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	44,007,939	44,007,939	A	C	chr1_44007939_A_C	0.005935	0.006215	0.00304				Unknown	true
chr6	118,248,303	118,248,303	T	A	rs679579	0.004339	0.004935	0.00628	GENE382	intron_variant	MODIFIER	Low/Modifier Impact	true
chr7	6,129,603	6,129,603	C	T	chr7_6129603_C_T	0.035776	0.041591	0.044743				Unknown	false
chr21	29,340,119	29,340,119	G	C	rs238974941	0.036619	0.01853	0.0254	GENE778	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	false
chr9	116,003,909	116,003,909	A	T	rs177806834	0.021248	0.018104	0.016862	GENE1748	stop_gained	MODIFIER	Low/Modifier Impact	false
chr1	101,409,248	101,409,248	T	C	rs187892175	0.036029	0.05341	0.02814				Unknown	false
chr2	25,207,831	25,207,831	A	T	chr2_25207831_A_T	0.026993	0.028542	0.032472				Unknown	false
chr17	32,171,531	32,171,531	G	A	chr17_32171531_G_A	0.03047	0.020494	0.015724				Unknown	false
chr22	47,147,847	47,147,847	C	A	rs156650171	0.036074	0.05407	0.046275	FMR1	intron_variant	LOW	Low/Modifier Impact	false
chr12	2,185,152	2,185,152	A	C	rs918420612	0.024128	0.03202	0.030166				Unknown	false
chr1	88,464,485	88,464,485	A	T	chr1_88464485_A_T	0.013812	0.017939	0.02003				Unknown	false
chr12	88,726,622	88,726,622	G	A	rs881470772	0.031894	0.034147	0.015979				Unknown	false
chr12	79,183,788	79,183,788	C	A	rs896230812	0.098066	0.072515	0.143208	GENE216	splice_donor_variant	HIGH	High Impact	false
chr22	4,791,708	4,791,708	T	A	rs984326619	0.029671	0.039755	0.022643	GENE1190	stop_lost	MODIFIER	Low/Modifier Impact	false
chr12	10,990,698	10,990,698	A	G	chr12_10990698_A_G	0.047111	0.051664	0.052787				Unknown	false
chr4	81,350,696	81,350,696	A	T	rs404096858	0.001041	0.001152	0.001507	GENE1345	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	true
chr6	150,124,220	150,124,220	G	C	chr6_150124220_G_C	0.001396	0.00126	0.001737	GENE167	stop_lost	LOW	Low/Modifier Impact	true
chr5	38,921,914	38,921,914	A	T	rs131315661	0.357478	0.429905	0.443308	GENE175	downstream_gene_variant	MODIFIER	Low/Modifier Impact	false
chr6	135,465,986	135,465,986	A	G	rs158467722	0.040772	0.056338	0.053048	GENE1010	upstream_gene_variant	MODERATE	Moderate Impact	false
chr12	18,727,892	18,727,892	A	G	rs908633982	0.002882	0.002863	0.00161				Unknown	true
chr10	115,616,708	115,616,708	T	C	rs464397252	0.483362	0.295807	0.307845	GENE476	intron_variant	LOW	Low/Modifier Impact	false
chr4	95,069,455	95,069,455	A	C	rs125147659	0.041721	0.027497	0.056915				Unknown	false
chr2	98,699,790	98,699,790	G	A	chr2_98699790_G_A	0.0114	0.010918	0.007568	GENE691	stop_lost	MODIFIER	Low/Modifier Impact	false
chr12	39,311,931	39,311,931	C	G	chr12_39311931_C_G	0.002975	0.001744	0.002753	GENE1346	downstream_gene_variant	LOW	Low/Modifier Impact	true
chr2	117,545,490	117,545,490	G	C	rs5775855	0.113173	0.139591	0.111499	GENE1487	synonymous_variant	LOW	Low/Modifier Impact	false
chr3	154,229,630	154,229,630	T	C	rs602473092	0.045916	0.045604	0.04007	GENE814	5_prime_UTR_variant	LOW	Low/Modifier Impact	false
chr14	63,797,890	63,797,890	A	C	rs298887047	0.023542	0.030088	0.013893				Unknown	false
chr6	146,705,826	146,705,826	C	G	chr6_146705826_C_G	0.035472	0.044884	0.023512				Unknown	false
chrY	38,829,312	38,829,312	T	G	rs378306908	0.00905	0.008579	0.007246	GENE1770	missense_variant	MODERATE	Moderate Impact	true
chr4	115,860,285	115,860,285	A	T	chr4_115860285_A_T	0.004035	0.005119	0.005641	GENE436	upstream_gene_variant	MODERATE	Moderate Impact	true
chr8	51,675,500	51,675,500	C	G	rs778077796	0.038451	0.034307	0.050585				Unknown	false
chr15	45,708,895	45,708,895	A	C	chr15_45708895_A_C	0.192211	0.268026	0.099139	GENE1281	splice_acceptor_variant	LOW	Low/Modifier Impact	false
chr19	28,679,738	28,679,738	T	G	chr19_28679738_T_G	0.232649	0.216053	0.341161	GENE1684	5_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr6	115,616,821	115,616,821	G	A	rs244638338	0.015497	0.014652	0.012071	GENE475	stop_gained	MODIFIER	Low/Modifier Impact	false
chr13	39,961,271	39,961,271	T	G	chr13_39961271_T_G	0.049086	0.029254	0.044314	GENE916	intron_variant	LOW	Low/Modifier Impact	false
chr10	39,054,257	39,054,257	C	G	rs424306500	0.017536	0.024916	0.015681				Unknown	false
chr5	161,503,741	161,503,741	G	T	rs408125739	0.045936	0.056355	0.067839	GENE946	splice_acceptor_variant	MODIFIER	Low/Modifier Impact	false
chr5	5,720,032	5,720,032	G	T	chr5_5720032_G_T	0.039758	0.041346	0.021215				Unknown	false
chr1	162,271,252	162,271,252	G	C	chr1_162271252_G_C	0.020311	0.028215	0.017413	GENE607	start_lost	LOW	Low/Modifier Impact	false
chr14	38,455,668	38,455,668	C	T	rs367048608	0.031317	0.017864	0.01823	GENE1995	frameshift_variant	LOW	Low/Modifier Impact	false
chr6	105,486,163	105,486,163	T	A	rs890763365	0.023537	0.026046	0.019125	GENE384	stop_lost	LOW	Low/Modifier Impact	false
chr12	110,303,427	110,303,427	A	C	rs48139683	0.014379	0.019455	0.013287	GENE1024	splice_donor_variant	MODIFIER	Low/Modifier Impact	false
chr4	94,887,999	94,887,999	T	A	rs513374084	0.052502	0.03593	0.065662	GENE1849	intron_variant	LOW	Low/Modifier Impact	false
chrX	17,122,096	17,122,096	C	G	chrX_17122096_C_G	0.009544	0.00977	0.009213				Unknown	true
chr5	172,404,835	172,404,835	C	G	chr5_172404835_C_G	0.001004	0.001481	0.000858	GENE1262	intron_variant	LOW	Low/Modifier Impact	true
chr9	86,659,427	86,659,427	C	G	rs617416868	0.038969	0.044196	0.035666				Unknown	false
chr19	19,638,217	19,638,217	G	A	chr19_19638217_G_A	0.000582	0.000798	0.000626				Unknown	true
chr15	40,021,405	40,021,405	G	T	chr15_40021405_G_T	0.039435	0.024947	0.056606	GENE1589	downstream_gene_variant	LOW	Low/Modifier Impact	false
chr8	87,438,723	87,438,723	C	T	chr8_87438723_C_T	0.003665	0.001959	0.003513	GENE1647	frameshift_variant	MODERATE	Moderate Impact	true
chr7	53,156,201	53,156,201	G	T	rs359187071	0.035607	0.044696	0.040103	GENE482	splice_acceptor_variant	MODERATE	Moderate Impact	false
chr5	3,202,473	3,202,473	C	G	rs562214973	0.041542	0.042433	0.042075	GENE381	splice_donor_variant	MODERATE	Moderate Impact	false
chr12	48,936,762	48,936,762	C	G	rs194878852	0.018712	0.022944	0.016624	GENE57	splice_acceptor_variant	MODERATE	Moderate Impact	false
chr20	519,244	519,244	C	A	rs10689501	0.036936	0.042047	0.052288	GENE941	synonymous_variant	MODERATE	Moderate Impact	false
chr1	30,921,510	30,921,510	T	C	rs880922373	0.007647	0.009637	0.006382	GENE1696	5_prime_UTR_variant	LOW	Low/Modifier Impact	true
chrX	86,054,626	86,054,626	T	A	rs283403054	0.074672	0.060863	0.108391	DMD	stop_lost	MODIFIER	Low/Modifier Impact	false
chr2	131,946,308	131,946,308	C	T	rs431958761	0.008189	0.008611	0.009918	GENE655	splice_donor_variant	MODERATE	Moderate Impact	true
chr14	19,042,247	19,042,247	C	G	rs772367739	0.026569	0.030109	0.01357				Unknown	false
chr3	118,183,805	118,183,805	C	T	rs658979001	0.007798	0.010134	0.004754	GENE396	frameshift_variant	MODERATE	Moderate Impact	true
chr2	138,395,108	138,395,108	T	C	chr2_138395108_T_C	0.012496	0.008868	0.015203	GENE1144	splice_donor_variant	LOW	Low/Modifier Impact	false
chr11	14,159,808	14,159,808	T	G	rs948160031	0.440446	0.430481	0.419384	GENE313	synonymous_variant	LOW	Low/Modifier Impact	false
chr18	24,781,568	24,781,568	G	A	rs239812233	0.008716	0.008388	0.011552	GENE1374	splice_acceptor_variant	MODERATE	Moderate Impact	true
chrY	45,366,302	45,366,302	G	T	chrY_45366302_G_T	0.012307	0.008495	0.015909				Unknown	false
chr20	47,448,318	47,448,318	C	T	rs743352838	0.014593	0.015075	0.011199	GENE40	5_prime_UTR_variant	MODIFIER	Low/Modifier Impact	false
chr12	125,666,179	125,666,179	C	A	chr12_125666179_C_A	0.006925	0.007621	0.004834				Unknown	true
chr4	32,963,295	32,963,295	A	T	rs327614318	0.034015	0.021808	0.034247	GENE153	5_prime_UTR_variant	LOW	Low/Modifier Impact	false
chr15	41,458,656	41,458,656	A	G	rs838493762	0.019391	0.026556	0.010449	GENE1688	frameshift_variant	MODIFIER	Low/Modifier Impact	false
chr2	126,594,507	126,594,507	G	C	rs344479548	0.02435	0.028411	0.017579	GENE509	frameshift_variant	MODERATE	Moderate Impact	false
chr10	26,990,790	26,990,790	A	C	rs931860993	0.029993	0.027412	0.043431	GENE943	upstream_gene_variant	MODERATE	Moderate Impact	false
chr15	50,965,683	50,965,683	A	C	rs494887284	0.017874	0.0153	0.015412				Unknown	false

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