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	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
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(20): Show CTTTTTTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	321	0.0031	27	c.129 others(46): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAGAAAAAAA A		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	321	0.0031	27	c.129 others(46): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA A		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14						chr17	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	380	0.0026	27	c.37 others(38): Show c.3761_*3762insAAAAAAATATATATATATATATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	380	0.0026	27	c.37 others(38): Show c.3761_*3762insAAAAAAAAATATATATATATATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	380	0.0026	27	c.37 others(38): Show c.3761_*3762insAAAAAAAAAAATATATATATATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624134	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02723.hp2 HG01106.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0226 a0001c0001t0001g0227	2	380	0.0053	27	c.37 others(38): Show c.3760_*3761insTATATATATATATATATATATATATAT		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3589		chr16	TogoVar
KAT14_chr20_18132863_18193035	18177135	C C	CTGATTCT others(20): Show CTGATTCTGTGGATTGACTGGGCACTGT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0212 a0001c0004t0003g0212	1	346	0.0029	27	c.166 others(46): Show c.1669-4572_1669-4546dupATTCTGTGGATTGACTGGGCACTGTT G		KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr20	TogoVar
KAT2B_chr3_20035446_20159404	20092235	A A	ATTTATTT others(20): Show ATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0252 a0001c0004t0007g0252	1	374	0.0027	27	c.431 others(44): Show c.431-3017_431-3016insATTTATTTATTTATTTTTTATTTATTT		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0296 a0001c0002t0002g0296	1	374	0.0027	27	c.230 others(46): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA A		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18995.hp1 HG02040.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0056 a0001c0001t0001g0082	2	296	0.0068	27	c.502 others(44): Show c.502-8424_502-8398dupTTTTTTTTTTTTTTTTTTTTTTTTTTT		KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10						chr6	TogoVar
KATNBL1_chr15_34135674_34215096	34195690	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp2 HG06807.hp1 HG02572.hp2 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0033 a0001c0001t0002g0340 a0001c0001t0004g0235 a0001c0001t0002g0033 a0001c0001t0002g0340 a0001c0001t0004g0235	3	344	0.0087	27	c.-15 others(46): Show c.-15+14260_-15+14261insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9						chr15	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01258.hp1 others(8): Show HG00099.hp1 HG00323.hp1 HG01258.hp1 HG02004.hp1 HG02273.hp2 HG02572.hp2 HG02717.hp2 HG02809.hp2 HG03017.hp1 NA19056.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0003t0018 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0003t0018 a0002c0002t0001 a0002c0006t0006	a0001c0001t0002g0060 a0001c0001t0002g0122 a0001c0001t0002g0137 others(8): Show a0001c0001t0002g0060 a0001c0001t0002g0122 a0001c0001t0002g0137 a0001c0003t0018g0123 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0085 a0002c0006t0006g0012 a0002c0006t0006g0112	11	146	0.0753	27	c.226 others(46): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883318	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	146	0.0069	27	c.227 others(46): Show c.227-77366_227-77365insGAGAGAGAGAGAGAGAGAGAGAGAGA G		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14						chr1	TogoVar
KAZN_chr1_14593685_15123043	14883342	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0072 a0002c0002t0007g0072	1	146	0.0069	27	c.227 others(46): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAAAGA A		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15112587	A A	AAGGTCTT others(20): Show AAGGTCTTTTTTTTCTTCTCCCAGCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(66): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00642.hp2 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp2 HG03927.hp1 HG03927.hp2 NA18906.hp2 NA18963.hp1 NA18971.hp1 NA18971.hp2 NA18986.hp1 NA19005.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0003c0005 a0003c0010 a0003c0017 a0005c0016 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0003t0002 a0001c0003t0004 a0001c0008t0009 a0001c0012t0006 a0003c0005t0002 a0003c0005t0011 a0003c0010t0002 a0003c0017t0002 a0005c0016t0002 a0008c0011t0026	a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0067 others(66): Show a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0060 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0003g0005 a0001c0001t0003g0018 a0001c0001t0003g0050 a0001c0001t0003g0056 a0001c0001t0003g0088 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0146 a0001c0001t0004g0009 a0001c0001t0004g0044 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0007g0021 a0001c0001t0007g0087 a0001c0001t0007g0111 a0001c0001t0009g0033 a0001c0001t0009g0115 a0001c0001t0011g0118 a0001c0001t0015g0080 a0001c0001t0016g0096 a0001c0001t0017g0023 a0001c0001t0019g0029 a0001c0001t0020g0045 a0001c0001t0023g0127 a0001c0001t0025g0093 a0001c0001t0027g0016 a0001c0003t0002g0002 a0001c0003t0002g0082 a0001c0003t0004g0094 a0001c0003t0004g0125 a0001c0003t0004g0141 a0001c0008t0009g0120 a0001c0012t0006g0069 a0003c0005t0002g0074 a0003c0005t0002g0091 a0003c0005t0002g0100 a0003c0005t0011g0119 a0003c0010t0002g0066 a0003c0017t0002g0019 a0005c0016t0002g0022 a0008c0011t0026g0132	69	146	0.4726	27	c.216 others(42): Show c.2163+58_2163+59insTCTTCTCCCAGCGGCAGGTCTTTTTTT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1969172	A A	ATATATTT others(20): Show ATATATTTATAAATTTATATATAAAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	389	0.0026	27	c.-56 others(38): Show c.-5672_-5671insTATATTTATAAATTTATATATAAAATC		KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding					4504		chr8	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(20): Show GCCGCCCCCGCCGCCCCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19078.hp2 NA19003.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0098 a0001c0001t0003g0099	2	434	0.0046	27	c.-69 others(36): Show c.-691_-690insGGGCGGGGGCGGGGGCGGCGGGGGCGG		KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding					128		chr7	TogoVar
KCNAB1_chr3_156115578_156543605	156156284	G G	GTGTAGGC others(20): Show GTGTAGGCCTACACATTGTGTAGGCCTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02129.hp1 HG02559.hp2 HG01175.hp1 HG02129.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0008 a0001c0007t0009 a0001c0001t0001 a0001c0002t0008 a0001c0007t0009	a0001c0001t0001g0121 a0001c0002t0008g0001 a0001c0007t0009g0119 a0001c0001t0001g0121 a0001c0002t0008g0001 a0001c0007t0009g0119	3	124	0.0242	27	c.275 others(46): Show c.275+35399_275+35400insGTAGGCCTACACATTGTGTAGGCCTA T		KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01433.hp2 HG02622.hp2 others(5): Show HG01074.hp1 HG01433.hp2 HG02622.hp2 HG03139.hp1 HG03579.hp2 NA18985.hp1 NA19030.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0054 a0001c0001t0062 others(4): Show a0001c0001t0013 a0001c0001t0054 a0001c0001t0062 a0001c0001t0065 a0001c0001t0077 a0001c0001t0096 a0001c0002t0016	a0001c0001t0013g0121 a0001c0001t0013g0253 a0001c0001t0054g0101 others(5): Show a0001c0001t0013g0121 a0001c0001t0013g0253 a0001c0001t0054g0101 a0001c0001t0062g0119 a0001c0001t0065g0199 a0001c0001t0077g0125 a0001c0001t0096g0065 a0001c0002t0016g0270	8	278	0.0288	27	c.568 others(46): Show c.568-50679_568-50678insTATATATATATATATATATATATATA T		KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1						chr20	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp2 HG01978.hp1 others(4): Show HG00280.hp2 HG01884.hp2 HG01978.hp1 HG02071.hp2 HG02148.hp1 HG02300.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0002t0002	a0001c0001t0002g0048 a0001c0001t0002g0212 a0001c0001t0002g0252 others(4): Show a0001c0001t0002g0048 a0001c0001t0002g0212 a0001c0001t0002g0252 a0001c0001t0004g0044 a0001c0001t0020g0311 a0001c0002t0002g0014 a0001c0002t0002g0015	7	316	0.0222	27	c.687 others(46): Show c.687+68291_687+68317dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4						chr12	TogoVar
KCNH1_chr1_210673314_211139148	210806824	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	164	0.0061	27	c.146 others(46): Show c.1463-2659_1463-2658insATATATATATATATATATATATATAT A		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10						chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853460	T T	TATATATA others(20): Show TATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01109.hp2 HG01433.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0028 a0002c0002t0003g0116 a0001c0001t0005g0028 a0002c0002t0003g0116	2	224	0.0089	27	c.137 others(46): Show c.1370-3609_1370-3608insGATATATATATATATATATATATATA T		KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10						chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853494	A A	ATATATGA others(20): Show ATATATGATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	224	0.0045	27	c.137 others(46): Show c.1370-3643_1370-3642insCATATATATATATATATATATCATAT A		KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10						chr14	TogoVar
KCNH7_chr2_162366407_162843767	162741243	T T	TATGTTAT others(20): Show TATGTTATTAGTTATACATATTAATAAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	100	0.0100	27	c.307 others(46): Show c.307+95267_307+95293dupGTTATTAATATGTATAACTAATAACA T		KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15						chr2	TogoVar
KCNH8_chr3_19143510_19540642	19180235	G G	GTTCAAAG others(20): Show GTTCAAAGGGCCAAGACAGACTTGGCCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	134	0.0075	27	c.76+ others(44): Show c.76+31484_76+31510dupAGACTTGGCCCTTCAAAGGGCCAAGAC		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170568648	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp2 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0055 a0001c0001t0001g0019 a0001c0001t0002g0055	2	218	0.0092	27	c.61+ others(44): Show c.61+64040_61+64041insAAAAAAAAAAAAAAAAAAAAAAAAAAA		KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP1_chr5_170499020_170741632	170633715	G G	GGGGGCGG others(20): Show GGGGGCGGGGGGGGGACGGAGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	218	0.0046	27	c.62- others(44): Show c.62-85039_62-85038insCGGGGGGGGGACGGAGGGGGGGCGGGG		KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	20988000	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	80	0.0125	27	c.62- others(46): Show c.62-105292_62-105291insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21147939	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0077 a0001c0001t0014g0077	1	80	0.0125	27	c.62- others(46): Show c.62-265231_62-265230insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21147962	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	80	0.0125	27	c.62- others(46): Show c.62-265254_62-265253insCTTTTTTTTTTTTTTTTTTTTTTTTT T		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21320964	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02145.hp2 HG02809.hp2 others(1): Show HG01517.hp2 HG02145.hp2 HG02809.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0017 a0001c0001t0011g0003 a0001c0002t0001g0006 others(1): Show a0001c0001t0001g0017 a0001c0001t0011g0003 a0001c0002t0001g0006 a0001c0002t0003g0008	4	80	0.0500	27	c.62- others(46): Show c.62-438256_62-438255insTTTTTTTTTTTTTTTTTTTTTTTTTT T		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160048227	G G	GGCCCCCC others(20): Show GGCCCCCCTGAGGGCTGCAGTTTTATCT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	408	0.0025	27	c.1-5 others(40): Show c.1-5696_1-5695insAGATAAAACTGCAGCCCTCAGGGGGGC		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ18_chr17_21687523_21709612	21701525	A A	ATGTGGGT others(20): Show ATGTGGGTGGACACTGTAGAGTGGGGCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG01517.hp2 others(40): Show HG01167.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG02300.hp1 HG02897.hp1 HG02976.hp2 HG03239.hp1 NA18941.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp1 NA19077.hp1 NA19081.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2	a0002 a0010 a0011 others(2): Show a0002 a0010 a0011 a0012 a0013	a0002c0002 a0002c0005 a0010c0010 others(3): Show a0002c0002 a0002c0005 a0010c0010 a0011c0007 a0012c0008 a0013c0009	a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0012 a0002c0005t0005 a0002c0005t0006 a0002c0005t0007 a0010c0010t0009 a0011c0007t0002 a0012c0008t0002 a0013c0009t0005	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 others(26): Show a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0030 a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0026 a0002c0002t0003g0029 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0008g0028 a0002c0002t0012g0054 a0002c0005t0005g0008 a0002c0005t0005g0014 a0002c0005t0005g0034 a0002c0005t0006g0019 a0002c0005t0006g0033 a0002c0005t0007g0035 a0010c0010t0009g0018 a0011c0007t0002g0003 a0012c0008t0002g0022 a0013c0009t0005g0008	43	112	0.3839	27	c.-56 others(44): Show c.-56-1198_-56-1197insGACACTGTAGAGTGGGGCGTGTGGGTG		KCNJ18	ENSG00000260458.3	transcript	ENST00000567955.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNJ4_chr22_38421327_38460199	38432280	T T	TAAATAAA others(20): Show TAAATAAATAAATAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	380	0.0026	27	c.-39 others(44): Show c.-39-4110_-39-4109insTATTTTATTTTATTTATTTATTTATTT		KCNJ4	ENSG00000168135.4	transcript	ENST00000303592.3	protein_coding	1/1						chr22	TogoVar
KCNK13_chr14_90056994_90190853	90101790	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	320	0.0031	27	c.334 others(46): Show c.334+39273_334+39274insAAAAAAAAAAAAAAAAAAAAAAAAAA A		KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK13_chr14_90056994_90190853	90143176	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp1 NA18940.hp2 others(2): Show HG00673.hp1 HG02071.hp1 NA18940.hp2 NA18960.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0087 a0001c0001t0001g0301 others(2): Show a0001c0001t0001g0014 a0001c0001t0001g0087 a0001c0001t0001g0301 a0001c0001t0002g0012 a0001c0001t0002g0307	5	320	0.0156	27	c.335 others(46): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTCT T		KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK18_chr10_117192489_117215299	117192734	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18960.hp2 NA18975.hp2 others(3): Show NA18951.hp2 NA18960.hp2 NA18975.hp2 NA18983.hp1 NA19070.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0003 a0003c0003t0000g0047 a0003c0003t0000g0119 a0003c0003t0000g0003 a0003c0003t0000g0047 a0003c0003t0000g0119	6	430	0.0140	27	c.-47 others(38): Show c.-4755_-4754insTTTTTTTTTTTTTTTTTTTTTTTTTTT		KCNK18	ENSG00000186795.1	transcript	ENST00000334549.1	protein_coding					4754		chr10	TogoVar
KCNK1_chr1_233609106_233677514	233628760	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01175.hp2 others(8): Show HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01891.hp1 HG02109.hp1 HG02258.hp2 HG02572.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0171 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0002g0327 a0001c0001t0003g0118 a0001c0001t0003g0140 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0007g0183	11	422	0.0261	27	c.355 others(46): Show c.355+14257_355+14258insTAATAATAATAATAATAATAATAATA A		KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209484	A A	ATAATATA others(20): Show ATAATATAATATATATTATATATATAAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA19086.hp2 HG03654.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0065 a0001c0003t0019 a0001c0001t0065 a0001c0003t0019	a0001c0001t0065g0160 a0001c0003t0019g0001 a0001c0001t0065g0160 a0001c0003t0019g0001	2	260	0.0077	27	c.963 others(46): Show c.963+14392_963+14393insTAATATAATATATATTATATATATAA T		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6						chr1	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0086 a0001c0001t0007g0086	1	432	0.0023	27	c.-12 others(38): Show c.-1284_-1283insATATATATTTTTTTTTTTTTTTTTTTT		KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding					1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0181 a0003c0003t0008g0181	1	432	0.0023	27	c.-12 others(38): Show c.-1284_-1283insATATATATATATATTTTTTTTTTTTTT		KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding					1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0194 a0001c0001t0082g0194	1	432	0.0023	27	c.-12 others(38): Show c.-1284_-1283insATATATATATATATATATTTTTTTTTT		KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding					1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18988.hp2 NA18974.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0089 a0001c0001t0032 a0001c0001t0089	a0001c0001t0032g0098 a0001c0001t0089g0198 a0001c0001t0032g0098 a0001c0001t0089g0198	2	432	0.0046	27	c.-12 others(38): Show c.-1284_-1283insATATATATATATATATATATATTTTTT		KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding					1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA19068.hp1 NA18980.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0001 a0001c0001t0017g0170 a0001c0001t0001g0001 a0001c0001t0017g0170	2	432	0.0046	27	c.-12 others(38): Show c.-1284_-1283insATATATATATATATATATATATATATT		KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding					1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03453.hp1 NA18984.hp1 HG02622.hp2 HG03453.hp1 NA18984.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0007 a0001c0001t0014 a0004c0004t0030 a0001c0001t0007 a0001c0001t0014 a0004c0004t0030	a0001c0001t0007g0048 a0001c0001t0014g0012 a0004c0004t0030g0164 a0001c0001t0007g0048 a0001c0001t0014g0012 a0004c0004t0030g0164	3	432	0.0069	27	c.-12 others(38): Show c.-1284_-1283insATATATATATATATATATATATATATA		KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding					1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178691107	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0018 a0001c0002t0008g0018	1	232	0.0043	27	c.-67 others(48): Show c.-67-116216_-67-116215insTTTTTTTTTTTTTTTTTTTTTTTT TTT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758933	T T	TATATATA others(20): Show TATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG03225.hp2 HG02572.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0105 a0001c0001t0002g0087 a0001c0001t0003g0086 a0001c0001t0001g0105 a0001c0001t0002g0087 a0001c0001t0003g0086	3	232	0.0129	27	c.-67 others(46): Show c.-67-48394_-67-48393insCTCCAAGAGGGATATATATATATATA T		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759212	A A	ACACACAC others(20): Show ACACACACACAAGAGGTGATATATATAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01515.hp1 HG03017.hp2 others(1): Show HG01069.hp2 HG01515.hp1 HG03017.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0177 others(1): Show a0001c0001t0003g0122 a0001c0001t0003g0130 a0001c0001t0003g0177 a0001c0002t0001g0121	4	232	0.0172	27	c.-67 others(46): Show c.-67-48131_-67-48130insCACACACACAAGAGGTGATATATATA C		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4						chr3	TogoVar
KCNN3_chr1_154692455_154875281	154869723	G G	GGCTGCTG others(20): Show GGCTGCTGCTGCTGCTGCTGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02055.hp2 HG02683.hp1 HG02976.hp2 others(1): Show HG02055.hp2 HG02683.hp1 HG02976.hp2 NA19060.hp1	a0011 a0011	a0011c0024 a0011c0025 a0011c0024 a0011c0025	a0011c0024t0068 a0011c0024t0121 a0011c0025t0011 others(1): Show a0011c0024t0068 a0011c0024t0121 a0011c0025t0011 a0011c0025t0103	a0011c0024t0068g0010 a0011c0024t0121g0237 a0011c0025t0011g0011 others(1): Show a0011c0024t0068g0010 a0011c0024t0121g0237 a0011c0025t0011g0011 a0011c0025t0103g0009	4	238	0.0168	27	c.215 others(34): Show c.215_241dupAGCAGCAGCAGCAGCAGCAGCAGCAGC	p.Gln others(11): Show p.Gln72_Gln80dup	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	1/8	558/13034	241/2196	81/731			chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442767	T T	TCACCACC others(20): Show TCACCACCATCACCATCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0286 a0001c0003t0003g0286	1	330	0.0030	27	c.691 others(42): Show c.691-237_691-236insGTGGTGGTGGTGATGGTGATGGTGGTG		KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16						chr20	TogoVar

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Search Results (Total: 7463 hits)