Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
KCNMB2_chr3_178531436_178849429	178757364	A A	ATATATAT others(21): Show ATATATATCCAAGAGGATATATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02559.hp1 HG00735.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0229 a0001c0001t0002g0207 a0001c0001t0002g0229	2	232	0.0086	28	c.-67 others(47): Show c.-67-49972_-67-49971insCCAAGAGGATATATATATATGTATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757535	T T	TATATATA others(21): Show TATATATATATGTATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01257.hp1 HG01884.hp1 others(3): Show HG00735.hp1 HG01257.hp1 HG01884.hp1 HG02622.hp1 HG02809.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0101 a0001c0001t0001g0161 a0001c0001t0002g0022 others(3): Show a0001c0001t0001g0101 a0001c0001t0001g0161 a0001c0001t0002g0022 a0001c0001t0002g0207 a0001c0001t0003g0225 a0001c0001t0005g0003	6	232	0.0259	28	c.-67 others(47): Show c.-67-49797_-67-49770dupGTATATATATCCAAGAGGATATATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757535	T T	TATATATA others(21): Show TATATATATATGTATATATGTCCAAGAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02145.hp1 others(6): Show HG00639.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp1 HG02630.hp1 HG02976.hp2 HG03579.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0200 a0001c0001t0002g0089 a0001c0001t0002g0209 others(6): Show a0001c0001t0001g0200 a0001c0001t0002g0089 a0001c0001t0002g0209 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0004g0202	9	232	0.0388	28	c.-67 others(47): Show c.-67-49790_-67-49789insGTCCAAGAGGATATATATATGTATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757565	T T	TATATATA others(21): Show TATATATATATGTATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	232	0.0043	28	c.-67 others(47): Show c.-67-49767_-67-49740dupGTATATATATCCAAGAGGATATATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757653	T T	TATATATA others(21): Show TATATATATATGTATATATATCCAAGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02895.hp2 HG01891.hp2 HG02451.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0206 a0001c0001t0003g0025 a0001c0002t0001g0119 a0001c0001t0002g0206 a0001c0001t0003g0025 a0001c0002t0001g0119	3	232	0.0129	28	c.-67 others(47): Show c.-67-49623_-67-49596dupGTATATATATCCAAGAGGATATATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178757840	G G	GATATATA others(21): Show GATATATATATATATATCCAAGAGGATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02922.hp2 HG02965.hp1 others(3): Show HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03486.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0106 others(3): Show a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0204 a0001c0001t0003g0205	6	232	0.0259	28	c.-67 others(47): Show c.-67-49493_-67-49492insATATATCCAAGAGGATACATATATAT AT	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(21): Show TATATATATATATATATATCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp1 HG03098.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0010 a0001c0001t0002g0034	2	232	0.0086	28	c.-67 others(47): Show c.-67-48796_-67-48795insCCAAGAGGAGATATATATATATATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758974	T T	TATATATA others(21): Show TATATATATATATATATATCTCCAAGGGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	232	0.0043	28	c.-67 others(47): Show c.-67-48351_-67-48350insCTCCAAGGGGATATATATATATATAT AT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178759414	T T	TATATATC others(21): Show TATATATCTCTCCAAGAAGAGATAGATAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	232	0.0043	28	c.-67 others(47): Show c.-67-47923_-67-47922insCTCTCCAAGAAGAGATAGATACATAT AT	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(21): Show ACACGCACGCACGTGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18939.hp2 NA18949.hp2 others(2): Show NA18612.hp2 NA18939.hp2 NA18949.hp2 NA18953.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0003 a0001c0002t0001 a0001c0005t0003	a0001c0002t0001g0072 a0001c0002t0001g0112 a0001c0002t0001g0124 others(2): Show a0001c0002t0001g0072 a0001c0002t0001g0112 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0005t0003g0051	5	232	0.0216	28	c.-67 others(47): Show c.-67-28880_-67-28879insGCACGCACGTGCGCGCGCGCGCGCGC AC	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178778462	A A	ACGCACGC others(21): Show ACGCACGCACGTGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA20752.hp2 NA20805.hp1 HG00735.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0134 a0001c0002t0001g0184 a0001c0002t0006g0199 a0001c0002t0001g0134 a0001c0002t0001g0184 a0001c0002t0006g0199	3	232	0.0129	28	c.-67 others(47): Show c.-67-28880_-67-28879insGCACGCACGTGCGCGCGCGCGCGCGC GC	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(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01258.hp2 NA19030.hp2 others(2): Show HG00639.hp1 HG01258.hp2 NA19030.hp2 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0062 others(2): Show a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0062 a0001c0001t0003g0098 a0001c0001t0003g0203	5	232	0.0216	28	c.57- others(43): Show c.57-8361_57-8360insTATATATATATATATATACATATATATA	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(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02293.hp2 HG01993.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0159 a0002c0002t0001g0111 a0002c0002t0001g0159	2	250	0.0080	28	c.121 others(47): Show c.1218+9657_1218+9658insTATATATATATATATATATATATATA TA	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(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02559.hp1 NA18962.hp2 HG02040.hp2 HG02559.hp1 NA18962.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0094 a0002c0002t0001g0151 a0002c0002t0001g0166 a0001c0001t0001g0094 a0002c0002t0001g0151 a0002c0002t0001g0166	3	250	0.0120	28	c.121 others(49): Show c.1218+11976_1218+11977insATATATATATATATATATATATAT ATAT	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(21): Show ACACACACACACACACACACACGCGCGCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG01243.hp1 HG02451.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0239 a0002c0011t0001g0241 a0002c0011t0001g0239 a0002c0011t0001g0241	2	250	0.0080	28	c.163 others(49): Show c.1638-13140_1638-13139insACACACACACACACACACACGCGC GCGC	KCNN2	ENSG00000080709.17	transcript	ENST00000673685.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTAAATAT others(21): Show TTAAATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02615.hp2 HG02717.hp2 others(8): Show HG00140.hp2 HG02615.hp2 HG02717.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp2 NA18522.hp2 NA18944.hp2 NA18975.hp2 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0010 a0012	a0001c0001 a0002c0002 a0002c0009 others(4): Show a0001c0001 a0002c0002 a0002c0009 a0003c0003 a0004c0005 a0010c0034 a0012c0026	a0001c0001t0001 a0001c0001t0013 a0001c0001t0028 others(8): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0028 a0002c0002t0003 a0002c0002t0074 a0002c0009t0051 a0003c0003t0102 a0004c0005t0001 a0004c0005t0067 a0010c0034t0013 a0012c0026t0016	a0001c0001t0001g0117 a0001c0001t0013g0116 a0001c0001t0028g0101 others(8): Show a0001c0001t0001g0117 a0001c0001t0013g0116 a0001c0001t0028g0101 a0002c0002t0003g0124 a0002c0002t0074g0157 a0002c0009t0051g0155 a0003c0003t0102g0173 a0004c0005t0001g0053 a0004c0005t0067g0050 a0010c0034t0013g0187 a0012c0026t0016g0013	11	238	0.0462	28	c.144 others(47): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATT TA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNN3_chr1_154692455_154875281	154766416	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01169.hp1 others(8): Show HG00735.hp1 HG01074.hp2 HG01169.hp1 HG01255.hp1 HG01884.hp1 HG02976.hp1 HG03471.hp1 HG04199.hp1 NA18983.hp2 NA19007.hp2 NA19088.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0015	a0001c0001 a0002c0002 a0002c0010 others(5): Show a0001c0001 a0002c0002 a0002c0010 a0003c0003 a0004c0005 a0006c0013 a0008c0019 a0015c0037	a0001c0001t0001 a0001c0001t0021 a0001c0001t0043 others(8): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0043 a0002c0002t0117 a0002c0010t0088 a0003c0003t0010 a0003c0003t0096 a0004c0005t0038 a0006c0013t0006 a0008c0019t0007 a0015c0037t0006	a0001c0001t0001g0078 a0001c0001t0021g0065 a0001c0001t0043g0075 others(8): Show a0001c0001t0001g0078 a0001c0001t0021g0065 a0001c0001t0043g0075 a0002c0002t0117g0227 a0002c0010t0088g0131 a0003c0003t0010g0168 a0003c0003t0096g0171 a0004c0005t0038g0033 a0006c0013t0006g0024 a0008c0019t0007g0210 a0015c0037t0006g0224	11	238	0.0462	28	c.144 others(47): Show c.1448+5558_1448+5559insTATATATATATATATATATATATATA TA	KCNN3	ENSG00000143603.19	transcript	ENST00000271915.9	protein_coding	3/7			chr1	TogoVar
KCNQ1_chr11_2440008_2854105	2733814	A A	ACACACAC others(21): Show ACACACACTCTCTCACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	208	0.0048	28	c.151 others(49): Show c.1515-35029_1515-35028insACACACTCTCTCACTCTCTCTCTC TCTC	KCNQ1	ENSG00000053918.19	transcript	ENST00000155840.12	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNQ2_chr20_63395208_63477655	63456891	G G	GGAGCCCA others(21): Show GGAGCCCAGCAGGGCCCCGGGGATGAGCA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0314 a0001c0009t0003g0314	1	330	0.0030	28	c.297 others(47): Show c.297-10082_297-10055dupTGCTCATCCCCGGGGCCCTGCTGGGC TC	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132303565	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01943.hp2 HG02056.hp2 others(11): Show HG00621.hp1 HG01943.hp2 HG02056.hp2 HG02615.hp2 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0021 others(11): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0044 a0001c0001t0051 a0001c0001t0057 a0001c0006t0098 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0014 a0001c0001t0014g0108 a0001c0001t0021g0055 others(11): Show a0001c0001t0001g0014 a0001c0001t0014g0108 a0001c0001t0021g0055 a0001c0001t0024g0077 a0001c0001t0029g0135 a0001c0001t0030g0152 a0001c0001t0031g0165 a0001c0001t0040g0003 a0001c0001t0044g0038 a0001c0001t0051g0047 a0001c0001t0057g0058 a0001c0006t0098g0154 a0002c0002t0001g0007 a0002c0002t0007g0176	14	176	0.0796	28	c.387 others(49): Show c.387-117385_387-117384insATATATATATATATATATATATAT ATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	176	0.0057	28	c.386 others(47): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ4_chr1_40778787_40845452	40814046	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp2 HG02615.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0217 a0001c0002t0006g0227 a0001c0002t0003g0217 a0001c0002t0006g0227	2	372	0.0054	28	c.315 others(45): Show c.315-3195_315-3194insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	80	0.0125	28	c.399 others(49): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73063686	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATGATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0046 a0001c0001t0029g0046	1	80	0.0125	28	c.617 others(47): Show c.617-13636_617-13635insAGATAGATAGATAGATAGATAGATGA TA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	3/13			chr6	TogoVar
KCNQ5_chr6_72617064_73203853	73097142	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0059 a0001c0002t0030g0059	1	80	0.0125	28	c.919 others(45): Show c.919-8098_919-8097insTATATATATATATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNS3_chr2_17873667_17937958	17887484	G G	GATCTATC others(21): Show GATCTATCTATCTATCTATCCATCTATCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG02027.hp1 others(8): Show HG00280.hp1 HG00621.hp2 HG02027.hp1 HG02040.hp2 HG02109.hp2 HG04184.hp1 NA18953.hp2 NA18970.hp1 NA18977.hp1 NA19009.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 others(8): Show a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0002t0001g0082 a0001c0002t0001g0083	11	384	0.0287	28	c.-25 others(47): Show c.-252+8697_-252+8698insCATCTATCTATCTATCTATCTATCTA TC	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17901715	C C	CCTGCAGA others(21): Show CCTGCAGATTGTGTCCAGGCTGCAGATGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18980.hp1 NA18995.hp2 HG00621.hp1 NA18980.hp1 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0260 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0260	3	384	0.0078	28	c.-25 others(49): Show c.-251-15962_-251-15935dupGCAGATTGTGTCCAGGCTGCAGAT GTCT	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNS3_chr2_17873667_17937958	17921915	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 NA18948.hp2 HG03491.hp1 HG03492.hp2 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0115 a0002c0003t0001g0014 a0001c0001t0001g0115 a0002c0003t0001g0014	3	384	0.0078	28	c.-60 others(45): Show c.-60+4061_-60+4088dupTATATATATATATATATATATATATATA	KCNS3	ENSG00000170745.12	transcript	ENST00000304101.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNT1_chr9_135697185_135800502	135721266	A A	AGGGAAAC others(21): Show AGGGAAACGCCAGCCTGCTCAGTCCCTGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	272	0.0037	28	c.254 others(45): Show c.254+6550_254+6577dupAAACGCCAGCCTGCTCAGTCCCTGGGGG	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135730990	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0044 a0011c0011t0001g0044	1	272	0.0037	28	c.254 others(47): Show c.254+16293_254+16294insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATAGAGA others(21): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18990.hp1 NA18969.hp2 NA18990.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0002 a0001c0003t0001 a0001c0004t0002	a0001c0003t0001g0210 a0001c0004t0002g0125 a0001c0003t0001g0210 a0001c0004t0002g0125	2	272	0.0074	28	c.254 others(47): Show c.254+17272_254+17273insTAGAGAGAGAGAGAGAGAGAGAGAGA GA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 NA19007.hp1 HG00280.hp1 HG00323.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0052 a0001c0003t0001g0248 a0001c0005t0001g0208 a0001c0001t0001g0052 a0001c0003t0001g0248 a0001c0005t0001g0208	3	272	0.0110	28	c.254 others(47): Show c.254+17272_254+17273insTATAGAGAGAGAGAGAGAGAGAGAGA GA	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(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03209.hp2 NA18948.hp2 others(1): Show HG00140.hp1 HG03209.hp2 NA18948.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001	a0001c0001t0026g0123 a0001c0002t0002g0150 a0001c0002t0004g0137 others(1): Show a0001c0001t0026g0123 a0001c0002t0002g0150 a0001c0002t0004g0137 a0001c0003t0001g0126	4	272	0.0147	28	c.254 others(47): Show c.254+17272_254+17273insTATATAGAGAGAGAGAGAGAGAGAGA GA	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(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02129.hp1 HG01109.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0036 a0001c0002t0001 a0001c0006t0036	a0001c0002t0001g0041 a0001c0006t0036g0009 a0001c0002t0001g0041 a0001c0006t0036g0009	2	272	0.0074	28	c.254 others(47): Show c.254+17272_254+17273insTATATATAGAGAGAGAGAGAGAGAGA GA	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(21): Show TATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0009 a0001c0032t0009	a0001c0032t0009g0268 a0001c0032t0009g0268	1	272	0.0037	28	c.254 others(47): Show c.254+17272_254+17273insTATATATATAGAGAGAGAGAGAGAGA GA	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(21): Show TATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp2 HG00733.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0032 a0001c0001t0001 a0001c0002t0032	a0001c0001t0001g0085 a0001c0002t0032g0200 a0001c0001t0001g0085 a0001c0002t0032g0200	2	272	0.0074	28	c.254 others(47): Show c.254+17272_254+17273insTATATATATATATATAGAGAGAGAGA GA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	136	0.0074	28	c.269 others(47): Show c.2697+1408_2697+1409insATATATATATATATTTTTTTTTTTTT TT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCNT2_chr1_196220779_196613440	196284248	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	136	0.0074	28	c.269 others(47): Show c.2697+1408_2697+1409insATATATATATATATATATATTTTTTT TT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	23/27			chr1	TogoVar
KCP_chr7_128871865_128915709	128908251	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01978.hp2 others(11): Show HG01167.hp2 HG01169.hp2 HG01978.hp2 HG02027.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp1 HG04115.hp2 NA18959.hp2 NA18986.hp1 NA18994.hp2 NA18995.hp2 NA19055.hp1 NA19089.hp1	a0001 a0004 a0007 others(5): Show a0001 a0004 a0007 a0012 a0024 a0029 a0058 a0064	a0001c0001 a0004c0004 a0007c0007 others(5): Show a0001c0001 a0004c0004 a0007c0007 a0012c0019 a0024c0025 a0029c0063 a0058c0056 a0064c0039	a0001c0001t0001 a0004c0004t0002 a0007c0007t0002 others(5): Show a0001c0001t0001 a0004c0004t0002 a0007c0007t0002 a0012c0019t0002 a0024c0025t0001 a0029c0063t0001 a0058c0056t0002 a0064c0039t0001	a0001c0001t0001g0118 a0001c0001t0001g0301 a0001c0001t0001g0302 others(10): Show a0001c0001t0001g0118 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0306 a0004c0004t0002g0014 a0004c0004t0002g0323 a0007c0007t0002g0322 a0012c0019t0002g0337 a0024c0025t0001g0304 a0029c0063t0001g0305 a0058c0056t0002g0324 a0064c0039t0001g0300	14	372	0.0376	28	c.219 others(43): Show c.219+147_219+174dupTCTTTCTTTCTTTCTTTCTTTCTTTCTT	KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	2/39			chr7	TogoVar
KCTD16_chr5_144165873_144490686	144442450	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 NA18522.hp1 HG01243.hp1 HG02559.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0012 a0001c0001t0009 a0001c0001t0012	a0001c0001t0009g0026 a0001c0001t0012g0086 a0001c0001t0012g0092 a0001c0001t0009g0026 a0001c0001t0012g0086 a0001c0001t0012g0092	3	156	0.0192	28	c.833 others(47): Show c.833-31209_833-31182dupTTCTTTCTTTCTTTCTTTCTTTCTTT CT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD19_chr16_67284432_67331741	67331069	A A	AAGAGAGA others(21): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	232	0.0043	28	c.-43 others(39): Show c.-4390_-4363dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT	KCTD19	ENSG00000168676.11	transcript	ENST00000304372.6	protein_coding		4329		chr16	TogoVar
KCTD19_chr16_67284432_67331741	67331113	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	232	0.0043	28	c.-44 others(39): Show c.-4407_-4406insTTCTCTCTCTCTCTCTCTCTCTCTCTCT	KCTD19	ENSG00000168676.11	transcript	ENST00000304372.6	protein_coding		4373		chr16	TogoVar
KCTD20_chr6_36438000_36496141	36448015	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0312 a0001c0001t0010g0312	1	366	0.0027	28	c.-47 others(45): Show c.-47+4905_-47+4906insGTATATATATATATATATATATATATAT	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(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18988.hp2 NA19003.hp1 others(2): Show HG01928.hp2 NA18988.hp2 NA19003.hp1 NA19066.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0194 a0001c0001t0005g0035 a0001c0001t0005g0187 others(1): Show a0001c0001t0002g0194 a0001c0001t0005g0035 a0001c0001t0005g0187 a0001c0001t0005g0190	5	408	0.0123	28	c.763 others(43): Show c.763-301_763-274dupCACACACACACACACACACACACACACA	KCTD2	ENSG00000180901.11	transcript	ENST00000322444.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCTD3_chr1_215562304_215626807	215565896	A A	ACTTTCTT others(21): Show ACTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 NA19240.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	314	0.0064	28	c.-17 others(39): Show c.-1790_-1789insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	KCTD3	ENSG00000136636.13	transcript	ENST00000259154.9	protein_coding		1407		chr1	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	28	c.25 others(39): Show c.2563_*2564insATATATATATATATATATATATATTTTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD4_chr13_45187853_45206045	45191224	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	352	0.0028	28	c.25 others(39): Show c.2563_*2564insATATATATATATATATATATATATATTT	KCTD4	ENSG00000180332.7	transcript	ENST00000379108.2	protein_coding		1628		chr13	TogoVar
KCTD8_chr4_44168903_44453809	44272121	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02486.hp2 HG03130.hp1 HG01993.hp1 HG02486.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0020 a0001c0001t0001g0140 a0001c0001t0004g0271 a0001c0001t0001g0020 a0001c0001t0001g0140 a0001c0001t0004g0271	3	294	0.0102	28	c.962 others(47): Show c.962-96872_962-96871insTATATATATATATATATATATATATA TA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KCTD8_chr4_44168903_44453809	44317228	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01123.hp2 others(3): Show HG00741.hp2 HG01071.hp2 HG01123.hp2 HG03492.hp1 NA18982.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 others(3): Show a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0225 a0001c0001t0003g0196	6	294	0.0204	28	c.961 others(49): Show c.961+130334_961+130335insAAAAAAAAAAAAAAAAAAAAAAAA AAAA	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KDM1B_chr6_18150422_18228854	18208603	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18997.hp2 NA19080.hp1 HG00558.hp1 NA18997.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0008 a0001c0003 a0002c0008	a0001c0003t0001 a0002c0008t0002 a0001c0003t0001 a0002c0008t0002	a0001c0003t0001g0136 a0001c0003t0001g0137 a0002c0008t0002g0083 a0001c0003t0001g0136 a0001c0003t0001g0137 a0002c0008t0002g0083	3	392	0.0077	28	c.186 others(45): Show c.1866+398_1866+399insGTGTATATATATATATATATATATATAT	KDM1B	ENSG00000165097.16	transcript	ENST00000650836.2	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results