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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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
KATNA1_chr6_149589873_149653714	149636136	GATAATGT others(12): Show GATAATGTTTTGCTTTATAA	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	296	0.0034	-19	c.162 others(36): Show c.162+2231_162+2249delTTATAAAGCAAAACATTAT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10			chr6	TogoVar
KATNIP_chr16_27545144_27785344	27690344	AGATAGAT others(12): Show AGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01515.hp1 HG01517.hp1 others(2): Show HG01243.hp2 HG01515.hp1 HG01517.hp1 HG02818.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0001c0011 a0003c0003 a0001c0005 a0001c0011 a0003c0003	a0001c0005t0002 a0001c0011t0002 a0003c0003t0002 a0001c0005t0002 a0001c0011t0002 a0003c0003t0002	a0001c0005t0002g0148 a0001c0011t0002g0141 a0001c0011t0002g0152 others(2): Show a0001c0005t0002g0148 a0001c0011t0002g0141 a0001c0011t0002g0152 a0003c0003t0002g0126 a0003c0003t0002g0129	5	152	0.0329	-19	c.941 others(36): Show c.941-7964_941-7946delGATAGATAGATAGATAGAT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14681651	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	146	0.0069	-19	c.226 others(38): Show c.226+82430_226+82448delATATATTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681653	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03654.hp1 HG01891.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0001 a0001c0001t0023 a0002c0002t0001	a0001c0001t0023g0127 a0002c0002t0001g0079 a0001c0001t0023g0127 a0002c0002t0001g0079	2	146	0.0137	-19	c.226 others(38): Show c.226+82432_226+82450delATATTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14841405	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01167.hp1 others(22): Show HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG02055.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03654.hp1 HG03688.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18986.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0018 others(2): Show a0001c0001 a0001c0003 a0001c0018 a0002c0002 a0008c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0028 a0001c0003t0004 a0001c0018t0014 a0002c0002t0001 a0008c0011t0026	a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0130 others(22): Show a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0130 a0001c0001t0002g0144 a0001c0001t0003g0050 a0001c0001t0003g0139 a0001c0001t0004g0063 a0001c0001t0008g0142 a0001c0001t0009g0033 a0001c0001t0009g0115 a0001c0001t0010g0040 a0001c0001t0010g0131 a0001c0001t0020g0045 a0001c0001t0028g0095 a0001c0003t0004g0094 a0001c0003t0004g0125 a0001c0018t0014g0140 a0002c0002t0001g0004 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0079 a0002c0002t0001g0107 a0002c0002t0001g0124 a0002c0002t0001g0134 a0008c0011t0026g0132	25	146	0.1712	-19	c.227 others(40): Show c.227-119261_227-119243delAAAAAAAAAAAAAAAAAAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918706	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0048 a0001c0001t0010g0048	1	146	0.0069	-19	c.227 others(38): Show c.227-41976_227-41958delATATATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD12_chr3_127910232_127992666	127945164	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG01071.hp1 others(20): Show HG00408.hp1 HG00733.hp1 HG01071.hp1 HG01358.hp1 HG01884.hp1 HG02698.hp2 HG02886.hp1 HG03225.hp1 NA18943.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA19004.hp2 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19077.hp2 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026	a0001c0001t0004g0016 a0001c0001t0004g0042 a0001c0001t0004g0043 others(15): Show a0001c0001t0004g0016 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0320 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0328 a0001c0001t0008g0049 a0001c0001t0015g0317 a0001c0001t0015g0319 a0001c0001t0015g0326 a0001c0001t0024g0322 a0001c0001t0025g0318 a0001c0001t0026g0321	23	402	0.0572	-19	c.149 others(40): Show c.1492+14901_1492+14919delTTTTTTTTTTTTTTTTTTT	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCMF1_chr2_84966161_85064472	84974675	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0270 a0001c0001t0021g0270	1	274	0.0037	-19	c.16+ others(34): Show c.16+3210_16+3228delATATATATATATATATTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974677	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02717.hp1 others(2): Show HG01884.hp2 HG02622.hp1 HG02717.hp1 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0023 a0001c0001t0039 others(1): Show a0001c0001t0020 a0001c0001t0023 a0001c0001t0039 a0001c0001t0069	a0001c0001t0020g0265 a0001c0001t0020g0266 a0001c0001t0023g0267 others(2): Show a0001c0001t0020g0265 a0001c0001t0020g0266 a0001c0001t0023g0267 a0001c0001t0039g0264 a0001c0001t0069g0193	5	274	0.0183	-19	c.16+ others(34): Show c.16+3212_16+3230delATATATATATATATTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974683	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0011 a0001c0001t0028g0011	1	274	0.0037	-19	c.16+ others(34): Show c.16+3218_16+3236delATATATATTTTTTTTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84974685	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	1	274	0.0037	-19	c.16+ others(34): Show c.16+3220_16+3238delATATATTTTTTTTTTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNB1_chr20_49358877_49487668	49434253	CTAAGCAA others(12): Show CTAAGCAATTAGCATTGCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00673.hp2 others(22): Show HG00140.hp2 HG00642.hp1 HG00673.hp2 HG01978.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02155.hp2 HG02698.hp1 HG03834.hp2 NA18959.hp1 NA18969.hp2 NA18970.hp1 NA18979.hp1 NA18998.hp2 NA19002.hp1 NA19054.hp1 NA19060.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0001t0039 a0001c0001t0050 a0001c0001t0069 a0001c0001t0084 a0001c0001t0099 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131	a0001c0001t0001g0028 a0001c0001t0002g0259 a0001c0001t0003g0102 others(22): Show a0001c0001t0001g0028 a0001c0001t0002g0259 a0001c0001t0003g0102 a0001c0001t0004g0021 a0001c0001t0005g0020 a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0029 a0001c0001t0005g0084 a0001c0001t0006g0215 a0001c0001t0008g0134 a0001c0001t0014g0239 a0001c0001t0017g0005 a0001c0001t0017g0027 a0001c0001t0039g0044 a0001c0001t0039g0045 a0001c0001t0050g0022 a0001c0001t0069g0087 a0001c0001t0084g0176 a0001c0001t0099g0230 a0001c0001t0127g0086 a0001c0001t0128g0255 a0001c0001t0130g0088 a0001c0001t0131g0130	25	278	0.0899	-19	c.567 others(38): Show c.567+47642_567+47660delAGGCAATGCTAATTGCTTA	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49455356	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0070 a0001c0001t0010g0070	1	278	0.0036	-19	c.567 others(38): Show c.567+26539_567+26557delAAAAAAAAAAAAAAAAAAA	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB2_chr8_72532225_72943349	72596997	CTTGCTTT others(12): Show CTTGCTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp1 HG04204.hp2 others(2): Show HG00621.hp2 HG02056.hp1 HG04204.hp2 HG04228.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0084 a0001c0003t0001g0008 a0001c0003t0001g0010 others(2): Show a0001c0001t0002g0084 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0056	5	164	0.0305	-19	c.579 others(38): Show c.579+28687_579+28705delGCTTTTTTTTTTTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75191515	ATTATTAT others(12): Show ATTATTATTATTATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0307 a0001c0001t0006g0307	1	316	0.0032	-19	c.687 others(38): Show c.687+15763_687+15781delAAAAAAATAATAATAATAA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75201280	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18971.hp2 NA19001.hp2 HG00438.hp2 NA18971.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0027 a0001c0001t0001 a0001c0001t0022 a0001c0001t0027	a0001c0001t0001g0118 a0001c0001t0022g0001 a0001c0001t0027g0119 a0001c0001t0001g0118 a0001c0001t0022g0001 a0001c0001t0027g0119	3	316	0.0095	-19	c.687 others(36): Show c.687+5998_687+6016delGTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC3_chr19_50306937_50334377	50321022	CTGGGAAG others(12): Show CTGGGAAGGGCGACTGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01433.hp1 others(28): Show HG01081.hp2 HG01109.hp1 HG01433.hp1 HG01884.hp1 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp2 NA18747.hp1 NA18969.hp1 NA19010.hp1 NA20129.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0005 a0001c0008 others(3): Show a0001c0001 a0001c0005 a0001c0008 a0002c0003 a0006c0007 a0008c0029	a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 others(18): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0001t0033 a0001c0001t0043 a0001c0001t0053 a0001c0001t0059 a0001c0001t0095 a0001c0001t0099 a0001c0001t0104 a0001c0001t0108 a0001c0005t0009 a0001c0005t0056 a0001c0008t0033 a0001c0008t0087 a0002c0003t0005 a0002c0003t0009 a0002c0003t0022 a0006c0007t0085 a0008c0029t0055	a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0008g0035 others(22): Show a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0008g0035 a0001c0001t0008g0038 a0001c0001t0009g0034 a0001c0001t0009g0162 a0001c0001t0009g0203 a0001c0001t0022g0012 a0001c0001t0033g0268 a0001c0001t0043g0027 a0001c0001t0053g0232 a0001c0001t0059g0223 a0001c0001t0095g0258 a0001c0001t0099g0224 a0001c0001t0104g0160 a0001c0001t0108g0145 a0001c0005t0009g0205 a0001c0005t0056g0228 a0001c0008t0033g0265 a0001c0008t0087g0264 a0002c0003t0005g0233 a0002c0003t0009g0222 a0002c0003t0022g0143 a0006c0007t0085g0052 a0008c0029t0055g0229	31	380	0.0816	-19	c.197 others(36): Show c.1979-257_1979-239delACTGCAGTCGCCCTTCCCA	KCNC3	ENSG00000131398.15	transcript	ENST00000477616.2	protein_coding	2/4			chr19	TogoVar
KCND2_chr7_120268175_120755337	120701240	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	80	0.0125	-19	c.111 others(40): Show c.1116-31645_1116-31627delAAAAAAAAAAAAAAAAAAA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND2_chr7_120268175_120755337	120712241	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	80	0.0125	-19	c.111 others(40): Show c.1116-20640_1116-20622delTTTTTTTTTTTTTTTTTTT	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND3_chr1_111765662_111994668	111773408	CTTTTTTT others(12): Show CTTTTTTTTTTTCTTTTCTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG03540.hp1 HG06807.hp1 HG01192.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0017 a0001c0001t0017 a0001c0002t0017	a0001c0001t0017g0093 a0001c0001t0017g0099 a0001c0002t0017g0152 a0001c0001t0017g0093 a0001c0001t0017g0099 a0001c0002t0017g0152	3	226	0.0133	-19	c.26 others(30): Show c.2650_*2668delAAGAAAAGAAAAAAAAAAA	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	8/8	2650		chr1	TogoVar
KCNE3_chr11_74449841_74472549	74451258	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01099.hp1 HG01243.hp1 others(12): Show HG01069.hp1 HG01099.hp1 HG01243.hp1 HG01361.hp2 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03579.hp2 HG03669.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0027 a0001c0001t0034 others(5): Show a0001c0001t0017 a0001c0001t0027 a0001c0001t0034 a0001c0001t0040 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060 a0001c0001t0077	a0001c0001t0017g0042 a0001c0001t0017g0091 a0001c0001t0017g0096 others(10): Show a0001c0001t0017g0042 a0001c0001t0017g0091 a0001c0001t0017g0096 a0001c0001t0017g0217 a0001c0001t0027g0243 a0001c0001t0027g0284 a0001c0001t0034g0058 a0001c0001t0034g0060 a0001c0001t0040g0041 a0001c0001t0054g0288 a0001c0001t0055g0244 a0001c0001t0060g0061 a0001c0001t0077g0291	15	446	0.0336	-19	c.59 others(30): Show c.5975_*5993delAAAAAAAAAAAAAAAAAAA	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		3582		chr11	TogoVar
KCNG2_chr18_79792938_79905100	79882713	GGCCATGG others(12): Show GGCCATGGAGTGGCGAGGCT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0050 a0002c0002t0001g0050	1	312	0.0032	-19	c.625 others(38): Show c.625-16304_625-16286delATGGAGTGGCGAGGCTGCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNH1_chr1_210673314_211139148	210673755	CTTATTTA others(12): Show CTTATTTATTATTTATTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0030 a0001c0001t0006g0030	1	164	0.0061	-19	c.95 others(30): Show c.9507_*9525delATAAATAAATAATAAATAA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding		4558		chr1	TogoVar
KCNH1_chr1_210673314_211139148	210922383	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02559.hp2 others(3): Show HG01891.hp2 HG02145.hp1 HG02559.hp2 HG02809.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013	a0001c0001t0001g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 others(3): Show a0001c0001t0001g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0005g0005 a0001c0001t0005g0155 a0001c0001t0013g0004	6	164	0.0366	-19	c.103 others(38): Show c.1033-2333_1033-2315delTTTTTTTTTTTTTTTTTTT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	6/10			chr1	TogoVar
KCNH8_chr3_19143510_19540642	19148253	GCTCAGCG others(12): Show GCTCAGCGCCTCTCCCAGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	134	0.0075	-19	c.-46 others(28): Show c.-466_-448delCTCAGCGCCTCTCCCAGCT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding		256		chr3	TogoVar
KCNH8_chr3_19143510_19540642	19284877	AAAAAGAA others(12): Show AAAAAGAAAAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02647.hp1 others(1): Show HG02145.hp2 HG02258.hp1 HG02647.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0008 a0001c0001t0004g0013 a0001c0001t0004g0014 others(1): Show a0001c0001t0001g0008 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015	4	134	0.0299	-19	c.442 others(36): Show c.442+3578_442+3596delGAAAGAAAGAAAAGAAAAG	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP4_chr4_20723606_21953772	20803470	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 HG01433.hp2 others(20): Show HG01106.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02300.hp2 HG02615.hp2 HG02698.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03654.hp1 NA18950.hp1 NA18971.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0003t0003	a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0051 others(20): Show a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0003g0018 a0001c0001t0003g0061 a0001c0001t0004g0026 a0001c0001t0005g0027 a0001c0001t0005g0072 a0001c0001t0007g0032 a0001c0001t0008g0069 a0001c0001t0014g0077 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0003g0008 a0001c0002t0004g0028 a0001c0002t0008g0010 a0001c0003t0003g0029	23	80	0.2875	-19	c.289 others(38): Show c.289-44599_289-44581delTTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	3/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	20858211	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG01243.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0074 a0001c0001t0004g0067 a0001c0001t0002g0074 a0001c0001t0004g0067	2	80	0.0250	-19	c.164 others(36): Show c.164-7563_164-7545delTTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	2/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	20999419	TTTTTTTT others(12): Show TTTTTTTTGTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01517.hp2 HG02055.hp2 others(15): Show HG01123.hp2 HG01517.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02280.hp1 HG02300.hp2 HG02615.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG03195.hp1 HG03239.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0054 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0002g0076 a0001c0001t0003g0002 a0001c0001t0004g0025 a0001c0001t0004g0043 a0001c0001t0005g0027 a0001c0001t0005g0034 a0001c0001t0009g0004 a0001c0001t0013g0059 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0052 a0001c0002t0001g0073 a0001c0002t0002g0011 a0001c0002t0003g0008 a0001c0002t0008g0010	18	80	0.2250	-19	c.62- others(38): Show c.62-116729_62-116711delCAAAAAACAAACAAAAAAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21365518	TAAATAAA others(12): Show TAAATAAAAAATAAAGAAAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02257.hp2 others(16): Show HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp2 NA18948.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0003 a0001c0004t0004 a0001c0005t0003	a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0037 others(16): Show a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0004g0026 a0001c0001t0004g0067 a0001c0001t0005g0072 a0001c0001t0013g0059 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0003g0008 a0001c0002t0006g0053 a0001c0003t0003g0029 a0001c0004t0004g0058 a0001c0005t0003g0007	19	80	0.2375	-19	c.62- others(38): Show c.62-482828_62-482810delCTTTCTTTATTTTTTATTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21365522	TAAAAAAT others(12): Show TAAAAAATAAAGAAAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02056.hp2 others(8): Show HG01243.hp2 HG02055.hp1 HG02056.hp2 HG02300.hp1 HG02698.hp1 HG03041.hp2 HG03486.hp1 HG03516.hp1 NA18950.hp2 NA18971.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008	a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0002g0021 others(8): Show a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0003g0030 a0001c0001t0003g0079 a0001c0001t0006g0078 a0001c0001t0012g0045 a0001c0002t0001g0052 a0001c0002t0006g0019 a0001c0002t0008g0047	11	80	0.1375	-19	c.62- others(38): Show c.62-482832_62-482814delTTTTCTTTCTTTATTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21528675	CAAAGAAA others(12): Show CAAAGAAAGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	80	0.0125	-19	c.61+ others(38): Show c.61+419877_61+419895delTTTCTTTCTTTCTTTCTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21643867	TGATGATA others(12): Show TGATGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp2 HG03195.hp2 others(1): Show HG02145.hp1 HG03098.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0002t0001g0055 others(1): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0002t0001g0055 a0001c0002t0001g0065	4	80	0.0500	-19	c.61+ others(38): Show c.61+304685_61+304703delTATCTATCTATCTATCATC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21714786	ATTATTTT others(12): Show ATTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02572.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0005 a0001c0001t0001g0022	2	80	0.0250	-19	c.61+ others(38): Show c.61+233766_61+233784delATAAAATAAAATAAAATAA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21803503	AGCTCTTT others(12): Show AGCTCTTTGAAAAAAAGATC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01123.hp2 others(20): Show HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01433.hp1 HG01517.hp2 HG02109.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03540.hp2 NA18948.hp1 NA18950.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0003t0003 a0001c0005t0003	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0002g0038 a0001c0001t0002g0076 a0001c0001t0003g0002 a0001c0001t0005g0034 a0001c0001t0006g0078 a0001c0001t0007g0016 a0001c0001t0007g0032 a0001c0001t0008g0069 a0001c0001t0010g0033 a0001c0001t0014g0077 a0001c0001t0015g0023 a0001c0002t0001g0006 a0001c0002t0004g0028 a0001c0002t0006g0050 a0001c0002t0008g0010 a0001c0003t0003g0029 a0001c0005t0003g0007	23	80	0.2875	-19	c.61+ others(38): Show c.61+145049_61+145067delGATCTTTTTTTCAAAGAGC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ1_chr11_128833020_128872296	128863660	TTTCAATG others(12): Show TTTCAATGCTCTGGTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0057 a0003c0004t0001g0057	1	301	0.0033	-19	c.-19 others(38): Show c.-192+3494_-192+3512delTTAAAACCAGAGCATTGAA	KCNJ1	ENSG00000151704.16	transcript	ENST00000392666.6	protein_coding	1/2			chr11	TogoVar
KCNJ1_chr11_128833020_128872296	128864549	TTTCACAG others(12): Show TTTCACAGCAGTACTAATAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	301	0.0033	-19	c.-19 others(38): Show c.-192+2605_-192+2623delGTATTAGTACTGCTGTGAA	KCNJ1	ENSG00000151704.16	transcript	ENST00000392666.6	protein_coding	1/2			chr11	TogoVar
KCNJ3_chr2_154693695_154863354	154850008	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp1 HG02922.hp2 others(5): Show HG02559.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03195.hp1 HG03490.hp1 HG03492.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0023	a0001c0001t0003g0279 a0001c0001t0006g0001 a0001c0001t0009g0259 others(5): Show a0001c0001t0003g0279 a0001c0001t0006g0001 a0001c0001t0009g0259 a0001c0001t0009g0281 a0001c0001t0017g0001 a0001c0001t0023g0002 a0001c0001t0023g0100 a0001c0001t0023g0155	8	284	0.0282	-19	c.920 others(36): Show c.920-4701_920-4683delTTTTTTTTTTTTTTTTTTT	KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNK10_chr14_88175108_88328269	88197572	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02717.hp2 others(1): Show HG02055.hp2 HG02622.hp2 HG02717.hp2 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0107 a0001c0002t0023g0217 a0001c0002t0023g0240 others(1): Show a0001c0002t0023g0107 a0001c0002t0023g0217 a0001c0002t0023g0240 a0001c0002t0023g0278	4	334	0.0120	-19	c.682 others(36): Show c.682-5181_682-5163delTTTTTTTTTTTTTTTTTTT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6			chr14	TogoVar
KCNK15_chr20_44740865_44757313	44742958	ACTTGGCA others(12): Show ACTTGGCAGGTTAAGTATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(107): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01346.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18945.hp1 NA18947.hp1 NA18960.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp2 NA19059.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp2 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0007c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0014 a0002c0002t0001 a0003c0003t0001 a0007c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0006g0002 a0001c0001t0011g0007 a0001c0001t0014g0002 a0002c0002t0001g0001 a0003c0003t0001g0003 a0003c0003t0001g0029 a0007c0007t0001g0017	110	422	0.2607	-19	c.-29 others(30): Show c.-2952_-2934delCTTGGCAGGTTAAGTATCT	KCNK15	ENSG00000124249.7	transcript	ENST00000372861.5	protein_coding		2906		chr20	TogoVar
KCNK6_chr19_38314845_38337076	38328610	AAGGAGGA others(12): Show AAGGAGGATCGCTTGAGGCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(61): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG01081.hp1 HG01346.hp1 HG01361.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02738.hp2 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03710.hp1 HG03831.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19055.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19087.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0002 a0001c0001t0030 a0001c0001t0050 others(1): Show a0001c0001t0002 a0001c0001t0030 a0001c0001t0050 a0010c0012t0002	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0022 others(8): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0022 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0030g0003 a0001c0001t0050g0003 a0010c0012t0002g0003	64	398	0.1608	-19	c.12 others(30): Show c.1213_*1231delGATCGCTTGAGGCCAGGAG	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1213	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNMA1_chr10_76879882_77642808	77000858	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp1 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0059 a0001c0001t0009g0035 a0001c0001t0003g0059 a0001c0001t0009g0035	2	106	0.0189	-19	c.226 others(36): Show c.2266+530_2266+548delATATATATATATATATATA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	19/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77082002	CTTTTCTT others(12): Show CTTTTCTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02647.hp2 others(1): Show HG02572.hp1 HG02630.hp2 HG02647.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0003g0030	4	106	0.0377	-19	c.152 others(38): Show c.1524-2471_1524-2453delAAAAAAAAAAAAAAGAAAA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	12/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178568758	TGATAGAT others(12): Show TGATAGATAGATAGATGATA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	232	0.0043	-19	c.-68 others(38): Show c.-68+32063_-68+32081delGATAGATAGATAGATAGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178568816	TAATAGAT others(12): Show TAATAGATAGATAGATGATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG00741.hp1 others(35): Show HG00642.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01109.hp1 HG01261.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02922.hp1 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG04184.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18960.hp1 NA18968.hp1 NA18980.hp2 NA18988.hp2 NA18989.hp2 NA19003.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008 a0001c0003t0002	a0001c0001t0001g0101 a0001c0001t0002g0004 a0001c0001t0002g0008 others(35): Show a0001c0001t0001g0101 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0035 a0001c0001t0002g0096 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0228 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0100 a0001c0001t0003g0135 a0001c0001t0003g0139 a0001c0001t0003g0155 a0001c0001t0003g0211 a0001c0001t0004g0007 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0129 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0099 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0142 a0001c0002t0001g0146 a0001c0002t0001g0154 a0001c0002t0008g0018 a0001c0003t0002g0014	38	232	0.1638	-19	c.-68 others(38): Show c.-68+32106_-68+32124delAATAGATAGATAGATGATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178568835	AGATAGAT others(12): Show AGATAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG02572.hp2 others(2): Show HG00323.hp1 HG00735.hp1 HG02572.hp2 HG02630.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0087 a0001c0001t0002g0207 a0001c0001t0003g0083 others(2): Show a0001c0001t0002g0087 a0001c0001t0002g0207 a0001c0001t0003g0083 a0001c0001t0003g0205 a0001c0002t0001g0026	5	232	0.0216	-19	c.-68 others(38): Show c.-68+32144_-68+32162delGATAGATAGATAGATAGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178614770	CTGGTGAC others(12): Show CTGGTGACTTATTTAGTTCA	C C	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	232	0.0043	-19	c.-68 others(38): Show c.-68+78061_-68+78079delGGTGACTTATTTAGTTCAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758767	GGATATAT others(12): Show GGATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	232	0.0043	-19	c.-67 others(38): Show c.-67-48575_-67-48557delGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758854	TATATATC others(12): Show TATATATCTCTCCAAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	232	0.0043	-19	c.-67 others(38): Show c.-67-48482_-67-48464delCTCTCCAAGAGGGATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN1_chr19_17962107_18005085	17970289	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02165.hp1 NA18944.hp1 others(4): Show HG00423.hp1 HG02165.hp1 NA18944.hp1 NA18960.hp1 NA18993.hp1 NA18993.hp2 NA19010.hp1	a0000 a0001 a0000 a0001	a0000c0002 a0001c0001 a0000c0002 a0001c0001	a0000c0002t0002 a0001c0001t0001 a0001c0001t0002 a0000c0002t0002 a0001c0001t0001 a0001c0001t0002	a0000c0002t0002g0170 a0001c0001t0001g0107 a0001c0001t0001g0167 others(4): Show a0000c0002t0002g0170 a0001c0001t0001g0107 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0171	7	378	0.0185	-19	c.-82 others(36): Show c.-82+2999_-82+3017delTTTTTTTTTTTTTTTTTTT	KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar

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