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
KCNC1_chr11_17729781_17788057	17734263	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01168.hp2 others(33): Show HG00738.hp1 HG00738.hp2 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18986.hp2 NA19005.hp1 NA19077.hp1 NA19077.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0023 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0004t0003	a0001c0001t0001g0117 a0001c0001t0001g0136 a0001c0001t0001g0140 others(33): Show a0001c0001t0001g0117 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0002g0034 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0003g0011 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0005g0065 a0001c0001t0006g0133 a0001c0001t0006g0135 a0001c0001t0007g0087 a0001c0001t0008g0030 a0001c0001t0010g0139 a0001c0001t0023g0017 a0001c0001t0025g0019 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0003g0112 a0001c0004t0003g0107	36	332	0.1084	22	c.-17 others(33): Show c.-1740_-1739insGTGTGTGTGTGTGTGTGTGTGT	KCNC1	ENSG00000129159.9	transcript	ENST00000265969.8	protein_coding		517		chr11	TogoVar
KCNC2_chr12_75035078_75214839	75075458	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	316	0.0032	22	c.688 others(41): Show c.688-24163_688-24142dupATATATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75086681	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18983.hp2 NA18970.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0276 a0001c0001t0003g0275 a0001c0001t0001g0276 a0001c0001t0003g0275	2	316	0.0063	22	c.688 others(41): Show c.688-35365_688-35364insATATATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp2 HG02895.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0107 a0001c0001t0013g0111 a0001c0001t0013g0107 a0001c0001t0013g0111	2	316	0.0063	22	c.687 others(41): Show c.687+68296_687+68317dupTTTTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75177057	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	316	0.0032	22	c.687 others(41): Show c.687+30239_687+30240insGTATATATATATATATATATAT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75201262	G G	GAAAAAAA others(15): Show GAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0298 a0001c0003t0018g0298	1	316	0.0032	22	c.687 others(39): Show c.687+6013_687+6034dupTTTTTTTTTTTTTTTTTTTTTT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCND2_chr7_120268175_120755337	120677550	T T	TATAGATA others(15): Show TATAGATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	80	0.0125	22	c.111 others(43): Show c.1116-55350_1116-55349insGATATAGATATAGATATAGATA	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCND3_chr1_111765662_111994668	111965438	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01943.hp2 HG02080.hp1 others(6): Show HG00639.hp2 HG01943.hp2 HG02080.hp1 HG02300.hp1 HG02602.hp2 HG02615.hp2 HG03579.hp1 HG03710.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0050	a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0075 others(6): Show a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0002g0026 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0003g0039 a0001c0001t0050g0004	9	226	0.0398	22	c.110 others(43): Show c.1106+16161_1106+16182dupTGTGTGTGTGTGTGTGTGTGTG	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar
KCND3_chr1_111765662_111994668	111965438	C C	CCCCCCAC others(15): Show CCCCCCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	226	0.0044	22	c.110 others(43): Show c.1106+16182_1106+16183insTGTGTGTGTGTGTGTGTGGGGG	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar
KCNE3_chr11_74449841_74472549	74453762	G G	GAGATATA others(15): Show GAGATATAGATATATAGATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18990.hp2 NA19000.hp1 NA18949.hp1 NA18990.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	3	446	0.0067	22	c.34 others(33): Show c.3489_*3490insATATATCTATATATCTATATCT	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		1078		chr11	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	AATATATA others(15): Show AATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG02698.hp2 HG03491.hp2 others(2): Show HG00140.hp1 HG02698.hp2 HG03491.hp2 HG03492.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0119 a0001c0001t0019g0120 a0001c0001t0019g0158 others(2): Show a0001c0001t0019g0119 a0001c0001t0019g0120 a0001c0001t0019g0158 a0001c0001t0019g0171 a0001c0001t0019g0180	5	446	0.0112	22	c.10 others(33): Show c.1075_*1096dupATATATATATATATATATATAT	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNG3_chr2_42437017_42498982	42452220	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	342	0.0029	22	c.666 others(39): Show c.666-7663_666-7642dupATATATATATATATATATATAT	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	342	0.0029	22	c.666 others(39): Show c.666-7665_666-7664insAATATATATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210679939	T T	TAATGCAA others(15): Show TAATGCAATGAGTTGCATTCATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01256.hp1 HG02165.hp2 others(1): Show HG00733.hp2 HG01256.hp1 HG02165.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0007 a0003c0008 a0001c0002 a0001c0007 a0003c0008	a0001c0002t0007 a0001c0007t0022 a0003c0008t0007 a0001c0002t0007 a0001c0007t0022 a0003c0008t0007	a0001c0002t0007g0027 a0001c0002t0007g0073 a0001c0007t0022g0072 others(1): Show a0001c0002t0007g0027 a0001c0002t0007g0073 a0001c0007t0022g0072 a0003c0008t0007g0024	4	164	0.0244	22	c.33 others(33): Show c.3320_*3341dupCATGAATGCAACTCATTGCATT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	11/11	3341		chr1	TogoVar
KCNH1_chr1_210673314_211139148	210759156	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03579.hp2 HG03195.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0044 a0001c0002t0001g0127 a0001c0001t0005g0044 a0001c0002t0001g0127	2	164	0.0122	22	c.211 others(43): Show c.2112+16191_2112+16192insGTGTGTGTGTGTGTGTGTGTGT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210761327	G G	GACTAGTC others(15): Show GACTAGTCAACTAGTTGTTGGCA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0024 a0003c0008t0007g0024	1	164	0.0061	22	c.211 others(43): Show c.2112+13999_2112+14020dupTGCCAACAACTAGTTGACTAGT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806820	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	164	0.0061	22	c.146 others(41): Show c.1463-2655_1463-2654insATATATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806834	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0064 a0001c0001t0026g0064	1	164	0.0061	22	c.146 others(41): Show c.1463-2669_1463-2668insATATATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210806836	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03704.hp1 HG01261.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0076 a0001c0001t0004g0001 a0001c0001t0003g0076 a0001c0001t0004g0001	2	164	0.0122	22	c.146 others(41): Show c.1463-2671_1463-2670insATATATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210832907	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	164	0.0061	22	c.146 others(43): Show c.1463-28742_1463-28741insATATATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856877	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG02886.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0010 a0001c0001t0005g0043 a0001c0001t0002g0010 a0001c0001t0005g0043	2	164	0.0122	22	c.146 others(43): Show c.1463-52733_1463-52712dupTATATATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856898	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18961.hp2 NA19062.hp2 HG03017.hp2 NA18961.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0093 a0001c0001t0004g0032 a0001c0001t0004g0075 a0001c0001t0002g0093 a0001c0001t0004g0032 a0001c0001t0004g0075	3	164	0.0183	22	c.146 others(43): Show c.1463-52733_1463-52732insTTATATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(15): Show GATATATAGATATAGATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG02280.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0141 a0001c0001t0020g0146 a0001c0001t0002g0141 a0001c0001t0020g0146	2	164	0.0122	22	c.559 others(41): Show c.559-25786_559-25785insATATATATCTATATCTATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(15): Show GATATATAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	164	0.0061	22	c.559 others(41): Show c.559-25786_559-25785insATATATATATATATCTATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18961.hp2 NA18998.hp2 others(1): Show HG02976.hp2 NA18961.hp2 NA18998.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0002g0131 others(1): Show a0001c0001t0002g0037 a0001c0001t0002g0051 a0001c0001t0002g0131 a0001c0001t0004g0075	4	164	0.0244	22	c.559 others(41): Show c.559-25786_559-25785insATATATATATATATATATATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211115701	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0135 a0001c0002t0015g0135	1	164	0.0061	22	c.80- others(37): Show c.80-8325_80-8324insTATATATATATATATATATATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	1/10			chr1	TogoVar
KCNH2_chr7_150939961_150983321	150962627	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0258 a0002c0004t0001g0258	1	358	0.0028	22	c.308 others(39): Show c.308-2913_308-2892dupCTCTCTCTCTCTCTCTCTCTCT	KCNH2	ENSG00000055118.17	transcript	ENST00000262186.10	protein_coding	2/14			chr7	TogoVar
KCNH5_chr14_62694464_63050458	63003441	A A	ATATATAT others(15): Show ATATATATATTATATATATATTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	224	0.0045	22	c.305 others(39): Show c.305-2004_305-1983dupAAATATATATATAATATATATA	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	3/10			chr14	TogoVar
KCNH7_chr2_162366407_162843767	162429383	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG03225.hp1 others(2): Show HG02055.hp2 HG02970.hp1 HG03225.hp1 NA18977.hp1 NA18991.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0073 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0073 a0001c0001t0001g0085 a0003c0004t0001g0019	5	100	0.0500	22	c.195 others(41): Show c.1954+5793_1954+5814dupAAAAAAAAAAAAAAAAAAAAAA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	8/15			chr2	TogoVar
KCNH7_chr2_162366407_162843767	162820209	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	100	0.0100	22	c.307 others(41): Show c.307+16306_307+16327dupCACACACACACACACACACACA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNH8_chr3_19143510_19540642	19206168	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02895.hp1 others(1): Show HG02055.hp2 HG02647.hp2 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006	a0001c0003t0001g0096 a0001c0003t0001g0130 a0001c0003t0002g0131 others(1): Show a0001c0003t0001g0096 a0001c0003t0001g0130 a0001c0003t0002g0131 a0001c0003t0006g0056	4	134	0.0299	22	c.77- others(39): Show c.77-47485_77-47484insGTGTATATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19206168	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0047 a0001c0003t0002g0047	1	134	0.0075	22	c.77- others(39): Show c.77-47485_77-47484insGTGTGTATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19206168	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18522.hp2 HG01243.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	134	0.0149	22	c.77- others(39): Show c.77-47485_77-47484insGTGTGTGTGTGTGTGTATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19258947	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	134	0.0075	22	c.310 others(39): Show c.310+5061_310+5062insCTCTCTATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19308705	T T	TCTCCCCC others(15): Show TCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0053 a0001c0006t0001g0053	1	134	0.0075	22	c.442 others(41): Show c.442+27379_442+27380insCCCCTCTCCCCCTCTCCCCCTC	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19326356	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	134	0.0075	22	c.443 others(41): Show c.443-16225_443-16204dupTATATATATATATATATATATA	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170568648	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 NA18985.hp1 others(1): Show HG02280.hp2 HG03471.hp1 NA18985.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0168 a0001c0001t0003g0022 a0001c0001t0003g0202 others(1): Show a0001c0001t0001g0168 a0001c0001t0003g0022 a0001c0001t0003g0202 a0001c0003t0003g0013	4	218	0.0184	22	c.61+ others(39): Show c.61+64019_61+64040dupAAAAAAAAAAAAAAAAAAAAAA	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP1_chr5_170499020_170741632	170676054	G G	GAGGGAGG others(15): Show GAGGGAGGAAGATGAAAGAAGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG00639.hp2 others(51): Show HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01071.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03491.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp2 NA18941.hp1 NA18950.hp2 NA18951.hp1 NA18961.hp1 NA18961.hp2 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18985.hp2 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19066.hp1 NA19070.hp2 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0087 others(51): Show a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0115 a0001c0001t0002g0159 a0001c0001t0002g0176 a0001c0001t0002g0199 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0102 a0001c0001t0003g0120 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0149 a0001c0001t0003g0157 a0001c0001t0003g0163 a0001c0001t0003g0181 a0001c0001t0003g0198 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0213 a0001c0001t0004g0049 a0001c0001t0005g0048 a0001c0001t0005g0052 a0001c0001t0007g0038 a0001c0001t0008g0070 a0001c0001t0008g0113 a0001c0001t0008g0205 a0001c0001t0008g0206	54	218	0.2477	22	c.62- others(39): Show c.62-42670_62-42649dupTGAAAGAAGGAAGGGAGGAAGA	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	20803727	G G	GAGAGGAA others(15): Show GAGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	80	0.0125	22	c.289 others(41): Show c.289-44838_289-44837insTCCTTCCTTCCTTCCTTCCTCT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	3/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	20864043	C C	CATACATA others(15): Show CATACATATGTATGTATACGCAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02486.hp1 HG03239.hp2 HG01106.hp1 HG02486.hp1 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0006 a0001c0002t0004 a0001c0002t0006	a0001c0002t0004g0048 a0001c0002t0006g0050 a0001c0002t0006g0053 a0001c0002t0004g0048 a0001c0002t0006g0050 a0001c0002t0006g0053	3	80	0.0375	22	c.164 others(41): Show c.164-13377_164-13376insATGCGTATACATACATATGTAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	2/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21247665	A A	ATATATCT others(15): Show ATATATCTATATATAGATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG02257.hp2 others(10): Show HG01106.hp2 HG01243.hp1 HG02257.hp2 HG02451.hp2 HG02647.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0002g0020 a0001c0001t0002g0036 a0001c0001t0002g0074 a0001c0001t0003g0002 a0001c0001t0003g0080 a0001c0001t0004g0067 a0001c0001t0012g0045 a0001c0002t0004g0028 a0001c0002t0006g0019	13	80	0.1625	22	c.62- others(41): Show c.62-364978_62-364957dupAATATATCTATATATAGATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21304030	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	80	0.0125	22	c.62- others(41): Show c.62-421343_62-421322dupTCTCTCTCTCTCTCTCTCTCTC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21320964	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0063 a0001c0001t0001g0075 a0001c0001t0002g0063	2	80	0.0250	22	c.62- others(41): Show c.62-438256_62-438255insTTTTTTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21501248	T T	TCTCACAC others(15): Show TCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	80	0.0125	22	c.61+ others(41): Show c.61+447322_61+447323insTGTGTGTGTGTGTGTGTGTGAG	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21501688	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02647.hp1 others(3): Show HG02109.hp1 HG02257.hp2 HG02647.hp1 HG02698.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0024 a0001c0001t0002g0015 a0001c0001t0002g0036 others(3): Show a0001c0001t0001g0024 a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0003g0018 a0001c0001t0004g0067 a0001c0002t0001g0049	6	80	0.0750	22	c.61+ others(41): Show c.61+446861_61+446882dupCACACACACACACACACACACA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21504475	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0071	1	80	0.0125	22	c.61+ others(41): Show c.61+444095_61+444096insCTTTCTTTTTTTTTTTTTTTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ14_chr19_48450574_48471980	48471166	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02630.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02630.hp2 HG03041.hp1 HG03225.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 others(3): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0004g0075	6	392	0.0153	22	c.63 others(33): Show c.6389_*6390insTGTGTGTGTGTGTGTGTGTGTG	KCNJ14	ENSG00000182324.7	transcript	ENST00000342291.3	protein_coding		4187		chr19	TogoVar
KCNJ16_chr17_70070225_70140608	70103296	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	330	0.0030	22	c.-19 others(41): Show c.-191+2531_-191+2532insGTGTATATATATATATATATAT	KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNJ16_chr17_70070225_70140608	70103296	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0313 a0001c0001t0010g0313	1	330	0.0030	22	c.-19 others(41): Show c.-191+2531_-191+2532insGTGTGTGTATATATATATATAT	KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
KCNJ16_chr17_70070225_70140608	70110480	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	330	0.0030	22	c.-19 others(41): Show c.-191+9715_-191+9716insACACACACACACACACACACAC	KCNJ16	ENSG00000153822.15	transcript	ENST00000392671.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results