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
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(28): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19004.hp2 NA19087.hp1 HG02922.hp1 NA19004.hp2 NA19087.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0293 a0003c0003t0001g0182 a0003c0003t0001g0191 a0002c0002t0001g0293 a0003c0003t0001g0182 a0003c0003t0001g0191	3	310	0.0097	35	c.333 others(54): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTCTTTTCTTTT CTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0129 a0005c0005t0001g0129	1	310	0.0032	35	c.169 others(52): Show c.169-7148_169-7147insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02129.hp2 HG03942.hp1 HG01934.hp1 HG02129.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0158 a0001c0001t0002g0033 a0001c0001t0002g0158	3	386	0.0078	35	c.65- others(50): Show c.65-1325_65-1324insATATATATATATATATATATATATATATTT TTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18977.hp2 HG01074.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0134 a0001c0001t0002g0107 a0001c0001t0002g0134	2	386	0.0052	35	c.65- others(50): Show c.65-1325_65-1324insATATATATATATATATATATATATTTTTTT TTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	386	0.0026	35	c.65- others(50): Show c.65-1325_65-1324insATATATATATATATATATATTTTTTTTTTT TTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	386	0.0026	35	c.65- others(50): Show c.65-1325_65-1324insATATATATATATATATATTTTTTTTTTTTT TTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JUP_chr17_41749609_41791711	41750311	C C	CCTCTGTC others(28): Show CCTCTGTCCTGTGCCTCTGTCCTGCAGTGGCACAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0141 a0001c0004t0003g0141	1	410	0.0024	35	c.54 others(46): Show c.5432_*5433insATTGTGCCACTGCAGGACAGAGGCACAGGACAGA G	JUP	ENSG00000173801.17	transcript	ENST00000393931.8	protein_coding		4297		chr17	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0043 a0001c0017t0005g0043	1	116	0.0086	35	c.456 others(50): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0023 a0023	a0023c0038 a0023c0038	a0023c0038t0001 a0023c0038t0001	a0023c0038t0001g0011 a0023c0038t0001g0011	1	254	0.0039	35	c.-83 others(52): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANSL1_chr17_46024916_46198429	46045440	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0320 a0003c0004t0005g0320	1	321	0.0031	35	c.202 others(54): Show c.2020+5092_2020+5093insATATATATATATATATATATATATTT TTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	7/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CCTTTTTT others(28): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	321	0.0031	35	c.129 others(54): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02735.hp1 HG01358.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0048 a0001c0001t0001g0052	2	380	0.0053	35	c.37 others(46): Show c.3761_*3762insATATATATATATATATATATATATATATATATAT A	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18994.hp1 NA19000.hp1 HG03225.hp2 NA18994.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0037 a0001c0001t0002g0215 a0001c0002t0002g0297 a0001c0001t0002g0037 a0001c0001t0002g0215 a0001c0002t0002g0297	3	374	0.0080	35	c.230 others(54): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNA1_chr6_149589873_149653714	149634275	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	296	0.0034	35	c.163 others(52): Show c.163-1394_163-1360dupATTTTATTTTATTTTATTTTATTTTATT TTATTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10			chr6	TogoVar
KATNBL1_chr15_34135674_34215096	34195690	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	344	0.0029	35	c.-15 others(54): Show c.-15+14260_-15+14261insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNIP_chr16_27545144_27785344	27549081	G G	GAGGCGGA others(28): Show GAGGCGGACGGAGGTTGCAGTGAGCCAAGATCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	152	0.0066	35	c.-10 others(46): Show c.-1090_-1089insAGGCGGACGGAGGTTGCAGTGAGCCAAGATCGCG C	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding		1062		chr16	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG00438.hp2 HG01106.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0002 a0002c0002t0001 a0003c0005t0002	a0002c0002t0001g0010 a0003c0005t0002g0091 a0002c0002t0001g0010 a0003c0005t0002g0091	2	146	0.0137	35	c.226 others(54): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883342	G G	GAGAGAGA others(28): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0016 a0001c0001t0027g0016	1	146	0.0069	35	c.227 others(54): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883347	A A	AGGGAGGG others(28): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0019 a0003c0017t0002g0019	1	146	0.0069	35	c.227 others(54): Show c.227-77337_227-77336insGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KCMF1_chr2_84966161_85064472	85008335	A A	AATGATAT others(28): Show AATGATATATATTATATATGATATATATTATATATC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0015 a0001c0001t0062g0015	1	274	0.0037	35	c.17- others(52): Show c.17-19552_17-19551insGATATATATTATATATGATATATATTAT ATATCAT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	85008375	G G	GATATATA others(28): Show GATATATAATATATATCATATATAATATATAATGAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0273 a0001c0001t0067g0273	1	274	0.0037	35	c.17- others(52): Show c.17-19508_17-19507insAATATATATCATATATAATATATAATGA TATATAT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNAB1_chr3_156115578_156543605	156518461	G G	GAAAGAAA others(28): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG03041.hp2 others(1): Show HG02280.hp1 HG02486.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0028 a0001c0001t0004g0072 a0001c0001t0012g0063 others(1): Show a0001c0001t0001g0028 a0001c0001t0004g0072 a0001c0001t0012g0063 a0001c0003t0001g0020	4	124	0.0323	35	c.960 others(52): Show c.960+2119_960+2120insAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	278	0.0036	35	c.568 others(54): Show c.568-50679_568-50678insTATATATATATATATATATATATATA TATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNH1_chr1_210673314_211139148	210806832	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0149 a0001c0002t0014g0149	1	164	0.0061	35	c.146 others(54): Show c.1463-2667_1463-2666insATATATATATATATATATATATATAT ATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853453	A A	AATCATAT others(28): Show AATCATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18959.hp2 NA19081.hp1 others(1): Show HG01175.hp2 NA18959.hp2 NA19081.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0001t0036	a0001c0001t0001g0110 a0001c0001t0005g0014 a0001c0001t0029g0171 others(1): Show a0001c0001t0001g0110 a0001c0001t0005g0014 a0001c0001t0029g0171 a0001c0001t0036g0211	4	224	0.0179	35	c.137 others(54): Show c.1370-3602_1370-3601insATATATATATATATATATATATATAT ATATATGAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp2 HG01928.hp2 others(6): Show HG00738.hp2 HG01515.hp2 HG01928.hp2 HG02074.hp2 HG02083.hp1 HG04204.hp2 NA18993.hp1 NA19002.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0027 a0001c0001t0028 a0001c0001t0040 a0002c0002t0004	a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0212 others(6): Show a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0212 a0001c0001t0002g0042 a0001c0001t0003g0082 a0001c0001t0027g0098 a0001c0001t0028g0056 a0001c0001t0040g0201 a0002c0002t0004g0089	9	224	0.0402	35	c.137 others(54): Show c.1370-3607_1370-3606insGATATATATATATATATATATATATA TATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63003559	A A	ATATATAT others(28): Show ATATATATTTATATTTATATACATAATATATATATT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18961.hp2 NA19002.hp1 others(1): Show NA18950.hp2 NA18961.hp2 NA19002.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0083 a0001c0001t0002g0084 a0001c0001t0003g0082 others(1): Show a0001c0001t0001g0083 a0001c0001t0002g0084 a0001c0001t0003g0082 a0001c0001t0005g0085	4	224	0.0179	35	c.305 others(52): Show c.305-2135_305-2101dupAATATATATATTATGTATATAAATATAA ATATATA	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	3/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63047162	G G	GCCTCCCC others(28): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	224	0.0045	35	c.-20 others(46): Show c.-2011_-1977dupGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG G	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding		1705		chr14	TogoVar
KCNH8_chr3_19143510_19540642	19308713	T T	TCCCCTCT others(28): Show TCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	134	0.0075	35	c.442 others(54): Show c.442+27385_442+27386insCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCTCCC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170618516	A A	AAGGAAGG others(28): Show AAGGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03540.hp2 HG03516.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0209 a0001c0001t0001g0156 a0001c0001t0001g0209	2	218	0.0092	35	c.62- others(54): Show c.62-100239_62-100238insAAGGGAGGGAGGGAGGGAGGAAAGGA GGGAGGAGG	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP3_chr2_95292347_95391077	95327964	T T	TTCTGGGA others(28): Show TTCTGGGAATTTGCAGAACCTGATGGAAGCTTGTGG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	298	0.0034	35	c.181 others(54): Show c.181+17444_181+17445insTCTGGGAATTTGCAGAACCTGATGGA AGCTTGTGG	KCNIP3	ENSG00000115041.14	transcript	ENST00000295225.10	protein_coding	2/8			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21519740	G G	GTGTATAT others(28): Show GTGTATATATACACACGTGTGTGTATGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	80	0.0125	35	c.61+ others(54): Show c.61+428830_61+428831insACACACATACATACACACACGTGTGT ATATATACA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21582006	A A	AAGAATAG others(28): Show AAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	80	0.0125	35	c.61+ others(54): Show c.61+366564_61+366565insATTCTATTCTATTCTATTCTATTCTA TTCTATTCT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ13_chr2_232760802_232781565	232763747	C C	CTTGAACC others(28): Show CTTGAACCCGGGAGGTGGAGGCTGCAGTGCGCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	446	0.0022	35	c.44 others(46): Show c.4409_*4443dupCTCAGCGCACTGCAGCCTCCACCTCCCGGGTTCA A	KCNJ13	ENSG00000115474.7	transcript	ENST00000233826.4	protein_coding		2054		chr2	TogoVar
KCNJ6_chr21_37602373_37921457	37630158	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0127 a0001c0003t0127	a0001c0003t0127g0036 a0001c0003t0127g0036	1	198	0.0051	35	c.947 others(52): Show c.947-4675_947-4674insACACACACACACACACACACACACACAC ACACACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK10_chr14_88175108_88328269	88198892	C C	CTTATTTT others(28): Show CTTATTTTATTTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	334	0.0030	35	c.682 others(52): Show c.682-6517_682-6483dupAATAAAATAAAATAAAATAAAATAAAAT AAAATAA	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6			chr14	TogoVar
KCNK13_chr14_90056994_90190853	90143176	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	320	0.0031	35	c.335 others(54): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK2_chr1_215077737_215242090	215209204	A A	AAAATATA others(28): Show AAAATATACACATATTTTTATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp2 HG01891.hp2 others(2): Show HG01071.hp2 HG01106.hp2 HG01891.hp2 HG02622.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0002 a0001c0002t0011 others(1): Show a0001c0001t0035 a0001c0002t0002 a0001c0002t0011 a0001c0002t0033	a0001c0001t0035g0141 a0001c0002t0002g0171 a0001c0002t0011g0168 others(2): Show a0001c0001t0035g0141 a0001c0002t0002g0171 a0001c0002t0011g0168 a0001c0002t0011g0169 a0001c0002t0033g0170	5	260	0.0192	35	c.963 others(54): Show c.963+14127_963+14161dupTTTTATATATAAAATATATATAAATA TACACATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215238848	T T	TAAATAAA others(28): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG03491.hp1 others(2): Show HG02717.hp1 HG03195.hp1 HG03491.hp1 NA18945.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0002t0060	a0001c0001t0002g0176 a0001c0001t0004g0161 a0001c0001t0015g0076 others(2): Show a0001c0001t0002g0176 a0001c0001t0004g0161 a0001c0001t0015g0076 a0001c0001t0016g0027 a0001c0002t0060g0173	5	260	0.0192	35	c.37 others(46): Show c.3703_*3704insAAATAAAATAAAATAAAATAAAATAAAATAAAAT A	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding		1759		chr1	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0014	1	432	0.0023	35	c.-12 others(46): Show c.-1284_-1283insATATATATATATATATATATATATATATATATTT T	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0176 a0001c0001t0035g0176	1	432	0.0023	35	c.-12 others(46): Show c.-1284_-1283insATATATATATATATATATATATATATATATATAT T	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178758803	A A	ATATATAT others(28): Show ATATATATCTCCAAGAGGGATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	232	0.0043	35	c.-67 others(54): Show c.-67-48539_-67-48538insATATATCTCCAAGAGGGATATATATA TATATATCT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759050	T T	TATATATA others(28): Show TATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG01884.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0161 a0001c0001t0001g0101 a0001c0001t0001g0161	2	232	0.0086	35	c.-67 others(54): Show c.-67-48269_-67-48268insCTCCAAGAGGGATATATATATATATA TATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114379656	A A	ATATTATA others(28): Show ATATTATATATTTGTAGAATATATTATATAACATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp2 NA20129.hp2 NA18522.hp2 NA19043.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0009 a0003c0003 a0003c0009	a0003c0003t0001 a0003c0009t0001 a0003c0003t0001 a0003c0009t0001	a0003c0003t0001g0193 a0003c0003t0001g0196 a0003c0009t0001g0195 a0003c0003t0001g0193 a0003c0003t0001g0196 a0003c0009t0001g0195	3	250	0.0120	35	c.121 others(56): Show c.1218+15658_1218+15659insTATATATTTGTAGAATATATTATA TAACATATTAT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTAATATA others(28): Show TTAATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	238	0.0042	35	c.144 others(54): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATATTA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ3_chr8_132115861_132486095	132134531	A A	AGAGGGGA others(28): Show AGAGGGGAGGAGAGGAGAAGTGAGGAGAGGAGAGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18952.hp1 HG02015.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0069 a0001c0001t0037 a0001c0001t0069	a0001c0001t0037g0028 a0001c0001t0069g0073 a0001c0001t0037g0028 a0001c0001t0069g0073	2	176	0.0114	35	c.170 others(52): Show c.1701-178_1701-144dupCCCTCTCCTCTCCTCACTTCTCCTCTCC TCCCCTC	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	12/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132303578	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0164 a0001c0001t0110g0164	1	176	0.0057	35	c.387 others(56): Show c.387-117398_387-117397insATATATATATATATATATATATAT ATATATATATA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp2 HG03209.hp1 others(2): Show HG01891.hp1 HG02615.hp2 HG03209.hp1 NA19030.hp1 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0029 a0001c0001t0046 a0001c0001t0053 others(2): Show a0001c0001t0029 a0001c0001t0046 a0001c0001t0053 a0002c0002t0001 a0003c0004t0013	a0001c0001t0029g0135 a0001c0001t0046g0044 a0001c0001t0053g0048 others(2): Show a0001c0001t0029g0135 a0001c0001t0046g0044 a0001c0001t0053g0048 a0002c0002t0001g0015 a0003c0004t0013g0072	5	176	0.0284	35	c.386 others(54): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNT1_chr9_135697185_135800502	135726942	C C	CCTCTCTT others(28): Show CCTCTCTTTCCCATTCTCTCTCTCCCTCTCTCACCT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	272	0.0037	35	c.254 others(54): Show c.254+12239_254+12240insTCTCTCCCTCTCTCACCTCTCTCTTT CCCATTCTC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135732024	A A	AGGAGAGG others(28): Show AGGAGAGGAGAGGAAGAGAGAGAGAGGAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	272	0.0037	35	c.254 others(54): Show c.254+17305_254+17306insGAGAGGAGAGGAAGAGAGAGAGAGGA AGAGAGAGG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar

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