Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18944.hp2 NA19003.hp1 others(1): Show HG03453.hp1 NA18944.hp2 NA19003.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0068 others(1): Show a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0002t0004g0106	4	49	0.0816	32	c.290 others(51): Show c.2902+3754_2902+3755insTCTTTCTTTCTTTCTTCCTTCCTTCC TTCCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76969300	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp2 HG02615.hp1 others(10): Show HG02027.hp2 HG02080.hp2 HG02615.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03516.hp2 HG03540.hp2 HG03704.hp2 NA19003.hp2 NA19010.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0004t0003	a0001c0001t0002g0017 a0001c0001t0002g0069 a0001c0001t0002g0085 others(10): Show a0001c0001t0002g0017 a0001c0001t0002g0069 a0001c0001t0002g0085 a0001c0001t0003g0029 a0001c0001t0004g0097 a0001c0002t0001g0070 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0003g0019 a0001c0002t0003g0040 a0001c0002t0004g0105 a0001c0002t0004g0106 a0001c0004t0003g0021	13	27	0.4815	32	c.236 others(49): Show c.2360+673_2360+674insTTCCTTCCTTCCTTCCTCCCTTCCTTCC TTCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	20/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572569	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01081.hp2 HG00280.hp1 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0067 a0001c0002t0003g0003 a0001c0002t0003g0067	2	21	0.0952	32	c.378 others(51): Show c.378+64664_378+64695dupATATATATATATATATATATATATAT ATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572603	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	98	0.0102	32	c.378 others(51): Show c.378+64661_378+64662insTTATATATATATATATATATATATAT ATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170390513	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG02148.hp2 others(1): Show HG01257.hp2 HG01261.hp2 HG02148.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0001c0001t0014 a0003c0003t0003 a0001c0001t0006 a0001c0001t0014 a0003c0003t0003	a0001c0001t0006g0005 a0001c0001t0014g0012 a0003c0003t0003g0117 a0001c0001t0006g0005 a0001c0001t0014g0012 a0003c0003t0003g0117	4	363	0.0110	32	c.-12 others(43): Show c.-1280_-1279insATATATATATATATATATATATATATATATTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1147		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	222	0.0045	32	c.-12 others(43): Show c.-1284_-1283insATATATATATATATATATATTTTTTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0017 a0001c0001t0013g0017	1	222	0.0045	32	c.-12 others(43): Show c.-1284_-1283insATATATATATATATATATATATATATATTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	222	0.0045	32	c.-12 others(43): Show c.-1284_-1283insATATATATATATATATATATATATATATATTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 NA20129.hp1 HG02886.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0036 a0001c0001t0007 a0002c0002t0036	a0001c0001t0007g0048 a0002c0002t0036g0044 a0001c0001t0007g0048 a0002c0002t0036g0044	2	223	0.0090	32	c.-12 others(43): Show c.-1284_-1283insATATATATATATATATATATATATATATATAT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178757471	G G	GATATATA others(25): Show GATATATATATATGTATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02630.hp2 HG01169.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0083 a0001c0002t0001g0143 a0001c0001t0003g0083 a0001c0002t0001g0143	2	179	0.0112	32	c.-67 others(51): Show c.-67-49829_-67-49798dupATGTATATATATCCAAGAGGATATAT ATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757623	G G	GATATATA others(25): Show GATATATATATATGTATATATATCCAAGAGGAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	187	0.0053	32	c.-67 others(51): Show c.-67-49710_-67-49709insATGTATATATATCCAAGAGGATATAT ATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758353	T T	TATATATA others(25): Show TATATATATATATATATATATATCTCCAAGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp1 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0010 a0001c0001t0002g0034	2	221	0.0090	32	c.-67 others(51): Show c.-67-48972_-67-48971insATATCTCCAAGGGGATATATATATAT ATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758389	T T	TATATATA others(25): Show TATATATATATATATATATATATCCAAGAGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	230	0.0043	32	c.-67 others(51): Show c.-67-48932_-67-48931insCCAAGAGGGGATATATATATATATAT ATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760220	C C	CTATATAT others(25): Show CTATATATAGATATATCCAAGAGGATATATCTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02145.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0227 a0001c0004t0001g0084 a0001c0001t0003g0227 a0001c0004t0001g0084	2	185	0.0108	32	c.-67 others(51): Show c.-67-47116_-67-47085dupTAGATATATCCAAGAGGATATATCTA TATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178760349	C C	CATATATA others(25): Show CATATATATATCCATATCCAAGATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0218 a0001c0001t0005g0003 a0001c0001t0003g0218 a0001c0001t0005g0003	2	196	0.0102	32	c.-67 others(51): Show c.-67-46898_-67-46867dupTATATATATATCCATATCCAAGATAT ATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178778460	A A	ACACGCAC others(25): Show ACACGCACGCACGTGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG01358.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0126 a0001c0001t0003g0130	2	224	0.0089	32	c.-67 others(51): Show c.-67-28880_-67-28879insGCACGCACGTGCGCGCGCGCGCGCGC GCGCAC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178817218	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03491.hp2 NA19003.hp2 others(1): Show HG00642.hp2 HG03491.hp2 NA19003.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0017 a0001c0001t0003g0027 a0001c0001t0003g0029 others(1): Show a0001c0001t0002g0017 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0031	4	155	0.0258	32	c.57- others(47): Show c.57-8361_57-8360insTATATATATATATATATATATACATATATA TA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01978.hp2 HG02293.hp1 others(4): Show HG01099.hp1 HG01978.hp2 HG02293.hp1 HG03491.hp1 HG04204.hp1 NA18946.hp2 NA18997.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0054 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0154	7	83	0.0843	32	c.121 others(51): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114379422	A A	AATATTAT others(25): Show AATATTATATAACATATTATATATTTATAGAAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG04199.hp1 HG02132.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0150 a0002c0002t0001g0115 a0002c0002t0001g0150	2	226	0.0088	32	c.121 others(53): Show c.1218+15510_1218+15541dupTATAGAATATATTATATAACATAT TATATATT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154756160	A A	AAGAAGAA others(25): Show AAGAAGAAGAGAAGAAGAGAAGAAGAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	186	0.0054	32	c.144 others(53): Show c.1448+15814_1448+15815insCTTCTTCTCTTCTTCTCTTCTTCT CTTCTTCT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG02723.hp2 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0027 a0003c0003 a0003c0027	a0003c0003t0110 a0003c0027t0007 a0003c0003t0110 a0003c0027t0007	a0003c0003t0110g0232 a0003c0027t0007g0173 a0003c0003t0110g0232 a0003c0027t0007g0173	2	4	0.5000	32	c.144 others(51): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATATA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTTTATAT others(25): Show TTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01975.hp2 HG01515.hp1 HG01975.hp2	a0001 a0008 a0001 a0008	a0001c0008 a0008c0016 a0001c0008 a0008c0016	a0001c0008t0080 a0008c0016t0007 a0001c0008t0080 a0008c0016t0007	a0001c0008t0080g0117 a0008c0016t0007g0210 a0001c0008t0080g0117 a0008c0016t0007g0210	2	4	0.5000	32	c.144 others(51): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TATAAA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(25): Show ACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0035	1	58	0.0172	32	c.151 others(53): Show c.1515-35029_1515-35028insACACACACACACACACACTCTCTC TCTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(25): Show ACACACACACACACACTCTCTCTCTCACTCTCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	58	0.0172	32	c.151 others(53): Show c.1515-35029_1515-35028insACACACACACACACTCTCTCTCTC ACTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(25): Show ACACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	58	0.0172	32	c.151 others(53): Show c.1515-35029_1515-35028insACACACACACACACTCTCTCTCTC TCTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ3_chr8_132115861_132486095	132230449	C C	CAGAGAGA others(25): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp1 HG02818.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0044 a0001c0001t0023 a0001c0001t0044	a0001c0001t0023g0069 a0001c0001t0044g0038 a0001c0001t0023g0069 a0001c0001t0044g0038	2	67	0.0299	32	c.387 others(51): Show c.387-44269_387-44268insCTGTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132293999	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTTTTTTTTTTGTTGTTGTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0041 a0001c0001t0019g0041	1	167	0.0060	32	c.387 others(53): Show c.387-107819_387-107818insAAACAACAACAAAAAAAAAACACA CACACACA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132303565	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01361.hp1 others(25): Show HG01109.hp2 HG01167.hp2 HG01361.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG02922.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03704.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA19012.hp1 NA19065.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(23): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0035 a0001c0001t0036 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0079 a0001c0001t0087 a0001c0001t0097 a0001c0001t0103 a0001c0001t0111 a0001c0001t0112 a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0002c0002t0015	a0001c0001t0003g0153 a0001c0001t0005g0112 a0001c0001t0009g0012 others(25): Show a0001c0001t0003g0153 a0001c0001t0005g0112 a0001c0001t0009g0012 a0001c0001t0010g0036 a0001c0001t0011g0026 a0001c0001t0013g0059 a0001c0001t0016g0137 a0001c0001t0022g0091 a0001c0001t0023g0078 a0001c0001t0024g0092 a0001c0001t0025g0081 a0001c0001t0025g0100 a0001c0001t0035g0037 a0001c0001t0036g0032 a0001c0001t0045g0039 a0001c0001t0049g0040 a0001c0001t0050g0042 a0001c0001t0079g0106 a0001c0001t0087g0130 a0001c0001t0097g0149 a0001c0001t0103g0151 a0001c0001t0111g0175 a0001c0001t0112g0167 a0002c0002t0002g0123 a0002c0002t0005g0127 a0002c0002t0009g0005 a0002c0002t0015g0105 a0002c0002t0015g0116	28	61	0.4590	32	c.387 others(53): Show c.387-117385_387-117384insATATATATATATATATATATATAT ATATATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0168 a0001c0001t0031g0168	1	2	0.5000	32	c.386 others(51): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ4_chr1_40778787_40845452	40814046	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	138	0.0072	32	c.315 others(49): Show c.315-3195_315-3194insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	KCNQ4	ENSG00000117013.17	transcript	ENST00000347132.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02895.hp1 others(4): Show HG02622.hp1 HG02809.hp1 HG02895.hp1 HG03098.hp2 HG06807.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0002t0003 a0001c0002t0011 a0001c0007t0019 a0001c0009t0014	a0001c0001t0003g0069 a0001c0001t0008g0018 a0001c0001t0009g0024 others(4): Show a0001c0001t0003g0069 a0001c0001t0008g0018 a0001c0001t0009g0024 a0001c0002t0003g0064 a0001c0002t0011g0053 a0001c0007t0019g0001 a0001c0009t0014g0031	7	27	0.2593	32	c.399 others(53): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	72900485	A A	ATATATAT others(25): Show ATATATATATACTCCATCATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp1 HG02055.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0034 a0001c0001t0008g0032 a0001c0001t0004g0034 a0001c0001t0008g0032	2	78	0.0256	32	c.399 others(53): Show c.399-103411_399-103380dupTCCATCATATATATATATATTTAT ATATATAC	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNS3_chr2_17873667_17937958	17887484	G G	GATCTATC others(25): Show GATCTATCTATCTATCTATCCATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0039 a0001c0001t0008g0039	1	72	0.0139	32	c.-25 others(51): Show c.-252+8697_-252+8698insCATCTATCTATCTATCTATCTATCTA TCTATC	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATAGAGA others(25): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0051 a0001c0026t0001g0051	1	50	0.0200	32	c.254 others(51): Show c.254+17272_254+17273insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(25): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02723.hp2 HG06807.hp1 others(1): Show HG00738.hp1 HG02723.hp2 HG06807.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0001c0016t0019	a0001c0001t0001g0136 a0001c0001t0007g0030 a0001c0002t0003g0105 others(1): Show a0001c0001t0001g0136 a0001c0001t0007g0030 a0001c0002t0003g0105 a0001c0016t0019g0116	4	53	0.0755	32	c.254 others(51): Show c.254+17272_254+17273insTATATAGAGAGAGAGAGAGAGAGAGA GAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	50	0.0200	32	c.254 others(51): Show c.254+17272_254+17273insTATATATATATAGAGAGAGAGAGAGA GAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0081 a0001c0002t0005g0081	1	50	0.0200	32	c.254 others(51): Show c.254+17272_254+17273insTATATATATATATAGAGAGAGAGAGA GAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135732024	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0265 a0001c0001t0042g0265	1	137	0.0073	32	c.254 others(51): Show c.254+17321_254+17322insAGAGAGAGAGAGAGGGAGAGAGAGAG AGAGAG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135768422	T T	TCCCGCCT others(25): Show TCCCGCCTTCCATCCTCCCCGCCTTCCATCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0010 a0001c0006t0010g0010	1	256	0.0039	32	c.133 others(49): Show c.1338-187_1338-156dupCCCGCCTTCCATCCTCCCCGCCTTCCAT CCTC	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	13/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01981.hp2 HG00639.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0011 a0001c0001t0001g0049	2	30	0.0667	32	c.269 others(51): Show c.2697+1408_2697+1409insATATATATATATATATATTTTTTTTT TTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	29	0.0345	32	c.269 others(51): Show c.2697+1408_2697+1409insATATATATATATATATATATTTTTTT TTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19062.hp1 HG00323.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0048 a0001c0001t0001g0072	2	30	0.0667	32	c.269 others(51): Show c.2697+1408_2697+1409insATATATATATATATATATATATTTTT TTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	29	0.0345	32	c.269 others(51): Show c.2697+1408_2697+1409insATATATATATATATATATATATATTT TTTTTT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNV2_chr9_2712510_2735037	2722390	T T	TTAGAAGT others(25): Show TTAGAAGTTATTTATAAATAAGTTATTTATAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19088.hp2 NA18953.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0010 a0001c0003t0003g0060 a0001c0002t0002g0010 a0001c0003t0003g0060	2	375	0.0053	32	c.135 others(51): Show c.1356+3394_1356+3425dupGAAGTTATTTATAAATAAGTTATTTA TAAATA	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCP_chr7_128871865_128915709	128908251	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18953.hp2 NA19240.hp1 HG02055.hp2 NA18953.hp2 NA19240.hp1	a0004 a0005 a0032 a0004 a0005 a0032	a0004c0004 a0005c0005 a0032c0061 a0004c0004 a0005c0005 a0032c0061	a0004c0004t0002 a0005c0005t0001 a0032c0061t0002 a0004c0004t0002 a0005c0005t0001 a0032c0061t0002	a0004c0004t0002g0276 a0005c0005t0001g0131 a0032c0061t0002g0145 a0004c0004t0002g0276 a0005c0005t0001g0131 a0032c0061t0002g0145	3	128	0.0234	32	c.219 others(47): Show c.219+143_219+174dupTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	2/39			chr7	TogoVar
KCTD16_chr5_144165873_144490686	144452146	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp1 HG03516.hp2 HG02818.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0061 a0001c0001t0007 a0001c0001t0061	a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0061g0006 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0061g0006	3	133	0.0226	32	c.833 others(51): Show c.833-21495_833-21494insATATATATATATATATATATATATAT ATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD20_chr6_36438000_36496141	36448015	G G	GTGTATGT others(25): Show GTGTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02896.hp1 others(1): Show HG02055.hp2 HG02622.hp1 HG02896.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0009 a0002c0002t0016 a0002c0002t0002 a0002c0002t0009 a0002c0002t0016	a0002c0002t0002g0034 a0002c0002t0009g0037 a0002c0002t0016g0300 others(1): Show a0002c0002t0002g0034 a0002c0002t0009g0037 a0002c0002t0016g0300 a0002c0002t0016g0301	4	67	0.0597	32	c.-47 others(49): Show c.-47+4905_-47+4906insGTATGTATATATATATATATATATATAT ATAT	KCTD20	ENSG00000112078.14	transcript	ENST00000373731.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCTD2_chr17_75042225_75070886	75062699	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	59	0.0169	32	c.763 others(47): Show c.763-305_763-274dupCACACACACACACACACACACACACACACA CA	KCTD2	ENSG00000180901.11	transcript	ENST00000322444.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	114	0.0088	32	c.25 others(43): Show c.2563_*2564insATATATATATATATATATATATTTTTTTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	114	0.0088	32	c.25 others(43): Show c.2563_*2564insATATATATATATATATATATATATATTTTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar

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