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 (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KASH5_chr19_49383249_49422990	49393682	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	354	0.0028	24	c.44- others(37): Show c.44-779_44-756dupGTGTGTGTGTGTGTGTGTGTGTGT	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT2B_chr3_20035446_20159404	20081878	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0005t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0004g0225 a0001c0005t0001g0209 a0001c0005t0001g0338 a0001c0001t0004g0225 a0001c0005t0001g0209 a0001c0005t0001g0338	3	374	0.0080	24	c.430 others(41): Show c.430+9431_430+9432insATATATATATATATATATATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106983	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG03225.hp1 HG01069.hp1 HG01099.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0372 a0001c0001t0002g0228 a0001c0001t0002g0254 a0001c0001t0001g0372 a0001c0001t0002g0228 a0001c0001t0002g0254	3	374	0.0080	24	c.852 others(41): Show c.852-4590_852-4589insGTATATATATATATATATATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106987	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	374	0.0027	24	c.852 others(41): Show c.852-4586_852-4585insGTATATATATATATATATATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG06807.hp2 NA18968.hp2 others(2): Show HG04204.hp2 HG06807.hp2 NA18968.hp2 NA19010.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 a0001c0001t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0005 a0001c0001t0001g0369 a0001c0002t0004g0025 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0369 a0001c0002t0004g0025 a0001c0002t0006g0346 a0001c0002t0006g0361	5	374	0.0134	24	c.230 others(43): Show c.2305+1010_2305+1033dupAAAAAAAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	374	0.0027	24	c.230 others(43): Show c.2305+1019_2305+1020insGAAAAAAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0099 a0009c0015t0099	a0009c0015t0099g0142 a0009c0015t0099g0142	1	374	0.0027	24	c.-26 others(35): Show c.-2688_-2687insATATATATATATATATTTTTTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0128 a0001c0004t0012g0128	1	374	0.0027	24	c.-26 others(35): Show c.-2688_-2687insATATATATATATATATATATTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6B_chr10_74821600_75037624	74981306	T T	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02622.hp1 HG02895.hp2 others(2): Show HG01074.hp1 HG02622.hp1 HG02895.hp2 HG03579.hp2 NA18983.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 others(2): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0205 a0004c0004t0002g0019	5	236	0.0212	24	c.223 others(41): Show c.2232-469_2232-446dupCCTTCCTTCCTTCCTTCCTTCCTT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT8_chr16_31112664_31136359	31117369	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG01258.hp2 others(3): Show HG00673.hp1 HG01256.hp1 HG01258.hp2 HG02630.hp1 NA18747.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0031 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0067	6	290	0.0207	24	c.-31 others(33): Show c.-313_-312insAAATAAATAAATAAATAAATAAAT	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding		294		chr16	TogoVar
KAT8_chr16_31112664_31136359	31117398	A A	AAATAAAT others(17): Show AAATAAATAAATAAATAAATAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	290	0.0035	24	c.-28 others(33): Show c.-284_-283insAATAAATAAATAAATAAATAAATT	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding		265		chr16	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19087.hp1 NA18980.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0252 a0001c0001t0001g0064 a0001c0001t0001g0252	2	296	0.0068	24	c.502 others(41): Show c.502-8421_502-8398dupTTTTTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149617939	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0022 a0001c0001t0001g0024	2	296	0.0068	24	c.501 others(41): Show c.501+5140_501+5163dupATTTATTTATTTATTTATTTATTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNB1_chr16_57730770_57762244	57733799	A A	AAATTTTC others(17): Show AAATTTTCTTAGCAGTGGTGATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	402	0.0025	24	c.-23 others(35): Show c.-2323_-2322insAATTTTCTTAGCAGTGGTGATAAC	KATNB1	ENSG00000140854.13	transcript	ENST00000379661.8	protein_coding		1970		chr16	TogoVar
KATNBL1_chr15_34135674_34215096	34181582	A A	ACATATAT others(17): Show ACATATATATACACATATATATGTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG03098.hp1 others(3): Show HG02572.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 NA18978.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(3): Show a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0002g0244	6	344	0.0174	24	c.-14 others(43): Show c.-14-17916_-14-17893dupGACATATATATGTGTATATATATG	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34181856	C C	CATATATA others(17): Show CATATATATATCCATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0206 a0001c0001t0007g0206	1	344	0.0029	24	c.-14 others(43): Show c.-14-18167_-14-18166insATATATATATATGGATATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34181858	T T	TATATATA others(17): Show TATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18612.hp1 NA18947.hp2 others(2): Show HG03704.hp2 NA18612.hp1 NA18947.hp2 NA18980.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 others(2): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0019	5	344	0.0145	24	c.-14 others(43): Show c.-14-18169_-14-18168insGGATATATATATATGGATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34191154	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01346.hp2 NA18981.hp2 HG01071.hp1 HG01346.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0330 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0330	3	344	0.0087	24	c.-15 others(43): Show c.-15+18773_-15+18796dupATATATATATATATATATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34195693	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	344	0.0029	24	c.-15 others(43): Show c.-15+14257_-15+14258insGTTTTTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNIP_chr16_27545144_27785344	27661995	T T	TATATATA others(17): Show TATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp2 HG02155.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0089 a0001c0001t0001g0007 a0001c0001t0001g0089	2	152	0.0132	24	c.540 others(43): Show c.540+13277_540+13278insCACATACATATATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27661997	T T	TATATATA others(17): Show TATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0060 a0001c0023t0001g0060	1	152	0.0066	24	c.540 others(43): Show c.540+13279_540+13280insCACATACATATATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27690363	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATGATAGATA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	152	0.0066	24	c.941 others(41): Show c.941-7965_941-7964insAGATAGATAGATAGATGATAGATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	8/27			chr16	TogoVar
KAZN_chr1_14593685_15123043	14779559	A A	AATACTAA others(17): Show AATACTAAACAAATGAGATGTAGGT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02976.hp2 HG01071.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	146	0.0137	24	c.226 others(45): Show c.226+180337_226+180360dupATACTAAACAAATGAGATGTAGGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883318	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	146	0.0069	24	c.227 others(43): Show c.227-77364_227-77341dupGAGAGAGAGAGAGAGAGAGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883339	A A	AGAGGGAG others(17): Show AGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	146	0.0069	24	c.227 others(43): Show c.227-77342_227-77341insGGAGGGAGGGAGGGAGGGAGGGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0045	1	146	0.0069	24	c.227 others(43): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAAAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AAAAGAAA others(17): Show AAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp1 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0138 a0001c0001t0003g0088 a0001c0001t0003g0138	2	146	0.0137	24	c.227 others(43): Show c.227-77281_227-77258dupGAAAGAAAGAAAGAAAGAAAGAAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14921153	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0118 a0001c0001t0011g0118	1	146	0.0069	24	c.227 others(43): Show c.227-39519_227-39496dupCACACACACACACACACACACACA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	146	0.0069	24	c.154 others(41): Show c.1548-356_1548-355insCTCTCTCTCTCTCTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD2_chr7_32863172_32896760	32891878	G G	GCCGCCCC others(17): Show GCCGCCCCCGCCGCCCCCGCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG01517.hp2 others(6): Show HG01358.hp1 HG01515.hp1 HG01517.hp2 HG02083.hp2 HG02683.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0147 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0147 a0001c0001t0001g0164 a0001c0001t0001g0169	9	434	0.0207	24	c.-68 others(33): Show c.-682_-681insGGGCGGCGGGGGCGGCGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		119		chr7	TogoVar
KBTBD3_chr11_106046098_106082347	106064543	C C	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03225.hp2 HG03453.hp2 others(1): Show HG01109.hp1 HG03225.hp2 HG03453.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015	a0001c0001t0008g0153 a0001c0001t0014g0152 a0001c0001t0014g0208 others(1): Show a0001c0001t0008g0153 a0001c0001t0014g0152 a0001c0001t0014g0208 a0001c0001t0015g0094	4	366	0.0109	24	c.-12 others(41): Show c.-12-5435_-12-5434insTTTATTTATTTATTTATTTATTTA	KBTBD3	ENSG00000182359.15	transcript	ENST00000531837.2	protein_coding	2/3			chr11	TogoVar
KCMF1_chr2_84966161_85064472	85008291	T T	TATATAAT others(17): Show TATATAATATATAATATGATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02015.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0002g0065 a0001c0001t0001g0148 a0001c0001t0002g0065	2	274	0.0073	24	c.17- others(41): Show c.17-19593_17-19592insATATATAATATGATATATAATATA	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	85060007	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0265 a0001c0001t0020g0265	1	274	0.0037	24	c.65 others(35): Show c.6598_*6599insTGTGTGTGTGTGTGTGTGTGTGTG	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding		536		chr2	TogoVar
KCNAB1_chr3_156115578_156543605	156139584	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	124	0.0081	24	c.275 others(43): Show c.275+18701_275+18724dupTTTTTTTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156147959	A A	ACACACAC others(17): Show ACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp1 HG02965.hp1 others(1): Show HG02735.hp2 HG02738.hp1 HG02965.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0009t0002 a0001c0001t0001 a0001c0001t0004 a0001c0009t0002	a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0004g0116 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0004g0116 a0001c0009t0002g0005	4	124	0.0323	24	c.275 others(43): Show c.275+27074_275+27075insACACACACACACACACACACACGC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156387014	C C	CTCTTTTT others(17): Show CTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	124	0.0081	24	c.276 others(43): Show c.276-34601_276-34600insCTTTTTTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156428533	A A	ACACACAC others(17): Show ACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0035 a0002c0006t0003g0035	1	124	0.0081	24	c.319 others(41): Show c.319+6875_319+6876insACACACACACACACACACACACCC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB2_chr8_72532225_72943349	72725529	A A	ATGTGTAT others(17): Show ATGTGTATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02004.hp2 HG02486.hp2 others(3): Show HG01167.hp1 HG02004.hp2 HG02486.hp2 HG02647.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0012 a0001c0002 a0001c0004 a0001c0012	a0001c0002t0004 a0001c0004t0001 a0001c0012t0007 a0001c0002t0004 a0001c0004t0001 a0001c0012t0007	a0001c0002t0004g0044 a0001c0004t0001g0031 a0001c0004t0001g0032 others(3): Show a0001c0002t0004g0044 a0001c0004t0001g0031 a0001c0004t0001g0032 a0001c0004t0001g0034 a0001c0004t0001g0036 a0001c0012t0007g0033	6	164	0.0366	24	c.579 others(45): Show c.579+157217_579+157218insGTGTATATATATATGTATATATGT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC1_chr11_17729781_17788057	17734263	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(36): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG01070.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01981.hp2 HG02040.hp2 HG02145.hp1 HG02155.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp2 NA18968.hp1 NA18980.hp1 NA19005.hp2 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0002t0001 a0001c0004t0003 a0001c0005t0006 a0002c0009t0002	a0001c0001t0001g0121 a0001c0001t0001g0155 a0001c0001t0001g0156 others(36): Show a0001c0001t0001g0121 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0002g0064 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0003g0148 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0004g0018 a0001c0001t0004g0023 a0001c0001t0004g0028 a0001c0001t0005g0079 a0001c0001t0006g0127 a0001c0001t0006g0129 a0001c0001t0006g0137 a0001c0001t0008g0020 a0001c0001t0008g0022 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0010g0131 a0001c0001t0021g0162 a0001c0001t0027g0306 a0001c0001t0028g0307 a0001c0001t0030g0096 a0001c0001t0033g0101 a0001c0002t0001g0109 a0001c0004t0003g0108 a0001c0005t0006g0134 a0002c0009t0002g0098	39	332	0.1175	24	c.-17 others(35): Show c.-1740_-1739insGTGTGTGTGTGTGTGTGTGTGTGT	KCNC1	ENSG00000129159.9	transcript	ENST00000265969.8	protein_coding		517		chr11	TogoVar
KCNC2_chr12_75035078_75214839	75075458	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0247 a0001c0001t0033g0247	1	316	0.0032	24	c.688 others(43): Show c.688-24165_688-24142dupATATATATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75084290	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATGATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03098.hp2 HG03130.hp1 HG02896.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0011 a0001c0001t0001 a0001c0004t0011	a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0004t0011g0006 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0004t0011g0006	3	316	0.0095	24	c.688 others(43): Show c.688-32974_688-32973insTATCATCTATCTATCTATCTATCT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18954.hp2 NA18959.hp2 others(2): Show HG01175.hp1 NA18954.hp2 NA18959.hp2 NA19078.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0230 a0001c0001t0002g0078 a0001c0001t0002g0143 others(2): Show a0001c0001t0001g0230 a0001c0001t0002g0078 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0151	5	316	0.0158	24	c.687 others(43): Show c.687+68294_687+68317dupTTTTTTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75177057	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19043.hp1 HG03041.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0088 a0001c0001t0007g0089 a0001c0001t0001g0088 a0001c0001t0007g0089	2	316	0.0063	24	c.687 others(43): Show c.687+30239_687+30240insGTATATATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCND1_chrX_48956380_48976844	48957715	T T	TCGGCGGC others(17): Show TCGGCGGCGGAGGAGGCGGCGGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	306	0.0033	24	c.48 others(35): Show c.4842_*4865dupCCGCCGCCGCCTCCTCCGCCGCCG	KCND1	ENSG00000102057.10	transcript	ENST00000218176.4	protein_coding		3664		chrX	TogoVar
KCND3_chr1_111765662_111994668	111965438	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA20300.hp2 NA20752.hp2 NA18612.hp1 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0030 a0001c0001t0002 a0001c0001t0006 a0001c0001t0030	a0001c0001t0002g0031 a0001c0001t0006g0035 a0001c0001t0030g0141 a0001c0001t0002g0031 a0001c0001t0006g0035 a0001c0001t0030g0141	3	226	0.0133	24	c.110 others(45): Show c.1106+16159_1106+16182dupTGTGTGTGTGTGTGTGTGTGTGTG	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar
KCND3_chr1_111765662_111994668	111965438	C C	CCCCACAC others(17): Show CCCCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	226	0.0044	24	c.110 others(45): Show c.1106+16182_1106+16183insTGTGTGTGTGTGTGTGTGTGTGGG	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG01496.hp2 HG02698.hp1 others(4): Show HG00423.hp2 HG01496.hp2 HG02698.hp1 NA18956.hp1 NA18985.hp1 NA19063.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0048 a0001c0001t0015 a0001c0001t0048	a0001c0001t0015g0038 a0001c0001t0015g0157 a0001c0001t0015g0164 others(3): Show a0001c0001t0015g0038 a0001c0001t0015g0157 a0001c0001t0015g0164 a0001c0001t0015g0200 a0001c0001t0015g0203 a0001c0001t0048g0169	7	446	0.0157	24	c.10 others(35): Show c.1073_*1096dupATATATATATATATATATATATAT	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNE3_chr11_74449841_74472549	74468691	T T	TCTTCCTT others(17): Show TCTTCCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03540.hp1 HG02602.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0044 a0001c0001t0034 a0001c0001t0044	a0001c0001t0034g0060 a0001c0001t0044g0287 a0001c0001t0034g0060 a0001c0001t0044g0287	2	446	0.0045	24	c.-14 others(35): Show c.-1484_-1483insGAAGGAAGGAAGGAAGGAAGGAAG	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		1143		chr11	TogoVar
KCNE3_chr11_74449841_74472549	74468691	T T	TCTTTCTT others(17): Show TCTTTCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA19000.hp1 NA18990.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	2	446	0.0045	24	c.-14 others(35): Show c.-1484_-1483insGAAGGAAGGAAGGAAGGAAGAAAG	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		1143		chr11	TogoVar
KCNF1_chr2_10906934_10919225	10918126	A A	ATCTCTCT others(17): Show ATCTCTCTAGGGTGCCATCATCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0000 a0001c0008t0001g0000	1	436	0.0023	24	c.42 others(35): Show c.4215_*4216insTCTCTCTAGGGTGCCATCATCTGC	KCNF1	ENSG00000162975.5	transcript	ENST00000295082.3	protein_coding		3902		chr2	TogoVar

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