# GREAT version 4.0.4	Species assembly: hg38	Association rule: Basal+extension: 5000 bp upstream, 1000 bp downstream, 1000000 bp max extension, curated regulatory domains included
# Ontology	 Term Name 	 Binom Rank 	 Binom Raw P-Value 	  Binom FDR Q-Val  	 Binom Fold Enrichment 	 Binom Observed Region Hits 	 Binom Region Set Coverage 	 Hyper Rank 	  Hyper FDR Q-Val  	 Hyper Fold Enrichment 	 Hyper Observed Gene Hits 	 Hyper Total Genes 	 Hyper Gene Set Coverage
GO Biological Process	RNA processing	1	1.021673e-69	1.3444195007e-65	2.048039	697	0.1241539	8	2.568730557875e-65	1.872184	532	893	0.08903766	
GO Biological Process	ncRNA metabolic process	2	1.972654e-64	1.2979076993000002e-60	2.509682	430	0.07659423	18	1.402357554222222e-44	1.925193	340	555	0.05690377	
GO Biological Process	ncRNA processing	3	4.80284e-53	2.1066857186666666e-49	2.666268	319	0.05682223	23	2.0722438479130435e-38	2.02364	255	396	0.04267782	
GO Biological Process	ribonucleoprotein complex biogenesis	4	6.159412e-52	2.0262925627e-48	2.389441	380	0.06768792	17	7.959685585294117e-46	2.041994	295	454	0.04937238	
GO Biological Process	ribosome biogenesis	5	1.876661e-50	4.9389964198e-47	2.774601	284	0.05058782	19	1.0042041521578947e-42	2.198843	226	323	0.03782427	
GO Biological Process	rRNA processing	7	8.098495e-46	1.522401367214286e-42	3.054675	222	0.039544	27	2.714034002592593e-34	2.219769	178	252	0.02979079	
GO Biological Process	rRNA metabolic process	8	1.081823e-45	1.779463607125e-42	3.012343	226	0.0402565	30	6.070913422666666e-34	2.196176	181	259	0.03029289	
GO Biological Process	RNA splicing, via transesterification reactions	15	1.240499e-34	1.0882484227333333e-31	2.351451	260	0.04631279	55	1.8044144767454547e-22	1.920474	176	288	0.02945607	
GO Biological Process	mRNA splicing, via spliceosome	17	4.768461e-34	3.6910693117058825e-31	2.339849	258	0.04595654	57	3.7658264598245615e-22	1.918636	174	285	0.02912134	
GO Biological Process	translation	18	7.276244e-32	5.319338599777778e-29	2.206635	272	0.0484503	40	2.0308442608e-26	1.875419	222	372	0.03715481	
GO Biological Process	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	19	2.90345e-31	2.010868344736842e-28	3.733502	114	0.02030638	93	4.35553419860215e-17	2.263733	85	118	0.01422594	
GO Biological Process	viral gene expression	23	2.456567e-29	1.4054767457826085e-26	3.470289	117	0.02084076	91	2.383424598021978e-17	2.227035	90	127	0.01506276	
GO Biological Process	multi-organism metabolic process	24	2.50699e-29	1.3745617254166666e-26	3.096446	137	0.02440328	87	5.871477736206898e-18	2.159197	101	147	0.01690377	
GO Biological Process	nuclear-transcribed mRNA catabolic process	25	2.754822e-29	1.4500281079199998e-26	2.725759	167	0.02974706	79	1.1292299239620253e-18	2.015704	127	198	0.02125523	
GO Biological Process	RNA catabolic process	26	4.630733e-29	2.343685213346154e-26	2.477974	196	0.03491272	66	9.186913980454546e-21	1.969011	151	241	0.02527197	
GO Biological Process	mRNA catabolic process	28	6.981555e-29	3.28108150875e-26	2.612417	177	0.03152832	72	9.572222127777778e-20	2.006539	136	213	0.02276151	
GO Biological Process	peptide biosynthetic process	30	1.122092e-27	4.921869542666667e-25	2.040141	281	0.05005344	45	5.407322598e-25	1.827835	228	392	0.038159	
GO Biological Process	translational initiation	31	2.402341e-27	1.0197550070645161e-24	3.067854	129	0.02297827	92	2.6594539245652173e-17	2.153666	98	143	0.01640167	
GO Biological Process	protein targeting to ER	34	1.659669e-26	6.4234071679411776e-24	3.664234	98	0.01745636	108	5.0291760702777776e-14	2.240265	72	101	0.01205021	
GO Biological Process	viral transcription	35	5.580245e-26	2.0980126844285717e-23	3.392954	106	0.01888137	97	8.398654423917525e-17	2.280467	82	113	0.01372385	
GO Cellular Component	intracellular ribonucleoprotein complex	11	2.433132e-69	3.8222291781818183e-67	2.174448	609	0.1084788	18	1.40770272e-46	1.764331	457	814	0.07648536	
GO Cellular Component	ribonucleoprotein complex	12	3.785003e-69	5.4504043199999994e-67	2.171679	609	0.1084788	19	1.8184589810526315e-46	1.761699	458	817	0.07665272	
GO Cellular Component	ribosomal subunit	18	2.978256e-40	2.85912576e-38	3.403969	167	0.02974706	25	1.8774519552e-24	2.191322	129	185	0.02158996	
GO Cellular Component	ribosome	21	9.909933e-32	8.154459154285714e-30	2.678853	187	0.03330958	31	7.985901832258064e-20	1.944147	146	236	0.02443515	
GO Cellular Component	large ribosomal subunit	25	4.156985e-26	2.8733080319999997e-24	3.480762	103	0.01834699	39	4.31502779076923e-15	2.186152	80	115	0.01338912	
GO Cellular Component	spliceosomal complex	29	1.931982e-24	1.1511947917241378e-22	2.464434	165	0.02939081	40	4.437072e-15	1.926106	114	186	0.0190795	
GO Cellular Component	catalytic step 2 spliceosome	32	2.633907e-21	1.4223097800000001e-19	3.106517	97	0.01727823	46	8.919785739130436e-11	2.095063	64	96	0.0107113	
GO Cellular Component	cytosolic part	35	7.795916e-20	3.848955099428571e-18	2.122819	180	0.0320627	37	2.3018958875675673e-15	1.820086	139	240	0.0232636	
GO Cellular Component	cytosolic ribosome	36	2.398259e-19	1.15116432e-17	2.76105	105	0.01870324	41	8.967059824390244e-15	2.188592	78	112	0.01305439	
GO Cellular Component	mitochondrial ribosome	37	3.113208e-19	1.4539522767567568e-17	3.769389	67	0.01193445	62	1.8471029574193548e-7	1.9595	53	85	0.008870293	
GO Cellular Component	small ribosomal subunit	41	2.740959e-16	1.1552139395121951e-14	3.313044	66	0.01175632	55	1.9211542690909094e-9	2.182357	50	72	0.008368201	
GO Cellular Component	spliceosomal snRNP complex	45	9.520313e-15	3.6558001920000004e-13	3.494353	55	0.009796936	68	7.534407811764706e-7	2.078167	41	62	0.006861925	
GO Cellular Component	mitochondrial large ribosomal subunit	46	1.288136e-14	4.838910886956522e-13	4.164762	44	0.007837549	81	0.000029847317333333334	2.033443	33	51	0.005523013	
GO Cellular Component	small nuclear ribonucleoprotein complex	48	3.639001e-13	1.3100403599999999e-11	3.069138	58	0.01033131	70	0.0000011826459154285717	2.003973	44	69	0.007364017	
GO Cellular Component	cytosolic large ribosomal subunit	50	8.1997e-13	2.83381632e-11	3.041512	57	0.01015319	56	3.6441761142857145e-9	2.266789	44	61	0.007364017	
GO Cellular Component	nuclear chromosome, telomeric region	54	7.529318e-12	2.40938176e-10	2.316353	84	0.01496259	135	0.0024324966399999997	1.476067	62	132	0.01037657	
GO Cellular Component	preribosome	56	1.036704e-11	3.1989723428571423e-10	2.731367	61	0.01086569	54	1.95171008e-9	2.150196	52	76	0.008702929	
GO Cellular Component	cytosolic small ribosomal subunit	57	1.186737e-11	3.597686905263158e-10	3.324082	45	0.008015675	69	7.506396939130435e-7	2.285523	32	44	0.005355649	
GO Cellular Component	endopeptidase complex	58	4.951266e-11	1.4751358013793105e-9	2.758119	56	0.009975062	97	0.0001152354744742268	1.821794	40	69	0.006694561	
GO Cellular Component	chromosome, telomeric region	59	7.259854e-11	2.1262758833898305e-9	2.074963	97	0.01727823	166	0.008304192346987952	1.373709	73	167	0.01221757	
GO Molecular Function	structural constituent of ribosome	3	3.956562e-28	5.568201588000001e-25	3.020892	136	0.02422515	7	4.340806476857143e-17	2.095063	108	162	0.01807531	
GO Molecular Function	rRNA binding	5	1.062856e-19	8.974756063999999e-17	4.763457	53	0.009440684	19	0.0000015262181129473684	2.147439	41	60	0.006861925	
GO Molecular Function	nuclease activity	8	1.344583e-16	7.0960367825e-14	2.077535	156	0.02778767	13	8.203875373846154e-9	1.689886	114	212	0.0190795	
GO Molecular Function	unfolded protein binding	10	4.042614e-15	1.7067916307999998e-12	2.826938	77	0.01371571	47	0.00020276155	1.689886	57	106	0.009539749	
GO Molecular Function	exonuclease activity	11	4.323366e-12	1.6593864774545455e-9	2.619812	68	0.01211258	17	6.905835992941176e-8	2.108846	51	76	0.008535565	
GO Molecular Function	snRNA binding	12	5.51601e-12	1.9407161849999998e-9	4.289196	34	0.006056288	95	0.010999887694736843	1.902096	23	38	0.003849372	
GO Molecular Function	exonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters	13	8.450265e-11	2.744386063846154e-8	3.033138	47	0.008371927	22	0.000006424532960000001	2.199816	35	50	0.005857741	
GO Molecular Function	ribonuclease activity	14	8.875312e-11	2.6765405188571426e-8	2.335618	74	0.01318133	31	0.00001435470466451613	1.809372	57	99	0.009539749	
GO Molecular Function	ribonucleoprotein complex binding	15	1.661439e-10	4.676396972e-8	2.218964	80	0.01425009	57	0.0007942841192982456	1.612287	59	115	0.009874477	
GO Molecular Function	deoxyribonuclease activity	16	2.298334e-9	6.0647288425e-7	2.450818	57	0.01015319	85	0.008847777178823528	1.658591	38	72	0.006359833	
GO Molecular Function	protein transporter activity	17	2.395015e-9	5.948090194117646e-7	2.122427	77	0.01371571	29	0.00001066126628413793	1.83318	56	96	0.009372385	
GO Molecular Function	RNA polymerase III activity	19	6.465275e-8	0.000014366521605263157	5.595712	16	0.002850018	111	0.018582752639639637	2.356946	12	16	0.002008368	
GO Molecular Function	5'-3' RNA polymerase activity	23	1.412053e-7	0.000025920381591304347	2.950878	32	0.005700036	98	0.012281720453061225	1.815721	26	45	0.004351464	
GO Molecular Function	3'-5' exonuclease activity	24	1.666572e-7	0.0000293177791	2.496547	42	0.007481297	33	0.000020626760115151515	2.136964	34	50	0.005690377	
GO Molecular Function	DNA-directed 5'-3' RNA polymerase activity	25	2.158186e-7	0.000036447445168	2.952894	31	0.00552191	100	0.013747921276000002	1.82709	25	43	0.0041841	
GO Molecular Function	RNA methyltransferase activity	26	4.223292e-7	0.0000685797647076923	2.325765	45	0.008015675	44	0.00019533188550000002	1.950576	36	58	0.006025105	
GO Molecular Function	RNA-dependent ATPase activity	27	4.728423e-7	0.00007393852557777779	2.097102	56	0.009975062	14	1.780962942714286e-8	2.218302	48	68	0.008033473	
GO Molecular Function	ATP-dependent RNA helicase activity	28	5.596592e-7	0.00008438861222857143	2.101339	55	0.009796936	16	3.4882427875000005e-8	2.204506	47	67	0.007866109	
GO Molecular Function	RNA helicase activity	30	7.565043e-7	0.00010646537181999999	2.080098	55	0.009796936	18	6.940041505555556e-8	2.172087	47	68	0.007866109	
GO Molecular Function	nucleosome binding	31	8.35751e-7	0.00011382389425806453	2.105635	53	0.009440684	81	0.005651762056790123	1.714142	36	66	0.006025105	
Human Phenotype	Increased serum lactate	1	6.257146e-18	4.1753935258000004e-14	2.926489	88	0.0156751	32	2.8299317168750003e-8	1.979834	63	100	0.01054393	
Human Phenotype	Abnormal CSF metabolite level	2	6.211906e-14	2.0726024368999998e-10	3.331844	55	0.009796936	81	0.00024046847514814812	1.895533	38	63	0.006359833	
Human Phenotype	Abnormal CNS myelination	3	1.168728e-13	2.599640648e-10	2.302291	100	0.01781261	40	3.7908412144999996e-7	1.810134	72	125	0.01205021	
Human Phenotype	Increased CSF lactate	5	7.209198e-13	9.6213956508e-10	3.344646	50	0.008906306	97	0.0004845843168041237	1.896393	35	58	0.005857741	
Human Phenotype	Exercise intolerance	6	9.781345e-13	1.0878485864166667e-9	3.063698	56	0.009975062	106	0.0006592382605660377	1.795768	40	70	0.006694561	
Human Phenotype	Lactic acidosis	7	1.141075e-12	1.0877704964285714e-9	2.163797	105	0.01870324	43	0.0000012855196194418606	1.743337	76	137	0.01271967	
Human Phenotype	Leukodystrophy	11	4.360654e-10	2.6453312856363633e-7	2.84229	48	0.008550053	58	0.00001854897261551724	2.136964	34	50	0.005690377	
Human Phenotype	Abnormality of the mitochondrion	12	5.044778e-10	2.8053169661666666e-7	2.489213	60	0.01068757	96	0.00039543398630208335	1.814737	41	71	0.006861925	
Human Phenotype	Abnormality of mitochondrial metabolism	14	3.542349e-9	0.0000016884353483571429	2.420177	57	0.01015319	113	0.0011270561177876108	1.776249	39	69	0.006527197	
Human Phenotype	Decreased activity of mitochondrial respiratory chain	23	3.326017e-7	0.00009649787583043478	4.004731	20	0.003562522	201	0.0387506421840796	2.304569	11	15	0.001841004	
Human Phenotype	Abnormal mitochondria in muscle tissue	25	6.119839e-7	0.000163350742588	3.562214	22	0.003918774	194	0.03492978410309278	2.049518	15	23	0.00251046	
Human Phenotype	CNS hypomyelination	27	7.463153e-7	0.0001844504443296296	3.11578	26	0.004631279	89	0.00027399150556179773	2.304569	22	30	0.003682008	
Human Phenotype	Progressive microcephaly	34	0.000007497839	0.001471561166088235	2.076359	45	0.008015675	71	0.00006682309304929577	2.074112	33	50	0.005523013	
Human Phenotype	Infantile encephalopathy	72	0.0001475427	0.013674339404166668	6.369982	7	0.001246883	195	0.035466071046153846	3.142594	6	6	0.001004184