Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02027.hp1 HG02897.hp2 HG01346.hp1 HG02027.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0002 a0001c0001t0002 a0001c0001t0015 a0001c0002t0002	a0001c0001t0002g0085 a0001c0001t0015g0007 a0001c0002t0002g0052 a0001c0001t0002g0085 a0001c0001t0015g0007 a0001c0002t0002g0052	3	106	0.0283	20	c.290 others(39): Show c.2902+3754_2902+3755insTCTTTCTTCCTTCCTTCCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01168.hp1 HG02056.hp2 others(3): Show HG00597.hp2 HG01168.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0011 a0001c0001t0003g0016 a0001c0002t0001g0008 others(3): Show a0001c0001t0001g0011 a0001c0001t0003g0016 a0001c0002t0001g0008 a0001c0002t0002g0076 a0001c0002t0003g0019 a0001c0002t0003g0057	6	106	0.0566	20	c.290 others(39): Show c.2902+3754_2902+3755insTCTTCCTTCCTTCCTTCCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76969300	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	106	0.0094	20	c.236 others(37): Show c.2360+673_2360+674insTTCCTCCCTTCCTTCCTTCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	20/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77007653	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03017.hp2 NA18906.hp1 others(1): Show HG01081.hp1 HG03017.hp2 NA18906.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0003 a0001c0005t0003	a0001c0001t0002g0017 a0001c0001t0003g0039 a0001c0003t0003g0024 others(1): Show a0001c0001t0002g0017 a0001c0001t0003g0039 a0001c0003t0003g0024 a0001c0005t0003g0015	4	106	0.0377	20	c.209 others(39): Show c.2092+4294_2092+4313dupTATATATATATATATATATA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	18/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77007653	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19030.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0043 a0001c0001t0005g0092 a0001c0001t0001g0043 a0001c0001t0005g0092	2	106	0.0189	20	c.209 others(39): Show c.2092+4313_2092+4314insTATATATATATACACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	18/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77048108	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01071.hp2 others(38): Show HG00280.hp1 HG00280.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01258.hp1 HG01346.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02165.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04204.hp2 NA18906.hp2 NA19003.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0010 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0012 a0001c0002t0017 a0001c0002t0018 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0003 a0001c0007t0002 a0002c0010t0003 a0003c0006t0003	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0002g0017 others(38): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0002g0017 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0068 a0001c0001t0003g0059 a0001c0001t0003g0077 a0001c0001t0003g0090 a0001c0001t0004g0097 a0001c0001t0004g0103 a0001c0001t0005g0072 a0001c0001t0006g0093 a0001c0001t0009g0035 a0001c0001t0015g0007 a0001c0001t0016g0064 a0001c0002t0001g0046 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0002g0009 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0074 a0001c0002t0003g0003 a0001c0002t0003g0057 a0001c0002t0003g0067 a0001c0002t0004g0101 a0001c0002t0004g0105 a0001c0002t0008g0096 a0001c0002t0008g0102 a0001c0002t0012g0050 a0001c0002t0017g0045 a0001c0002t0018g0098 a0001c0003t0001g0010 a0001c0003t0001g0080 a0001c0003t0003g0082 a0001c0004t0001g0036 a0001c0004t0003g0021 a0001c0007t0002g0014 a0002c0010t0003g0095 a0003c0006t0003g0001	41	106	0.3868	20	c.175 others(39): Show c.1750-8491_1750-8472dupTATTTATTTATTTATTTATT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	14/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77152278	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0045 a0001c0002t0017g0045	1	106	0.0094	20	c.808 others(39): Show c.808+31123_808+31142dupCACACACACACACACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	5/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77282723	T T	TCTGATAA others(13): Show TCTGATAAGAAACACAGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01168.hp2 others(10): Show HG00280.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp2 HG01928.hp2 HG02056.hp1 HG02723.hp1 HG04184.hp2 NA19003.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010	a0001c0001t0001g0022 a0001c0001t0003g0026 a0001c0001t0019g0104 others(10): Show a0001c0001t0001g0022 a0001c0001t0003g0026 a0001c0001t0019g0104 a0001c0002t0001g0046 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0074 a0001c0002t0004g0106 a0001c0002t0008g0102 a0001c0002t0010g0086	13	106	0.1226	20	c.541 others(39): Show c.541-31487_541-31468dupCCACCTGTGTTTCTTATCAG	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77324971	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01928.hp2 HG00280.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0010 a0001c0002t0001 a0001c0002t0010	a0001c0002t0001g0046 a0001c0002t0010g0086 a0001c0002t0001g0046 a0001c0002t0010g0086	2	106	0.0189	20	c.541 others(39): Show c.541-73716_541-73715insCACACACACAGAGAGAGAGA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77376948	A A	AATAAATA others(13): Show AATAAATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	106	0.0094	20	c.540 others(39): Show c.540+26913_540+26914insGTATGTATGTATGTATTTAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77376948	A A	AATACATA others(13): Show AATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01168.hp1 others(4): Show HG01071.hp2 HG01099.hp2 HG01168.hp1 HG01243.hp2 HG03486.hp1 HG04204.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0008 a0001c0002t0011 a0001c0007t0002	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0002g0012 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0002g0012 a0001c0001t0007g0025 a0001c0002t0008g0096 a0001c0002t0011g0089 a0001c0007t0002g0014	7	106	0.0660	20	c.540 others(39): Show c.540+26894_540+26913dupGTATGTATGTATGTATGTAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77382994	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0035 a0001c0001t0009g0035	1	106	0.0094	20	c.540 others(39): Show c.540+20867_540+20868insTATATATATACACACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77439087	A A	AAAGAGAA others(13): Show AAAGAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG04184.hp1 NA21309.hp1 HG03130.hp2 HG04184.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0018 a0001c0001t0001 a0001c0002t0018	a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0002t0018g0098 a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0002t0018g0098	3	106	0.0283	20	c.379 others(39): Show c.379-35084_379-35065dupCTCTTCTCTTCTCTTCTCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77506596	A A	AGAGAGAG others(13): Show AGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	106	0.0094	20	c.379 others(41): Show c.379-102574_379-102573insACACACACACACTCTCTCTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77506596	A A	AGAGAGTG others(13): Show AGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG02615.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0023 a0001c0002t0001g0070 a0001c0001t0001g0023 a0001c0002t0001g0070	2	106	0.0189	20	c.379 others(41): Show c.379-102574_379-102573insACACACACACACACACTCTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77522178	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01258.hp2 HG01928.hp1 others(2): Show HG00280.hp1 HG01258.hp2 HG01928.hp1 HG03486.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0002g0048 a0001c0001t0002g0081 a0001c0002t0001g0055 others(2): Show a0001c0001t0002g0048 a0001c0001t0002g0081 a0001c0002t0001g0055 a0001c0002t0002g0051 a0001c0002t0003g0067	5	106	0.0472	20	c.378 others(41): Show c.378+115067_378+115086dupATTTATTTATTTATTTATTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77555057	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01258.hp2 others(11): Show HG00280.hp1 HG01167.hp1 HG01258.hp2 HG01346.hp1 HG01928.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp2 NA18944.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0069 others(11): Show a0001c0001t0001g0053 a0001c0001t0002g0048 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0006g0093 a0001c0002t0001g0055 a0001c0002t0002g0047 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0003g0067 a0001c0002t0017g0045 a0001c0003t0001g0010 a0001c0003t0001g0080 a0001c0004t0001g0036	14	106	0.1321	20	c.378 others(39): Show c.378+82207_378+82208insGTGTGTGTGTGTGTGTGTGT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77572569	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG02559.hp1 others(1): Show HG01243.hp1 HG01243.hp2 HG02559.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0007 a0001c0002t0011	a0001c0001t0001g0022 a0001c0001t0002g0085 a0001c0002t0007g0091 others(1): Show a0001c0001t0001g0022 a0001c0001t0002g0085 a0001c0002t0007g0091 a0001c0002t0011g0089	4	106	0.0377	20	c.378 others(39): Show c.378+64676_378+64695dupATATATATATATATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB1_chr5_170369671_170394367	170390517	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0169 a0001c0001t0076g0169	1	432	0.0023	20	c.-12 others(31): Show c.-1284_-1283insATATATATATATTTTTTTTT	KCNMB1	ENSG00000145936.9	transcript	ENST00000274629.9	protein_coding		1151		chr5	TogoVar
KCNMB2_chr3_178531436_178849429	178614283	A A	ATATATAT others(13): Show ATATATATATATGTATATGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	232	0.0043	20	c.-68 others(39): Show c.-68+77583_-68+77584insGTATATGTGTATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178635408	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	232	0.0043	20	c.-68 others(39): Show c.-68+98714_-68+98733dupACACACACACACACACACAC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178691107	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp2 HG01515.hp1 others(15): Show HG01069.hp2 HG01169.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG02723.hp1 HG02818.hp1 HG03017.hp1 HG03209.hp1 HG03490.hp2 HG03492.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18953.hp2 NA18971.hp2 NA19003.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001	a0001c0001t0002g0113 a0001c0001t0002g0168 a0001c0001t0002g0228 others(15): Show a0001c0001t0002g0113 a0001c0001t0002g0168 a0001c0001t0002g0228 a0001c0001t0003g0086 a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0163 a0001c0001t0003g0225 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0123 a0001c0001t0007g0208 a0001c0002t0001g0112 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0125	18	232	0.0776	20	c.-67 others(41): Show c.-67-116235_-67-116216dupTTTTTTTTTTTTTTTTTTTT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178754177	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02818.hp2 HG02976.hp2 others(3): Show HG00639.hp2 HG02818.hp2 HG02976.hp2 HG03098.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0120 others(3): Show a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0120 a0001c0001t0002g0164 a0001c0001t0002g0223 a0001c0001t0004g0202	6	232	0.0259	20	c.-67 others(39): Show c.-67-53165_-67-53164insTATATATATATATATACACA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757685	T T	TATATATA others(13): Show TATATATATATATATAAGAGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG03017.hp1 others(3): Show HG01952.hp1 HG01975.hp2 HG03017.hp1 HG03710.hp1 NA18941.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0127 a0001c0001t0004g0007 a0001c0001t0004g0181 others(3): Show a0001c0001t0003g0127 a0001c0001t0004g0007 a0001c0001t0004g0181 a0001c0002t0001g0060 a0001c0002t0001g0079 a0001c0002t0001g0196	6	232	0.0259	20	c.-67 others(39): Show c.-67-49652_-67-49651insATATATATAAGAGGATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757713	T T	TATATATA others(13): Show TATATATATATATATAAGAGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	232	0.0043	20	c.-67 others(39): Show c.-67-49624_-67-49623insATATATATAAGAGGATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757713	T T	TATGTATA others(13): Show TATGTATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp1 HG03017.hp2 HG01358.hp1 HG01515.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0177 a0001c0001t0003g0126 a0001c0001t0003g0130 a0001c0001t0003g0177	3	232	0.0129	20	c.-67 others(39): Show c.-67-49628_-67-49627insGTATATATATCCAAGAGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758529	T T	TATATATA others(13): Show TATATATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0084 a0001c0004t0001g0084	1	232	0.0043	20	c.-67 others(39): Show c.-67-48802_-67-48801insCCAAGAGGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758531	T T	TATATATA others(13): Show TATATATATATATCCAAGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	232	0.0043	20	c.-67 others(39): Show c.-67-48800_-67-48799insCCAAGGGGATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758634	C C	CCAAGGGG others(13): Show CCAAGGGGTTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	232	0.0043	20	c.-67 others(39): Show c.-67-48709_-67-48708insCAAGGGGTTTTATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758782	T T	TATATATA others(13): Show TATATATATATCTCCAAGGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	232	0.0043	20	c.-67 others(39): Show c.-67-48551_-67-48550insCTCCAAGGGGATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758844	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0162 a0001c0001t0004g0162	1	232	0.0043	20	c.-67 others(39): Show c.-67-48483_-67-48482insATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758937	T T	TATATATA others(13): Show TATATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02622.hp2 HG03688.hp1 HG00639.hp1 HG02622.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0062 a0001c0001t0003g0023 a0001c0001t0003g0211 a0001c0001t0002g0062 a0001c0001t0003g0023 a0001c0001t0003g0211	3	232	0.0129	20	c.-67 others(39): Show c.-67-48398_-67-48397insCTCCAAGAGGAGATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759089	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	232	0.0043	20	c.-67 others(39): Show c.-67-48240_-67-48239insATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB4_chr12_70361290_70439292	70384524	C C	CGGGATTC others(13): Show CGGGATTCACTAACAGAGTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	378	0.0027	20	c.337 others(39): Show c.337-15684_337-15665dupGGGATTCACTAACAGAGTCT	KCNMB4	ENSG00000135643.5	transcript	ENST00000258111.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNN2_chr5_114357070_114501496	114373640	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02886.hp2 HG01261.hp2 HG02886.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0013 a0002c0002 a0008c0013	a0002c0002t0001 a0008c0013t0001 a0002c0002t0001 a0008c0013t0001	a0002c0002t0001g0117 a0008c0013t0001g0237 a0002c0002t0001g0117 a0008c0013t0001g0237	2	250	0.0080	20	c.121 others(39): Show c.1218+9657_1218+9658insTATATATATATATATATATA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114375952	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(23): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01943.hp2 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02895.hp2 HG02976.hp1 HG03225.hp2 HG03492.hp1 HG03669.hp2 NA18973.hp2 NA18997.hp2 NA19000.hp1 NA19065.hp1 NA19065.hp2 NA19074.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0006 a0002c0002 a0005c0004 a0001c0006 a0002c0002 a0005c0004	a0001c0006t0001 a0002c0002t0001 a0005c0004t0001 a0001c0006t0001 a0002c0002t0001 a0005c0004t0001	a0001c0006t0001g0097 a0001c0006t0001g0098 a0002c0002t0001g0110 others(23): Show a0001c0006t0001g0097 a0001c0006t0001g0098 a0002c0002t0001g0110 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0141 a0002c0002t0001g0150 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0159 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0185 a0002c0002t0001g0201 a0002c0002t0001g0225 a0002c0002t0001g0236 a0002c0002t0001g0242 a0005c0004t0001g0148	26	250	0.1040	20	c.121 others(41): Show c.1218+11957_1218+11976dupATATATATATATATATATAT	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114379543	A A	ATATAACA others(13): Show ATATAACATATTATATATTTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03130.hp2 HG03209.hp2 others(1): Show HG02922.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 others(1): Show a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200	4	250	0.0160	20	c.121 others(41): Show c.1218+15544_1218+15545insTAACATATTATATATTTGTA	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114449908	A A	ACACACAC others(13): Show ACACACACACACACACACGCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0072 a0010c0022t0001g0072	1	250	0.0040	20	c.163 others(41): Show c.1638-13140_1638-13139insACACACACACACACACGCGC	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN2_chr5_114357070_114501496	114449908	A A	ACACACAC others(13): Show ACACACACACACACACGCGCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	250	0.0040	20	c.163 others(41): Show c.1638-13140_1638-13139insACACACACACACACGCGCGC	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154728633	G G	GAGAGGAG others(13): Show GAGAGGAGAAAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19043.hp1 HG03225.hp2 NA19043.hp1	a0005 a0008 a0005 a0008	a0005c0011 a0008c0019 a0005c0011 a0008c0019	a0005c0011t0046 a0008c0019t0012 a0005c0011t0046 a0008c0019t0012	a0005c0011t0046g0201 a0008c0019t0012g0208 a0005c0011t0046g0201 a0008c0019t0012g0208	2	238	0.0084	20	c.159 others(39): Show c.1591-2627_1591-2608dupTCTCTTCTCTTTTCTCCTCT	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	4/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTAAATAT others(13): Show TTAAATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0039 a0004c0005t0039	a0004c0005t0039g0046 a0004c0005t0039g0046	1	238	0.0042	20	c.144 others(39): Show c.1448+5558_1448+5559insTATATATATATATATATTTA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(13): Show ACACACACACACACACACTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02055.hp2 HG01361.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0057 a0001c0007t0001g0085 a0001c0001t0001g0057 a0001c0007t0001g0085	2	208	0.0096	20	c.151 others(41): Show c.1515-35029_1515-35028insACACACACACACACACTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACTC others(13): Show ACACACTCTCTCACTCTCTCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19070.hp1 NA18986.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0072 a0002c0004t0002g0059 a0001c0001t0002g0072 a0002c0004t0002g0059	2	208	0.0096	20	c.151 others(41): Show c.1515-35029_1515-35028insACACTCTCTCACTCTCTCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ1_chr11_2440008_2854105	2799375	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0023 a0004c0009t0002g0023	1	208	0.0048	20	c.179 others(41): Show c.1794+21350_1794+21351insATGTGTGTGTGTGTGTGTGT	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63398998	G G	GTGGGTGC others(13): Show GTGGGTGCCCACGGGGAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01081.hp1 HG01106.hp2 others(6): Show HG00280.hp1 HG01081.hp1 HG01106.hp2 HG01257.hp1 HG02738.hp1 HG03239.hp1 HG03834.hp1 HG03942.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0014	a0001c0002t0015 a0001c0003t0013 a0001c0003t0100 others(3): Show a0001c0002t0015 a0001c0003t0013 a0001c0003t0100 a0001c0003t0104 a0001c0004t0093 a0001c0014t0015	a0001c0002t0015g0003 a0001c0002t0015g0107 a0001c0003t0013g0292 others(5): Show a0001c0002t0015g0003 a0001c0002t0015g0107 a0001c0003t0013g0292 a0001c0003t0013g0296 a0001c0003t0100g0268 a0001c0003t0104g0287 a0001c0004t0093g0165 a0001c0014t0015g0230	9	330	0.0273	20	c.76 others(31): Show c.7645_*7646insGTCCTCCCCGTGGGCACCCA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding		1209		chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132128507	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0059 a0001c0007t0059	a0001c0007t0059g0057 a0001c0007t0059g0057	1	176	0.0057	20	c.73 others(29): Show c.735_*754dupCACACACACACACACACACA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	15/15	754		chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132154193	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	176	0.0057	20	c.126 others(39): Show c.1262+9255_1262+9274dupAAAAAAAAAAAAAAAAAAAA	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	9/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132186946	G G	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0138 a0001c0001t0016g0138	1	176	0.0057	20	c.387 others(35): Show c.387-766_387-765insGTCTCTCTCTCTCTCTCTCT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132303565	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0102 a0001c0001t0082g0102	1	176	0.0057	20	c.387 others(41): Show c.387-117385_387-117384insATATATATATATATATATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132303677	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0087 a0001c0001t0056g0087	1	176	0.0057	20	c.387 others(41): Show c.387-117497_387-117496insGTGTGTGTATATATATATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar

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