# 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	viral gene expression	21	9.307607e-44	5.83232383395238e-41	2.378985	331	0.01428695	164	6.921348353414634e-14	1.481991	119	127	0.01002358	
GO Biological Process	multi-organism metabolic process	26	2.109468e-37	1.0676342081538461e-34	2.075707	379	0.01635877	167	8.192289102994011e-14	1.452509	135	147	0.01137129	
GO Biological Process	viral transcription	27	2.146548e-37	1.0461638937777778e-34	2.311385	298	0.01286257	202	1.3953249879702971e-11	1.469647	105	113	0.00884434	
GO Biological Process	cotranslational protein targeting to membrane	30	2.275046e-36	9.979110104666667e-34	2.453244	257	0.01109289	258	3.4675826641472863e-9	1.452509	90	98	0.007580863	
GO Biological Process	mitochondrial transmembrane transport	34	6.510504e-36	2.5197565334117646e-33	2.421986	260	0.01122238	398	0.000013064565990452262	1.391064	73	83	0.006148922	
GO Biological Process	SRP-dependent cotranslational protein targeting to membrane	38	1.100283e-34	3.8101642097368423e-32	2.466549	242	0.01044544	262	5.08934370038168e-9	1.46128	85	92	0.007159704	
GO Biological Process	protein targeting to ER	42	2.533413e-33	7.937424206428571e-31	2.337549	258	0.01113605	266	6.6728101721804505e-9	1.440684	92	101	0.007749326	
GO Biological Process	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	43	1.574101e-32	4.81711513e-30	2.222048	280	0.01208564	276	1.0502274184057971e-8	1.407374	105	118	0.00884434	
GO Biological Process	protein localization to endoplasmic reticulum	54	1.417191e-29	3.453484512777778e-27	2.039949	309	0.01333736	246	1.4414855376016261e-9	1.415806	111	124	0.00934973	
GO Biological Process	establishment of protein localization to endoplasmic reticulum	59	8.442044e-29	1.8828619829830506e-26	2.136238	269	0.01161084	250	1.6043358055200002e-9	1.446053	96	105	0.008086253	
GO Biological Process	tRNA transport	73	7.845671e-27	1.414262803958904e-24	2.850233	143	0.006172307	605	0.0005137345376363636	1.491242	33	35	0.00277965	
GO Biological Process	translational elongation	74	3.450465e-26	6.135766072297297e-24	2.076442	260	0.01122238	549	0.00022773557435154827	1.299188	92	112	0.007749326	
GO Biological Process	purine ribonucleoside monophosphate biosynthetic process	79	1.85356e-25	3.087467853164557e-23	2.379513	187	0.008071478	570	0.0003065017365964912	1.383918	56	64	0.004716981	
GO Biological Process	heterochromatin organization	93	4.565726e-24	6.460256820860214e-22	3.727582	87	0.00375518	1062	0.03189469003013183	1.581621	13	13	0.001095013	
GO Biological Process	protein targeting to mitochondrion	103	1.762536e-22	2.25176808e-20	2.226298	188	0.008114641	405	0.00001580363083728395	1.466594	51	55	0.004295822	
GO Biological Process	mitochondrial translational termination	114	2.621419e-21	3.025899352719298e-19	2.169055	188	0.008114641	910	0.012998447185604394	1.254389	69	87	0.005811995	
GO Biological Process	mitochondrial genome maintenance	116	3.719473e-21	4.219357345431034e-19	2.983146	103	0.004445787	659	0.0013072573924430956	1.581621	21	21	0.001768868	
GO Biological Process	intracellular protein transmembrane transport	121	1.57379e-20	1.7115291413223142e-18	2.199349	175	0.007553522	647	0.0009565828272952087	1.383918	49	56	0.004127358	
GO Biological Process	protein transmembrane transport	122	1.830502e-20	1.9743914604918032e-18	2.123181	189	0.008157804	759	0.003952228499077734	1.33057	53	63	0.004464286	
GO Biological Process	mitochondrial translational elongation	129	5.366159e-20	5.473898161317829e-18	2.134643	182	0.007855663	867	0.009450195801614766	1.265296	68	85	0.005727763	
GO Cellular Component	ribosomal subunit	27	1.113134e-38	7.1240576e-37	2.034934	412	0.01778315	62	1.4431130012903226e-8	1.325142	155	185	0.01305593	
GO Cellular Component	intrinsic component of mitochondrial membrane	31	3.224023e-30	1.7971328206451612e-28	2.420515	217	0.009366367	93	0.000007856749625806452	1.435625	59	65	0.004969677	
GO Cellular Component	integral component of mitochondrial membrane	32	7.924522e-30	4.27924188e-28	2.414928	215	0.009280041	96	0.000010978579799999999	1.433344	58	64	0.004885445	
GO Cellular Component	large ribosomal subunit	34	2.334521e-28	1.1864859670588235e-26	2.145469	262	0.0113087	94	0.000008661099982978723	1.334063	97	115	0.008170485	
GO Cellular Component	mitochondrial ribosome	39	3.296141e-25	1.4604440123076922e-23	2.42661	178	0.007683011	243	0.04529691022222222	1.209475	65	85	0.005475067	
GO Cellular Component	sex chromosome	54	1.648401e-16	5.2748832e-15	2.593571	99	0.004273135	231	0.03160386327272727	1.399126	23	26	0.001937332	
GO Cellular Component	cytosolic large ribosomal subunit	62	4.697831e-15	1.3093309625806452e-13	2.00415	155	0.006690262	105	0.000029846970514285712	1.426051	55	61	0.004632749	
GO Cellular Component	intercellular bridge	73	1.718214e-13	4.06722437260274e-12	2.027272	133	0.005740677	187	0.005770495212834225	1.365945	38	44	0.003200809	
GO Cellular Component	spliceosomal snRNP complex	75	3.672232e-13	8.460822528e-12	2.016784	131	0.005654351	100	0.000021828303359999998	1.428561	56	62	0.004716981	
GO Cellular Component	PRC1 complex	89	9.447045e-12	1.8342127820224718e-10	3.825826	38	0.001640193	226	0.031140035681415934	1.581621	12	12	0.001010782	
GO Cellular Component	MLL1 complex	91	1.157449e-11	2.1978811780219784e-10	2.358512	80	0.003453039	104	0.00002761049907692308	1.581621	29	29	0.002442722	
GO Cellular Component	nuclear ubiquitin ligase complex	92	2.144302e-11	4.0275585391304353e-10	2.160677	94	0.00405732	130	0.0003173304516923077	1.462999	37	40	0.003116577	
GO Cellular Component	endoribonuclease complex	93	2.523015e-11	4.68792464516129e-10	2.292085	82	0.003539365	165	0.002712570414545454	1.472543	27	29	0.002274259	
GO Cellular Component	COPI-coated vesicle	105	1.704271e-10	2.8047431314285716e-9	2.353769	71	0.003064572	215	0.021066152483720933	1.444088	21	23	0.001768868	
GO Cellular Component	spliceosomal tri-snRNP complex	116	1.623906e-9	2.4190599724137932e-8	2.27222	68	0.002935083	135	0.000380884864	1.527082	28	29	0.002358491	
GO Cellular Component	endoplasmic reticulum subcompartment	120	4.36277e-9	6.282388800000001e-8	2.133346	74	0.003194061	186	0.005310368825806451	1.509729	21	22	0.001768868	
GO Cellular Component	endoplasmic reticulum tubular network	131	2.068719e-8	2.7288140702290077e-7	2.124579	68	0.002935083	219	0.02351246202739726	1.493753	17	18	0.001431941	
GO Cellular Component	U12-type spliceosomal complex	148	2.263143e-7	0.0000026423723675675677	2.120102	58	0.002503453	153	0.001202531011764706	1.520789	25	26	0.002105795	
GO Cellular Component	preribosome, large subunit precursor	150	2.547885e-7	0.0000029351635199999997	2.068057	61	0.002632942	202	0.010481440633663368	1.455091	23	25	0.001937332	
GO Cellular Component	U4/U6 x U5 tri-snRNP complex	158	6.889672e-7	0.0000075350336810126584	2.059923	57	0.00246029	164	0.0026074308292682925	1.51572	23	24	0.001937332	
GO Molecular Function	unfolded protein binding	6	8.066217e-38	5.675928029e-35	2.42869	273	0.01178349	68	1.8776637194117646e-7	1.402569	94	106	0.00791779	
GO Molecular Function	ribonucleoprotein complex binding	9	7.251879e-30	3.401937015333333e-27	2.056675	306	0.01320787	40	7.360199934000001e-11	1.457842	106	115	0.008928571	
GO Molecular Function	rRNA binding	15	6.672342e-20	1.8780418616e-17	2.613434	120	0.005179558	147	0.005010747146938776	1.344378	51	60	0.004295822	
GO Molecular Function	DNA polymerase binding	20	7.615123e-16	1.6075524653e-13	4.039165	50	0.002158149	176	0.01558665965681818	1.581621	16	16	0.001347709	
GO Molecular Function	snRNA binding	30	8.301206e-13	1.1682563910666667e-10	2.476087	81	0.003496202	160	0.0073505257487500005	1.415134	34	38	0.002863881	
GO Molecular Function	DNA N-glycosylase activity	67	1.926361e-8	0.0000012138949465671642	2.984843	36	0.001553867	200	0.03434242352	1.581621	14	14	0.001179245	
GO Molecular Function	mRNA 5'-UTR binding	75	8.999439e-8	0.0000050660841944	2.078077	65	0.002805594	173	0.01394973692716763	1.509729	21	22	0.001768868	
GO Molecular Function	H4 histone acetyltransferase activity	98	6.548465e-7	0.000028211856357142856	2.267308	46	0.001985497	168	0.010319025383333333	1.581621	17	17	0.001431941	
Human Phenotype	Exercise intolerance	1	1.066333e-24	7.115640109e-21	2.386241	180	0.007769337	270	0.00018033471093333335	1.378269	61	70	0.00513814	
Human Phenotype	Increased serum lactate	2	1.757432e-24	5.863671868e-21	2.038771	253	0.01092023	143	4.970003735664336e-8	1.423459	90	100	0.007580863	
Human Phenotype	Increased CSF lactate	4	4.782735e-20	7.97879766375e-17	2.366557	146	0.006301796	178	6.811730920224718e-7	1.499813	55	58	0.004632749	
Human Phenotype	Abnormal CSF metabolite level	5	5.106236e-20	6.8147825656e-17	2.289974	156	0.006733425	200	0.0000050069354075	1.456095	58	63	0.004885445	
Human Phenotype	Increased muscle lipid content	8	8.283608e-17	6.909564523e-14	3.488705	64	0.002762431	559	0.023620163833631486	1.498377	18	19	0.001516173	
Human Phenotype	Cytochrome C oxidase-negative muscle fibers	9	1.707227e-16	1.2658139745555556e-13	3.65564	59	0.002546616	602	0.03303110613621262	1.493753	17	18	0.001431941	
Human Phenotype	Increased intramyocellular lipid droplets	11	2.38204e-15	1.4450320836363637e-12	3.394475	60	0.002589779	651	0.04588090340092166	1.488584	16	17	0.001347709	
Human Phenotype	Renal Fanconi syndrome	19	6.221189e-11	2.1849470629999998e-8	3.160649	45	0.001942334	538	0.020178159732342008	1.581621	14	14	0.001179245	
Human Phenotype	Increased hepatocellular lipid droplets	25	3.897608e-10	1.04034952736e-7	3.068557	43	0.001856008	631	0.043070069491283676	1.581621	12	12	0.001010782	
Human Phenotype	Abnormality of renal resorption	29	2.367977e-9	5.44879673137931e-7	2.635297	50	0.002158149	651	0.04588090340092166	1.488584	16	17	0.001347709	
Human Phenotype	CNS hypomyelination	48	3.225866e-8	0.000004484625795416667	2.061749	71	0.003064572	495	0.01373316880808081	1.423459	27	30	0.002274259	
Human Phenotype	Abnormal mitochondria in muscle tissue	96	5.841035e-7	0.00004060127766145834	2.118727	54	0.002330801	587	0.02979634326064736	1.444088	21	23	0.001768868	
Human Phenotype	Progressive macrocephaly	100	6.41883e-7	0.000042832852589999996	2.095611	55	0.002373964	545	0.02197631946238532	1.449819	22	24	0.0018531	
Human Phenotype	Acute necrotizing encephalopathy	119	0.000002014324	0.00011295448783193278	2.0948	50	0.002158149	520	0.016820541271153844	1.50254	19	20	0.001600404	
Human Phenotype	Vertebral compression fractures	122	0.000002640569	0.00014443046669672133	2.128688	47	0.00202866	442	0.006199099241176471	1.581621	17	17	0.001431941