Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
JMY_chr5_79231131_79332211	79270523	A A	ATATATTT others(18): Show ATATATTTACATAAATATTTAAAATG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	342	0.0029	25	c.103 others(44): Show c.1033-7321_1033-7297dupATTTAAAATGTATATTTACATAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44134084	T T	TTATAAAT others(18): Show TTATAAATATATATTTATTATAAATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18960.hp1 NA19088.hp2 NA18941.hp1 NA18960.hp1 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0046 a0001c0003t0002 a0001c0003t0046	a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0046g0019 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0046g0019	3	338	0.0089	25	c.117 others(46): Show c.1170-15486_1170-15462dupTATTTATAATAAATATATATTTAT A	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134093	T T	TATATTTA others(18): Show TATATTTATTATAAATATATAAATAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	338	0.0030	25	c.117 others(46): Show c.1170-15495_1170-15471dupTTATTTATATATTTATAATAAATA T	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18960.hp2 NA19002.hp2 NA18747.hp1 NA18960.hp2 NA19002.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0026 a0001c0001 a0009c0026	a0001c0001t0001 a0009c0026t0001 a0001c0001t0001 a0009c0026t0001	a0001c0001t0001g0036 a0001c0001t0001g0265 a0009c0026t0001g0201 a0001c0001t0001g0036 a0001c0001t0001g0265 a0009c0026t0001g0201	3	380	0.0079	25	c.116 others(46): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAAAAAAAAA A	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87700495	C C	CAGAGGGT others(18): Show CAGAGGGTGGAGGGAGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01074.hp2 others(25): Show HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp1 HG03669.hp2 HG03834.hp1 NA18982.hp1 NA19011.hp1 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0012 a0013 a0001 a0012 a0013	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0031 a0001c0038 a0001c0047 a0001c0050 a0012c0049 a0013c0025	a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 others(13): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 a0001c0003t0025 a0001c0003t0030 a0001c0003t0033 a0001c0005t0001 a0001c0007t0001 a0001c0007t0031 a0001c0008t0001 a0001c0031t0001 a0001c0038t0001 a0001c0047t0001 a0001c0050t0001 a0012c0049t0001 a0013c0025t0001	a0001c0001t0001g0241 a0001c0003t0001g0022 a0001c0003t0001g0083 others(25): Show a0001c0001t0001g0241 a0001c0003t0001g0022 a0001c0003t0001g0083 a0001c0003t0001g0131 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0141 a0001c0003t0001g0186 a0001c0003t0001g0248 a0001c0003t0001g0260 a0001c0003t0001g0341 a0001c0003t0001g0348 a0001c0003t0006g0158 a0001c0003t0025g0178 a0001c0003t0030g0217 a0001c0003t0033g0357 a0001c0005t0001g0088 a0001c0007t0001g0140 a0001c0007t0001g0176 a0001c0007t0001g0214 a0001c0007t0031g0345 a0001c0008t0001g0313 a0001c0031t0001g0107 a0001c0038t0001g0069 a0001c0047t0001g0162 a0001c0050t0001g0242 a0012c0049t0001g0340 a0013c0025t0001g0145	28	380	0.0737	25	c.38 others(36): Show c.3835_*3836insAGAGGGTGGAGGGAGGAGGGAGGAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding		2340		chr16	TogoVar
JSRP1_chr19_2247252_2261417	2259312	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	436	0.0023	25	c.-29 others(36): Show c.-2961_-2960insTTTTTTTTTTTTTTTTTTTTTTTTT	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding		2896		chr19	TogoVar
KALRN_chr3_124028369_124731325	124054382	T T	TAAAAATA others(18): Show TAAAAATAAAAATAAAAATAAAAATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20300.hp1 NA18522.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0046 a0002c0053 a0001c0046 a0002c0053	a0001c0046t0002 a0002c0053t0004 a0001c0046t0002 a0002c0053t0004	a0001c0046t0002g0095 a0002c0053t0004g0094 a0001c0046t0002g0095 a0002c0053t0004g0094	2	116	0.0172	25	c.73+ others(42): Show c.73+20573_73+20574insATAAAAATAAAAATAAAAATAAAAA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124152547	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0012 a0001c0041t0012	a0001c0041t0012g0105 a0001c0041t0012g0105	1	116	0.0086	25	c.74- others(42): Show c.74-75434_74-75410dupTCTTTTCTTTTCTTTTCTTTTCTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTGTTTT others(18): Show GTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18955.hp2 NA19004.hp2 HG03688.hp1 NA18955.hp2 NA19004.hp2	a0001 a0001	a0001c0016 a0001c0038 a0001c0050 a0001c0016 a0001c0038 a0001c0050	a0001c0016t0011 a0001c0038t0002 a0001c0050t0005 a0001c0016t0011 a0001c0038t0002 a0001c0050t0005	a0001c0016t0011g0064 a0001c0038t0002g0028 a0001c0050t0005g0042 a0001c0016t0011g0064 a0001c0038t0002g0028 a0001c0050t0005g0042	3	116	0.0259	25	c.566 others(44): Show c.5664+5505_5664+5506insGTTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTTTTTT others(18): Show GTTTTTTTGTTGTTGTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03516.hp1 HG01175.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0024 a0001c0002t0007 a0001c0002t0024	a0001c0002t0007g0020 a0001c0002t0024g0006 a0001c0002t0007g0020 a0001c0002t0024g0006	2	116	0.0172	25	c.566 others(44): Show c.5664+5510_5664+5511insGTTGTTGTTGTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTTTTTT others(18): Show GTTTTTTTTTTGTTGTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 NA18612.hp1 others(4): Show HG02055.hp2 HG02109.hp2 NA18612.hp1 NA18945.hp1 NA18955.hp1 NA19002.hp2 NA19077.hp1	a0001 a0001	a0001c0006 a0001c0009 a0001c0018 others(4): Show a0001c0006 a0001c0009 a0001c0018 a0001c0033 a0001c0036 a0001c0042 a0001c0047	a0001c0006t0001 a0001c0009t0001 a0001c0018t0005 others(4): Show a0001c0006t0001 a0001c0009t0001 a0001c0018t0005 a0001c0033t0001 a0001c0036t0002 a0001c0042t0003 a0001c0047t0009	a0001c0006t0001g0025 a0001c0009t0001g0070 a0001c0018t0005g0009 others(4): Show a0001c0006t0001g0025 a0001c0009t0001g0070 a0001c0018t0005g0009 a0001c0033t0001g0037 a0001c0036t0002g0054 a0001c0042t0003g0108 a0001c0047t0009g0092	7	116	0.0603	25	c.566 others(44): Show c.5664+5513_5664+5514insGTTGTTGTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	598620	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	254	0.0039	25	c.-83 others(44): Show c.-83-78264_-83-78240dupTTTTTTTTTTTTTTTTTTTTTTTTT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02976.hp2 others(1): Show HG02109.hp1 HG02622.hp2 HG02976.hp2 NA19240.hp1	a0006 a0007 a0006 a0007	a0006c0030 a0007c0014 a0007c0028 a0006c0030 a0007c0014 a0007c0028	a0006c0030t0013 a0007c0014t0001 a0007c0028t0001 a0006c0030t0013 a0007c0014t0001 a0007c0028t0001	a0006c0030t0013g0215 a0007c0014t0001g0073 a0007c0028t0001g0074 others(1): Show a0006c0030t0013g0215 a0007c0014t0001g0073 a0007c0028t0001g0074 a0007c0028t0001g0075	4	254	0.0158	25	c.-83 others(42): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAAAAGAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANSL1_chr17_46024916_46198429	46052964	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19002.hp1 HG02523.hp2 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0243 a0002c0003t0003g0289 a0002c0003t0003g0243 a0002c0003t0003g0289	2	321	0.0062	25	c.184 others(44): Show c.1849-2285_1849-2261dupTTTTTTTTTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(18): Show CTTTTTTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	321	0.0031	25	c.129 others(44): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAGAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18955.hp2 NA18962.hp1 others(1): Show HG02071.hp2 NA18955.hp2 NA18962.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0156 others(1): Show a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0002g0188	4	321	0.0125	25	c.129 others(44): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105948	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	321	0.0031	25	c.129 others(46): Show c.1290-11248_1290-11247insTGTGTGTGTGTGTGTGTGTGTGTG T	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46130187	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19085.hp2 HG01361.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0311 a0003c0004t0005g0312	2	321	0.0062	25	c.129 others(46): Show c.1290-35487_1290-35486insTTTTTTTTTTTTTTTTTTTTTTTT T	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	380	0.0026	25	c.37 others(36): Show c.3761_*3762insAAAAATATATATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624134	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	380	0.0026	25	c.37 others(36): Show c.3760_*3761insTATATATATATATATATATATATAT	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3589		chr16	TogoVar
KAT2B_chr3_20035446_20159404	20062025	C C	CATAATAT others(18): Show CATAATATATATTATATATAAAACAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02145.hp2 others(3): Show HG01243.hp2 HG02145.hp1 HG02145.hp2 HG02622.hp2 HG02735.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001	a0001c0001t0001g0128 a0001c0001t0001g0158 a0001c0001t0004g0225 others(3): Show a0001c0001t0001g0128 a0001c0001t0001g0158 a0001c0001t0004g0225 a0001c0002t0001g0358 a0001c0002t0002g0294 a0001c0005t0001g0159	6	374	0.0160	25	c.304 others(44): Show c.304-10240_304-10216dupTAAAACATATAATATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20086825	A A	AGGCTGGA others(18): Show AGGCTGGAGTGCAGTGGCGCAGTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(253): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0002c0003 a0004c0008 a0005c0010 a0006c0011 a0007c0012 a0008c0009 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0005t0001 a0001c0007t0007 a0002c0003t0002 a0002c0003t0003 a0002c0003t0011 a0004c0008t0001 a0005c0010t0001 a0006c0011t0001 a0007c0012t0001 a0008c0009t0002 a0009c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(253): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0355 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0002g0357 a0001c0001t0003g0221 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0004g0009 a0001c0001t0004g0024 a0001c0001t0004g0028 a0001c0001t0004g0041 a0001c0001t0004g0225 a0001c0001t0008g0223 a0001c0001t0008g0350 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0029 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0067 a0001c0002t0001g0073 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0106 a0001c0002t0001g0115 a0001c0002t0001g0127 a0001c0002t0001g0132 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0203 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0002t0001g0250 a0001c0002t0001g0290 a0001c0002t0001g0317 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0345 a0001c0002t0001g0354 a0001c0002t0001g0358 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0038 a0001c0002t0002g0062 a0001c0002t0002g0097 a0001c0002t0002g0129 a0001c0002t0002g0164 a0001c0002t0002g0218 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0316 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0348 a0001c0002t0002g0351 a0001c0002t0002g0359 a0001c0002t0003g0216 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0004g0025 a0001c0002t0004g0157 a0001c0002t0004g0364 a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0017 a0001c0002t0005g0019 a0001c0002t0005g0035 a0001c0002t0005g0036 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0006g0107 a0001c0002t0006g0171 a0001c0002t0006g0220 a0001c0002t0006g0222 a0001c0002t0006g0241 a0001c0002t0006g0263 a0001c0002t0006g0346 a0001c0002t0006g0349 a0001c0002t0006g0360 a0001c0002t0006g0361 a0001c0002t0012g0130 a0001c0004t0001g0074 a0001c0004t0001g0093 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0191 a0001c0004t0001g0194 a0001c0004t0001g0204 a0001c0004t0001g0246 a0001c0004t0001g0276 a0001c0004t0001g0292 a0001c0004t0001g0328 a0001c0004t0003g0170 a0001c0004t0004g0232 a0001c0004t0004g0233 a0001c0004t0007g0175 a0001c0004t0007g0200 a0001c0004t0007g0251 a0001c0004t0007g0252 a0001c0004t0007g0253 a0001c0004t0010g0167 a0001c0005t0001g0018 a0001c0005t0001g0159 a0001c0005t0001g0209 a0001c0005t0001g0315 a0001c0005t0001g0338 a0001c0007t0007g0322 a0001c0007t0007g0323 a0002c0003t0002g0119 a0002c0003t0002g0122 a0002c0003t0003g0015 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0055 a0002c0003t0003g0091 a0002c0003t0003g0116 a0002c0003t0003g0117 a0002c0003t0003g0118 a0002c0003t0003g0120 a0002c0003t0003g0121 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0147 a0002c0003t0003g0163 a0002c0003t0003g0169 a0002c0003t0003g0192 a0002c0003t0003g0205 a0002c0003t0003g0226 a0002c0003t0003g0239 a0002c0003t0003g0244 a0002c0003t0003g0245 a0002c0003t0003g0247 a0002c0003t0003g0248 a0002c0003t0003g0249 a0002c0003t0003g0271 a0002c0003t0003g0275 a0002c0003t0003g0293 a0002c0003t0003g0298 a0002c0003t0003g0314 a0002c0003t0003g0352 a0002c0003t0003g0353 a0002c0003t0003g0356 a0002c0003t0011g0287 a0004c0008t0001g0034 a0005c0010t0001g0368 a0006c0011t0001g0188 a0007c0012t0001g0234 a0008c0009t0002g0242 a0009c0014t0001g0043	256	374	0.6845	25	c.431 others(42): Show c.431-8422_431-8421insCGCAGTCTCGGCTGGAGTGCAGTGG	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 NA19054.hp2 NA19068.hp1 HG01928.hp1 NA19054.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0268 a0001c0001t0002g0286 a0001c0001t0002g0126 a0001c0001t0002g0268 a0001c0001t0002g0286	3	374	0.0080	25	c.230 others(44): Show c.2305+1009_2305+1033dupAAAAAAAAAAAAAAAAAAAAAAAAA	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	296	0.0034	25	c.502 others(42): Show c.502-8422_502-8398dupTTTTTTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149634275	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02630.hp2 others(5): Show HG02257.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02976.hp2 HG03486.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0244 a0001c0001t0001g0245	8	296	0.0270	25	c.163 others(42): Show c.163-1384_163-1360dupATTTTATTTTATTTTATTTTATTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10			chr6	TogoVar
KATNB1_chr16_57730770_57762244	57732694	C C	CCAGAACA others(18): Show CCAGAACAGCCCCCCACAGCAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	402	0.0025	25	c.-34 others(36): Show c.-3428_-3427insCAGAACAGCCCCCCACAGCAAATAA	KATNB1	ENSG00000140854.13	transcript	ENST00000379661.8	protein_coding		3075		chr16	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	146	0.0069	25	c.226 others(44): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTT	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(18): Show GAGAGAGAGAGAGAGAGAGAGAAAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	146	0.0069	25	c.227 others(44): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAAAGAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883343	A A	AGAGGGAG others(18): Show AGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0059 a0002c0004t0024g0059	1	146	0.0069	25	c.227 others(44): Show c.227-77341_227-77340insGAGGGAGGGAGGGAGGGAGGGAGGG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AGAGGGAG others(18): Show AGAGGGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	146	0.0069	25	c.227 others(44): Show c.227-77329_227-77328insGAGGGAGAGAGAGAGAGAGAGAGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	15031553	G G	GTGTGTTG others(18): Show GTGTGTTGTGTTGTGTTGTGTTGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02083.hp1 HG02647.hp1 others(1): Show HG00642.hp1 HG02083.hp1 HG02647.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0025 a0002c0002t0001 a0001c0001t0003 a0001c0001t0025 a0002c0002t0001	a0001c0001t0003g0146 a0001c0001t0025g0093 a0002c0002t0001g0108 others(1): Show a0001c0001t0003g0146 a0001c0001t0025g0093 a0002c0002t0001g0108 a0002c0002t0001g0117	4	146	0.0274	25	c.419 others(42): Show c.419-3173_419-3149dupTGTTGTGTTGTGTTGTGTTGTGTTG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNAB1_chr3_156115578_156543605	156518461	G G	GAAAGAAA others(18): Show GAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19030.hp1 HG01891.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0087 a0001c0003t0001g0018 a0001c0001t0005g0087 a0001c0003t0001g0018	2	124	0.0161	25	c.960 others(42): Show c.960+2119_960+2120insAGAAAAGAAAAGAAAAGAAAAGAAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB1_chr20_49358877_49487668	49396353	G G	GTAAAATA others(18): Show GTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	278	0.0036	25	c.568 others(44): Show c.568-21386_568-21362dupTTTTATTTTATTTTATTTTATTTTA	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01167.hp1 others(9): Show HG00323.hp1 HG01106.hp1 HG01167.hp1 HG02145.hp1 HG02572.hp1 HG02735.hp2 HG02818.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG04184.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(8): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0041 a0001c0001t0075 a0001c0001t0111 a0001c0002t0004 a0001c0002t0023	a0001c0001t0003g0208 a0001c0001t0010g0070 a0001c0001t0010g0078 others(9): Show a0001c0001t0003g0208 a0001c0001t0010g0070 a0001c0001t0010g0078 a0001c0001t0011g0142 a0001c0001t0015g0161 a0001c0001t0018g0019 a0001c0001t0023g0250 a0001c0001t0041g0004 a0001c0001t0075g0015 a0001c0001t0111g0075 a0001c0002t0004g0267 a0001c0002t0023g0269	12	278	0.0432	25	c.568 others(44): Show c.568-50679_568-50678insTATATATATATATATATATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02559.hp2 HG03834.hp2 others(4): Show HG01952.hp1 HG02559.hp2 HG03834.hp2 NA18988.hp2 NA19004.hp2 NA19064.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0281 a0001c0001t0002g0061 a0001c0001t0002g0147 others(4): Show a0001c0001t0001g0281 a0001c0001t0002g0061 a0001c0001t0002g0147 a0001c0001t0002g0192 a0001c0001t0002g0246 a0001c0001t0004g0062 a0001c0002t0002g0012	7	316	0.0222	25	c.687 others(44): Show c.687+68293_687+68317dupTTTTTTTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCND2_chr7_120268175_120755337	120621276	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	80	0.0125	25	c.111 others(48): Show c.1116-111623_1116-111599dupAAAAAAAAAAAAAAAAAAAAAA AAA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNE4_chr2_223047190_223060637	223049803	G G	GTTCTATT others(18): Show GTTCTATTCTATTCTATTCTATTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	358	0.0028	25	c.-24 others(36): Show c.-2495_-2494insTTCTATTCTATTCTATTCTATTCTA	KCNE4	ENSG00000152049.7	transcript	ENST00000281830.4	protein_coding		2386		chr2	TogoVar
KCNE4_chr2_223047190_223060637	223049808	G G	GTTCTATT others(18): Show GTTCTATTCTATTCTATTCTATTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02129.hp2 HG02572.hp1 others(9): Show HG02071.hp2 HG02129.hp2 HG02572.hp1 HG03139.hp1 HG03688.hp1 NA18950.hp2 NA18973.hp1 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19060.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0002c0002t0001 a0002c0002t0003 a0002c0003t0005	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0009g0007 others(3): Show a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0009g0007 a0002c0002t0001g0002 a0002c0002t0003g0005 a0002c0003t0005g0003	12	358	0.0335	25	c.-24 others(36): Show c.-2490_-2489insTTCTATTCTATTCTATTCTATTCTA	KCNE4	ENSG00000152049.7	transcript	ENST00000281830.4	protein_coding		2381		chr2	TogoVar
KCNG1_chr20_50998656_51028107	51021312	C C	CAGGCGAC others(18): Show CAGGCGACTCTGCAGGGCTCCAAAAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	424	0.0024	25	c.-27 others(42): Show c.-27+1533_-27+1557dupCTTTTGGAGCCCTGCAGAGTCGCCT	KCNG1	ENSG00000026559.14	transcript	ENST00000371571.5	protein_coding	1/2			chr20	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0010	1	342	0.0029	25	c.666 others(42): Show c.666-7665_666-7664insATATATATATATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0263 a0001c0001t0012g0007 a0001c0001t0003g0263 a0001c0001t0012g0007	2	342	0.0059	25	c.666 others(42): Show c.666-7665_666-7664insAAATATATATATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210806822	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	164	0.0061	25	c.146 others(44): Show c.1463-2657_1463-2656insATATATATATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806828	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	164	0.0061	25	c.146 others(44): Show c.1463-2663_1463-2662insATATATATATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	164	0.0061	25	c.146 others(44): Show c.1463-2671_1463-2670insATATATATATATATATATATATATT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211050260	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	164	0.0061	25	c.559 others(44): Show c.559-31029_559-31005dupTTTTTTTTTTTTTTTTTTTTTTTTT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853494	A A	ATATGATA others(18): Show ATATGATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03139.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0021 a0001c0001t0006 a0001c0001t0021	a0001c0001t0006g0063 a0001c0001t0021g0066 a0001c0001t0021g0067 a0001c0001t0006g0063 a0001c0001t0021g0066 a0001c0001t0021g0067	3	224	0.0134	25	c.137 others(44): Show c.1370-3643_1370-3642insCATATATATATATATATATATCATA	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63047162	G G	GCCTCCCC others(18): Show GCCTCCCCTCCCCTCCCCTCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03139.hp2 NA18612.hp1 others(1): Show HG02965.hp1 HG03139.hp2 NA18612.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0021 a0001c0001t0001 a0001c0001t0014 a0001c0001t0021	a0001c0001t0001g0136 a0001c0001t0014g0086 a0001c0001t0021g0066 others(1): Show a0001c0001t0001g0136 a0001c0001t0014g0086 a0001c0001t0021g0066 a0001c0001t0021g0067	4	224	0.0179	25	c.-20 others(36): Show c.-2001_-1977dupGGAGGGGAGGGGAGGGGAGGGGAGG	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding		1705		chr14	TogoVar
KCNH6_chr17_63518358_63551727	63523003	A A	AGCCCCGC others(18): Show AGCCCCGCCCCGCCCCGCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0124 a0006c0011t0004g0124	1	324	0.0031	25	c.-41 others(34): Show c.-411_-410insGCCCCGCCCCGCCCCGCCCCGCCCC	KCNH6	ENSG00000173826.15	transcript	ENST00000314672.10	protein_coding		354		chr17	TogoVar
KCNH7_chr2_162366407_162843767	162429383	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp2 HG03041.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0015 a0001c0001t0001g0058	2	100	0.0200	25	c.195 others(44): Show c.1954+5814_1954+5815insAAAAAAAAAAAAAAAAAAAAAAAAA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	8/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162741330	T T	TGTTATTA others(18): Show TGTTATTAATTATACATATTAATAAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	100	0.0100	25	c.307 others(44): Show c.307+95206_307+95207insGTTATTAATATGTATAATTAATAAC	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar

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