Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
JSRP1_chr19_2247252_2261417	2249776	G G	GAAGATTT others(29): Show GAAGATTTGTTCTTTTTTTTTTCTTTATGTTCCTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	1	436	0.0023	36	c.25 others(47): Show c.2552_*2553insAACAGGAACATAAAGAAAAAAAAAAGAACAAATC TT		JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding					2475		chr19	TogoVar
KALRN_chr3_124028369_124731325	124054357	T T	TTAAAAAT others(29): Show TTAAAAATAAAAATAAAAATAAAAATAAAAATAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0115 a0001c0014t0007g0116 a0001c0014t0007g0115 a0001c0014t0007g0116	2	116	0.0172	36	c.73+ others(53): Show c.73+20573_73+20574insATAAAAATAAAAATAAAAATAAAAATAA AAATAAAA		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124673514	A A	ACATATAG others(29): Show ACATATAGAATATATATGTATATCCTGTATGTATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0008 a0001c0022t0001g0008	1	116	0.0086	36	c.694 others(53): Show c.6943-755_6943-720dupCCTGTATGTATATGCATATAGAATATAT ATGTATAT		KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	48/59					INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(29): Show TATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03540.hp2 HG01934.hp2 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0003c0003 a0001c0012 a0003c0003	a0001c0012t0001 a0003c0003t0001 a0001c0012t0001 a0003c0003t0001	a0001c0012t0001g0221 a0003c0003t0001g0048 a0001c0012t0001g0221 a0003c0003t0001g0048	2	406	0.0049	36	c.-28 others(53): Show c.-28-2436_-28-2435insGTGTGTGTGTGTATATATATATATATAT ATATATAT		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10						chr19	TogoVar
KANSL1_chr17_46024916_46198429	46045440	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0303 a0003c0004t0005g0303	1	321	0.0031	36	c.202 others(55): Show c.2020+5092_2020+5093insATATATATATATATATATATATATAT ATTTTTTTTT		KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	7/14						chr17	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp2 NA18954.hp1 NA18954.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0002 a0004c0005t0001g0033 a0001c0001t0001g0002 a0004c0005t0001g0033	2	380	0.0053	36	c.37 others(47): Show c.3761_*3762insAAAATATATATATATATATATATATATATATATA TA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KAT2A_chr17_42108111_42126367	42120260	T T	TCACCTTG others(29): Show TCACCTTGAAGAGGTAGAAGAGATTCAGACCTTCTTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0049 a0004c0008t0001g0049	1	354	0.0028	36	c.573 others(43): Show c.573_574insCAAGAAGGTCTGAATCTCTTCTACCTCTTCAAGGTG	p.Asp others(49): Show p.Asp191_Thr192insGlnGluGlyLeuAsnLeuPheTyrLeuPheLy sVal	KAT2A	ENSG00000108773.11	transcript	ENST00000225916.10	protein_coding	3/18	636/3115	573/2514	191/837			chr17	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18954.hp2 NA18992.hp2 others(1): Show HG04184.hp1 NA18954.hp2 NA18992.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0058 others(1): Show a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0150	4	374	0.0107	36	c.230 others(55): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNBL1_chr15_34135674_34215096	34181856	C C	CATATATA others(29): Show CATATATATATCCATATATATATATCCATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01192.hp1 HG01934.hp1 others(2): Show HG00323.hp2 HG01192.hp1 HG01934.hp1 NA18979.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0016 others(2): Show a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0049 a0001c0001t0003g0339	5	344	0.0145	36	c.-14 others(55): Show c.-14-18167_-14-18166insATATATATATGGATATATATATATGG ATATATATAT		KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9						chr15	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAGA others(29): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	146	0.0069	36	c.227 others(55): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01192.hp2 HG02602.hp2 others(1): Show HG00621.hp1 HG01192.hp2 HG02602.hp2 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0002c0007 others(1): Show a0002c0002 a0002c0004 a0002c0007 a0004c0009	a0002c0002t0001 a0002c0004t0001 a0002c0007t0001 others(1): Show a0002c0002t0001 a0002c0004t0001 a0002c0007t0001 a0004c0009t0001	a0002c0002t0001g0015 a0002c0004t0001g0032 a0002c0007t0001g0008 others(1): Show a0002c0002t0001g0015 a0002c0004t0001g0032 a0002c0007t0001g0008 a0004c0009t0001g0034	4	146	0.0274	36	c.154 others(53): Show c.1548-356_1548-355insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(29): Show GCCGCCCCCGCCGCCCCCGCCCCCGCCCCCGCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	434	0.0023	36	c.-69 others(45): Show c.-691_-690insGGGCGGCGGGGGCGGGGGCGGGGGCGGCGGGGGCGG		KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding					128		chr7	TogoVar
KCNB1_chr20_49358877_49487668	49463721	C C	CACACACA others(29): Show CACACACACAGATGTTAAGTGCAAAGACAACACACAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp2 HG02129.hp2 others(13): Show HG00323.hp1 HG01433.hp2 HG02129.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02970.hp1 HG02976.hp1 HG04184.hp1 HG06807.hp2 NA18964.hp1 NA18970.hp2 NA18985.hp1 NA19074.hp1 NA19090.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0062 a0001c0001t0065 a0001c0001t0068 a0001c0001t0074 a0001c0001t0124 a0005c0008t0012	a0001c0001t0001g0135 a0001c0001t0003g0208 a0001c0001t0011g0142 others(13): Show a0001c0001t0001g0135 a0001c0001t0003g0208 a0001c0001t0011g0142 a0001c0001t0012g0059 a0001c0001t0012g0236 a0001c0001t0013g0121 a0001c0001t0018g0120 a0001c0001t0054g0101 a0001c0001t0055g0118 a0001c0001t0058g0173 a0001c0001t0062g0119 a0001c0001t0065g0199 a0001c0001t0068g0241 a0001c0001t0074g0079 a0001c0001t0124g0235 a0005c0008t0012g0049	16	278	0.0576	36	c.567 others(55): Show c.567+18192_567+18193insATGTGTGTTGTCTTTGCACTTAACAT CTGTGTGTGT		KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1						chr20	TogoVar
KCNE3_chr11_74449841_74472549	74456155	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0162 a0001c0001t0064g0162	1	446	0.0022	36	c.10 others(47): Show c.1096_*1097insATATATATATATATATATATATATATATATATAT AT		KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding	3/3				1096		chr11	TogoVar
KCNH1_chr1_210673314_211139148	210759156	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACAAACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02896.hp1 others(3): Show HG01884.hp2 HG02258.hp2 HG02896.hp1 HG03195.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0033 a0001c0002t0001 a0001c0001t0002 a0001c0001t0033 a0001c0002t0001	a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0033g0161 others(3): Show a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0033g0161 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145	6	164	0.0366	36	c.211 others(57): Show c.2112+16191_2112+16192insGTGTGTTTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10						chr1	TogoVar
KCNH1_chr1_210673314_211139148	210856898	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18998.hp1 HG00423.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0008 a0001c0010t0001 a0001c0001t0008 a0001c0010t0001	a0001c0001t0008g0069 a0001c0010t0001g0017 a0001c0001t0008g0069 a0001c0010t0001g0017	2	164	0.0122	36	c.146 others(57): Show c.1463-52733_1463-52732insTTATATATATATATATATATATAT ATATATATATAT		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	7/10						chr1	TogoVar
KCNH1_chr1_210673314_211139148	211045041	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG01346.hp1 others(9): Show HG00438.hp1 HG00733.hp2 HG01346.hp1 HG01943.hp1 HG02922.hp2 HG02970.hp1 NA18949.hp1 NA18969.hp1 NA19043.hp1 NA19062.hp2 NA19070.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0002t0001 a0001c0002t0007 a0001c0003t0010	a0001c0001t0002g0040 a0001c0001t0002g0088 a0001c0001t0002g0093 others(9): Show a0001c0001t0002g0040 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0003g0018 a0001c0001t0008g0105 a0001c0001t0012g0136 a0001c0001t0021g0045 a0001c0002t0001g0085 a0001c0002t0001g0120 a0001c0002t0007g0027 a0001c0003t0010g0042	12	164	0.0732	36	c.559 others(55): Show c.559-25786_559-25785insATATATATATATATATATATATATAT ATATATATAT		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	5/10						chr1	TogoVar
KCNH5_chr14_62694464_63050458	62853456	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	224	0.0045	36	c.137 others(55): Show c.1370-3605_1370-3604insATATATATATATATATATATATATAT ATATATATAT		KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10						chr14	TogoVar
KCNH5_chr14_62694464_63050458	63024213	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	224	0.0045	36	c.74- others(51): Show c.74-7260_74-7259insATATATATATATATATTTTTTTTTTTTTTT TTTTTT		KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	1/10						chr14	TogoVar
KCNH5_chr14_62694464_63050458	63024213	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp1 HG03453.hp2 HG02886.hp1 HG03209.hp1 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0001c0001t0053 a0002c0002t0003 a0001c0001t0023 a0001c0001t0053 a0002c0002t0003	a0001c0001t0023g0142 a0001c0001t0053g0141 a0002c0002t0003g0140 a0001c0001t0023g0142 a0001c0001t0053g0141 a0002c0002t0003g0140	3	224	0.0134	36	c.74- others(51): Show c.74-7260_74-7259insATATATATATATATATATTTTTTTTTTTTT TTTTTT		KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	1/10						chr14	TogoVar
KCNH8_chr3_19143510_19540642	19206168	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	134	0.0075	36	c.77- others(53): Show c.77-47485_77-47484insGTGTGTGTGTGTGTGTGTGTATATATAT ATATATAT		KCNH8	ENSG00000183960.9	transcript	ENST00000328405.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNIP1_chr5_170499020_170741632	170618508	G G	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGGAGGGAGGGAGGAAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	218	0.0046	36	c.62- others(55): Show c.62-100239_62-100238insAAGGGAGGGAGGGAGGAAAGGAGGAA GGAAGGAAGG		KCNIP1	ENSG00000182132.15	transcript	ENST00000328939.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNIP4_chr4_20723606_21953772	21226354	A A	AGAAGGAA others(29): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02257.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0067 a0001c0003t0003g0029 a0001c0001t0004g0067 a0001c0003t0003g0029	2	80	0.0250	36	c.62- others(55): Show c.62-343646_62-343645insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTC		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21234210	G G	GTATATTA others(29): Show GTATATTATATATAACATATATAACATATATATAACA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	80	0.0125	36	c.62- others(55): Show c.62-351537_62-351502dupTGTTATATATATGTTATATATGTTAT ATATAATATA		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21798562	A A	AAAAGAAA others(29): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	80	0.0125	36	c.61+ others(55): Show c.61+150008_61+150009insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049671	T T	TTATTTAT others(29): Show TTATTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	408	0.0025	36	c.1-7 others(49): Show c.1-7175_1-7140dupTATATATATATATATATATATATATATATATA AATA		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049675	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	408	0.0025	36	c.1-7 others(49): Show c.1-7144_1-7143insTAAATATATATATATATATATATATATATATA TATA		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049677	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA19064.hp2 HG03490.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0181 a0002c0002t0004g0218 a0001c0001t0003g0181 a0002c0002t0004g0218	2	408	0.0049	36	c.1-7 others(49): Show c.1-7146_1-7145insAATATATATATATATATATATATATATATATA TATA		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049679	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0159 a0003c0003t0006g0159	1	408	0.0025	36	c.1-7 others(49): Show c.1-7148_1-7147insAATATATATATATATATATATATATATATATA TATA		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049681	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0124 a0001c0001t0011g0124	1	408	0.0025	36	c.1-7 others(49): Show c.1-7150_1-7149insAATATATATATATATATATATATATATATATA TATA		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049683	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp2 HG02258.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0030 a0001c0001t0014 a0001c0001t0030	a0001c0001t0014g0280 a0001c0001t0030g0215 a0001c0001t0014g0280 a0001c0001t0030g0215	2	408	0.0049	36	c.1-7 others(49): Show c.1-7152_1-7151insAATATATATATATATATATATATATATATATA TATA		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ10_chr1_160032467_160075160	160049685	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	408	0.0025	36	c.1-7 others(49): Show c.1-7154_1-7153insAATATATATATATATATATATATATATATATA TATA		KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1						chr1	TogoVar
KCNJ15_chr21_38251991_38312357	38256360	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02630.hp2 others(5): Show HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp2 HG02965.hp1 HG03453.hp1 HG03453.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0001t0016 a0001c0001t0049 others(5): Show a0001c0001t0010 a0001c0001t0016 a0001c0001t0049 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0003t0005 a0001c0003t0069	a0001c0001t0010g0201 a0001c0001t0016g0057 a0001c0001t0049g0217 others(5): Show a0001c0001t0010g0201 a0001c0001t0016g0057 a0001c0001t0049g0217 a0001c0001t0068g0069 a0001c0001t0071g0193 a0001c0001t0073g0200 a0001c0003t0005g0031 a0001c0003t0069g0208	8	406	0.0197	36	c.-94 others(45): Show c.-942_-941insTATATATATATATATATATATATATATATATATATA		KCNJ15	ENSG00000157551.19	transcript	ENST00000398938.7	protein_coding					630		chr21	TogoVar
KCNJ1_chr11_128833020_128872296	128868433	T T	TATATATT others(29): Show TATATATTATGTATTATATTCTAATATATTATATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	301	0.0033	36	c.-14 others(47): Show c.-1453_-1452insGTTATATAATATATTAGAATATAATACATAATAT AT		KCNJ1	ENSG00000151704.16	transcript	ENST00000392666.6	protein_coding					1138		chr11	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATACATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG02257.hp1 HG00099.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0036 a0001c0001t0009 a0001c0001t0036	a0001c0001t0009g0001 a0001c0001t0036g0014 a0001c0001t0009g0001 a0001c0001t0036g0014	2	198	0.0101	36	c.85 others(47): Show c.8568_*8569insATATATGTATATATATATATATATATATATATAT AT		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4				8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATACAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0136 a0001c0001t0136	a0001c0001t0136g0046 a0001c0001t0136g0046	1	198	0.0051	36	c.85 others(47): Show c.8568_*8569insATGTATATATATATATATATATATATATATATAT AT		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4				8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 HG02071.hp1 HG01975.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0162 a0001c0001t0024 a0001c0001t0162	a0001c0001t0024g0083 a0001c0001t0162g0017 a0001c0001t0024g0083 a0001c0001t0162g0017	2	198	0.0101	36	c.85 others(47): Show c.8568_*8569insATATATATATATATATATATATATATATATATAT AT		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4				8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616608	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0193 a0001c0001t0057g0193	1	198	0.0051	36	c.85 others(47): Show c.8550_*8551insGTATATATATATATATATATATATATATATATAT AT		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4				8550		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37630134	C C	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02040.hp2 NA18612.hp2 others(2): Show HG01243.hp2 HG02040.hp2 NA18612.hp2 NA18957.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0093 a0001c0001t0125 a0001c0001t0133 others(2): Show a0001c0001t0093 a0001c0001t0125 a0001c0001t0133 a0001c0003t0116 a0001c0003t0130	a0001c0001t0093g0039 a0001c0001t0125g0026 a0001c0001t0133g0073 others(2): Show a0001c0001t0093g0039 a0001c0001t0125g0026 a0001c0001t0133g0073 a0001c0003t0116g0065 a0001c0003t0130g0185	5	198	0.0253	36	c.947 others(53): Show c.947-4651_947-4650insCACACACACACACACACACACACACACA CACACACA		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3						chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37630162	T T	TGTGTGTG others(29): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0180 a0001c0001t0122g0180	1	198	0.0051	36	c.947 others(53): Show c.947-4679_947-4678insCACCACACACACACACACACACACACAC ACACACAC		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3						chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37712703	T T	TTCCTCCC others(29): Show TTCCTCCCTTTCTCTTCCCTCCCTCCTCCTCTCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0159 a0001c0002t0159	a0001c0002t0159g0058 a0001c0002t0159g0058	1	198	0.0051	36	c.946 others(53): Show c.946+1507_946+1508insGGGAGAGAGGAGGAGGGAGGGAAGAGAA AGGGAGGA		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3						chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37853846	G G	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19064.hp1 HG03209.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0187 a0001c0001t0037 a0001c0001t0187	a0001c0001t0037g0041 a0001c0001t0187g0195 a0001c0001t0037g0041 a0001c0001t0187g0195	2	198	0.0101	36	c.-27 others(55): Show c.-27-13138_-27-13137insTATATATATATATATATATATATATA TATATATACA		KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3						chr21	TogoVar
KCNK13_chr14_90056994_90190853	90143146	A A	ACTTTCTT others(29): Show ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0317 a0003c0003t0001g0317	1	320	0.0031	36	c.335 others(55): Show c.335-40933_335-40932insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK1_chr1_233609106_233677514	233662238	C C	CCTTCTTC others(29): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	422	0.0024	36	c.356 others(53): Show c.356-4322_356-4321insTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT		KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00733.hp2 HG01099.hp2 others(8): Show HG00438.hp1 HG00733.hp2 HG01099.hp2 HG01361.hp1 HG02572.hp2 HG02683.hp1 NA18949.hp2 NA18971.hp1 NA19004.hp1 NA19082.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0003 a0001c0005 a0002c0002 a0003c0003	a0001c0005t0070 a0002c0002t0008 a0002c0002t0029 others(4): Show a0001c0005t0070 a0002c0002t0008 a0002c0002t0029 a0002c0002t0057 a0002c0002t0058 a0002c0002t0071 a0003c0003t0008	a0001c0005t0070g0014 a0002c0002t0008g0002 a0002c0002t0008g0005 others(5): Show a0001c0005t0070g0014 a0002c0002t0008g0002 a0002c0002t0008g0005 a0002c0002t0029g0002 a0002c0002t0057g0002 a0002c0002t0058g0005 a0002c0002t0071g0002 a0003c0003t0008g0002	11	398	0.0276	36	c.14 others(47): Show c.1497_*1498insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG		KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3				1498	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGAAAG others(29): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0096 a0001c0002t0008g0096	1	106	0.0094	36	c.290 others(55): Show c.2902+3719_2902+3754dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA20752.hp1 HG01168.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0074 a0001c0002t0008g0102 a0001c0002t0002g0074 a0001c0002t0008g0102	2	106	0.0189	36	c.290 others(55): Show c.2902+3754_2902+3755insTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0079	1	106	0.0094	36	c.290 others(55): Show c.2902+3754_2902+3755insTCTTTCTTTCTTTCTTCCTTCCTTCC TTCCTTCCTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	106	0.0094	36	c.290 others(55): Show c.2902+3754_2902+3755insTCTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27						chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(29): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	106	0.0094	36	c.290 others(55): Show c.2902+3754_2902+3755insTCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT		KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27						chr10	TogoVar

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