Datasets:

Omarrran
/

human_genome_variants_hnm

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train · 116k rows

reference_name stringclasses 24 values	start_position int64 322 249M	end_position int64 322 249M	reference_bases stringclasses 4 values	alternate_bases stringclasses 4 values	variant_id stringlengths 8 19	allele_frequency float64 0 0.5	african_allele_frequency float64 0 0.74	european_allele_frequency float64 0 0.75	gene_symbol stringlengths 0 8	consequence stringclasses 14 values	impact stringclasses 5 values	impact_category stringclasses 4 values	is_rare bool 2 classes
chr1	50,840,398	50,840,398	A	G	chr1_50840398_A_G	0.039202	0.054091	0.043304	GENE1160	missense_variant	LOW	Low/Modifier Impact	false
chr1	21,938,604	21,938,604	C	G	rs550695775	0.020983	0.030322	0.020304				Unknown	false
chr16	59,780,317	59,780,317	T	C	rs209479777	0.010483	0.014014	0.010125	GENE1743	splice_donor_variant	MODERATE	Moderate Impact	false
chr18	3,107,218	3,107,218	A	G	chr18_3107218_A_G	0.021771	0.027799	0.018816	GENE784	frameshift_variant	MODIFIER	Low/Modifier Impact	false
chr3	106,820,966	106,820,966	T	A	chr3_106820966_T_A	0.029019	0.01574	0.028434	GENE1740	splice_donor_variant	MODERATE	Moderate Impact	false
chr2	229,531,628	229,531,628	C	T	rs379042627	0.000609	0.000784	0.000374	GENE1314	synonymous_variant	LOW	Low/Modifier Impact	true
chr6	109,371,988	109,371,988	A	C	rs55798728	0.04498	0.059636	0.064688	GENE741	stop_gained	LOW	Low/Modifier Impact	false
chr14	50,166,876	50,166,876	A	C	rs528791725	0.023311	0.017641	0.033348	GENE1552	start_lost	MODIFIER	Low/Modifier Impact	false
chr9	36,582,579	36,582,579	A	T	rs777136368	0.037284	0.045922	0.023687	GENE1484	missense_variant	MODIFIER	Low/Modifier Impact	false
chrY	54,258,331	54,258,331	T	G	chrY_54258331_T_G	0.015911	0.013929	0.021032	GENE1925	stop_gained	LOW	Low/Modifier Impact	false
chr15	97,044,549	97,044,549	A	C	rs868534866	0.020243	0.019216	0.010895	GENE90	missense_variant	LOW	Low/Modifier Impact	false
chr14	29,621,009	29,621,009	G	C	chr14_29621009_G_C	0.024722	0.030871	0.021872	GENE562	intron_variant	MODIFIER	Low/Modifier Impact	false
chr17	53,470,714	53,470,714	A	T	rs711326685	0.006903	0.008727	0.00751	GENE33	missense_variant	MODERATE	Moderate Impact	true
chr11	79,734,061	79,734,061	G	A	rs748422720	0.004895	0.00355	0.005874				Unknown	true
chr11	107,003,676	107,003,676	A	T	rs816673668	0.032857	0.019144	0.024178				Unknown	false
chr9	59,560,014	59,560,014	G	C	rs810673548	0.039685	0.026723	0.036242	GENE660	3_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr1	58,723,223	58,723,223	T	G	rs889724983	0.006526	0.00766	0.006506				Unknown	true
chr10	108,957,689	108,957,689	A	G	rs94341248	0.022403	0.012323	0.025919				Unknown	false
chr18	63,876,618	63,876,618	A	G	chr18_63876618_A_G	0.030785	0.02167	0.030222	GENE1167	stop_gained	MODERATE	Moderate Impact	false
chr14	83,368,802	83,368,802	T	G	chr14_83368802_T_G	0.041163	0.047746	0.061695	GENE1290	downstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr10	9,598,043	9,598,043	A	T	rs318445092	0.439974	0.357101	0.239711	GENE617	synonymous_variant	MODIFIER	Low/Modifier Impact	false
chr12	92,959,186	92,959,186	C	T	rs469414578	0.492616	0.54922	0.693405				Unknown	false
chr9	105,069,130	105,069,130	T	C	chr9_105069130_T_C	0.495083	0.581291	0.318903	GENE1578	frameshift_variant	MODIFIER	Low/Modifier Impact	false
chr5	70,451,262	70,451,262	T	G	chr5_70451262_T_G	0.015086	0.021076	0.015626	GENE588	missense_variant	MODIFIER	Low/Modifier Impact	false
chr10	23,202,718	23,202,718	T	C	chr10_23202718_T_C	0.032269	0.020807	0.030082				Unknown	false
chr10	8,316,406	8,316,406	C	T	rs8158068	0.030295	0.026414	0.041359	GENE62	5_prime_UTR_variant	LOW	Low/Modifier Impact	false
chr22	12,654,554	12,654,554	A	T	rs924740692	0.032547	0.039874	0.046723				Unknown	false
chr8	126,695,157	126,695,157	C	G	rs906799729	0.003914	0.003071	0.002626	GENE748	missense_variant	LOW	Low/Modifier Impact	true
chrY	8,633,805	8,633,805	T	C	rs702458612	0.005787	0.00616	0.00585	GENE1936	start_lost	MODERATE	Moderate Impact	true
chr11	45,320,680	45,320,680	A	T	chr11_45320680_A_T	0.003858	0.003366	0.005088	GENE1096	5_prime_UTR_variant	MODERATE	Moderate Impact	true
chr1	82,009,608	82,009,608	A	C	rs839704298	0.0205	0.010831	0.018985	GENE417	intron_variant	MODIFIER	Low/Modifier Impact	false
chr16	44,834,443	44,834,443	A	G	rs189787998	0.021078	0.030438	0.029029				Unknown	false
chr4	71,319,330	71,319,330	G	A	rs92422571	0.026995	0.03726	0.029986				Unknown	false
chr5	42,122,406	42,122,406	T	C	rs95180289	0.001588	0.001476	0.000796				Unknown	true
chr2	175,124,941	175,124,941	C	G	rs750007042	0.007047	0.004508	0.007795	GENE29	missense_variant	MODIFIER	Low/Modifier Impact	true
chr4	59,169,713	59,169,713	T	G	chr4_59169713_T_G	0.049761	0.025751	0.0433	GENE593	missense_variant	MODIFIER	Low/Modifier Impact	false
chr9	39,299,604	39,299,604	C	A	rs191049883	0.034752	0.017644	0.028466	GENE938	stop_gained	MODIFIER	Low/Modifier Impact	false
chr2	165,648,917	165,648,917	G	C	rs401288924	0.011057	0.012518	0.014451				Unknown	false
chr2	92,144,553	92,144,553	T	A	rs405380176	0.011721	0.01565	0.016603	GENE207	upstream_gene_variant	LOW	Low/Modifier Impact	false
chr22	10,565,196	10,565,196	C	A	rs205851527	0.028544	0.040963	0.040967	GENE1851	5_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr3	98,953,949	98,953,949	A	C	rs428985823	0.03709	0.034679	0.046365	GENE1673	upstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr10	100,670,915	100,670,915	C	T	chr10_100670915_C_T	0.027679	0.026902	0.039674	GENE378	downstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr8	95,087,242	95,087,242	T	A	rs163315545	0.041369	0.054361	0.053794				Unknown	false
chr9	122,141,013	122,141,013	T	C	rs168179776	0.048341	0.037161	0.069777	GENE572	frameshift_variant	MODIFIER	Low/Modifier Impact	false
chr9	99,801,246	99,801,246	A	T	chr9_99801246_A_T	0.008227	0.011335	0.006993	GENE636	missense_variant	LOW	Low/Modifier Impact	true
chr4	2,244,166	2,244,166	C	A	chr4_2244166_C_A	0.011679	0.010568	0.015864				Unknown	false
chr12	84,504,712	84,504,712	C	A	rs532650151	0.028658	0.030422	0.024119				Unknown	false
chr12	66,652,232	66,652,232	C	A	rs156987176	0.044006	0.048897	0.051569	GENE456	upstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr7	154,896,949	154,896,949	A	T	rs336456228	0.005267	0.002651	0.003581	GENE101	intron_variant	MODIFIER	Low/Modifier Impact	true
chr8	77,077,539	77,077,539	C	A	rs489932438	0.022817	0.03022	0.017507	GENE821	intron_variant	LOW	Low/Modifier Impact	false
chr6	124,543,200	124,543,200	A	T	rs270325061	0.037445	0.025724	0.04988	GENE1341	splice_acceptor_variant	LOW	Low/Modifier Impact	false
chr12	66,143,604	66,143,604	A	T	chr12_66143604_A_T	0.009271	0.005036	0.013031	GENE979	downstream_gene_variant	MODIFIER	Low/Modifier Impact	true
chr16	59,677,554	59,677,554	C	G	chr16_59677554_C_G	0.010167	0.008519	0.01125				Unknown	false
chr10	17,890,565	17,890,565	T	G	rs601289582	0.000355	0.000462	0.000392	GENE479	synonymous_variant	MODIFIER	Low/Modifier Impact	true
chr7	147,121,385	147,121,385	C	G	rs311246986	0.016453	0.008465	0.020517				Unknown	false
chr16	57,425,461	57,425,461	A	T	chr16_57425461_A_T	0.008159	0.004229	0.009105	GENE1218	stop_lost	MODERATE	Moderate Impact	true
chr2	77,425,374	77,425,374	A	T	rs500464819	0.040192	0.027845	0.035974	GENE228	splice_donor_variant	MODIFIER	Low/Modifier Impact	false
chrY	14,801,484	14,801,484	G	T	chrY_14801484_G_T	0.01751	0.023982	0.013266				Unknown	false
chr9	112,485,527	112,485,527	G	A	chr9_112485527_G_A	0.045145	0.045628	0.059015				Unknown	false
chr10	94,652,321	94,652,321	T	A	chr10_94652321_T_A	0.007446	0.0085	0.009879	GENE585	missense_variant	MODIFIER	Low/Modifier Impact	true
chr13	91,668,673	91,668,673	G	C	rs836592553	0.007344	0.010849	0.008267	GENE961	splice_donor_variant	LOW	Low/Modifier Impact	true
chr13	5,839,042	5,839,042	A	C	rs418366854	0.28521	0.176621	0.304964				Unknown	false
chr4	81,950,121	81,950,121	C	A	chr4_81950121_C_A	0.020394	0.010565	0.02872	GENE823	3_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr2	95,262,324	95,262,324	C	A	rs575960264	0.015187	0.017247	0.013352	GENE204	missense_variant	MODIFIER	Low/Modifier Impact	false
chr1	112,492,185	112,492,185	T	G	chr1_112492185_T_G	0.046069	0.041403	0.046872				Unknown	false
chr15	45,712,391	45,712,391	C	A	rs81657038	0.154106	0.183718	0.086616	GENE980	frameshift_variant	MODIFIER	Low/Modifier Impact	false
chr2	116,739,215	116,739,215	T	A	rs605033002	0.029571	0.01938	0.016972				Unknown	false
chr15	5,012,981	5,012,981	C	T	chr15_5012981_C_T	0.032289	0.021015	0.03911	GENE927	stop_gained	MODIFIER	Low/Modifier Impact	false
chr22	5,842,719	5,842,719	A	T	rs401810932	0.00476	0.0029	0.005001				Unknown	true
chr3	118,431,842	118,431,842	C	G	rs995958194	0.015562	0.011691	0.02289	GENE1868	splice_donor_variant	LOW	Low/Modifier Impact	false
chr6	39,179,490	39,179,490	T	G	rs868253145	0.02037	0.018585	0.017329				Unknown	false
chr12	90,666,615	90,666,615	C	G	chr12_90666615_C_G	0.003098	0.002065	0.002603	SNCA	3_prime_UTR_variant	LOW	Low/Modifier Impact	true
chr5	97,686,285	97,686,285	T	A	chr5_97686285_T_A	0.016821	0.024786	0.009278	GENE1480	5_prime_UTR_variant	LOW	Low/Modifier Impact	false
chr21	1,691,223	1,691,223	G	A	chr21_1691223_G_A	0.049658	0.064323	0.025624	GENE1550	splice_acceptor_variant	LOW	Low/Modifier Impact	false
chr16	64,771,468	64,771,468	C	G	rs343448063	0.030241	0.027962	0.04371				Unknown	false
chr17	11,527,786	11,527,786	T	G	rs514011974	0.040123	0.029222	0.029645	GENE1172	frameshift_variant	LOW	Low/Modifier Impact	false
chr5	127,216,381	127,216,381	C	G	chr5_127216381_C_G	0.045438	0.034783	0.043605				Unknown	false
chr13	95,760,799	95,760,799	C	T	chr13_95760799_C_T	0.049784	0.02506	0.036201	GENE427	upstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr10	24,370,474	24,370,474	C	T	rs755841150	0.018129	0.024276	0.023943	GENE396	frameshift_variant	MODERATE	Moderate Impact	false
chr5	55,671,027	55,671,027	C	A	rs531107696	0.143407	0.077149	0.083492				Unknown	false
chrX	124,162,106	124,162,106	A	G	rs699825576	0.013217	0.008293	0.016693				Unknown	false
chr6	37,602,602	37,602,602	G	A	rs44189644	0.009996	0.011396	0.006339				Unknown	true
chr14	2,147,187	2,147,187	C	G	rs599661629	0.02638	0.016353	0.032389	GENE1997	3_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr15	43,909,130	43,909,130	C	T	chr15_43909130_C_T	0.017767	0.015653	0.009727				Unknown	false
chr2	159,997,144	159,997,144	T	G	rs392313685	0.000123	0.000109	0.000172	GENE1196	5_prime_UTR_variant	MODERATE	Moderate Impact	true
chr6	36,303,913	36,303,913	G	C	rs817707501	0.1964	0.268081	0.14215				Unknown	false
chr11	53,815,529	53,815,529	T	C	rs666882335	0.046702	0.029751	0.032961				Unknown	false
chr6	141,413,118	141,413,118	C	T	rs259905299	0.011835	0.012499	0.007095	GENE1202	3_prime_UTR_variant	MODERATE	Moderate Impact	false
chr16	1,849,000	1,849,000	C	T	rs506472079	0.0325	0.041446	0.022941				Unknown	false
chr14	58,894,812	58,894,812	C	G	chr14_58894812_C_G	0.001895	0.001558	0.001718				Unknown	true
chr1	61,599,119	61,599,119	T	C	rs483676243	0.38801	0.55383	0.339679	TP53	splice_donor_variant	LOW	Low/Modifier Impact	false
chr3	109,266,850	109,266,850	T	C	rs324672877	0.01	0.01226	0.007861	GENE1146	start_lost	MODIFIER	Low/Modifier Impact	true
chr10	57,596,289	57,596,289	G	T	chr10_57596289_G_T	0.01582	0.008437	0.009287				Unknown	false
chr17	9,704,421	9,704,421	C	G	rs795587819	0.015726	0.023306	0.016786	GENE1898	3_prime_UTR_variant	LOW	Low/Modifier Impact	false
chr3	44,257,608	44,257,608	A	T	rs395972943	0.011391	0.007747	0.009149	GENE123	synonymous_variant	MODIFIER	Low/Modifier Impact	false
chr9	129,793,449	129,793,449	A	T	rs601234641	0.014532	0.018223	0.014071	GENE1556	synonymous_variant	MODIFIER	Low/Modifier Impact	false
chr3	23,685,001	23,685,001	C	G	rs7627274	0.008998	0.009312	0.005808				Unknown	true
chrY	20,328,342	20,328,342	C	A	chrY_20328342_C_A	0.008731	0.008009	0.008547				Unknown	true
chr7	56,396,887	56,396,887	C	T	rs580315496	0.009959	0.008849	0.012503	GENE1573	intron_variant	MODIFIER	Low/Modifier Impact	true
chrX	13,129,999	13,129,999	G	A	rs63233900	0.007936	0.004874	0.004843	GENE801	stop_gained	MODIFIER	Low/Modifier Impact	true

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