractures of the lower extremities, abnormal or missing patellae, and urogenital anomalies. {ECO:0000269|PubMed:22265014}. Note=The disease is caused by mutations affecting the gene represented in this entry.	3047;85201;648;	10497217; 9205841; 12168954; 15489334; 11157802; 11965546; 16387653; 18794358; 19608861; 22077973; 22265014; 23186163; 25772364; 25755297; 16959974
10	106075500	nonsynonymous	G	A	0.578947368421053	1	ITPRIP	TRUE	Q8IWB1	reviewed	Inositol 1,4,5-trisphosphate receptor-interacting protein (Protein DANGER)	ITPRIP DANGER KIAA1754	4 out of 5	TISSUE SPECIFICITY: Detected in brain where it is concentrated in cerebellar Purkinje cells (at protein level). {ECO:0000269|PubMed:16990268}.	NA	NA	NA	11214970; 14702039; 15164054; 15489334; 16990268; 18669648
10	116050019	nonsynonymous	C	T	0.48	1	VWA2	TRUE	Q5GFL6	reviewed	von Willebrand factor A domain-containing protein 2 (A domain-containing protein similar to matrilin and collagen) (AMACO) (Colon cancer secreted protein 2) (CCSP-2)	VWA2 AMACO	5 out of 5	TISSUE SPECIFICITY: Expression is generally absent in normal colon and other normal body tissues, but it is induced an average of 78-fold in Stage II, III, and IV colon cancers, as well as in colon adenomas and colon cancer cell lines. {ECO:0000269|PubMed:15580307}.	calcium-independent cell-matrix adhesion [GO:0007161]; protein homooligomerization [GO:0051260]; regulation of insulin receptor signaling pathway [GO:0046626]	NA	NA	14506275; 15580307; 14702039; 15164054; 15489334; 16959974
10	123845115	nonsynonymous	G	A	0.56	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
10	135272596	nonsynonymous	C	T	0.394736842105263	0	SCART1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	614243	nonsynonymous	C	T	0.32	0	IRF7	TRUE	Q92985	reviewed	Interferon regulatory factor 7 (IRF-7)	IRF7	5 out of 5	TISSUE SPECIFICITY: Expressed predominantly in spleen, thymus and peripheral blood leukocytes.	cellular response to DNA damage stimulus [GO:0006974]; establishment of viral latency [GO:0019043]; immunoglobulin mediated immune response [GO:0016064]; innate immune response [GO:0045087]; interferon-alpha production [GO:0032607]; interferon-beta production [GO:0032608]; interferon-gamma-mediated signaling pathway [GO:0060333]; MDA-5 signaling pathway [GO:0039530]; negative regulation of macrophage apoptotic process [GO:2000110]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; positive regulation of type I interferon production [GO:0032481]; regulation of adaptive immune response [GO:0002819]; regulation of immune response [GO:0050776]; regulation of monocyte differentiation [GO:0045655]; regulation of MyD88-dependent toll-like receptor signaling pathway [GO:0034124]; regulation of MyD88-independent toll-like receptor signaling pathway [GO:0034127]; regulation of type I interferon production [GO:0032479]; response to virus [GO:0009615]; transcription from RNA polymerase II promoter [GO:0006366]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]; type I interferon biosynthetic process [GO:0045351]; type I interferon signaling pathway [GO:0060337]	DISEASE: Immunodeficiency 39 (IMD39) [MIM:616345]: A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A. {ECO:0000269|PubMed:25814066}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	9315633; 9786932; 15489334; 11073981; 11124948; 11314014; 12374802; 11846980; 11943871; 14517278; 14739303; 14759258; 15367631; 15492225; 15361868; 15767370; 16846591; 16979567; 17404045; 17301153; 19017798; 18987133; 20049431; 21490621; 21940674; 25814066
11	6238663	nonsynonymous	G	A	0.315789473684211	1	FAM160A2	TRUE	Q8N612	reviewed	FTS and Hook-interacting protein (FHIP) (Protein FAM160A2)	FAM160A2 C11orf56 KIAA1759	5 out of 5	NA	early endosome to late endosome transport [GO:0045022]; endosome organization [GO:0007032]; endosome to lysosome transport [GO:0008333]; lysosome organization [GO:0007040]; protein transport [GO:0015031]	NA	NA	11214970; 12168954; 14702039; 11230166; 15489334; 18799622; 18669648; 23186163; 24275569
11	6592951	nonsynonymous	T	C	0.421052631578947	0	DNHD1	TRUE	Q96M86	reviewed	Dynein heavy chain domain-containing protein 1 (Dynein heavy chain domain 1-like protein) (Protein CCDC35)	DNHD1 C11orf47 CCDC35 DHCD1 DNHD1L UNQ5781/PRO12970	5 out of 5	NA	microtubule-based movement [GO:0007018]	NA	NA	14702039; 15489334; 16554811; 12693554; 17974005; 12975309
11	13032055	nonsynonymous	C	A	0.4375	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	40137800	nonsynonymous	C	T	0.52	1	LRRC4C	TRUE	Q9HCJ2	reviewed	Leucine-rich repeat-containing protein 4C (Netrin-G1 ligand) (NGL-1)	LRRC4C KIAA1580 NGL1 UNQ292/PRO331	5 out of 5	TISSUE SPECIFICITY: Highly expressed in the cerebral cortex, including frontal, parietal and occipital lobes. Putamen, amygdala, hippocampus and medulla oblongata show moderate expression. Caudate nucleus and thalamus express small amounts, whereas other brain regions show very weak or no expression. {ECO:0000269|PubMed:14595443}.	cytokine-mediated signaling pathway [GO:0019221]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of protein kinase activity [GO:0006469]; regulation of axonogenesis [GO:0050770]	NA	NA	10997877; 12975309; 14702039; 15489334; 14595443; 21946559
11	56143898	nonsynonymous	GCCCTGGACA	TCTCTTGATG	0.526315789473684	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	0.526315789473684	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	0.393939393939394	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	64428239	nonsynonymous	C	T	0.521739130434783	0	NRXN2	TRUE	P58401	Q9P2S2	reviewed	reviewed	Neurexin-2 (Neurexin II-alpha) (Neurexin-2-alpha)	NRXN2	NRXN2 KIAA0921	NRXN2	NRXN2	5 out of 5
11	65386523	nonsynonymous	G	A	0.521739130434783	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	65649676	nonsynonymous	G	A	0.5	0	CTSW	TRUE	P56202	reviewed	Cathepsin W (EC 3.4.22.-) (Lymphopain)	CTSW	5 out of 5	TISSUE SPECIFICITY: Expressed in natural killer and cytotoxic T cells.	immune response [GO:0006955]; platelet degranulation [GO:0002576]; proteolysis involved in cellular protein catabolic process [GO:0051603]	NA	NA	9823953; 9108299; 9675123; 16554811; 15489334; 15340161
11	66105997	nonsynonymous	A	C	0.590909090909091	0	BRMS1	FALSE	Q9HCU9	reviewed	Breast cancer metastasis-suppressor 1	BRMS1	5 out of 5	TISSUE SPECIFICITY: Expression levels are higher in term placentas than in early placentas. Low levels of expression observed in normal pregnancies and in molar pregnancies. {ECO:0000269|PubMed:12414911}.	apoptotic process [GO:0006915]; histone deacetylation [GO:0016575]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of anoikis [GO:2000210]; positive regulation of protein deacetylation [GO:0090312]; transcription, DNA-templated [GO:0006351]	NA	NA	10850410; 14702039; 15489334; 12414911; 14581478; 17000776; 20830743; 22085717; 21777593
11	67186995	nonsynonymous	G	A	0.464285714285714	0.7	CARNS1	TRUE	A5YM72	reviewed	Carnosine synthase 1 (EC 6.3.2.11) (ATP-grasp domain-containing protein 1)	CARNS1 ATPGD1 KIAA1394	5 out of 5	NA	carnosine biosynthetic process [GO:0035499]; histidine catabolic process [GO:0006548]	NA	NA	10718198; 14702039; 16554811; 15489334; 20097752
11	67186995	nonsynonymous	G	A	0.464285714285714	0.7	CARNS1	TRUE	A5YM72	reviewed	Carnosine synthase 1 (EC 6.3.2.11) (ATP-grasp domain-containing protein 1)	CARNS1 ATPGD1 KIAA1394	5 out of 5	NA	carnosine biosynthetic process [GO:0035499]; histidine catabolic process [GO:0006548]	NA	NA	10718198; 14702039; 16554811; 15489334; 20097752
11	68509835	nonsynonymous	A	G	0.472222222222222	1	TESMIN	TRUE	Q9Y4I5	reviewed	Tesmin (Metallothionein-like 5, testis-specific) (Testis-specific metallothionein-like protein)	TESMIN MTL5	4 out of 5	TISSUE SPECIFICITY: Expressed specifically in testis.	cell differentiation [GO:0030154]; cellular metal ion homeostasis [GO:0006875]; multicellular organism development [GO:0007275]; response to metal ion [GO:0010038]; spermatogenesis [GO:0007283]	NA	NA	14702039; 15489334; 10191092; 19608861
11	76402703	nonsynonymous	C	G	0.5	0	GUCY2EP	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
11	85437499	nonsynonymous	T	C	0.464285714285714	0.9	SYTL2	FALSE	Q9HCH5	reviewed	Synaptotagmin-like protein 2 (Breast cancer-associated antigen SGA-72M) (Exophilin-4)	SYTL2 KIAA1597 SGA72M SLP2 SLP2A	5 out of 5	TISSUE SPECIFICITY: Isoform 1 is expressed in hematopoietic lineages with a strong expression in CD4 and CD8 T-lymphocytes. It is also widely expressed in nonhematopoietic tissues. Isoform 5 is expressed only in nonhematopoietic tissues. Isoform 4 is expressed in pancreatic alpha cells. {ECO:0000269|PubMed:17182843, ECO:0000269|PubMed:18266782, ECO:0000269|PubMed:18812475}.	exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]; negative regulation of phosphatase activity [GO:0010923]; positive regulation of mucus secretion [GO:0070257]; protein localization to plasma membrane [GO:0072659]; vesicle docking involved in exocytosis [GO:0006904]; vesicle fusion [GO:0006906]; vesicle-mediated transport [GO:0016192]	NA	NA	18812475; 10997877; 14702039; 16554811; 15489334; 17974005; 17182843; 18266782; 18940603
11	102565820	nonsynonymous	C	A	0.375	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	118828867	nonsynonymous	C	T	0.708333333333333	1	UPK2	TRUE	O00526	reviewed	Uroplakin-2 (UP2) (Uroplakin II) (UPII)	UPK2	4 out of 5	TISSUE SPECIFICITY: Expressed in ureter. {ECO:0000269|PubMed:9846985}.	epithelial cell differentiation [GO:0030855]; membrane organization [GO:0061024]; multicellular organism development [GO:0007275]	NA	NA	9846985; 12792753; 15489334; 
11	121028581	nonsynonymous	C	G	0.777777777777778	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
12	11174534	nonsynonymous	T	C	0.285714285714286	0	PRH1-PRR4	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	11174534	nonsynonymous	T	C	0.285714285714286	0	PRH1	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	11174534	nonsynonymous	T	C	0.285714285714286	0	PRH1-TAS2R14	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
12	11174534	nonsynonymous	T	C	0.285714285714286	0	TAS2R19	TRUE	P59542	reviewed	Taste receptor type 2 member 19 (Taste receptor type 2 member 23) (Taste receptor type 2 member 48) (T2R48)	TAS2R19 TAS2R23 TAS2R48	3 out of 5	TISSUE SPECIFICITY: Expressed in subsets of taste receptor cells of the tongue and exclusively in gustducin-positive cells.	sensory perception of taste [GO:0050909]	NA	NA	12379855; 15496549; 15489334; 12139982; 11696554; 12581520
12	14610199	nonsynonymous	C	T	0.347826086956522	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	29423524	nonsynonymous	G	T	0.533333333333333	1	FAR2	TRUE	Q96K12	reviewed	Fatty acyl-CoA reductase 2 (EC 1.2.1.n2) (Male sterility domain-containing protein 1)	FAR2 MLSTD1	5 out of 5	NA	lipid metabolic process [GO:0006629]; long-chain fatty-acyl-CoA metabolic process [GO:0035336]; wax biosynthetic process [GO:0010025]	NA	NA	11230166; 14702039; 16541075; 15489334; 15220348
12	31256929	nonsynonymous	G	A	0.705882352941177	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	31604829	frameshift	TAAAGC	TAAAAGC	0.7	0	DENND5B	FALSE	Q6ZUT9	reviewed	DENN domain-containing protein 5B (Rab6IP1-like protein)	DENND5B	4 out of 5	NA	detection of mechanical stimulus [GO:0050982]	NA	NA	14702039; 16541075; 15489334; 17974005; 18669648; 19413330; 20937701; 20068231; 22814378; 23186163; 24275569
12	49427108	nonsynonymous	G	A	0.380952380952381	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	50747002	nonsynonymous	CCCT	CCCC	1	0	FAM186A	TRUE	A6NE01	reviewed	Protein FAM186A	FAM186A	2 out of 5	NA	NA	NA	NA	16541075; 17974005; 
12	51068409	nonsynonymous	G	A	0.714285714285714	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	53452130	nonsynonymous	A	G	0.5	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	0.375	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	71537951	nonsynonymous	C	T	0.5	0.3	TSPAN8	TRUE	P19075	reviewed	Tetraspanin-8 (Tspan-8) (Transmembrane 4 superfamily member 3) (Tumor-associated antigen CO-029)	TSPAN8 TM4SF3	4 out of 5	TISSUE SPECIFICITY: Gastric, colon, rectal, and pancreatic carcinomas.	cell surface receptor signaling pathway [GO:0007166]; negative regulation of blood coagulation [GO:0030195]	NA	NA	2395876; 14702039; 15489334; 19159218
12	117465867	nonsynonymous	G	A	0.416666666666667	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	0.647058823529412	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	0.392857142857143	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	0.608695652173913	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	23904298	nonsynonymous	T	G	0.37037037037037	1	SACS	TRUE	Q9NZJ4	reviewed	Sacsin (DnaJ homolog subfamily C member 29) (DNAJC29)	SACS KIAA0730	5 out of 5	TISSUE SPECIFICITY: Highly expressed in the central nervous system. Also found in skeletal muscle and at low levels in pancreas.	negative regulation of inclusion body assembly [GO:0090084]; protein folding [GO:0006457]	DISEASE: Spastic ataxia Charlevoix-Saguenay type (SACS) [MIM:270550]: A neurodegenerative disease characterized by early-onset cerebellar ataxia, spasticity, retinal hypermyelination, pyramidal signs, and both axonal and demyelinating neuropathy with loss of sensory nerve conduction and reduced motor conduction velocities. Other features include dysarthria, distal muscle wasting, nystagmus, defect in conjugate pursuit ocular movements, retinal striation (from prominent retinal nerves) obscuring the retinal blood vessels in places, and the frequent presence of mitral valve prolapse. {ECO:0000269|PubMed:10655055, ECO:0000269|PubMed:12873855, ECO:0000269|PubMed:14718708, ECO:0000269|PubMed:15156359, ECO:0000269|PubMed:15985586, ECO:0000269|PubMed:16007637, ECO:0000269|PubMed:17290461, ECO:0000269|PubMed:17716690, ECO:0000269|PubMed:18398442, ECO:0000269|PubMed:18465152, ECO:0000269|PubMed:18484239, ECO:0000269|PubMed:19529988, ECO:0000269|PubMed:20876471}. Note=The disease is caused by mutations affecting the gene represented in this entry.	98;	10655055; 15057823; 17974005; 14702039; 9872452; 18669648; 19208651; 19529988; 19690332; 19608861; 20068231; 21269460; 21406692; 23186163; 12873855; 15156359; 14718708; 16007637; 15985586; 16959974; 17290461; 18398442; 18484239; 17716690; 18465152; 20876471; 23800155
13	25670953	nonsynonymous	GCC	ACT	0.375	1	PABPC3	TRUE	Q9H361	reviewed	Polyadenylate-binding protein 3 (PABP-3) (Poly(A)-binding protein 3) (Testis-specific poly(A)-binding protein)	PABPC3 PABP3 PABPL3	3 out of 5	TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:11328870}.	mRNA metabolic process [GO:0016071]	NA	NA	11328870; 11230166; 15489334; 
13	25670978	nonsynonymous	CGGGCCCGCCT	TGGCCCTGCCG	0.433333333333333	1	PABPC3	TRUE	Q9H361	reviewed	Polyadenylate-binding protein 3 (PABP-3) (Poly(A)-binding protein 3) (Testis-specific poly(A)-binding protein)	PABPC3 PABP3 PABPL3	3 out of 5	TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:11328870}.	mRNA metabolic process [GO:0016071]	NA	NA	11328870; 11230166; 15489334; 
13	25671143	nonsynonymous	AGTGGAACGGCAGACG	GGTG	0.375	1	PABPC3	TRUE	Q9H361	reviewed	Polyadenylate-binding protein 3 (PABP-3) (Poly(A)-binding protein 3) (Testis-specific poly(A)-binding protein)	PABPC3 PABP3 PABPL3	3 out of 5	TISSUE SPECIFICITY: Testis specific. {ECO:0000269|PubMed:11328870}.	mRNA metabolic process [GO:0016071]	NA	NA	11328870; 11230166; 15489334; 
13	50080827	nonsynonymous	G	T	0.444444444444444	0.9	SETDB2-PHF11	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
13	50080827	nonsynonymous	G	T	0.444444444444444	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	0.464285714285714	1	CTAGE10P	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
13	53049113	nonsynonymous	G	A	0.4	1	CKAP2	TRUE	Q8WWK9	reviewed	Cytoskeleton-associated protein 2 (CTCL tumor antigen se20-10) (Tumor- and microtubule-associated protein)	CKAP2 LB1 TMAP	5 out of 5	TISSUE SPECIFICITY: Abundant in testis, thymus, and in tumor derived cell lines, while barely detectable in liver, prostate, and kidney. {ECO:0000269|PubMed:9771967}.	apoptotic process [GO:0006915]; mitotic cytokinesis [GO:0000281]; negative regulation of microtubule depolymerization [GO:0007026]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]	NA	NA	9771967; 11234418; 12942315; 14702039; 17974005; 15057823; 15489334; 11149944; 11230166; 17376772; 18669648; 19690332; 20068231; 21269460; 23186163
13	75900510	nonsynonymous	G	A	0.466666666666667	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	0.4375	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	0.5	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	21469136	nonsynonymous	T	A	0.576923076923077	1	SLC39A2	TRUE	Q9NP94	reviewed	Zinc transporter ZIP2 (6A1) (Eti-1) (Solute carrier family 39 member 2) (Zrt- and Irt-like protein 2) (ZIP-2) (hZIP2)	SLC39A2 ZIP2	5 out of 5	TISSUE SPECIFICITY: Expressed only in prostate and uterine epithelial cells.	zinc II ion transport [GO:0006829]	NA	NA	7751801; 10681536; 14702039; 12508121; 15489334; 
14	21542740	nonsynonymous	G	A	0.48	1	ARHGEF40	TRUE	Q8TER5	reviewed	Rho guanine nucleotide exchange factor 40 (Protein SOLO)	ARHGEF40 SOLO	4 out of 5	TISSUE SPECIFICITY: Expressed at higher level in the central nervous system and skeletal muscle and greater abundance in fetal than adult brain (at protein level). {ECO:0000269|PubMed:16143467}.	regulation of Rho protein signal transduction [GO:0035023]	NA	NA	14702039; 12508121; 15489334; 17974005; 16143467; 16964243; 18669648; 19413330; 19369195; 21406692; 23186163; 24275569
14	22675766	nonsynonymous	G	C	0.62962962962963	1	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	24435564	nonsynonymous	C	T	0.28	0	DHRS4	TRUE	Q9BTZ2	reviewed	Dehydrogenase/reductase SDR family member 4 (EC 1.1.1.184) (NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenase) (CR) (PHCR) (NADPH-dependent retinol dehydrogenase/reductase) (NRDR) (humNRDR) (Peroxisomal short-chain alcohol dehydrogenase) (PSCD) (SCAD-SRL) (Short chain dehydrogenase/reductase family 25C member 2) (Short-chain dehydrogenase/reductase family member 4)	DHRS4 SDR25C2 UNQ851/PRO1800	5 out of 5	TISSUE SPECIFICITY: Isoform 1 is predominantly expressed in normal cervix (at protein level). Isoform 4 is expressed in some neoplastic cervical tissues, but not in normal cervix (at protein level). Isoform 5 and isoform 6 are expressed in a few neoplastic cervical tissues.	alcohol metabolic process [GO:0006066]; cellular ketone metabolic process [GO:0042180]; oxidation-reduction process [GO:0055114]; protein tetramerization [GO:0051262]; steroid metabolic process [GO:0008202]	NA	NA	10333503; 15473316; 17230527; 14702039; 12975309; 12508121; 15489334; 18669648; 21269460; 23128527; 22227495; 24275569; 25944712
14	31598427	nonsynonymous	T	C	0.631578947368421	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	0.473684210526316	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	0.473684210526316	0	SLC25A21-AS1	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
14	48143947	nonsynonymous	C	G	0.5	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	65205465	nonsynonymous	G	C	0.32	1	PLEKHG3	TRUE	A1L390	reviewed	Pleckstrin homology domain-containing family G member 3 (PH domain-containing family G member 3)	PLEKHG3 KIAA0599	3 out of 5	NA	regulation of Rho protein signal transduction [GO:0035023]	NA	NA	12508121; 15489334; 9455484; 18669648; 19413330; 20068231; 21406692; 23186163; 24275569
14	65210269	nonsynonymous	C	T	0.652173913043478	0	PLEKHG3	TRUE	A1L390	reviewed	Pleckstrin homology domain-containing family G member 3 (PH domain-containing family G member 3)	PLEKHG3 KIAA0599	3 out of 5	NA	regulation of Rho protein signal transduction [GO:0035023]	NA	NA	12508121; 15489334; 9455484; 18669648; 19413330; 20068231; 21406692; 23186163; 24275569
14	69521674	nonsynonymous	G	A	0.571428571428571	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	96552859	nonsynonymous	G	C	0.333333333333333	1	C14orf132	TRUE	Q9NPU4	reviewed	Uncharacterized protein C14orf132	C14orf132 C14orf88	2 out of 5	NA	NA	NA	NA	12508121; 14702039; 17974005; 
15	24921150	nonsynonymous	C	T	0.333333333333333	0	NPAP1	TRUE	Q9NZP6	reviewed	Nuclear pore-associated protein 1	NPAP1 C15orf2	5 out of 5	TISSUE SPECIFICITY: Testis-specific in adults. In fetal brain expressed only from the paternal allele. {ECO:0000269|PubMed:10783265, ECO:0000269|PubMed:17337158, ECO:0000269|PubMed:20020165}.	cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]	NA	NA	10783265; 16572171; 16959974; 17337158; 20020165; 22694955
15	51757826	nonsynonymous	T	C	0.52	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	60297284	nonsynonymous	A	C	0.235294117647059	1	FOXB1	TRUE	Q99853	reviewed	Forkhead box protein B1 (Transcription factor FKH-5)	FOXB1 FKH5	4 out of 5	NA	axon target recognition [GO:0007412]; cell migration in diencephalon [GO:0061381]; epithelial cell differentiation involved in mammary gland alveolus development [GO:0061030]; floor plate development [GO:0033504]; hypothalamus cell migration [GO:0021855]; inferior colliculus development [GO:0061379]; lactation [GO:0007595]; mammary gland lobule development [GO:0061377]; mammillary body development [GO:0021767]; mammillothalamic axonal tract development [GO:0061374]; midbrain development [GO:0030901]; negative regulation of neuron apoptotic process [GO:0043524]; somitogenesis [GO:0001756]; spinal cord development [GO:0021510]; telencephalon cell migration [GO:0022029]; thalamus development [GO:0021794]; transcription, DNA-templated [GO:0006351]; urogenital system development [GO:0001655]; visual learning [GO:0008542]	NA	NA	14702039; 15489334; 
15	71548995	nonsynonymous	C	T	0.454545454545455	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	72030454	nonsynonymous	C	T	0.5	0	THSD4	FALSE	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	78461324	nonsynonymous	C	T	0.6	1	IDH3A	TRUE	P50213	reviewed	Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial (EC 1.1.1.41) (Isocitric dehydrogenase subunit alpha) (NAD(+)-specific ICDH subunit alpha)	IDH3A	5 out of 5	NA	carbohydrate metabolic process [GO:0005975]; tricarboxylic acid cycle [GO:0006099]	NA	NA	7755589; 17974005; 15489334; 19608861; 21269460; 25944712
15	78572759	nonsynonymous	A	G	0.6	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	0.636363636363636	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	83395473	nonsynonymous	C	A	0.518518518518518	1	ACTG1P17	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
16	570233	nonsynonymous	G	A	0.478260869565217	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	0.777777777777778	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	0.615384615384615	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	2813636	nonsynonymous	G	C	0.777777777777778	0	SRRM2	TRUE	Q9UQ35	reviewed	Serine/arginine repetitive matrix protein 2 (300 kDa nuclear matrix antigen) (Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa) (SR-related nuclear matrix protein of 300 kDa) (Ser/Arg-related nuclear matrix protein of 300 kDa) (Splicing coactivator subunit SRm300) (Tax-responsive enhancer element-binding protein 803) (TaxREB803)	SRRM2 KIAA0324 SRL300 SRM300 HSPC075	5 out of 5	TISSUE SPECIFICITY: Expressed in liver, placenta, and white blood cells. {ECO:0000269|PubMed:11004489}.	mRNA splicing, via spliceosome [GO:0000398]	NA	NA	11004489; 10668804; 9205841; 15616553; 15489334; 9531537; 11991638; 15144186; 17081983; 16964243; 17924679; 17525332; 18220336; 18669648; 19413330; 19854871; 19690332; 19608861; 20068231; 21269460; 21406692; 22223895; 22814378; 23186163; 24275569
16	11002114	nonsynonymous	G	A	0.684210526315789	0	CIITA	FALSE	P33076	reviewed	MHC class II transactivator (CIITA) (EC 2.3.1.-) (EC 2.7.11.1)	CIITA MHC2TA	5 out of 5	NA	immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transcription from RNA polymerase II promoter [GO:0000122]; positive regulation of MHC class I biosynthetic process [GO:0045345]; positive regulation of MHC class II biosynthetic process [GO:0045348]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; response to antibiotic [GO:0046677]; response to interferon-gamma [GO:0034341]; transcription, DNA-templated [GO:0006351]	DISEASE: Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. {ECO:0000269|PubMed:10501838, ECO:0000269|PubMed:11466404, ECO:0000269|PubMed:11862382, ECO:0000269|PubMed:7749984, ECO:0000269|PubMed:8402893}. Note=The disease is caused by mutations affecting the gene represented in this entry.	572;	8402893; 7749984; 12919287; 12859996; 15616553; 10464099; 11172716; 17493635; 16600381; 23007646; 24036077; 10501838; 11466404; 11862382
16	11348706	nonsynonymous	C	G	0.441176470588235	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	0.55	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	24950880	nonsynonymous	C	T	0.478260869565217	1	ARHGAP17	TRUE	Q68EM7	reviewed	Rho GTPase-activating protein 17 (Rho-type GTPase-activating protein 17) (RhoGAP interacting with CIP4 homologs protein 1) (RICH-1)	ARHGAP17 RICH1 MSTP066 MSTP110	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at higher level in heart and placenta. {ECO:0000269|PubMed:11431473}.	regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]	NA	NA	11431473; 14702039; 17974005; 15489334; 11285285; 16678097; 18669648; 19690332; 20068231; 21269460; 21406692; 22814378; 23186163; 24275569; 25944712
16	55719143	nonsynonymous	G	A	0.565217391304348	1	SLC6A2	TRUE	P23975	reviewed	Sodium-dependent noradrenaline transporter (Norepinephrine transporter) (NET) (Solute carrier family 6 member 2)	SLC6A2 NAT1 NET1 SLC6A5	5 out of 5	NA	monoamine transport [GO:0015844]; norepinephrine transport [GO:0015874]; response to pain [GO:0048265]; synaptic transmission [GO:0007268]; transport [GO:0006810]	DISEASE: Orthostatic intolerance (OI) [MIM:604715]: Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. {ECO:0000269|PubMed:10684912}. Note=The disease is caused by mutations affecting the gene represented in this entry.	NA	2008212; 7488042; 9655936; 14702039; 15616553; 11343649; 10684912
16	69377470	nonsynonymous	A	G	0.35	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	71054116	nonsynonymous	T	C	0.409090909090909	0.4	HYDIN	TRUE	Q4G0P3	reviewed	Hydrocephalus-inducing protein homolog	HYDIN HYDIN1 KIAA1864	5 out of 5	NA	axonemal central apparatus assembly [GO:1904158]; cilium movement [GO:0003341]; epithelial cell development [GO:0002064]; trachea development [GO:0060438]; ventricular system development [GO:0021591]	DISEASE: Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus. {ECO:0000269|PubMed:23022101, ECO:0000269|PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.	244;	14702039; 15616553; 15489334; 17974005; 16938426; 17296793; 23022101; 25186273; 
16	81942028	nonsynonymous	C	G	0.48	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	84227823	nonsynonymous	G	T	0.428571428571429	0	ADAD2	FALSE	Q8NCV1	reviewed	Adenosine deaminase domain-containing protein 2 (Testis nuclear RNA-binding protein-like)	ADAD2 TENRL	2 out of 5	NA	RNA processing [GO:0006396]	NA	NA	14702039; 15489334
16	84227823	nonsynonymous	G	T	0.428571428571429	0	ADAD2	FALSE	Q8NCV1	reviewed	Adenosine deaminase domain-containing protein 2 (Testis nuclear RNA-binding protein-like)	ADAD2 TENRL	2 out of 5	NA	RNA processing [GO:0006396]	NA	NA	14702039; 15489334
16	90030474	nonsynonymous	G	A	0.615384615384615	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	1183612	nonsynonymous	T	C	0.392857142857143	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	0.421052631578947	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	5486122	nonsynonymous	C	T	0.538461538461538	0	NLRP1	TRUE	Q9C000	reviewed	NACHT, LRR and PYD domains-containing protein 1 (Caspase recruitment domain-containing protein 7) (Death effector filament-forming ced-4-like apoptosis protein) (Nucleotide-binding domain and caspase recruitment domain)	NLRP1 CARD7 DEFCAP KIAA0926 NAC NALP1	5 out of 5	TISSUE SPECIFICITY: Widely expressed (PubMed:11113115, PubMed:17164409). Abundantly expressed in primary immune cells (isoform 1 and isoform 2), including in neutrophils, monocytes/macrophages, dendritic cells (mostly Langerhans cells), and B- and T-lymphocytes (at protein level) (PubMed:15285719, PubMed:17164409). Strongly expressed in epithelial cells lining the glandular epithelium, such as that of the gastrointestinal tract (stomach, small intestine, colon), the respiratory tract (trachea and bronchi), and the endometrial and endocervical glands, gallbladder, prostate, and breast (at protein level). In testis, expressed in spermatogonia and primary spermatocytes, but not in Sertoli cells (at protein level). In the brain, expressed in neurons, in particular in pyramidal ones and in oligodendrocytes, but not detected in microglia (at protein level) (PubMed:17164409). Expressed in adult and fetal ocular tissues, including in adult and 24-week old fetal choroid, sclera, cornea, and optic nerve, as well as in adult retina and fetal retina/retinal pigment epithelium (PubMed:23349227). {ECO:0000269|PubMed:11113115, ECO:0000269|PubMed:15285719, ECO:0000269|PubMed:17164409, ECO:0000269|PubMed:23349227}.	activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; defense response to bacterium [GO:0042742]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; neuron apoptotic process [GO:0051402]; positive regulation of interleukin-1 beta secretion [GO:0050718]; regulation of inflammatory response [GO:0050727]; response to muramyl dipeptide [GO:0032495]	DISEASE: Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) [MIM:606579]: A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. {ECO:0000269|PubMed:17377159}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225]: A disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, and dystrophic nails. {ECO:0000269|PubMed:23349227}. Note=The disease is caused by mutations affecting the gene represented in this entry.	352662;3435;247871;	11270363; 11250163; 11076957; 11113115; 10231032; 14702039; 16625196; 15489334; 17974005; 22665479; 12191486; 15285719; 15212762; 17418785; 17431422; 17164409; 17349957; 18511561; 19651869; 22087307; 22801494; 23349227; 24439873; 26347139; 26086088; 14527388; 17377159; 
17	17700037	nonsynonymous	AAGGAGGAGAGGC	AAGGAGAGGC	0.611111111111111	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	37884176	nonsynonymous	C	A	0.2	1	ERBB2	TRUE	P04626	reviewed	Receptor tyrosine-protein kinase erbB-2 (EC 2.7.10.1) (Metastatic lymph node gene 19 protein) (MLN 19) (Proto-oncogene Neu) (Proto-oncogene c-ErbB-2) (Tyrosine kinase-type cell surface receptor HER2) (p185erbB2) (CD antigen CD340)	ERBB2 HER2 MLN19 NEU NGL	5 out of 5	TISSUE SPECIFICITY: Expressed in a variety of tumor tissues including primary breast tumors and tumors from small bowel, esophagus, kidney and mouth. {ECO:0000269|PubMed:15380516}.	cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cellular response to growth factor stimulus [GO:0071363]; enzyme linked receptor protein signaling pathway [GO:0007167]; ERBB2 signaling pathway [GO:0038128]; heart development [GO:0007507]; MAPK cascade [GO:0000165]; motor neuron axon guidance [GO:0008045]; myelination [GO:0042552]; negative regulation of immature T cell proliferation in thymus [GO:0033088]; neuromuscular junction development [GO:0007528]; oligodendrocyte differentiation [GO:0048709]; peripheral nervous system development [GO:0007422]; phosphatidylinositol 3-kinase signaling [GO:0014065]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell growth [GO:0030307]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of GTPase activity [GO:0043547]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of transcription from RNA polymerase III promoter [GO:0045945]; positive regulation of transcription from RNA polymerase I promoter [GO:0045943]; positive regulation of translation [GO:0045727]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of angiogenesis [GO:0045765]; regulation of cell motility [GO:2000145]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of microtubule-based process [GO:0032886]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; signal transduction [GO:0007165]; transcription, DNA-templated [GO:0006351]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; wound healing [GO:0042060]	DISEASE: Hereditary diffuse gastric cancer (HDGC) [MIM:137215]: A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Note=Chromosomal aberrations involving ERBB2 may be a cause gastric cancer. Deletions within 17q12 region producing fusion transcripts with CDK12, leading to CDK12-ERBB2 fusion leading to truncated CDK12 protein not in-frame with ERBB2.	NA	3003577; 2999974; 15489334; 3039351; 24722188; 2995967; 2992089; 8104414; 10358079; 10805725; 12939402; 15380516; 15210733; 15156151; 16314522; 17081983; 16794579; 16978839; 17554007; 18691976; 18669648; 18719096; 19372587; 20010870; 20937854; 20068231; 21097718; 21555369; 21190959; 21406692; 23186163; 24275569; 10593938; 12444095; 12975581; 12610629; 15093539; 19299620; 20696930; 21454582; 8095488; 15457249; 17344846
17	38633854	nonsynonymous	C	T	0.526315789473684	0	TNS4	TRUE	Q8IZW8	reviewed	Tensin-4 (C-terminal tensin-like protein)	TNS4 CTEN PP14434	5 out of 5	TISSUE SPECIFICITY: Prostate and placenta. Down regulated in prostate cancer. {ECO:0000269|PubMed:12154022}.	apoptotic process [GO:0006915]; protein localization [GO:0008104]	NA	NA	12154022; 15498874; 14702039; 16625196; 15489334; 15806167; 18691976; 21269460; 16959974
17	39742953	nonsynonymous	G	A	0.583333333333333	0	KRT14	TRUE	P02533	reviewed	Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)	KRT14	5 out of 5	TISSUE SPECIFICITY: Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen. {ECO:0000269|PubMed:9457912}.	aging [GO:0007568]; epidermis development [GO:0008544]; epithelial cell differentiation [GO:0030855]; hair cycle [GO:0042633]; hemidesmosome assembly [GO:0031581]; intermediate filament bundle assembly [GO:0045110]; response to ionizing radiation [GO:0010212]; response to zinc ion [GO:0010043]	DISEASE: Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. {ECO:0000269|PubMed:10583131, ECO:0000269|PubMed:10730767, ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:10820403, ECO:0000269|PubMed:11710919, ECO:0000269|PubMed:12603865, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14987259, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:1717157, ECO:0000269|PubMed:7561171, ECO:0000269|PubMed:7688405, ECO:0000269|PubMed:8601736, ECO:0000269|PubMed:9804355, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.30}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. {ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:12603865, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:12707098, ECO:0000269|PubMed:14987259, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:7506097, ECO:0000269|PubMed:7506606, ECO:0000269|PubMed:7561171, ECO:0000269|PubMed:9284105, ECO:0000269|PubMed:9804357, ECO:0000269|PubMed:9989794}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. {ECO:0000269|PubMed:10733662, ECO:0000269|PubMed:10820403, ECO:0000269|PubMed:11710919, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:1720261, ECO:0000269|PubMed:7526926, ECO:0000269|PubMed:7682883, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.10, ECO:0000269|Ref.30}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. {ECO:0000269|PubMed:7526933}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. {ECO:0000269|PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. {ECO:0000269|PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.	86920;79397;79396;79399;89838;79400;69087;	6210150; 2580298; 16625196; 15489334; 6186381; 8601736; 1717157; 7526926; 9457912; 11684708; 11724817; 18691976; 21269460; 24275569; 25944712; 22705788; 1720261; 7506606; 7682883; 7688405; 7526933; 7506097; 7561171; 9284105; 9804355; 9804357; 10583131; 9989794; 10730767; 10733662; 10820403; 11710919; 12707098; 12655565; 12603865; 14987259; 16960809; 16882168; 16786515; 24981776
17	40824339	nonsynonymous	G	A	0.636363636363636	1	PLEKHH3	FALSE	Q7Z736	reviewed	Pleckstrin homology domain-containing family H member 3 (PH domain-containing family H member 3)	PLEKHH3	3 out of 5	NA	signal transduction [GO:0007165]	NA	NA	14702039; 16625196; 15489334; 17974005; 18669648
17	55957068	nonsynonymous	G	A	0.551724137931034	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	0.45	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	62892873	nonsynonymous	T	C	0.4375	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	79427389	nonsynonymous	G	A	0.625	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	0.5	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
17	80085648	nonsynonymous	C	G	0.375	0	CCDC57	TRUE	Q2TAC2	reviewed	Coiled-coil domain-containing protein 57	CCDC57	5 out of 5	NA	NA	NA	NA	16625196; 15489334; 12693554
18	60383323	nonsynonymous	C	T	0.526315789473684	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	0.56	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	0.5	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
19	519341	nonsynonymous	G	T	0.375	1	TPGS1	TRUE	Q6ZTW0	reviewed	Tubulin polyglutamylase complex subunit 1 (PGs1)	TPGS1 C19orf20	4 out of 5	NA	adult behavior [GO:0030534]; multicellular organism development [GO:0007275]; protein polyglutamylation [GO:0018095]; sperm axoneme assembly [GO:0007288]; synaptic transmission [GO:0007268]; vesicle localization [GO:0051648]	NA	NA	14702039; 15489334; 23186163
19	617466	nonsynonymous	A	G	0.470588235294118	0	POLRMT	TRUE	O00411	reviewed	DNA-directed RNA polymerase, mitochondrial (MtRPOL) (EC 2.7.7.6)	POLRMT	5 out of 5	NA	mitochondrion organization [GO:0007005]; transcription from mitochondrial promoter [GO:0006390]; transcription initiation from mitochondrial promoter [GO:0006391]	NA	NA	9097968; 15057824; 12068295; 21269460; 21278163; 25944712
19	1003240	nonsynonymous	C	T	0.461538461538462	0.9	GRIN3B	TRUE	O60391	reviewed	Glutamate receptor ionotropic, NMDA 3B (GluN3B) (N-methyl-D-aspartate receptor subtype 3B) (NMDAR3B) (NR3B)	GRIN3B	5 out of 5	NA	ionotropic glutamate receptor signaling pathway [GO:0035235]; protein insertion into membrane [GO:0051205]; regulation of calcium ion transport [GO:0051924]	NA	NA	15057824; 11735224; 11717388; 15722182
19	1828148	nonsynonymous	G	A	0.272727272727273	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	3751061	nonsynonymous	C	T	0.478260869565217	1	MIR1268A	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
19	3751061	nonsynonymous	C	T	0.478260869565217	1	APBA3	TRUE	O96018	reviewed	Amyloid beta A4 precursor protein-binding family A member 3 (Adapter protein X11gamma) (Neuron-specific X11L2 protein) (Neuronal Munc18-1-interacting protein 3) (Mint-3)	APBA3 MINT3 X11L2	5 out of 5	TISSUE SPECIFICITY: Expressed in all tissues examined with lower levels in brain and testis.	in utero embryonic development [GO:0001701]; negative regulation of catalytic activity [GO:0043086]; protein transport [GO:0015031]; regulation of gene expression [GO:0010468]; synaptic transmission [GO:0007268]	NA	NA	10049767; 15057824; 15489334; 10574372; 9860131; 18691976; 19726677; 19369195; 22814378; 23186163; 24275569; 18669648
19	4175104	nonsynonymous	C	T	0.6	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	0.423076923076923	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	13255588	nonsynonymous	C	T	0.722222222222222	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	0.347826086956522	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	0.4	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	16908639	nonsynonymous	C	T	0.363636363636364	0.9	NWD1	TRUE	Q149M9	reviewed	NACHT domain- and WD repeat-containing protein 1	NWD1	4 out of 5	TISSUE SPECIFICITY: Expressed at highest levels in prostate, followed by testis, retina, trachea and optic nerve. Also detected in brain, epididymis, lung, vagina and pituitary. In the prostate, tends to be up-regulated during malignant progression compared to normal epithelium (at protein level). {ECO:0000269|PubMed:24681825}.	NA	NA	NA	17974005; 15057824; 15489334; 24681825
19	17622512	nonsynonymous	G	A	0.4375	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	19744614	nonsynonymous	C	T	0.4	0.1	GMIP	TRUE	Q9P107	reviewed	GEM-interacting protein (GMIP)	GMIP	5 out of 5	NA	intracellular signal transduction [GO:0035556]; mitophagy in response to mitochondrial depolarization [GO:0098779]; negative regulation of GTPase activity [GO:0034260]; positive regulation of defense response to virus by host [GO:0002230]; regulation of small GTPase mediated signal transduction [GO:0051056]; xenophagy [GO:0098792]	NA	NA	12093360; 15057824; 15489334; 16964243; 18088087; 18669648; 19413330; 19369195; 19690332; 21269460; 21406692; 23186163; 24275569; 
19	22270813	nonsynonymous	AGAGCG	GGAACA	0.294117647058824	0	ZNF257	TRUE	Q9Y2Q1	reviewed	Zinc finger protein 257 (Bone marrow zinc finger 4) (BMZF-4)	ZNF257 BMZF4	3 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	10585455; 14702039; 15057824; 15489334
19	30193632	nonsynonymous	T	C	0.545454545454545	0	C19orf12	TRUE	Q9NSK7	reviewed	Protein C19orf12	C19orf12	5 out of 5	NA	NA	DISEASE: Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. {ECO:0000269|PubMed:21981780, ECO:0000269|PubMed:22508347, ECO:0000269|PubMed:22584950, ECO:0000269|PubMed:23269600, ECO:0000269|PubMed:23521069, ECO:0000269|PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]: 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. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. {ECO:0000269|PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.	320370;289560;	14702039; 15057824; 15489334; 17974005; 23521069; 21981780; 22584950; 22508347; 23269600; 23857908
19	39575997	nonsynonymous	G	A	0.454545454545455	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	44111896	nonsynonymous	G	T	0.294117647058824	0	ZNF428	TRUE	Q96B54	reviewed	Zinc finger protein 428 (Enzyme-like protein PIT13)	ZNF428 C19orf37	2 out of 5	NA	NA	NA	NA	15057824; 15489334; 18669648; 23186163
19	45682876	nonsynonymous	C	G	0.5	1	BLOC1S3	TRUE	Q6QNY0	reviewed	Biogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC-1 subunit 3)	BLOC1S3 BLOS3	5 out of 5	NA	anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; endosome to melanosome transport [GO:0035646]; eye development [GO:0001654]; melanosome organization [GO:0032438]; melanosome transport [GO:0032402]; neuron projection development [GO:0031175]; pigmentation [GO:0043473]; platelet activation [GO:0030168]; platelet dense granule organization [GO:0060155]; positive regulation of natural killer cell activation [GO:0032816]; response to drug [GO:0042493]; secretion of lysosomal enzymes [GO:0033299]	DISEASE: Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:16385460}. Note=The disease is caused by mutations affecting the gene represented in this entry.	231537;	15102850; 14702039; 15489334; 16385460; 17182842; 18669648; 19413330; 19690332; 20068231; 22203680; 23186163; 24275569
19	49216607	nonsynonymous	G	A	0.428571428571429	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	50097746	nonsynonymous	G	A	0.470588235294118	1	PRR12	TRUE	Q9ULL5	reviewed	Proline-rich protein 12	PRR12 KIAA1205	2 out of 5	NA	NA	NA	NA	10574462; 15057824; 10737800; 15489334; 17081983; 18220336; 18669648; 19413330; 19690332; 19608861; 20068231; 21406692; 23186163; 24275569
19	52002957	nonsynonymous	C	T	0.529411764705882	0	SIGLEC12	TRUE	Q96PQ1	reviewed	Sialic acid-binding Ig-like lectin 12 (Siglec-12) (Sialic acid-binding Ig-like lectin-like 1) (Siglec-L1)	SIGLEC12 SIGLECL1 SLG UNQ9215/PRO34042	5 out of 5	TISSUE SPECIFICITY: Isoform Short is highly expressed in spleen, small intestine and adrenal gland; it is lower expressed in thyroid, placenta, brain, stomach, bone marrow, spinal chord and breast. Isoform Long is highly expressed in spleen, small intestine and bone marrow; it is lower expressed in thyroid, placenta, thymus, trachea, stomach, lung, adrenal gland, fetal brain and testis.	cell adhesion [GO:0007155]	NA	NA	11409877; 11546777; 12975309; 15489334
19	52537202	nonsynonymous	C	T	0.476190476190476	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	53761857	nonsynonymous	G	T	0.384615384615385	0	VN1R2	TRUE	Q8NFZ6	reviewed	Vomeronasal type-1 receptor 2 (G-protein coupled receptor GPCR25) (hGPCR25) (V1r-like receptor 2)	VN1R2 V1RL2	3 out of 5	NA	response to pheromone [GO:0019236]	NA	NA	12123587; 12826614; 12044878; 15489334
19	53854501	nonsynonymous	C	G	0.260869565217391	0	ZNF845	TRUE	Q96IR2	reviewed	Zinc finger protein 845	ZNF845	2 out of 5	NA	regulation of transcription, DNA-templated [GO:0006355]; transcription, DNA-templated [GO:0006351]	NA	NA	14702039; 15057824; 15489334
19	54744710	nonsynonymous	CC	TG	0.382352941176471	0	LILRB3	TRUE	O75022	reviewed	Leukocyte immunoglobulin-like receptor subfamily B member 3 (LIR-3) (Leukocyte immunoglobulin-like receptor 3) (CD85 antigen-like family member A) (Immunoglobulin-like transcript 5) (ILT-5) (Monocyte inhibitory receptor HL9) (CD antigen CD85a)	LILRB3 ILT5 LIR3	5 out of 5	TISSUE SPECIFICITY: Detected in monocytes and B-cells. {ECO:0000269|PubMed:9548455}.	adaptive immune response [GO:0002250]; cell surface receptor signaling pathway [GO:0007166]; defense response [GO:0006952]; negative regulation of osteoclast differentiation [GO:0045671]	NA	NA	9278324; 9548455; 15057824; 10941842
19	54744710	nonsynonymous	CC	TG	0.382352941176471	0	LILRA6	TRUE	Q6PI73	reviewed	Leukocyte immunoglobulin-like receptor subfamily A member 6 (Immunoglobulin-like transcript 8) (ILT-8) (Leukocyte Ig-like receptor)	LILRA6 ILT8	4 out of 5	NA	adaptive immune response [GO:0002250]	NA	NA	15057824; 15489334; 10941842
19	57987104	nonsense	C	T	0.444444444444444	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	0.533333333333333	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	2321204	nonsynonymous	T	A	0.5	1	TGM3	TRUE	Q08188	reviewed	Protein-glutamine gamma-glutamyltransferase E (EC 2.3.2.13) (Transglutaminase E) (TG(E)) (TGE) (TGase E) (Transglutaminase-3) (TGase-3) [Cleaved into: Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain; Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chain]	TGM3	5 out of 5	NA	cell envelope organization [GO:0043163]; cellular protein modification process [GO:0006464]; hair follicle morphogenesis [GO:0031069]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]; protein tetramerization [GO:0051262]	NA	NA	8099584; 14702039; 11780052; 15489334; 16565075; 19690332; 21269460; 11980702; 12679341
20	31647276	nonsynonymous	T	G	0.56	1	BPIFB3	TRUE	P59826	reviewed	BPI fold-containing family B member 3 (Ligand-binding protein RYA3) (Long palate, lung and nasal epithelium carcinoma-associated protein 3)	BPIFB3 C20orf185 LPLUNC3	4 out of 5	TISSUE SPECIFICITY: Detected in nasal septal epithelium. {ECO:0000269|PubMed:11971875}.	innate immune response [GO:0045087]	NA	NA	12837268; 11780052; 11971875
20	47989527	nonsynonymous	C	T	0.538461538461538	1	KCNB1	TRUE	Q14721	reviewed	Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (h-DRK1) (Voltage-gated potassium channel subunit Kv2.1)	KCNB1	5 out of 5	TISSUE SPECIFICITY: Expressed in neocortical pyramidal cells (PubMed:24477962). Expressed in pancreatic beta cells (at protein level) (PubMed:12403834, PubMed:14988243). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland (PubMed:19074135). Expressed in the cortex, amygdala, cerebellum, pons, thalamus, hypothalamus, hippocampus and substantia nigra (PubMed:19074135). {ECO:0000269|PubMed:12403834, ECO:0000269|PubMed:14988243, ECO:0000269|PubMed:19074135, ECO:0000269|PubMed:24477962}.	action potential [GO:0001508]; cellular response to glucose stimulus [GO:0071333]; cellular response to nutrient levels [GO:0031669]; glucose homeostasis [GO:0042593]; glutamate receptor signaling pathway [GO:0007215]; negative regulation of insulin secretion [GO:0046676]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; positive regulation of catecholamine secretion [GO:0033605]; positive regulation of long term synaptic depression [GO:1900454]; positive regulation of norepinephrine secretion [GO:0010701]; positive regulation of protein targeting to membrane [GO:0090314]; potassium ion transmembrane transport [GO:0071805]; protein homooligomerization [GO:0051260]; protein targeting to plasma membrane [GO:0072661]; regulation of action potential [GO:0098900]; regulation of insulin secretion [GO:0050796]; regulation of motor neuron apoptotic process [GO:2000671]; vesicle docking involved in exocytosis [GO:0006904]	DISEASE: Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO:0000269|PubMed:25164438, ECO:0000269|PubMed:26477325, ECO:0000269|PubMed:26503721}. Note=The disease is caused by mutations affecting the gene represented in this entry.	1934;	8081723; 1283219; 11780052; 10484328; 10414301; 11852086; 12403834; 12060745; 14565763; 12560340; 14988243; 15858231; 19357235; 19074135; 19717558; 19223394; 23161216; 24477962; 24901643; 25164438; 26503721; 26477325
20	49576664	nonsynonymous	T	G	0.578947368421053	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	0.608695652173913	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	62187308	nonsynonymous	G	A	0.423076923076923	0	FNDC11	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
22	18566288	nonsynonymous	C	G	0.368421052631579	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	20705118	nonsynonymous	A	G	0.368421052631579	0	LOC101927859	FALSE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
22	26068297	nonsynonymous	G	A	0.413793103448276	1	GRK3	TRUE	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA
22	32804176	nonsynonymous	G	T	0.552631578947368	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	36688178	nonsynonymous	G	A	0.52	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	39908419	nonsynonymous	C	T	0.666666666666667	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	42463813	nonsynonymous	C	T	0.375	1	NAGA	TRUE	P17050	reviewed	Alpha-N-acetylgalactosaminidase (EC 3.2.1.49) (Alpha-galactosidase B)	NAGA	5 out of 5	NA	carbohydrate catabolic process [GO:0016052]; glycolipid catabolic process [GO:0019377]; glycoside catabolic process [GO:0016139]	DISEASE: Schindler disease (SCHIND) [MIM:609241]: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. {ECO:0000269|PubMed:2243144, ECO:0000269|PubMed:8782044}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Kanzaki disease (KANZD) [MIM:609242]: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. {ECO:0000269|PubMed:11251574, ECO:0000269|PubMed:8040340}. Note=The disease is caused by mutations affecting the gene represented in this entry.	79279;79280;79281;	2174888; 1646157; 2551294; 2372288; 15461802; 10591208; 15489334; 2256909; 9741689; 17693683; 19159218; 25944712; 19683538; 2243144; 8040340; 8782044; 11251574
22	43539120	nonsynonymous	G	C	0.380952380952381	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	46655925	nonsynonymous	T	C	0.5	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	0.5	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	0.473684210526316	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
22	50878449	nonsynonymous	G	A	0.3	0.1	PPP6R2	TRUE	O75170	reviewed	Serine/threonine-protein phosphatase 6 regulatory subunit 2 (SAPS domain family member 2)	PPP6R2 KIAA0685 PP6R2 SAPS2	5 out of 5	TISSUE SPECIFICITY: Ubiquitously expressed with strongest expression in the testis followed by liver, heart, kidney, brain and placenta. {ECO:0000269|PubMed:16769727}.	NA	NA	NA	9734811; 14702039; 10591208; 15489334; 16769727; 18186651; 18691976; 18669648; 19369195; 19690332; 21269460; 23186163; 24275569
X	48925152	nonsynonymous	C	T	0.272727272727273	1	CCDC120	TRUE	Q96HB5	reviewed	Coiled-coil domain-containing protein 120	CCDC120 JM11	5 out of 5	NA	multicellular organism development [GO:0007275]	NA	NA	14702039; 15772651; 15489334; 17525332; 18669648; 19690332; 20068231; 23186163; 25326380
X	63488524	nonsynonymous	AG	TT	0.5	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	0.545454545454545	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	76856021	nonsynonymous	T	C	0.590909090909091	1	ATRX	TRUE	P46100	reviewed	Transcriptional regulator ATRX (EC 3.6.4.12) (ATP-dependent helicase ATRX) (X-linked helicase II) (X-linked nuclear protein) (XNP) (Znf-HX)	ATRX RAD54L XH2	5 out of 5	TISSUE SPECIFICITY: Ubiquitous.	cellular response to hydroxyurea [GO:0072711]; chromatin remodeling [GO:0006338]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; DNA methylation [GO:0006306]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication-independent nucleosome assembly [GO:0006336]; forebrain development [GO:0030900]; multicellular organism growth [GO:0035264]; negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric [GO:1904908]; negative regulation of telomeric RNA transcription from RNA pol II promoter [GO:1901581]; nucleosome assembly [GO:0006334]; positive regulation of nuclear cell cycle DNA replication [GO:0010571]; positive regulation of telomere maintenance [GO:0032206]; positive regulation of telomeric RNA transcription from RNA pol II promoter [GO:1901582]; positive regulation of transcription from RNA polymerase II promoter [GO:0045944]; post-embryonic forelimb morphogenesis [GO:0035128]; protein localization to chromosome, telomeric region [GO:0070198]; regulation of transcription, DNA-templated [GO:0006355]; replication fork processing [GO:0031297]; seminiferous tubule development [GO:0072520]; Sertoli cell development [GO:0060009]; spermatogenesis [GO:0007283]; transcription, DNA-templated [GO:0006351]	DISEASE: Alpha-thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. {ECO:0000269|PubMed:10204841, ECO:0000269|PubMed:10417298, ECO:0000269|PubMed:10660327, ECO:0000269|PubMed:10995512, ECO:0000269|PubMed:12116232, ECO:0000269|PubMed:16955409, ECO:0000269|PubMed:7697714, ECO:0000269|PubMed:8968741, ECO:0000269|PubMed:9043863, ECO:0000269|PubMed:9326931}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1) [MIM:309580]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. {ECO:0000269|PubMed:10398237, ECO:0000269|PubMed:10751095, ECO:0000269|PubMed:11050622, ECO:0000269|PubMed:15565397, ECO:0000269|PubMed:16222662, ECO:0000269|PubMed:8630485}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Alpha-thalassemia myelodysplasia syndrome (ATMDS) [MIM:300448]: A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia. {ECO:0000269|PubMed:12858175}. Note=The disease is caused by mutations affecting the gene represented in this entry.	231401;847;93973;93971;93970;93972;93974;	8968741; 9244431; 12777533; 15772651; 7874112; 8162050; 7697714; 9499421; 10570185; 10751095; 10699177; 12858175; 12953102; 14990586; 15882967; 17081983; 17296936; 17525332; 18669648; 19413330; 19690332; 19608861; 21029860; 20211137; 20504901; 20651253; 20068231; 21269460; 21421568; 21406692; 22391447; 22829774; 23222847; 23186163; 24275569; 25218447; 24500201; 24651726; 25114211; 25772364; 27029610; 17609377; 21666679; 21666677; 9043863; 8630485; 9326931; 10660327; 10417298; 10398237; 10204841; 10995512; 11050622; 12116232; 16222662; 15565397; 16955409
X	108708433	nonsynonymous	A	G	0.580645161290323	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	149931185	nonsynonymous	G	A	0.5	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
