Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
INTS11_chr1_1306600_1329660	1321073	G G	A A	stop_gained stop_gained	HIGH	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0122 a0002c0014t0001g0122	1	354	0.0028	0	c.49C others(2): Show c.49C>T	p.Arg others(3): Show p.Arg17*	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	2/17	101/2114	49/1803	17/600		chr1	TogoVar
INVS_chr9_100094243_100307175	100240112	C C	CCAACAAA others(990): Show CCAACAAAGATCAAAAAAGACAAAGAAGGGAATTCCTTAAAGGTAAAAGG ATCAATATAACAAGAAGAGCGAACTATCCTAAATATATATGCACCCAATA CAGGAGCACCCAGATTCATAAAGCAAGTTCTTTGAGACCTACAAAGAGAC TTACACTCCCACACAATAATAGTGGGATACTTTAACACCCCACTGTCAAT ATTAGATGGATCAACACAACAGAAAATTAAGAAGGATATTCAGGACTTGA ACTCAGCTATGGATCAAGTGGACCTAATAAACATCTACAGAACTCTCCAC CCCAAATCAACAGAATATATATTCTTCTCAGTACCACATAGAACTTACTC TAAAATTGACCACGTAATTGGAAGTAAAACCTCCTCAGCAAATGTAAAAG AATGGAAATCATAACAGACAGTCTCTTAGACCACAGTGCAATCAAATTAG AACTCAGGATTAAGAAACTCACTCAAAACCGCACAACTACATGGAAACTG AACAACCTGCTCCTGAATGACTACTGAGCAAATAATGAAATAAAAGCAGA AATAAATAAGTTCTTTGAAACCAATGAGAACAAAGACACAACGTACCAGA ATCTGCGGGACACAGCTAAAGCAGTGGTTAGAGGGAAATTTACAGCACTA AATGCCCACAGGACAAAGTAGGAAAGATCTAAAATTGACACCCTAACATC ACAATTAAAACAAGTAGAGAATCAAGAGCAAACAAATTAAAAACCTAACA GAAGACAAGAGATAACTAAGATCAGAGCAGTACTGAAGGAGACAGAAACA TGAGAAATCCTTCAAAAAAATCAGTGAATCCAGGAGCTGGTTTTTTGAAA AGACTAACAAAATAGACCACTAGCCAGACTAATAAAGAAGAAAACAGAGA ATTAAATAGACACAATAAAAAATGATATAGGGGATATCACCACTGACCCC ACAGAAATACAAACTACCATCAGAGAATACTATAAACACTTCCATGCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0104 a0007c0011t0002g0104	1	182	0.0055	997	c.668 others(1004): Show c.668_669insCAACAAAGATCAAAAAAGACAAAGAAGGGAATTCCTTA AAGGTAAAAGGATCAATATAACAAGAAGAGCGAACTATCCTAAATATATA TGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTTCTTTGAGACC TACAAAGAGACTTACACTCCCACACAATAATAGTGGGATACTTTAACACC CCACTGTCAATATTAGATGGATCAACACAACAGAAAATTAAGAAGGATAT TCAGGACTTGAACTCAGCTATGGATCAAGTGGACCTAATAAACATCTACA GAACTCTCCACCCCAAATCAACAGAATATATATTCTTCTCAGTACCACAT AGAACTTACTCTAAAATTGACCACGTAATTGGAAGTAAAACCTCCTCAGC AAATGTAAAAGAATGGAAATCATAACAGACAGTCTCTTAGACCACAGTGC AATCAAATTAGAACTCAGGATTAAGAAACTCACTCAAAACCGCACAACTA CATGGAAACTGAACAACCTGCTCCTGAATGACTACTGAGCAAATAATGAA ATAAAAGCAGAAATAAATAAGTTCTTTGAAACCAATGAGAACAAAGACAC AACGTACCAGAATCTGCGGGACACAGCTAAAGCAGTGGTTAGAGGGAAAT TTACAGCACTAAATGCCCACAGGACAAAGTAGGAAAGATCTAAAATTGAC ACCCTAACATCACAATTAAAACAAGTAGAGAATCAAGAGCAAACAAATTA AAAACCTAACAGAAGACAAGAGATAACTAAGATCAGAGCAGTACTGAAGG AGACAGAAACATGAGAAATCCTTCAAAAAAATCAGTGAATCCAGGAGCTG GTTTTTTGAAAAGACTAACAAAATAGACCACTAGCCAGACTAATAAAGAA GAAAACAGAGAATTAAATAGACACAATAAAAAATGATATAGGGGATATCA CCACTGACCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACAC TTCCATGCA	p.Pro others(5): Show p.Pro224fs	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	6/17	867/4897	669/3198	223/1065		chr9	TogoVar
IPO9_chr1_201824157_201889291	201876028	C C	T T	stop_gained stop_gained	HIGH	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0207 a0004c0008t0001g0207	1	396	0.0025	0	c.310 others(4): Show c.3100C>T	p.Arg others(5): Show p.Arg1034*	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	24/24	3153/11416	3100/3126	1034/1041		chr1	TogoVar
IQCA1L_chr7_151185873_151210496	151204745	C C	CTACCTGC others(4): Show CTACCTGCACTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0001 a0030c0050t0001	a0030c0050t0001g0068 a0030c0050t0001g0068	1	448	0.0022	11	c.102 others(18): Show c.102_103insTAGTGCAGGTA	p.Glu others(4): Show p.Glu35fs	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	2/19	144/2606	102/2457	34/818		chr7	TogoVar
IQCA1L_chr7_151185873_151210496	151204778	C C	A A	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0001 a0030c0050t0001	a0030c0050t0001g0068 a0030c0050t0001g0068	1	448	0.0022	0	c.70G others(2): Show c.70G>T	p.Glu others(3): Show p.Glu24*	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	2/19	112/2606	70/2457	24/818		chr7	TogoVar
IQCA1L_chr7_151185873_151210496	151204830	G G	C C	stop_gained stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0001 a0030c0050t0001	a0030c0050t0001g0068 a0030c0050t0001g0068	1	448	0.0022	0	c.18C others(2): Show c.18C>G	p.Tyr others(2): Show p.Tyr6*	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	2/19	60/2606	18/2457	6/818		chr7	TogoVar
IQCF2_chr3_51856615_51868424	51863227	C C	T T	stop_gained stop_gained	HIGH	HG04199.hp2 HG04199.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0001 a0005c0006t0001g0001	1	426	0.0024	0	c.352 others(3): Show c.352C>T	p.Arg others(4): Show p.Arg118*	IQCF2	ENSG00000184345.5	transcript	ENST00000333127.4	protein_coding	3/3	404/601	352/495	118/164		chr3	TogoVar
IQCF6_chr3_51773563_51784237	51778787	G G	A A	stop_gained stop_gained	HIGH	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0008 a0006c0007t0001g0008	1	418	0.0024	0	c.277 others(3): Show c.277C>T	p.Arg others(3): Show p.Arg93*	IQCF6	ENSG00000214686.7	transcript	ENST00000667863.2	protein_coding	2/2	290/514	277/441	93/146		chr3	TogoVar
IQCM_chr4_149346709_149820843	149352043	G G	A A	stop_gained stop_gained	HIGH	NA18978.hp2 NA18985.hp2 NA18978.hp2 NA18985.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0048 a0005c0007t0001g0212 a0005c0007t0001g0048 a0005c0007t0001g0212	2	252	0.0079	0	c.141 others(4): Show c.1414C>T	p.Arg others(4): Show p.Arg472*	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	14/14	1744/2078	1414/1506	472/501		chr4	TogoVar
IQCM_chr4_149346709_149820843	149553215	G G	A A	stop_gained stop_gained	HIGH	HG02647.hp2 HG03453.hp2 NA19240.hp2 HG02647.hp2 HG03453.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0231 a0004c0006t0001g0008 a0004c0006t0001g0097 a0004c0006t0001g0231	3	252	0.0119	0	c.102 others(4): Show c.1021C>T	p.Arg others(4): Show p.Arg341*	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	11/14	1351/2078	1021/1506	341/501		chr4	TogoVar
IRX6_chr16_55319203_55335756	55327620	C C	T T	stop_gained stop_gained	HIGH	NA18939.hp1 NA18939.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0002 a0012c0017t0002	a0012c0017t0002g0061 a0012c0017t0002g0061	1	448	0.0022	0	c.448 others(3): Show c.448C>T	p.Arg others(4): Show p.Arg150*	IRX6	ENSG00000159387.8	transcript	ENST00000290552.8	protein_coding	4/6	1337/2681	448/1341	150/446		chr16	TogoVar
ISCU_chr12_108557596_108574368	108565411	G G	T T	stop_gained stop_gained	HIGH	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0026 a0005c0009t0003g0026	1	446	0.0022	0	c.319 others(3): Show c.319G>T	p.Glu others(4): Show p.Glu107*	ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding	3/5	346/983	319/504	107/167		chr12	TogoVar
ISCU_chr12_108557596_108574368	108565415	G G	A A	stop_gained stop_gained	HIGH	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0026 a0005c0009t0003g0026	1	446	0.0022	0	c.323 others(3): Show c.323G>A	p.Trp others(4): Show p.Trp108*	ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding	3/5	350/983	323/504	108/167		chr12	TogoVar
ISCU_chr12_108557596_108574368	108565420	A A	T T	stop_gained stop_gained	HIGH	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0026 a0005c0009t0003g0026	1	446	0.0022	0	c.328 others(3): Show c.328A>T	p.Lys others(4): Show p.Lys110*	ISCU	ENSG00000136003.16	transcript	ENST00000311893.14	protein_coding	3/5	355/983	328/504	110/167		chr12	TogoVar
ITGA8_chr10_15508954_15724922	15606407	G G	A A	stop_gained stop_gained	HIGH	HG03492.hp2 HG03492.hp2	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0006 a0015c0028t0006	a0015c0028t0006g0017 a0015c0028t0006g0017	1	220	0.0046	0	c.178 others(4): Show c.1780C>T	p.Arg others(4): Show p.Arg594*	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	18/30	1931/6547	1780/3192	594/1063		chr10	TogoVar
ITGA8_chr10_15508954_15724922	15719706	G G	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0001 a0018c0018t0001	a0018c0018t0001g0054 a0018c0018t0001g0054	1	220	0.0046	0	c.66C others(2): Show c.66C>A	p.Cys others(3): Show p.Cys22*	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	1/30	217/6547	66/3192	22/1063		chr10	TogoVar
ITGB3BP_chr1_63435770_63528225	63454386	C C	A A	stop_gained stop_gained	HIGH	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0247 a0003c0006t0001g0247	1	374	0.0027	0	c.421 others(3): Show c.421G>T	p.Glu others(4): Show p.Glu141*	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	6/9	513/961	421/534	141/177		chr1	TogoVar
ITGB6_chr2_160094671_160205272	160138187	C C	A A	stop_gained stop_gained	HIGH	HG01261.hp2 HG01261.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0303 a0005c0016t0001g0303	1	358	0.0028	0	c.112 others(4): Show c.1120G>T	p.Glu others(4): Show p.Glu374*	ITGB6	ENSG00000115221.12	transcript	ENST00000283249.7	protein_coding	9/15	1329/4641	1120/2367	374/788		chr2	TogoVar
ITIH1_chr3_52772599_52797062	52788273	G G	T T	stop_gained stop_gained	HIGH	HG02922.hp1 HG02922.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0137 a0008c0023t0001g0137	1	406	0.0025	0	c.204 others(4): Show c.2047G>T	p.Glu others(4): Show p.Glu683*	ITIH1	ENSG00000055957.11	transcript	ENST00000273283.7	protein_coding	18/22	2064/2904	2047/2736	683/911		chr3	TogoVar
ITIH2_chr10_7698316_7754520	7732476	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA18984.hp1 NA18984.hp1	a0010 a0010	a0010c0021 a0010c0021	a0010c0021t0001 a0010c0021t0001	a0010c0021t0001g0309 a0010c0021t0001g0309	1	380	0.0026	0	c.178 others(4): Show c.1786C>T	p.Arg others(4): Show p.Arg596*	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	14/21	1905/3146	1786/2841	596/946		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7579903	G G	A A	stop_gained stop_gained	HIGH	HG02257.hp2 HG02257.hp2	a0021 a0021	a0021c0059 a0021c0059	a0021c0059t0003 a0021c0059t0003	a0021c0059t0003g0214 a0021c0059t0003g0214	1	342	0.0029	0	c.127 others(4): Show c.1270C>T	p.Arg others(4): Show p.Arg424*	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	9/14	1344/6716	1270/2829	424/942		chr10	TogoVar
ITIH6_chrX_54743918_54803255	54788607	T T	TCAGG TCAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03704.hp2 NA18985.hp2 HG03704.hp2 NA18985.hp2	a0006 a0006	a0006c0009 a0006c0010 a0006c0009 a0006c0010	a0006c0009t0002 a0006c0010t0002 a0006c0009t0002 a0006c0010t0002	a0006c0009t0002g0181 a0006c0010t0002g0062 a0006c0009t0002g0181 a0006c0010t0002g0062	2	296	0.0068	4	c.658 others(11): Show c.658_659insCCTG	p.Glu others(5): Show p.Glu220fs	ITIH6	ENSG00000102313.9	transcript	ENST00000218436.7	protein_coding	5/13	703/4964	658/3942	220/1313		chrX	TogoVar
ITPRID1_chr7_31509090_31661504	31574712	C C	T T	stop_gained stop_gained	HIGH	NA19009.hp1 NA19009.hp1	a0022 a0022	a0022c0036 a0022c0036	a0022c0036t0001 a0022c0036t0001	a0022c0036t0001g0213 a0022c0036t0001g0213	1	312	0.0032	0	c.568 others(3): Show c.568C>T	p.Arg others(4): Show p.Arg190*	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	8/15	696/6938	568/3135	190/1044		chr7	TogoVar
JADE2_chr5_134520670_134588227	134578727	C C	T T	stop_gained stop_gained	HIGH	NA18969.hp1 NA18969.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0099 a0005c0012t0001g0099	1	388	0.0026	0	c.191 others(4): Show c.1915C>T	p.Arg others(4): Show p.Arg639*	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	12/12	2257/6757	1915/2505	639/834		chr5	TogoVar
KANK1_chr9_499695_751103	732434	C C	G G	stop_gained stop_gained	HIGH	HG01433.hp1 HG01433.hp1	a0028 a0028	a0028c0056 a0028c0056	a0028c0056t0003 a0028c0056t0003	a0028c0056t0003g0035 a0028c0056t0003g0035	1	254	0.0039	0	c.306 others(4): Show c.3062C>G	p.Ser others(5): Show p.Ser1021*	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	6/12	3205/5070	3062/4059	1021/1352		chr9	TogoVar
KANK4_chr1_62231165_62324434	62274449	G G	A A	stop_gained stop_gained	HIGH	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0003 a0012c0032t0003	a0012c0032t0003g0249 a0012c0032t0003g0251 a0012c0032t0003g0249 a0012c0032t0003g0251	2	322	0.0062	0	c.655 others(3): Show c.655C>T	p.Arg others(4): Show p.Arg219*	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	3/10	1054/5499	655/2988	219/995		chr1	TogoVar
KCNA10_chr1_110512217_110524175	110518401	A A	T T	stop_gained stop_gained	HIGH	NA18973.hp2 NA18973.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0000 a0012c0012t0001g0000	1	448	0.0022	0	c.387 others(3): Show c.387T>A	p.Tyr others(4): Show p.Tyr129*	KCNA10	ENSG00000143105.7	transcript	ENST00000369771.4	protein_coding	1/1	775/1959	387/1536	129/511		chr1	TogoVar
KCNE5_chrX_109618700_109630172	109624744	C C	A A	stop_gained stop_gained	HIGH	HG00408.hp1 HG00408.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	295	0.0034	0	c.277 others(3): Show c.277G>T	p.Glu others(3): Show p.Glu93*	KCNE5	ENSG00000176076.7	transcript	ENST00000372101.3	protein_coding	1/1	429/1473	277/429	93/142		chrX	TogoVar
KCNV1_chr8_109958636_109980771	109974275	C C	CCCGAGCG others(39): Show CCCGAGCGCCAAGGGCTCCCCTTCACCCTCGCTGCAGAAGACACTAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0035 a0002c0004t0002g0035	1	372	0.0027	46	c.68_ others(52): Show c.68_113dupCTAGTGTCTTCTGCAGCGAGGGTGAAGGGGAGCCCTTGG CGCTCGG	p.Asp others(4): Show p.Asp39fs	KCNV1	ENSG00000164794.9	transcript	ENST00000524391.6	protein_coding	2/4	1070/6912	113/1503	38/500		chr8	TogoVar
KCP_chr7_128871865_128915709	128877190	G G	T T	stop_gained stop_gained	HIGH	NA18964.hp2 NA18964.hp2	a0038 a0038	a0038c0041 a0038c0041	a0038c0041t0002 a0038c0041t0002	a0038c0041t0002g0074 a0038c0041t0002g0074	1	372	0.0027	0	c.474 others(4): Show c.4740C>A	p.Cys others(5): Show p.Cys1580*	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	40/40	4773/5098	4740/4887	1580/1628		chr7	TogoVar
KDM4E_chr11_95020258_95032596	95026941	C C	T T	stop_gained stop_gained	HIGH	NA19240.hp1 NA19240.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0000 a0014c0019t0001g0000	1	462	0.0022	0	c.138 others(4): Show c.1384C>T	p.Arg others(4): Show p.Arg462*	KDM4E	ENSG00000235268.2	transcript	ENST00000450979.2	protein_coding	1/1	1684/2339	1384/1521	462/506		chr11	TogoVar
KDM4F_chr11_95044422_95056338	95050082	G G	T T	stop_gained stop_gained	HIGH	HG00544.hp1 HG01192.hp1 NA18963.hp2 others(11): Show HG00544.hp1 HG01192.hp1 NA18963.hp2 NA18967.hp2 NA18981.hp2 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA19004.hp2 NA19062.hp2 NA19065.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	14	440	0.0318	0	c.661 others(3): Show c.661G>T	p.Glu others(4): Show p.Glu221*	KDM4F	ENSG00000255855.4	transcript	ENST00000711328.1	protein_coding	1/1	661/1917	661/1917	221/638		chr11	TogoVar
KDM4F_chr11_95044422_95056338	95050665	G G	A A	stop_gained stop_gained	HIGH	HG02896.hp2 HG02896.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0000 a0017c0016t0000	a0017c0016t0000g0000 a0017c0016t0000g0000	1	440	0.0023	0	c.124 others(4): Show c.1244G>A	p.Trp others(4): Show p.Trp415*	KDM4F	ENSG00000255855.4	transcript	ENST00000711328.1	protein_coding	1/1	1244/1917	1244/1917	415/638		chr11	TogoVar
KDM4F_chr11_95044422_95056338	95050702	T T	A A	stop_gained stop_gained	HIGH	HG02896.hp2 HG02896.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0000 a0017c0016t0000	a0017c0016t0000g0000 a0017c0016t0000g0000	1	440	0.0023	0	c.128 others(4): Show c.1281T>A	p.Cys others(4): Show p.Cys427*	KDM4F	ENSG00000255855.4	transcript	ENST00000711328.1	protein_coding	1/1	1281/1917	1281/1917	427/638		chr11	TogoVar
KDM4F_chr11_95044422_95056338	95051251	C C	G G	stop_gained stop_gained	HIGH	HG01192.hp2 HG01192.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0000 a0014c0021t0000	a0014c0021t0000g0000 a0014c0021t0000g0000	1	440	0.0023	0	c.183 others(4): Show c.1830C>G	p.Tyr others(4): Show p.Tyr610*	KDM4F	ENSG00000255855.4	transcript	ENST00000711328.1	protein_coding	1/1	1830/1917	1830/1917	610/638		chr11	TogoVar
KEAP1_chr19_10481125_10508356	10491624	A A	T T	stop_gained stop_gained	HIGH	NA18994.hp2 NA18994.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0109 a0003c0010t0006g0109	1	392	0.0026	0	c.127 others(4): Show c.1278T>A	p.Tyr others(4): Show p.Tyr426*	KEAP1	ENSG00000079999.14	transcript	ENST00000171111.10	protein_coding	3/6	1441/2565	1278/1875	426/624		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6417821	A A	AGAATGCC others(17): Show AGAATGCCTGGGCACTGGCACCTAG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0010 a0002c0012t0010	a0002c0012t0010g0112 a0002c0012t0010g0112	1	386	0.0026	24	c.998 others(31): Show c.998_999insCTAGGTGCCAGTGCCCAGGCATTC	p.Ser others(37): Show p.Ser333_Val334insTerValProValProArgHisSer	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding	11/19	1108/4276	998/2244	333/747		chr19	TogoVar
KIAA0753_chr17_6573147_6645711	6624802	C C	A A	stop_gained stop_gained	HIGH	NA19070.hp1 NA19070.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0001 a0009c0025t0001	a0009c0025t0001g0328 a0009c0025t0001g0328	1	370	0.0027	0	c.778 others(3): Show c.778G>T	p.Glu others(4): Show p.Glu260*	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	4/19	921/4647	778/2904	260/967		chr17	TogoVar
KIAA1755_chr20_38205503_38265735	38213437	G G	A A	stop_gained stop_gained	HIGH	HG01884.hp1 HG02717.hp1 HG01884.hp1 HG02717.hp1	a0023 a0027 a0023 a0027	a0023c0035 a0027c0049 a0023c0035 a0027c0049	a0023c0035t0017 a0027c0049t0010 a0023c0035t0017 a0027c0049t0010	a0023c0035t0017g0286 a0027c0049t0010g0065 a0023c0035t0017g0286 a0027c0049t0010g0065	2	358	0.0056	0	c.320 others(4): Show c.3208C>T	p.Arg others(5): Show p.Arg1070*	KIAA1755	ENSG00000149633.12	transcript	ENST00000279024.9	protein_coding	14/14	3443/6377	3208/3603	1070/1200		chr20	TogoVar
KIF17_chr1_20659014_20723007	20704474	G G	A A	stop_gained stop_gained	HIGH	NA18981.hp2 NA18981.hp2	a0018 a0018	a0018c0110 a0018c0110	a0018c0110t0001 a0018c0110t0001	a0018c0110t0001g0104 a0018c0110t0001g0104	1	414	0.0024	0	c.109 others(4): Show c.1096C>T	p.Gln others(4): Show p.Gln366*	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	5/15	1397/3958	1096/3087	366/1028		chr1	TogoVar
KIF19_chr17_74321226_74360820	74355235	C C	T T	stop_gained stop_gained	HIGH	NA18970.hp2 NA18970.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0001 a0023c0041t0001	a0023c0041t0001g0178 a0023c0041t0001g0178	1	412	0.0024	0	c.292 others(4): Show c.2920C>T	p.Arg others(4): Show p.Arg974*	KIF19	ENSG00000196169.15	transcript	ENST00000389916.5	protein_coding	20/20	3044/3629	2920/2997	974/998		chr17	TogoVar
KIF25_chr6_167992671_168050091	168029510	C C	CTGACATG others(69): Show CTGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCCTGG GTCTGGAGCCGTCCTGGCCTTCCCAGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0003 a0001c0006 others(20): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0019 a0001c0022 a0002c0002 a0002c0015 a0003c0004 a0004c0005 a0005c0007 a0005c0024 a0006c0008 a0008c0011 a0009c0012 a0010c0013 a0012c0014 a0013c0016 a0014c0017 a0015c0025 a0016c0023 a0017c0020 a0018c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0026 a0001c0003t0029 a0001c0003t0037 a0001c0003t0051 a0001c0006t0002 a0001c0006t0005 a0001c0006t0019 a0001c0010t0023 a0001c0019t0018 a0001c0022t0010 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0002t0030 a0002c0002t0040 a0002c0002t0046 a0002c0002t0052 a0002c0002t0053 a0002c0015t0003 a0003c0004t0001 a0003c0004t0005 a0003c0004t0010 a0003c0004t0021 a0003c0004t0044 a0003c0004t0047 a0004c0005t0004 a0004c0005t0015 a0005c0007t0010 a0005c0007t0020 a0005c0024t0002 a0006c0008t0016 a0008c0011t0001 a0008c0011t0005 a0009c0012t0001 a0009c0012t0010 a0010c0013t0016 a0010c0013t0018 a0012c0014t0010 a0013c0016t0003 a0014c0017t0002 a0015c0025t0001 a0016c0023t0005 a0017c0020t0001 a0018c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0328 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0157 a0001c0001t0006g0158 a0001c0001t0006g0161 a0001c0001t0008g0274 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0001t0008g0286 a0001c0001t0009g0051 a0001c0001t0009g0058 a0001c0001t0009g0109 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0010g0256 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0156 a0001c0001t0012g0159 a0001c0001t0012g0160 a0001c0001t0013g0236 a0001c0001t0018g0272 a0001c0001t0021g0034 a0001c0001t0021g0105 a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0032g0294 a0001c0001t0038g0362 a0001c0001t0039g0147 a0001c0001t0041g0206 a0001c0001t0042g0260 a0001c0003t0004g0016 a0001c0003t0004g0032 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0129 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0009g0063 a0001c0003t0011g0041 a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0026g0182 a0001c0003t0026g0233 a0001c0003t0029g0333 a0001c0003t0029g0354 a0001c0003t0037g0180 a0001c0003t0051g0092 a0001c0006t0002g0262 a0001c0006t0005g0355 a0001c0006t0005g0356 a0001c0006t0019g0139 a0001c0006t0019g0140 a0001c0006t0019g0141 a0001c0010t0023g0329 a0001c0010t0023g0353 a0001c0019t0018g0271 a0001c0022t0010g0257 a0002c0002t0001g0231 a0002c0002t0001g0239 a0002c0002t0003g0010 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0073 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0086 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0102 a0002c0002t0003g0104 a0002c0002t0003g0134 a0002c0002t0003g0137 a0002c0002t0003g0162 a0002c0002t0003g0319 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0005g0341 a0002c0002t0005g0351 a0002c0002t0005g0352 a0002c0002t0011g0066 a0002c0002t0011g0124 a0002c0002t0011g0125 a0002c0002t0013g0237 a0002c0002t0013g0247 a0002c0002t0013g0248 a0002c0002t0013g0249 a0002c0002t0022g0100 a0002c0002t0022g0101 a0002c0002t0030g0080 a0002c0002t0030g0083 a0002c0002t0040g0082 a0002c0002t0046g0338 a0002c0002t0052g0035 a0002c0002t0053g0030 a0002c0015t0003g0135 a0003c0004t0001g0183 a0003c0004t0001g0197 a0003c0004t0001g0218 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0005g0009 a0003c0004t0005g0017 a0003c0004t0005g0330 a0003c0004t0005g0331 a0003c0004t0005g0332 a0003c0004t0005g0335 a0003c0004t0005g0336 a0003c0004t0005g0337 a0003c0004t0005g0339 a0003c0004t0005g0340 a0003c0004t0005g0342 a0003c0004t0005g0343 a0003c0004t0005g0345 a0003c0004t0005g0346 a0003c0004t0005g0347 a0003c0004t0005g0348 a0003c0004t0005g0349 a0003c0004t0005g0350 a0003c0004t0005g0357 a0003c0004t0005g0359 a0003c0004t0005g0360 a0003c0004t0010g0018 a0003c0004t0021g0103 a0003c0004t0044g0334 a0003c0004t0047g0358 a0004c0005t0004g0001 a0004c0005t0004g0121 a0004c0005t0004g0122 a0004c0005t0004g0123 a0004c0005t0004g0138 a0004c0005t0015g0163 a0004c0005t0015g0164 a0005c0007t0010g0019 a0005c0007t0020g0024 a0005c0007t0020g0025 a0005c0007t0020g0027 a0005c0024t0002g0261 a0006c0008t0016g0167 a0006c0008t0016g0169 a0006c0008t0016g0170 a0008c0011t0001g0185 a0008c0011t0005g0363 a0009c0012t0001g0250 a0009c0012t0010g0258 a0010c0013t0016g0168 a0010c0013t0018g0273 a0012c0014t0010g0255 a0013c0016t0003g0093 a0014c0017t0002g0315 a0015c0025t0001g0229 a0016c0023t0005g0344 a0017c0020t0001g0240 a0018c0021t0001g0200	335	375	0.8933	76	c.7_8 others(80): Show c.7_82dupTGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCC TGGGTCTGGAGCCGTCCTGGCCTTCCCAGATGACA	p.Lys others(4): Show p.Lys28fs	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1881/3048	83/1155	28/384	INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168029510	C C	CTGACATG others(145): Show CTGACATGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGGCCTGG GTCTGGAGCCGTCCTGGCCTTCCCAGATGACATGGACCTCAGGTCAGCTT CAGCGTGAGAAGCAGGCCAGGCCTGGGTCTGGAGCCGTCCTGGCCTTCCC AGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0361 a0001c0001t0045g0361	1	375	0.0027	152	c.-70 others(158): Show c.-70_82dupTGGACCTCAGGTCAGCTTCAGCGTGAGAAGCAGGCCAGG CCTGGGTCTGGAGCCGTCCTGGCCTTCCCAGATGACATGGACCTCAGGTC AGCTTCAGCGTGAGAAGCAGGCCAGGCCTGGGTCTGGAGCCGTCCTGGCC TTCCCAGATGACA	p.Lys others(4): Show p.Lys28fs	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1881/3048	83/1155	28/384	INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168029570	G G	GTCCTGGC others(69): Show GTCCTGGCCTTCCCAGATGACATGGACCTCAGGTCAGCTTCAGCGTGAGA AGCAGGCCAGGCCTGGGTCTGGAGCCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0036 a0001c0018t0036	a0001c0018t0036g0184 a0001c0018t0036g0184	1	375	0.0027	76	c.60_ others(81): Show c.60_61insATCCTGGCCTTCCCAGATGACATGGACCTCAGGTCAGCTT CAGCGTGAGAAGCAGGCCAGGCCTGGGTCTGGAGCC	p.Val others(4): Show p.Val21fs	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	6/13	1859/3048	61/1155	21/384	INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF2B_chr17_53817927_53830193	53824641	T T	G G	stop_gained stop_gained	HIGH	HG02717.hp2 HG02717.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0000 a0010c0015t0001g0000	1	430	0.0023	0	c.160 others(4): Show c.1608T>G	p.Tyr others(4): Show p.Tyr536*	KIF2B	ENSG00000141200.8	transcript	ENST00000268919.6	protein_coding	1/1	1715/2267	1608/2022	536/673		chr17	TogoVar
KIF4B_chr5_155008755_155023141	155014264	T T	TCTGAAAG others(19): Show TCTGAAAGTGTCTTACTTAGAGATTTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03225.hp1 HG03225.hp1	a0011 a0011	a0011c0030 a0011c0030	a0011c0030t0001 a0011c0030t0001	a0011c0030t0001g0000 a0011c0030t0001g0000	1	420	0.0024	26	c.407 others(33): Show c.407_432dupTGAAAGTGTCTTACTTAGAGATTTAC	p.Asn others(5): Show p.Asn145fs	KIF4B	ENSG00000226650.6	transcript	ENST00000435029.6	protein_coding	1/1	538/4387	433/3705	145/1234	INFO_REALIGN_3_PRIME	chr5	TogoVar
KIF6_chr6_39324990_39730408	39357301	C C	T T	stop_gained stop_gained	HIGH	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0004 a0009c0012t0004	a0009c0012t0004g0039 a0009c0012t0004g0039	1	174	0.0058	0	c.215 others(4): Show c.2156G>A	p.Trp others(4): Show p.Trp719*	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	19/23	2254/9085	2156/2445	719/814		chr6	TogoVar
KIFC2_chr8_144461337_144479202	144473189	C C	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0002 a0015c0019t0001g0002	1	402	0.0025	0	c.217 others(4): Show c.2176C>T	p.Arg others(4): Show p.Arg726*	KIFC2	ENSG00000167702.13	transcript	ENST00000645548.2	protein_coding	18/18	2259/3272	2176/2376	726/791		chr8	TogoVar
KIR2DL3_chr19_54733513_54758052	54752406	C C	T T	stop_gained stop_gained	HIGH	NA19003.hp1 NA19003.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0010 a0011c0015t0010	a0011c0015t0010g0054 a0011c0015t0010g0054	1	312	0.0032	0	c.913 others(3): Show c.913C>T	p.Gln others(4): Show p.Gln305*	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding	8/8	946/1592	913/1026	305/341		chr19	TogoVar
KIR3DL1_chr19_54811468_54835778	54819784	C C	T T	stop_gained stop_gained	HIGH	NA19010.hp2 NA19010.hp2	a0017 a0017	a0017c0034 a0017c0034	a0017c0034t0001 a0017c0034t0001	a0017c0034t0001g0009 a0017c0034t0001g0009	1	395	0.0025	0	c.427 others(3): Show c.427C>T	p.Gln others(4): Show p.Gln143*	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	4/9	460/1871	427/1335	143/444		chr19	TogoVar

Search by Variant

Search

Search Results (Total: 3004 hits)