Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KAT8_chr16_31112664_31136359	31117369	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	290	0.0035	28	c.-31 others(37): Show c.-313_-312insAAATAAATAAATAAATAAATAAATAAAT	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding		294		chr16	TogoVar
KATNBL1_chr15_34135674_34215096	34195690	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	344	0.0029	28	c.-15 others(47): Show c.-15+14260_-15+14261insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNIP_chr16_27545144_27785344	27690363	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATGATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18962.hp2 HG03041.hp2 NA18962.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0030 a0001c0001 a0004c0030	a0001c0001t0001 a0004c0030t0005 a0001c0001t0001 a0004c0030t0005	a0001c0001t0001g0010 a0004c0030t0005g0115 a0001c0001t0001g0010 a0004c0030t0005g0115	2	152	0.0132	28	c.941 others(45): Show c.941-7965_941-7964insAGATAGATAGATAGATAGATAGATGATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	8/27			chr16	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp2 HG02523.hp1 others(7): Show HG00408.hp2 HG02109.hp2 HG02523.hp1 HG02602.hp2 HG03927.hp2 NA18963.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0002c0002t0029 a0002c0002t0030 a0006c0009t0001	a0001c0001t0002g0129 a0001c0001t0003g0018 a0001c0001t0003g0135 others(7): Show a0001c0001t0002g0129 a0001c0001t0003g0018 a0001c0001t0003g0135 a0001c0001t0005g0014 a0001c0001t0007g0087 a0001c0001t0007g0111 a0001c0001t0017g0023 a0002c0002t0029g0065 a0002c0002t0030g0076 a0006c0009t0001g0034	10	146	0.0685	28	c.226 others(47): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(21): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	146	0.0069	28	c.227 others(47): Show c.227-77341_227-77340insGAGAGGGAGGGAGGGAGGGAGGGAGG GA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15048730	A A	ATGGGTCG others(21): Show ATGGGTCGTCGATCCTGGGTCGTCGATCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0049 a0001c0001t0031g0049	1	146	0.0069	28	c.726 others(45): Show c.726+4594_726+4621dupCGATCCTGGGTCGTCGATCCTGGGTCGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01516.hp2 HG03834.hp2 others(2): Show HG00099.hp1 HG01516.hp2 HG03834.hp2 NA19056.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0002 a0002c0004 a0001c0012 a0002c0002 a0002c0004	a0001c0012t0006 a0002c0002t0001 a0002c0004t0024 a0001c0012t0006 a0002c0002t0001 a0002c0004t0024	a0001c0012t0006g0069 a0002c0002t0001g0027 a0002c0002t0001g0031 others(2): Show a0001c0012t0006g0069 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0081 a0002c0004t0024g0059	5	146	0.0343	28	c.154 others(45): Show c.1548-356_1548-355insCTCTCTCTCTCTCTCTCTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1968855	T T	TTTAAAAC others(21): Show TTTAAAACATCTATTACTGTTCAGATTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	389	0.0026	28	c.-59 others(39): Show c.-5989_-5988insTTAAAACATCTATTACTGTTCAGATTCG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4821		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969199	A A	ATATATTA others(21): Show ATATATTATAAATTTATATATATAAAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	389	0.0026	28	c.-56 others(39): Show c.-5645_-5644insTATATTATAAATTTATATATATAAAATC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4477		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969305	C C	CTATATTT others(21): Show CTATATTTATAAATTTTATATGGAAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02622.hp1 others(5): Show HG01891.hp1 HG02109.hp1 HG02622.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0033 a0001c0002t0011	a0001c0001t0001g0202 a0001c0001t0004g0290 a0001c0001t0004g0294 others(5): Show a0001c0001t0001g0202 a0001c0001t0004g0290 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0359 a0001c0001t0033g0292 a0001c0002t0011g0017 a0001c0002t0011g0296	8	389	0.0206	28	c.-55 others(39): Show c.-5539_-5538insTATATTTATAAATTTTATATGGAAAATG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4371		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1974065	A A	AAGGGGAG others(21): Show AAGGGGAGGCCGGCAGGGGAGAGGCGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	389	0.0026	28	c.-90 others(45): Show c.-909+151_-909+178dupAGGCGGGGAGGGGAGGCCGGCAGGGGAG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD3_chr11_106046098_106082347	106064543	C C	CTAAATAA others(21): Show CTAAATAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp1 NA19240.hp2 HG02622.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0008 a0001c0001t0014	a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0014g0211 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0014g0211	3	366	0.0082	28	c.-12 others(45): Show c.-12-5435_-12-5434insTTTATTTATTTATTTATTTATTTATTTA	KBTBD3	ENSG00000182359.15	transcript	ENST00000531837.2	protein_coding	2/3			chr11	TogoVar
KCNAB1_chr3_156115578_156543605	156147959	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0120 a0001c0002t0003g0120	1	124	0.0081	28	c.275 others(47): Show c.275+27074_275+27075insACACACACACACACACACACACACAC GC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156354120	G G	GTATATAT others(21): Show GTATATATATATATATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	124	0.0081	28	c.276 others(47): Show c.276-67484_276-67457dupATATATATATATGTGTATATATATAT AT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNB2_chr8_72532225_72943349	72882520	T T	TGAGAGAG others(21): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp2 HG01109.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0066 a0001c0001t0002g0067	2	164	0.0122	28	c.580 others(47): Show c.580-53406_580-53379dupGAGAGAGAGAGAGAGAGAGAGAGAGA GA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72920453	C C	CTATATAT others(21): Show CTATATATATATATATATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03710.hp2 NA20129.hp1 HG00323.hp1 HG03710.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0029 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0001g0029 a0001c0001t0003g0162 a0001c0001t0003g0163	3	164	0.0183	28	c.580 others(47): Show c.580-15479_580-15478insATATATATATATATGTGTGTGTGTAT AT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC1_chr11_17729781_17788057	17734263	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG03041.hp1 HG00639.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0071 a0001c0002t0001g0114 a0001c0001t0002g0071 a0001c0002t0001g0114	2	332	0.0060	28	c.-17 others(39): Show c.-1740_-1739insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	KCNC1	ENSG00000129159.9	transcript	ENST00000265969.8	protein_coding		517		chr11	TogoVar
KCNC2_chr12_75035078_75214839	75084290	T T	TAGATAGA others(21): Show TAGATAGATAGATAGATAGATAGATGATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19030.hp1 HG02486.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0098 a0001c0001t0001g0100	2	316	0.0063	28	c.688 others(47): Show c.688-32974_688-32973insTATCATCTATCTATCTATCTATCTAT CT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75138979	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01257.hp1 HG01934.hp1 HG01081.hp2 HG01257.hp1 HG01934.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0002c0009t0002 a0001c0001t0002 a0001c0001t0004 a0002c0009t0002	a0001c0001t0002g0034 a0001c0001t0004g0174 a0002c0009t0002g0018 a0001c0001t0002g0034 a0001c0001t0004g0174 a0002c0009t0002g0018	3	316	0.0095	28	c.687 others(47): Show c.687+68317_687+68318insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCND3_chr1_111765662_111994668	111965438	C C	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18984.hp2 NA19012.hp2 others(1): Show HG01255.hp2 NA18984.hp2 NA19012.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0033 a0001c0001t0001g0139 a0001c0001t0002g0140 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0139 a0001c0001t0002g0140 a0001c0001t0022g0049	4	226	0.0177	28	c.110 others(49): Show c.1106+16155_1106+16182dupTGTGTGTGTGTGTGTGTGTGTGTG TGTG	KCND3	ENSG00000171385.11	transcript	ENST00000302127.5	protein_coding	2/7			chr1	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp1 NA18994.hp2 HG03017.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0157 a0001c0001t0041g0251 a0001c0001t0041g0157 a0001c0001t0041g0251	2	446	0.0045	28	c.10 others(39): Show c.1096_*1097insATATATATATATATATATATATATATAT	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3	1096		chr11	TogoVar
KCNG3_chr2_42437017_42498982	42452243	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03209.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0009	3	342	0.0088	28	c.666 others(45): Show c.666-7665_666-7664insAAAATATATATATATATATATATATATA	KCNG3	ENSG00000171126.8	transcript	ENST00000306078.2	protein_coding	1/1			chr2	TogoVar
KCNH1_chr1_210673314_211139148	210806822	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0138 a0001c0001t0010g0138	1	164	0.0061	28	c.146 others(47): Show c.1463-2657_1463-2656insATATATATATATATATATATATATAT AT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210832907	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	164	0.0061	28	c.146 others(49): Show c.1463-28742_1463-28741insATATATATATATATATATATATAT ATAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856877	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0087 a0001c0001t0018g0087	1	164	0.0061	28	c.146 others(49): Show c.1463-52712_1463-52711insTATATATATATATATATATATATA TATA	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(21): Show GATATATAGATATATATATATATAGATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	164	0.0061	28	c.559 others(47): Show c.559-25786_559-25785insATATCTATATATATATATATCTATAT AT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(21): Show GATATATAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02717.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG02717.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032	a0001c0001t0003g0055 a0001c0001t0004g0107 a0001c0001t0004g0112 others(1): Show a0001c0001t0003g0055 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0032g0011	4	164	0.0244	28	c.559 others(47): Show c.559-25786_559-25785insATATATATATATATATATATCTATAT AT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02165.hp2 HG02258.hp1 others(3): Show HG01256.hp1 HG02165.hp2 HG02258.hp1 HG03471.hp2 NA19007.hp1 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0007 a0003c0008t0007	a0001c0001t0002g0095 a0001c0001t0002g0157 a0001c0001t0005g0007 others(3): Show a0001c0001t0002g0095 a0001c0001t0002g0157 a0001c0001t0005g0007 a0001c0002t0001g0094 a0001c0002t0007g0073 a0003c0008t0007g0024	6	164	0.0366	28	c.559 others(47): Show c.559-25786_559-25785insATATATATATATATATATATATATAT AT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10			chr1	TogoVar
KCNH5_chr14_62694464_63050458	62817738	A A	AATATATT others(21): Show AATATATTCTAGGAATATATTATATTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00609.hp2 others(42): Show HG00323.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG01891.hp2 HG01928.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02523.hp1 HG02559.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 NA18612.hp2 NA18940.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18991.hp1 NA18993.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19064.hp1 NA19074.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0004t0012 a0001c0005t0002 a0002c0002t0007	a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0180 others(42): Show a0001c0001t0001g0101 a0001c0001t0001g0113 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0207 a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0103 a0001c0001t0002g0115 a0001c0001t0002g0137 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0003g0112 a0001c0001t0010g0102 a0001c0001t0010g0161 a0001c0001t0018g0033 a0001c0001t0018g0044 a0001c0001t0018g0049 a0001c0001t0022g0190 a0001c0001t0023g0069 a0001c0001t0023g0142 a0001c0001t0031g0216 a0001c0001t0032g0039 a0001c0001t0033g0046 a0001c0001t0034g0204 a0001c0001t0035g0016 a0001c0001t0038g0156 a0001c0001t0039g0160 a0001c0004t0012g0048 a0001c0005t0002g0081 a0002c0002t0007g0070	45	224	0.2009	28	c.157 others(49): Show c.1570-15185_1570-15158dupAGGAATATAATATATTCCTAGAAT ATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	8/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	63024213	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	224	0.0045	28	c.74- others(43): Show c.74-7260_74-7259insATATTTTTTTTTTTTTTTTTTTTTTTTT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	1/10			chr14	TogoVar
KCNH7_chr2_162366407_162843767	162429383	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18965.hp2 NA18970.hp2 others(2): Show NA18959.hp1 NA18965.hp2 NA18970.hp2 NA18975.hp1 NA18982.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0054 a0001c0003t0001g0065 a0001c0003t0001g0089 others(2): Show a0001c0003t0001g0054 a0001c0003t0001g0065 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0003g0100	5	100	0.0500	28	c.195 others(47): Show c.1954+5814_1954+5815insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	8/15			chr2	TogoVar
KCNH8_chr3_19143510_19540642	19258947	C C	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0099 a0001c0004t0001g0099	1	134	0.0075	28	c.310 others(45): Show c.310+5061_310+5062insCTCTCTATATATATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19258947	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	134	0.0075	28	c.310 others(45): Show c.310+5061_310+5062insCTCTCTCTATATATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19258947	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0097 a0001c0004t0001g0097	1	134	0.0075	28	c.310 others(45): Show c.310+5061_310+5062insCTCTCTCTCTATATATATATATATATAT	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH8_chr3_19143510_19540642	19308705	T T	TCCCCCTC others(21): Show TCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	134	0.0075	28	c.442 others(47): Show c.442+27377_442+27378insCCCCTCTCCCCCTCTCCCCCTCTCCC CC	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(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	134	0.0075	28	c.443 others(47): Show c.443-16204_443-16203insTATATATATATATATATATATATATA TA	KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170589794	T T	TGTGGTGC others(21): Show TGTGGTGCGATGCGGTGTGGTGCGGTGCG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01192.hp2 HG01256.hp1 others(9): Show HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG03516.hp1 HG04199.hp2 NA18961.hp2 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0116 a0001c0001t0001g0156 a0001c0001t0002g0173 others(9): Show a0001c0001t0001g0116 a0001c0001t0001g0156 a0001c0001t0002g0173 a0001c0001t0002g0196 a0001c0001t0003g0082 a0001c0001t0003g0088 a0001c0001t0003g0202 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0005g0042 a0001c0001t0005g0052 a0001c0001t0007g0043	12	218	0.0551	28	c.61+ others(45): Show c.61+85164_61+85165insGTGCGATGCGGTGTGGTGCGGTGCGGTG	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP1_chr5_170499020_170741632	170597820	T T	TATATATA others(21): Show TATATATATATATATATATATATATGAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	218	0.0046	28	c.61+ others(45): Show c.61+93197_61+93198insATATATATATATATGAAAATATATATAT	KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	20988000	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	80	0.0125	28	c.62- others(47): Show c.62-105292_62-105291insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21015681	A A	ATTGTATT others(21): Show ATTGTATTAATATAATATAATATAGTATG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	80	0.0125	28	c.62- others(47): Show c.62-132973_62-132972insCATACTATATTATATTATATTAATAC AA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21046578	A A	AATTTATT others(21): Show AATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02615.hp1 HG01433.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0031 a0001c0001t0005g0034 a0001c0001t0001g0031 a0001c0001t0005g0034	2	80	0.0250	28	c.62- others(47): Show c.62-163897_62-163870dupAAATAAATAAATAAATAAATAAATAA AT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21112025	G G	GTATCCAT others(21): Show GTATCCATCTATCTATCTACCTATCTATC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0071	1	80	0.0125	28	c.62- others(47): Show c.62-229317_62-229316insGATAGATAGGTAGATAGATAGATGGA TA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21112025	G G	GTATCCAT others(21): Show GTATCCATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02257.hp2 others(4): Show HG01106.hp1 HG02055.hp2 HG02257.hp2 HG02572.hp1 HG03041.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0005 a0001c0001t0002g0020 a0001c0001t0004g0067 others(4): Show a0001c0001t0001g0005 a0001c0001t0002g0020 a0001c0001t0004g0067 a0001c0001t0012g0045 a0001c0002t0001g0073 a0001c0002t0006g0019 a0001c0002t0006g0050	7	80	0.0875	28	c.62- others(47): Show c.62-229317_62-229316insGATAGATAGATAGATAGATAGATGGA TA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21112050	T T	TATCTATC others(21): Show TATCTATCTATCTATCTATATATATATCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0028 a0001c0002t0004g0028	1	80	0.0125	28	c.62- others(47): Show c.62-229342_62-229341insGGATATATATATAGATAGATAGATAG AT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21177858	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0071 a0001c0002t0004g0071	1	80	0.0125	28	c.62- others(47): Show c.62-295150_62-295149insTATATATATATATATATATATATATA TA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21226354	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp2 HG02145.hp1 others(5): Show HG01106.hp2 HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02622.hp2 HG03041.hp1 HG03041.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006	a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0003g0002 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0003g0002 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0004g0028 a0001c0002t0004g0071 a0001c0002t0006g0019	8	80	0.1000	28	c.62- others(47): Show c.62-343673_62-343646dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21400465	T T	TTTCTCCT others(21): Show TTTCTCCTCTCCTCTCCTCTCCTCTCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02698.hp2 others(5): Show HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 NA18948.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001 a0001c0004t0004	a0001c0001t0001g0044 a0001c0001t0002g0001 a0001c0001t0003g0080 others(5): Show a0001c0001t0001g0044 a0001c0001t0002g0001 a0001c0001t0003g0080 a0001c0001t0009g0004 a0001c0001t0009g0057 a0001c0001t0015g0023 a0001c0002t0001g0049 a0001c0004t0004g0058	8	80	0.1000	28	c.62- others(47): Show c.62-517757_62-517756insGAGGAGAGGAGAGGAGAGGAGAGGAG AA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21501688	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	80	0.0125	28	c.61+ others(47): Show c.61+446855_61+446882dupCACACACACACACACACACACACACA CA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21504492	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	80	0.0125	28	c.61+ others(47): Show c.61+444078_61+444079insCCTTTCTTTCTTTCTTTCTTTCTTTC TT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21519418	A A	ATATATAC others(21): Show ATATATACATATGTGTGTATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	80	0.0125	28	c.61+ others(47): Show c.61+429152_61+429153insCACATACATATACACACATATGTATA TA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar

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