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
KCNK2_chr1_215077737_215242090	215209520	A A	ATATTATA others(6): Show ATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02717.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0060 a0001c0001t0059 a0001c0002t0060	a0001c0001t0059g0147 a0001c0002t0060g0173 a0001c0001t0059g0147 a0001c0002t0060g0173	2	260	0.0077	13	c.963 others(32): Show c.963+14428_963+14429insTATTATATATAAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6			chr1	TogoVar
KCNK2_chr1_215077737_215242090	215223241	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0149 a0001c0002t0043g0149	1	260	0.0039	13	c.964 others(32): Show c.964-11578_964-11566dupAAAAAAAAAAAAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK3_chr2_26687722_26738420	26725694	C C	CAGGTCCC others(6): Show CAGGTCCCTAGCAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0031 a0001c0001t0021g0031	1	336	0.0030	13	c.284 others(30): Show c.284-1971_284-1959dupGGTCCCTAGCAAA	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNMA1_chr10_76879882_77642808	77009380	C C	CCAAATCC others(6): Show CCAAATCCTTATTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	106	0.0094	13	c.209 others(32): Show c.2092+2574_2092+2586dupAAATAAGGATTTG	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	18/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77134997	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp2 HG02970.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0080 a0001c0003t0003g0082 a0001c0003t0001g0080 a0001c0003t0003g0082	2	106	0.0189	13	c.809 others(32): Show c.809-13962_809-13950dupTTTTTTTTTTTTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	5/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77295787	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	106	0.0094	13	c.541 others(32): Show c.541-44544_541-44532dupTTTTTTTTTTTTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77439149	A A	AGAGAAGA others(6): Show AGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	106	0.0094	13	c.379 others(32): Show c.379-35127_379-35126insCTCTTCTCTTCTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572604	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	106	0.0094	13	c.378 others(32): Show c.378+64660_378+64661insATATATATATATA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170390513	A A	AAATATAT others(6): Show AAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0159 a0003c0003t0011g0159	1	432	0.0023	13	c.-12 others(24): Show c.-1280_-1279insATATATATATATT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1147		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAATAT others(6): Show AAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0068 a0001c0001t0078g0068	1	432	0.0023	13	c.-12 others(24): Show c.-1284_-1283insATATATATATTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01069.hp1 HG01071.hp2 others(7): Show HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG03654.hp1 HG03669.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0003 a0003c0003t0011 a0005c0005t0003 a0003c0003t0003 a0003c0003t0011 a0005c0005t0003	a0003c0003t0003g0010 a0003c0003t0003g0014 a0003c0003t0003g0162 others(2): Show a0003c0003t0003g0010 a0003c0003t0003g0014 a0003c0003t0003g0162 a0003c0003t0011g0161 a0005c0005t0003g0157	10	432	0.0232	13	c.-12 others(24): Show c.-1284_-1283insATATATATATATA	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178586540	T T	TTTTTTTT others(6): Show TTTTTTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0199 a0001c0002t0006g0199	1	232	0.0043	13	c.-68 others(32): Show c.-68+49836_-68+49837insCTTTCCTTTTTTT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178691107	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	232	0.0043	13	c.-67 others(34): Show c.-67-116228_-67-116216dupTTTTTTTTTTTTT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757794	C C	CCAAGAGG others(6): Show CCAAGAGGATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp2 HG03942.hp2 HG01952.hp2 HG02027.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0069 a0001c0001t0003g0024 a0001c0001t0003g0028 a0001c0001t0003g0069	3	232	0.0129	13	c.-67 others(32): Show c.-67-49549_-67-49548insCAAGAGGATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TATATATC others(6): Show TATATATCTCCGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0215 a0001c0001t0003g0216	2	232	0.0086	13	c.-67 others(32): Show c.-67-48551_-67-48550insCTCCGAGATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758843	G G	GATATATA others(6): Show GATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	232	0.0043	13	c.-67 others(32): Show c.-67-48500_-67-48499insATATATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758872	G G	GAGATATA others(6): Show GAGATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	232	0.0043	13	c.-67 others(32): Show c.-67-48471_-67-48470insAGATATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758873	G G	GGATATAT others(6): Show GGATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	232	0.0043	13	c.-67 others(32): Show c.-67-48470_-67-48469insGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758931	G G	GGATATAT others(6): Show GGATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18906.hp1 HG02630.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0209 a0001c0001t0002g0220	2	232	0.0086	13	c.-67 others(32): Show c.-67-48412_-67-48411insGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758980	T T	TCTCTCCA others(6): Show TCTCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03225.hp1 HG01255.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0002g0094 a0001c0001t0002g0118	2	232	0.0086	13	c.-67 others(32): Show c.-67-48363_-67-48362insCTCTCCAAGAGGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759088	G G	GTGATTGA others(6): Show GTGATTGATGTATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	232	0.0043	13	c.-67 others(32): Show c.-67-48255_-67-48254insTGATTGATGTATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759089	G G	GGATATAT others(6): Show GGATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG01358.hp1 others(7): Show HG00735.hp2 HG01346.hp1 HG01358.hp1 HG01952.hp1 HG01975.hp2 HG02300.hp2 HG03710.hp1 NA18612.hp2 NA18953.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0126 a0001c0001t0004g0007 a0001c0001t0004g0078 others(7): Show a0001c0001t0003g0126 a0001c0001t0004g0007 a0001c0001t0004g0078 a0001c0001t0004g0181 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0112 a0001c0002t0001g0124 a0001c0002t0001g0184 a0001c0002t0001g0196	10	232	0.0431	13	c.-67 others(32): Show c.-67-48254_-67-48253insGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759113	G G	GTGATTGA others(6): Show GTGATTGATGTATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18941.hp2 HG01943.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0058 a0001c0002t0001g0079 a0001c0001t0003g0058 a0001c0002t0001g0079	2	232	0.0086	13	c.-67 others(32): Show c.-67-48230_-67-48229insTGATTGATGTATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759114	G G	GGATATAT others(6): Show GGATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19003.hp1 NA19010.hp2 HG03017.hp1 NA19003.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0127 a0001c0002t0001g0072 a0001c0002t0001g0121 a0001c0001t0003g0127 a0001c0002t0001g0072 a0001c0002t0001g0121	3	232	0.0129	13	c.-67 others(32): Show c.-67-48229_-67-48228insGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759212	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	232	0.0043	13	c.-67 others(32): Show c.-67-48131_-67-48130insTATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNQ1_chr11_2440008_2854105	2496495	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00741.hp1 others(18): Show HG00408.hp2 HG00597.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp2 HG01261.hp1 HG01361.hp1 HG01891.hp1 HG01993.hp2 HG02083.hp1 HG02486.hp2 HG02717.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp2 HG03704.hp2 HG06807.hp2 NA18983.hp1 NA19091.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0010 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0003c0010t0001 a0005c0008t0002	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 others(18): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0134 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0088 a0001c0001t0002g0170 a0001c0001t0003g0174 a0001c0001t0007g0159 a0001c0001t0008g0107 a0001c0002t0001g0102 a0001c0002t0001g0176 a0001c0002t0002g0013 a0001c0002t0002g0158 a0001c0003t0001g0081 a0001c0003t0001g0082 a0003c0010t0001g0009 a0005c0008t0002g0064	21	208	0.1010	13	c.387 others(32): Show c.387-31420_387-31408dupTTTTTTTTTTTTT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2610716	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA19007.hp2 HG01243.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0001 a0001c0001t0002 a0001c0014t0001	a0001c0001t0002g0113 a0001c0014t0001g0047 a0001c0001t0002g0113 a0001c0014t0001g0047	2	208	0.0096	13	c.139 others(34): Show c.1393+21879_1393+21891dupTTTTTTTTTTTTT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733857	C C	CACTCTTT others(6): Show CACTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01070.hp1 HG01261.hp1 others(3): Show HG00597.hp1 HG01070.hp1 HG01261.hp1 HG02572.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0138 a0001c0002t0001g0028 a0001c0002t0001g0060 others(3): Show a0001c0001t0001g0138 a0001c0002t0001g0028 a0001c0002t0001g0060 a0001c0002t0001g0097 a0001c0002t0002g0158 a0001c0003t0001g0082	6	208	0.0289	13	c.151 others(34): Show c.1515-34987_1515-34986insACTCTTTCTCTCT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15			chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733857	C C	CGCTCTTT others(6): Show CGCTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02109.hp2 HG02615.hp2 others(3): Show HG00642.hp1 HG02109.hp2 HG02615.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0004c0009 a0001c0001 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0003c0006t0004 a0004c0009t0002	a0001c0001t0001g0044 a0001c0001t0002g0129 a0001c0001t0004g0143 others(3): Show a0001c0001t0001g0044 a0001c0001t0002g0129 a0001c0001t0004g0143 a0001c0001t0013g0207 a0003c0006t0004g0011 a0004c0009t0002g0206	6	208	0.0289	13	c.151 others(34): Show c.1515-34987_1515-34986insGCTCTTTCTCTCT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15			chr11	TogoVar
KCNQ3_chr8_132115861_132486095	132180839	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03239.hp1 HG01934.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0094 a0001c0003t0075 a0001c0003t0094	a0001c0003t0075g0070 a0001c0003t0094g0143 a0001c0003t0075g0070 a0001c0003t0094g0143	2	176	0.0114	13	c.605 others(28): Show c.605-511_605-510insGTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	3/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132224081	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0109 a0001c0001t0084g0109	1	176	0.0057	13	c.387 others(32): Show c.387-37913_387-37901dupAAAAAAAAAAAAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0024 a0001c0001t0021 a0001c0001t0024	a0001c0001t0021g0055 a0001c0001t0024g0077 a0001c0001t0021g0055 a0001c0001t0024g0077	2	176	0.0114	13	c.386 others(32): Show c.386+77118_386+77130dupTTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNRG_chr13_50010444_50025922	50012100	T T	TGTCCTAC others(6): Show TGTCCTACATGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	448	0.0022	13	c.-33 others(24): Show c.-3394_-3393insGTCCTACATGCCG	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		3343		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50014344	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	13	c.-11 others(24): Show c.-1150_-1149insAAAAAAAAAAAAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1099		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50014344	A A	AAAAATAT others(6): Show AAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	13	c.-11 others(24): Show c.-1150_-1149insAAAATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1099		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50014344	A A	AAATATAT others(6): Show AAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	448	0.0022	13	c.-11 others(24): Show c.-1150_-1149insAATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1099		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50014344	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	448	0.0022	13	c.-11 others(24): Show c.-1150_-1149insTATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		1099		chr13	TogoVar
KCNS1_chr20_45086214_45106127	45089028	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02886.hp2 HG02970.hp2 others(4): Show HG01081.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp1 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0002c0002t0044 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0002t0044 a0002c0002t0068	a0001c0001t0002g0004 a0002c0002t0002g0087 a0002c0002t0044g0081 others(1): Show a0001c0001t0002g0004 a0002c0002t0002g0087 a0002c0002t0044g0081 a0002c0002t0068g0104	7	426	0.0164	13	c.58 others(24): Show c.5841_*5842insTTTTTTTTTTTTT	KCNS1	ENSG00000124134.9	transcript	ENST00000537075.3	protein_coding		2185		chr20	TogoVar
KCNS3_chr2_17873667_17937958	17884260	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	384	0.0026	13	c.-25 others(32): Show c.-252+5454_-252+5455insTATATATATATAT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2			chr2	TogoVar
KCNS3_chr2_17873667_17937958	17884304	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	384	0.0026	13	c.-25 others(32): Show c.-252+5498_-252+5499insATATATATATATA	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2			chr2	TogoVar
KCNT1_chr9_135697185_135800502	135727157	C C	CCCTCCCT others(6): Show CCCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0176 a0001c0001t0013g0176	1	272	0.0037	13	c.254 others(32): Show c.254+12438_254+12439insCTCCCTCTCCCTC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135732041	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	272	0.0037	13	c.254 others(32): Show c.254+17321_254+17322insAGAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30			chr9	TogoVar
KCNT1_chr9_135697185_135800502	135733458	G G	GCCCCCAC others(6): Show GCCCCCACACCTGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	272	0.0037	13	c.255 others(32): Show c.255-16635_255-16623dupCACACCTGCCCCC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135767092	C C	CTGAATGT others(6): Show CTGAATGTGTCCTT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0032 a0001c0001t0011g0032	1	272	0.0037	13	c.133 others(32): Show c.1337+1333_1337+1345dupTGAATGTGTCCTT	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	13/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135768240	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0070 a0001c0022t0001g0070	1	272	0.0037	13	c.133 others(30): Show c.1338-365_1338-353dupGGGGGGGGGGGGG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	13/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	136	0.0074	13	c.269 others(32): Show c.2697+1408_2697+1409insATATATATATATT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196367090	A A	AGGATTTG others(6): Show AGGATTTGTGATTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0002 a0001c0004t0004g0002	1	136	0.0074	13	c.140 others(32): Show c.1403+6037_1403+6049dupGAATCACAAATCC	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	14/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196561652	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03209.hp2 HG01261.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0086 a0001c0001t0006g0001 a0001c0001t0001g0086 a0001c0001t0006g0001	2	136	0.0147	13	c.95+ others(30): Show c.95+46550_95+46562dupTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196561675	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp1 HG02451.hp2 others(4): Show HG00323.hp2 HG00735.hp1 HG02451.hp2 HG03516.hp2 HG06807.hp1 NA18990.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0055 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0006t0001g0061	7	136	0.0515	13	c.95+ others(30): Show c.95+46539_95+46540insCTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196570067	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp1 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0083 a0001c0001t0001g0087	2	136	0.0147	13	c.95+ others(30): Show c.95+38135_95+38147dupTTTTTTTTTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	1/27			chr1	TogoVar

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