Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KAT2A_chr17_42108111_42126367	42118095	AGCTGAGG others(20): Show AGCTGAGGAGAGAGAGAGTCAGGGACGG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0049 a0004c0008t0001g0049	1	354	0.0028	-27	c.118 others(43): Show c.1181-105_1181-79delCCGTCCCTGACTCTCTCTCTCCTCAGC		KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	7/17						chr17	TogoVar
KAT2B_chr3_20035446_20159404	20106989	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0074 a0001c0004t0001g0074	1	374	0.0027	-27	c.852 others(44): Show c.852-4605_852-4579delATATATATATATATATATATATATATT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106991	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0170 a0001c0004t0003g0170	1	374	0.0027	-27	c.852 others(44): Show c.852-4603_852-4577delATATATATATATATATATATATATTTT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106993	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0328 a0001c0004t0001g0328	1	374	0.0027	-27	c.852 others(44): Show c.852-4601_852-4575delATATATATATATATATATATATTTTTT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106997	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	374	0.0027	-27	c.852 others(44): Show c.852-4597_852-4571delATATATATATATATATATTTTTTTTTT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20107009	ATATATAT others(20): Show ATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	374	0.0027	-27	c.852 others(44): Show c.852-4585_852-4559delATATATTTTTTTTTTTTTTTTTTTTTT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT6A_chr8_41924479_42056987	41953224	ACAAAAGT others(20): Show ACAAAAGTAAATGCTAGCCCTCTATTTC	A A	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0168 a0001c0019t0007g0168	1	374	0.0027	-27	c.159 others(46): Show c.1598+2045_1598+2071delGAAATAGAGGGCTAGCATTTACTTTT G		KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	9/16						chr8	TogoVar
KAT6B_chr10_74821600_75037624	74830758	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02622.hp1 others(4): Show HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02809.hp2 NA18522.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002	a0003c0003t0002g0020 a0004c0004t0001g0014 a0004c0004t0001g0015 others(4): Show a0003c0003t0002g0020 a0004c0004t0001g0014 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0002g0017 a0004c0004t0002g0018 a0004c0004t0002g0019	7	236	0.0297	-27	c.-32 others(46): Show c.-329+3975_-329+4001delATATATATATTTTTTTTTTTTTTTTT T		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT6B_chr10_74821600_75037624	74830760	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	236	0.0042	-27	c.-32 others(46): Show c.-329+3977_-329+4003delATATATATTTTTTTTTTTTTTTTTTT T		KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
KAZN_chr1_14593685_15123043	14681635	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0131 a0001c0001t0010g0131	1	146	0.0069	-27	c.226 others(46): Show c.226+82414_226+82440delATATATATATATATATATATATTTTT T		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14927956	TGCCTTGT others(20): Show TGCCTTGTCTTCATGGGTCCTCCCAGCA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG02055.hp1 others(12): Show HG00642.hp2 HG01167.hp2 HG02055.hp1 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03225.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0003t0018 a0001c0008t0009 a0002c0002t0001	a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0144 others(12): Show a0001c0001t0002g0006 a0001c0001t0002g0046 a0001c0001t0002g0144 a0001c0001t0003g0005 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0001t0004g0009 a0001c0001t0008g0030 a0001c0001t0009g0033 a0001c0001t0009g0115 a0001c0003t0018g0123 a0001c0008t0009g0120 a0002c0002t0001g0084 a0002c0002t0001g0128	15	146	0.1027	-27	c.227 others(46): Show c.227-32727_227-32701delGCCTTGTCTTCATGGGTCCTCCCAGC A		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14						chr1	TogoVar
KAZN_chr1_14593685_15123043	15050159	GGAATAGA others(20): Show GGAATAGAATAGAATAGAATAGAATAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02630.hp2 HG02647.hp2 others(2): Show HG00621.hp2 HG02630.hp2 HG02647.hp2 NA18612.hp2 NA19005.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0014 a0001c0001 a0002c0002 a0006c0014	a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 others(2): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 a0002c0002t0001 a0006c0014t0005	a0001c0001t0003g0136 a0001c0001t0007g0021 a0001c0001t0027g0016 others(2): Show a0001c0001t0003g0136 a0001c0001t0007g0021 a0001c0001t0027g0016 a0002c0002t0001g0073 a0006c0014t0005g0097	5	146	0.0343	-27	c.727 others(44): Show c.727-5931_727-5905delGAATAGAATAGAATAGAATAGAATAGA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14						chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969227	TATATTTA others(20): Show TATATTTATAAATTTATATATAAAATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(131): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG01255.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0009 a0004c0008 others(1): Show a0001c0001 a0001c0009 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0036 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0001c0001t0052 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0009t0006 a0004c0008t0050 a0005c0006t0006	a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0001g0197 others(128): Show a0001c0001t0001g0014 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0285 a0001c0001t0002g0367 a0001c0001t0003g0022 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0089 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0004g0019 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0006g0002 a0001c0001t0006g0025 a0001c0001t0006g0032 a0001c0001t0006g0057 a0001c0001t0006g0108 a0001c0001t0007g0227 a0001c0001t0008g0291 a0001c0001t0009g0034 a0001c0001t0010g0008 a0001c0001t0012g0343 a0001c0001t0012g0345 a0001c0001t0015g0075 a0001c0001t0017g0049 a0001c0001t0017g0078 a0001c0001t0018g0315 a0001c0001t0019g0341 a0001c0001t0023g0332 a0001c0001t0023g0333 a0001c0001t0026g0128 a0001c0001t0026g0129 a0001c0001t0028g0095 a0001c0001t0028g0096 a0001c0001t0036g0235 a0001c0001t0042g0303 a0001c0001t0044g0334 a0001c0001t0049g0302 a0001c0001t0052g0147 a0001c0001t0059g0040 a0001c0001t0061g0046 a0001c0001t0063g0323 a0001c0001t0064g0029 a0001c0001t0065g0151 a0001c0001t0066g0062 a0001c0001t0068g0084 a0001c0001t0070g0093 a0001c0001t0071g0031 a0001c0009t0006g0021 a0004c0008t0050g0318 a0005c0006t0006g0035	134	389	0.3445	-27	c.-56 others(38): Show c.-5616_-5590delATATTTATAAATTTATATATAAAATAC		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					4449		chr8	TogoVar
KCNAB2_chr1_6040888_6106180	6045432	AGGACATG others(20): Show AGGACATGTGCCGTGGAGAAGGGCTCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	360	0.0028	-27	c.-77 others(36): Show c.-777_-751delGGACATGTGCCGTGGAGAAGGGCTCCT		KCNAB2	ENSG00000069424.16	transcript	ENST00000378083.8	protein_coding					455		chr1	TogoVar
KCNC2_chr12_75035078_75214839	75188585	GGCGCGGT others(20): Show GGCGCGGTGGCTTACACCTGTAATCCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01884.hp2 HG01891.hp2 others(21): Show HG01069.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0037 a0001c0001t0038 a0001c0008t0005	a0001c0001t0001g0110 a0001c0001t0005g0003 a0001c0001t0005g0112 others(21): Show a0001c0001t0001g0110 a0001c0001t0005g0003 a0001c0001t0005g0112 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0315 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0010g0303 a0001c0001t0010g0306 a0001c0001t0013g0107 a0001c0001t0013g0111 a0001c0001t0019g0305 a0001c0001t0019g0312 a0001c0001t0020g0310 a0001c0001t0020g0311 a0001c0001t0021g0309 a0001c0001t0021g0313 a0001c0001t0023g0109 a0001c0001t0037g0314 a0001c0001t0038g0304 a0001c0008t0005g0108	24	316	0.0760	-27	c.687 others(46): Show c.687+18685_687+18711delTGGGATTACAGGTGTAAGCCACCGCG C		KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4						chr12	TogoVar
KCNG4_chr16_84213657_84245012	84227592	AAAACAAA others(20): Show AAAACAAAACCCAAAAAAACTTGTACAC	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	472	0.0021	-27	c.757 others(44): Show c.757-4599_757-4573delGTGTACAAGTTTTTTTGGGTTTTGTTT		KCNG4	ENSG00000168418.8	transcript	ENST00000308251.6	protein_coding	2/2						chr16	TogoVar
KCNG4_chr16_84213657_84245012	84227859	GTCCAGAG others(20): Show GTCCAGAGCAGGCAAATCCACAGAGACA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0019 a0021c0032t0019	a0021c0032t0019g0298 a0021c0032t0019g0298	1	472	0.0021	-27	c.757 others(44): Show c.757-4866_757-4840delTGTCTCTGTGGATTTGCCTGCTCTGGA		KCNG4	ENSG00000168418.8	transcript	ENST00000308251.6	protein_coding	2/2						chr16	TogoVar
KCNH1_chr1_210673314_211139148	211027434	ATCTCTAG others(20): Show ATCTCTAGAAAACATTTAAAAGTTGCCG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02723.hp1 HG03225.hp2 HG01071.hp1 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0026 a0001c0001t0009 a0001c0001t0016 a0001c0001t0026	a0001c0001t0009g0063 a0001c0001t0016g0065 a0001c0001t0026g0064 a0001c0001t0009g0063 a0001c0001t0016g0065 a0001c0001t0026g0064	3	164	0.0183	-27	c.559 others(44): Show c.559-8205_559-8179delCGGCAACTTTTAAATGTTTTCTAGAGA		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10						chr1	TogoVar
KCNH7_chr2_162366407_162843767	162741187	TATGTTAT others(20): Show TATGTTATTAATTATACATATTAATAAC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	100	0.0100	-27	c.307 others(46): Show c.307+95323_307+95349delGTTATTAATATGTATAATTAATAACA T		KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15						chr2	TogoVar
KCNH8_chr3_19143510_19540642	19180235	GTTCAAAG others(20): Show GTTCAAAGGGCCAAGACAGACTTGGCCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(98): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18950.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18998.hp2 NA19006.hp2 NA19084.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0002c0002 a0003c0005 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0002c0002t0001 a0003c0005t0001 a0005c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0003g0036 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0005g0040 a0001c0001t0007g0107 a0001c0001t0008g0123 a0001c0001t0009g0112 a0001c0001t0010g0041 a0001c0003t0001g0096 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0004t0001g0102 a0001c0004t0001g0103 a0001c0006t0001g0053 a0001c0009t0001g0091 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0011 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0059 a0002c0002t0001g0071 a0002c0002t0001g0078 a0002c0002t0001g0082 a0003c0005t0001g0009 a0003c0005t0001g0083 a0005c0008t0001g0086	101	134	0.7537	-27	c.76+ others(44): Show c.76+31484_76+31510delAGACTTGGCCCTTCAAAGGGCCAAGAC		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170550627	ATGATGGT others(20): Show ATGATGGTGATGACAATGATGGTAACAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	218	0.0046	-27	c.61+ others(44): Show c.61+46000_61+46026delGTGATGACAATGATGGTAACAGTGATG		KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP3_chr2_95292347_95391077	95334359	AGGGTGGG others(20): Show AGGGTGGGCAGGGGTTAAGGAATGCTTC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02572.hp2 HG00642.hp2 HG01891.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0230 a0001c0001t0010g0116 a0001c0001t0010g0229 a0001c0001t0004g0230 a0001c0001t0010g0116 a0001c0001t0010g0229	3	298	0.0101	-27	c.181 others(46): Show c.181+23840_181+23866delGGGTGGGCAGGGGTTAAGGAATGCTT C		KCNIP3	ENSG00000115041.14	transcript	ENST00000295225.10	protein_coding	2/8						chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21365514	TAAATAAA others(20): Show TAAATAAATAAAAAATAAAGAAAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0013 a0001c0001t0002g0063 a0001c0001t0001g0013 a0001c0001t0002g0063	2	80	0.0250	-27	c.62- others(46): Show c.62-482832_62-482806delTTTTCTTTCTTTATTTTTTATTTATT T		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNJ12_chr17_21371357_21424870	21385430	TTGATCCC others(20): Show TTGATCCCTATTCTGCTGTGTGGCCGGA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0164 a0001c0001t0070g0164	1	376	0.0027	-27	c.-17 others(46): Show c.-179+8518_-179+8544delTGATCCCTATTCTGCTGTGTGGCCGG A		KCNJ12	ENSG00000184185.10	transcript	ENST00000583088.6	protein_coding	1/2						chr17	TogoVar
KCNJ3_chr2_154693695_154863354	154736374	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp2 HG03453.hp1 others(1): Show HG02280.hp1 HG02647.hp2 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0021	a0001c0001t0002g0102 a0001c0001t0003g0104 a0001c0001t0011g0103 others(1): Show a0001c0001t0002g0102 a0001c0001t0003g0104 a0001c0001t0011g0103 a0001c0001t0021g0108	4	284	0.0141	-27	c.919 others(46): Show c.919+26569_919+26595delAAAAAAAAAAAAAAAAAAAAAAAAAA A		KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNJ3_chr2_154693695_154863354	154857886	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG01433.hp2 HG01361.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0017 a0001c0001t0026g0018 a0001c0001t0026g0017 a0001c0001t0026g0018	2	284	0.0070	-27	c.25 others(38): Show c.2588_*2614delAAAAAAAAAAAAAAAAAAAAAAAAAAA		KCNJ3	ENSG00000162989.5	transcript	ENST00000295101.3	protein_coding	3/3				2588	INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNJ6_chr21_37602373_37921457	37607089	TGTGGGAG others(20): Show TGTGGGAGAGATGGGGAAAGAGACAGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0023 a0001c0001t0020g0023	1	198	0.0051	-27	c.18 others(40): Show c.18043_*18069delTCCTGTCTCTTTCCCCATCTCTCCCAC		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding					283		chr21	TogoVar
KCNJ9_chr1_160076538_160095563	160076578	CATTATGT others(20): Show CATTATGTAAGTAGATCACCCCCTTTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	430	0.0023	-27	c.-52 others(38): Show c.-5233_-5207delATTATGTAAGTAGATCACCCCCTTTAA		KCNJ9	ENSG00000162728.5	transcript	ENST00000368088.4	protein_coding					4959		chr1	TogoVar
KCNK10_chr14_88175108_88328269	88220416	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	334	0.0030	-27	c.681 others(44): Show c.681+6932_681+6958delTTTTTTTTTTTTTTTTTTTTTTTTTTT		KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6						chr14	TogoVar
KCNK13_chr14_90056994_90190853	90075025	TTTTGTAT others(20): Show TTTTGTATTTTTATTTTATTATTTTATC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG02897.hp2 others(3): Show HG02559.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp1 HG03209.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0004 a0005c0007t0001 a0001c0001t0001 a0001c0001t0004 a0005c0007t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0004g0120 a0001c0001t0004g0121 a0005c0007t0001g0198	6	320	0.0188	-27	c.334 others(46): Show c.334+12493_334+12519delTTTTTATTTTATTATTTTATCTTTGT A		KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNMA1_chr10_76879882_77642808	77439122	GAAGAGAA others(20): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0061 a0001c0001t0006g0061	1	106	0.0094	-27	c.379 others(46): Show c.379-35126_379-35100delTTCTCTTCTCTTCTCTTCTCTTCTCT T		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27						chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170375533	TCCCTCAG others(20): Show TCCCTCAGCCCTTCACAGCTGGCTCTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0169 a0001c0001t0076g0169	1	432	0.0023	-27	c.31 others(38): Show c.3144_*3170delGCAGAGCCAGCTGTGAAGGGCTGAGGG		KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding	4/4				3144		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178568817	AATAGATA others(20): Show AATAGATAGATAGATGATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	232	0.0043	-27	c.-68 others(46): Show c.-68+32117_-68+32143delAGATGATAGATAGATAGATAGATAGA T		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759062	TATATATA others(20): Show TATATATATATATATATCTCCAAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03139.hp1 NA19043.hp2 others(1): Show HG00280.hp1 HG03139.hp1 NA19043.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0201 a0001c0001t0003g0203 a0001c0002t0001g0175 others(1): Show a0001c0001t0002g0201 a0001c0001t0003g0203 a0001c0002t0001g0175 a0001c0002t0001g0198	4	232	0.0172	-27	c.-67 others(46): Show c.-67-48266_-67-48240delATCTCCAAGAGGGATATATATATATA T		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN1_chr19_17962107_18005085	17970289	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0146 a0001c0001t0002g0147	2	378	0.0053	-27	c.-82 others(44): Show c.-82+2991_-82+3017delTTTTTTTTTTTTTTTTTTTTTTTTTTT		KCNN1	ENSG00000105642.16	transcript	ENST00000684775.1	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNQ1_chr11_2440008_2854105	2699487	GGGAGAGT others(20): Show GGGAGAGTGCCGCGCTGAGGAGCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(82): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02083.hp2 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03688.hp1 HG04228.hp1 HG06807.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18995.hp1 NA19007.hp1 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0009	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0004 a0005c0008 a0007c0011 a0009c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001 a0001c0007t0001 a0002c0004t0002 a0005c0008t0002 a0007c0011t0001 a0009c0015t0002	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0036 others(82): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0002g0007 a0001c0001t0002g0024 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0136 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0003g0084 a0001c0001t0003g0100 a0001c0001t0003g0112 a0001c0001t0003g0151 a0001c0001t0003g0168 a0001c0001t0003g0174 a0001c0001t0003g0180 a0001c0001t0004g0038 a0001c0001t0004g0143 a0001c0001t0005g0004 a0001c0001t0005g0181 a0001c0001t0006g0017 a0001c0001t0006g0187 a0001c0001t0007g0018 a0001c0001t0007g0159 a0001c0001t0007g0199 a0001c0001t0009g0026 a0001c0001t0009g0201 a0001c0002t0001g0028 a0001c0002t0001g0069 a0001c0002t0001g0117 a0001c0002t0001g0195 a0001c0002t0002g0051 a0001c0002t0002g0083 a0001c0002t0002g0118 a0001c0002t0002g0130 a0001c0002t0002g0152 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0177 a0001c0002t0003g0115 a0001c0002t0003g0120 a0001c0002t0003g0169 a0001c0005t0001g0124 a0001c0005t0001g0162 a0001c0007t0001g0103 a0002c0004t0002g0059 a0002c0004t0002g0067 a0002c0004t0002g0070 a0002c0004t0002g0071 a0005c0008t0002g0064 a0007c0011t0001g0037 a0009c0015t0002g0127	85	208	0.4087	-27	c.151 others(48): Show c.1514+37428_1514+37454delCCCCCAGGAGAGTGCCGCGCTGAG GAG		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2829981	GGGAGGAG others(20): Show GGGAGGAGGAAGGAAGAGGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0031 a0001c0001t0015g0031	1	208	0.0048	-27	c.179 others(48): Show c.1795-17772_1795-17746delAGAGGGAGGAGGAAGGAGGAGGAA GGA		KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ5_chr6_72617064_73203853	72746064	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02109.hp2 others(14): Show HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02647.hp1 HG02809.hp2 HG02970.hp1 HG03041.hp2 HG03453.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0027 a0001c0001t0032 a0001c0002t0001 a0001c0002t0003 a0001c0002t0031	a0001c0001t0002g0006 a0001c0001t0004g0034 a0001c0001t0004g0045 others(14): Show a0001c0001t0002g0006 a0001c0001t0004g0034 a0001c0001t0004g0045 a0001c0001t0004g0061 a0001c0001t0005g0073 a0001c0001t0008g0032 a0001c0001t0008g0060 a0001c0001t0009g0037 a0001c0001t0012g0068 a0001c0001t0017g0047 a0001c0001t0018g0066 a0001c0001t0022g0075 a0001c0001t0027g0030 a0001c0001t0032g0035 a0001c0002t0001g0002 a0001c0002t0003g0071 a0001c0002t0031g0057	17	80	0.2125	-27	c.398 others(48): Show c.398+123491_398+123517delAAAAAAAAAAAAAAAAAAAAAAAA AAA		KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNRG_chr13_50010444_50025922	50015085	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA18966.hp2 HG04184.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	448	0.0045	-27	c.-40 others(36): Show c.-408_-382delAAAAAAAAAATATATATATATATATAT		KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding					358		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015087	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	448	0.0022	-27	c.-40 others(36): Show c.-406_-380delAAAAAAAATATATATATATATATATAT		KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding					356		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015089	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA19057.hp2 HG02165.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	448	0.0045	-27	c.-40 others(36): Show c.-404_-378delAAAAAATATATATATATATATATATAT		KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding					354		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015091	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 NA18989.hp1 NA19012.hp1 HG00099.hp2 NA18989.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004	3	448	0.0067	-27	c.-40 others(36): Show c.-402_-376delAAAATATATATATATATATATATATAT		KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding					352		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015093	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG01934.hp1 others(13): Show HG01192.hp2 HG01361.hp2 HG01934.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02273.hp1 HG02698.hp1 HG03491.hp2 HG03704.hp1 HG03942.hp2 NA19070.hp2 NA19077.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	16	448	0.0357	-27	c.-40 others(36): Show c.-400_-374delAATATATATATATATATATATATATAT		KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding					350		chr13	TogoVar
KCNT1_chr9_135697185_135800502	135768245	GGGGGGGG others(20): Show GGGGGGGGGGGGGCACTGGGATACCGGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01168.hp1 others(12): Show HG00323.hp1 HG00323.hp2 HG01168.hp1 HG01192.hp1 HG01981.hp1 HG02273.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02895.hp2 HG03209.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0021 a0001c0001 a0001c0003 a0005c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0003t0013 a0005c0021t0001	a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 others(12): Show a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0191 a0001c0001t0001g0214 a0001c0001t0001g0242 a0001c0001t0003g0016 a0001c0001t0003g0168 a0001c0001t0003g0245 a0001c0001t0015g0103 a0001c0001t0016g0102 a0001c0003t0013g0068 a0005c0021t0001g0246	15	272	0.0552	-27	c.133 others(44): Show c.1338-356_1338-330delGGGGCACTGGGATACCGGTGGGGGGGG		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	13/30					INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135798007	CAGCGTGA others(20): Show CAGCGTGACGAAGCAGCCCTAAATTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG03195.hp1 others(6): Show HG01884.hp1 HG02572.hp2 HG03195.hp1 HG03453.hp2 HG03516.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0016	a0001c0001t0027 a0001c0002t0004 a0001c0002t0006 others(5): Show a0001c0001t0027 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0003t0006 a0001c0004t0006 a0001c0009t0006 a0001c0016t0019	a0001c0001t0027g0157 a0001c0002t0004g0257 a0001c0002t0006g0054 others(6): Show a0001c0001t0027g0157 a0001c0002t0004g0257 a0001c0002t0006g0054 a0001c0002t0008g0026 a0001c0003t0006g0023 a0001c0003t0006g0117 a0001c0004t0006g0110 a0001c0009t0006g0159 a0001c0016t0019g0116	9	272	0.0331	-27	c.58 others(38): Show c.5847_*5873delAGCGTGACGAAGCAGCCCTAAATTCTG		KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding					2506		chr9	TogoVar
KCP_chr7_128871865_128915709	128908240	GAAGAAAG others(20): Show GAAGAAAGAAAGAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp2 HG03491.hp1 others(4): Show HG02080.hp2 HG02132.hp2 HG03491.hp1 NA18966.hp2 NA19011.hp2 NA19085.hp2 NA20905.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0003 a0003c0002 a0007c0008 a0002c0003 a0003c0002 a0007c0008	a0002c0003t0002 a0003c0002t0001 a0003c0002t0002 others(1): Show a0002c0003t0002 a0003c0002t0001 a0003c0002t0002 a0007c0008t0001	a0002c0003t0002g0063 a0002c0003t0002g0064 a0003c0002t0001g0066 others(4): Show a0002c0003t0002g0063 a0002c0003t0002g0064 a0003c0002t0001g0066 a0003c0002t0002g0062 a0003c0002t0002g0065 a0003c0002t0002g0067 a0007c0008t0001g0119	7	372	0.0188	-27	c.219 others(42): Show c.219+159_219+185delTCTTTCTTTCTTTCTTCTTTCTTTCTT		KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	2/39						chr7	TogoVar
KCTD10_chr12_109443655_109482300	109461971	CGCTGTGC others(20): Show CGCTGTGCCCTGTTCCACTCCTAACAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(84): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01255.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA18985.hp2 NA18986.hp1 NA18993.hp1 NA18998.hp2 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19074.hp2 NA19075.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 others(10): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0002 a0001c0002t0007 a0001c0002t0021 a0001c0002t0031 a0001c0002t0034 a0001c0002t0035 a0001c0004t0010	a0001c0001t0003g0050 a0001c0001t0009g0019 a0001c0001t0009g0076 others(48): Show a0001c0001t0003g0050 a0001c0001t0009g0019 a0001c0001t0009g0076 a0001c0001t0009g0078 a0001c0001t0009g0080 a0001c0001t0012g0020 a0001c0001t0012g0077 a0001c0001t0012g0098 a0001c0001t0025g0097 a0001c0001t0026g0079 a0001c0001t0027g0096 a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0027 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0007g0018 a0001c0002t0007g0156 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0007g0160 a0001c0002t0007g0161 a0001c0002t0021g0039 a0001c0002t0031g0157 a0001c0002t0034g0175 a0001c0002t0035g0165 a0001c0004t0010g0026 a0001c0004t0010g0162 a0001c0004t0010g0163	87	378	0.2302	-27	c.218 others(44): Show c.218-1193_218-1167delATTGTTAGGAGTGGAACAGGGCACAGC		KCTD10	ENSG00000110906.13	transcript	ENST00000228495.11	protein_coding	2/6						chr12	TogoVar
KCTD16_chr5_144165873_144490686	144299124	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18987.hp1 HG00438.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0002 a0001c0001t0039	a0001c0001t0002g0035 a0001c0001t0039g0156 a0001c0001t0002g0035 a0001c0001t0039g0156	2	156	0.0128	-27	c.832 others(46): Show c.832+91580_832+91606delATATATATATATATATATATATATTT T		KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD18_chr2_200483958_200515068	200510306	CCAAGGGA others(20): Show CCAAGGGACGGTCTTGTGTGTTCAGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	442	0.0023	-27	c.-78 others(36): Show c.-781_-755delCCTCTGAACACACAAGACCGTCCCTTG		KCTD18	ENSG00000155729.13	transcript	ENST00000359878.8	protein_coding					239		chr2	TogoVar
KCTD1_chr18_26449910_26553553	26546916	ACACAGAC others(20): Show ACACAGACTCGTACAGGGCGCGCTTGGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18959.hp1 NA18999.hp2 NA19009.hp1 NA18959.hp1 NA18999.hp2 NA19009.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0297 a0004c0007t0001g0298 a0004c0007t0001g0299 a0004c0007t0001g0297 a0004c0007t0001g0298 a0004c0007t0001g0299	3	338	0.0089	-27	c.159 others(36): Show c.1594_1620delCCCAAGCGCGCCCTGTACGAGTCTGTG	p.Pro others(13): Show p.Pro532_Val540del	KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding	1/5	1637/3448	1594/2598	532/865			chr18	TogoVar

Search by Variant

Search

Search Results (Total: 3848 hits)