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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(27): Show CACACACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0136 a0005c0007t0136	a0005c0007t0136g0319 a0005c0007t0136g0319	1	362	0.0028	34	c.373 others(53): Show c.3733+2834_3733+2835insATATATATATATATGTGTGTGTGTGT GTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(27): Show CACACACACACACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	362	0.0028	34	c.373 others(53): Show c.3733+2834_3733+2835insATATATATATATATATGTGTGTGTGT GTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(27): Show CACACACACACACACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0198 a0001c0002t0050g0198	1	362	0.0028	34	c.373 others(53): Show c.3733+2834_3733+2835insATATATATATATATATATGTGTGTGT GTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HEG1_chr3_124960710_125060997	124987952	C C	CACACACA others(27): Show CACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG02965.hp1 HG03139.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0022 a0007c0011t0022	a0007c0011t0022g0002 a0007c0011t0022g0002	2	362	0.0055	34	c.373 others(53): Show c.3733+2834_3733+2835insATATATATATATATATATATATGTGT GTGTGTGT	HEG1	ENSG00000173706.15	transcript	ENST00000311127.9	protein_coding	14/16			chr3	TogoVar
HELB_chr12_66297493_66343199	66327064	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0262 a0005c0006t0002g0262	1	390	0.0026	34	c.267 others(53): Show c.2670+1939_2670+1940insTATATATATATATATATATATATATA TATATATA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0184 a0002c0001t0002g0184	1	390	0.0026	34	c.267 others(53): Show c.2670+1941_2670+1942insAATATATATATATATATATATATATA TATATATA	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
HELZ_chr17_67065444_67250196	67089668	T T	TATATATA others(27): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0062 a0002c0002t0003g0062	1	274	0.0037	34	c.524 others(53): Show c.5242-2588_5242-2587insCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	31/32			chr17	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	368	0.0027	34	c.243 others(51): Show c.2434+341_2434+374dupTATATATATATATATATATATATATATA TATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0067 a0002c0018t0002g0067	1	216	0.0046	34	c.374 others(53): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC3_chr4_88587480_88713539	88699189	C C	CCCACCCA others(27): Show CCCACCCACCCAGCCCCACCCCACTCATCGACCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp1 HG02559.hp1 others(1): Show HG01167.hp1 HG02055.hp1 HG02559.hp1 HG02809.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0013 a0001c0001 a0001c0004 a0005c0013	a0001c0001t0005 a0001c0004t0004 a0005c0013t0005 a0001c0001t0005 a0001c0004t0004 a0005c0013t0005	a0001c0001t0005g0027 a0001c0001t0005g0255 a0001c0004t0004g0277 others(1): Show a0001c0001t0005g0027 a0001c0001t0005g0255 a0001c0004t0004g0277 a0005c0013t0005g0264	4	296	0.0135	34	c.265 others(53): Show c.2658-4909_2658-4908insCCACCCACCCAGCCCCACCCCACTCA TCGACCCA	HERC3	ENSG00000138641.18	transcript	ENST00000402738.6	protein_coding	23/25			chr4	TogoVar
HERC6_chr4_88373852_88448097	88379687	A A	AATATATA others(27): Show AATATATATAATATATAAATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01167.hp1 others(15): Show HG00140.hp1 HG00639.hp2 HG01167.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03195.hp1 HG03225.hp2 HG03831.hp2 NA18906.hp1 NA19064.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0009 a0013	a0001c0001 a0001c0008 a0001c0019 others(5): Show a0001c0001 a0001c0008 a0001c0019 a0002c0005 a0004c0017 a0006c0006 a0009c0009 a0013c0018	a0001c0001t0001 a0001c0008t0001 a0001c0019t0001 others(5): Show a0001c0001t0001 a0001c0008t0001 a0001c0019t0001 a0002c0005t0001 a0004c0017t0001 a0006c0006t0001 a0009c0009t0001 a0013c0018t0001	a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 others(15): Show a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0008t0001g0071 a0001c0008t0001g0072 a0001c0008t0001g0075 a0001c0008t0001g0082 a0001c0019t0001g0077 a0002c0005t0001g0073 a0002c0005t0001g0074 a0002c0005t0001g0076 a0002c0005t0001g0078 a0002c0005t0001g0081 a0004c0017t0001g0080 a0006c0006t0001g0085 a0009c0009t0001g0087 a0013c0018t0001g0172	18	174	0.1035	34	c.199 others(49): Show c.199+574_199+575insTAATATATAAATATATAATATATAAATATA TATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88379990	T T	TATATATA others(27): Show TATATATAATATATAAATATATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02451.hp2 HG02300.hp2 HG02451.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0062 a0004c0004t0001g0166 a0002c0002t0001g0062 a0004c0004t0001g0166	2	174	0.0115	34	c.199 others(49): Show c.199+877_199+878insATATATAAATATATATATAATATATAAATA TATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380043	T T	TATATATA others(27): Show TATATATAATATATAAATATATATATAATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	174	0.0058	34	c.199 others(49): Show c.199+930_199+931insATATATAAATATATATATAATATATAAATA TATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380096	T T	TATATATA others(27): Show TATATATATAATATATAAATATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	174	0.0058	34	c.199 others(51): Show c.199+1020_199+1053dupATATATAAATATATATAATATATAAATA TATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380234	A A	AATATATA others(27): Show AATATATATATAATATATAAATATATATAATAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0003 a0005c0007t0001g0003	1	174	0.0058	34	c.199 others(51): Show c.199+1123_199+1124insTAATATATAAATATATATAATAAATATA TATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERPUD2_chr7_35627659_35700135	35682330	T T	TGTGTGTG others(27): Show TGTGTGTGTATATATAGATATATACACATACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02004.hp1 HG02818.hp2 others(4): Show HG00673.hp1 HG02004.hp1 HG02818.hp2 NA18612.hp1 NA18959.hp1 NA18992.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0046 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0006g0069 a0001c0001t0006g0096	7	392	0.0179	34	c.148 others(51): Show c.148-9053_148-9052insGTGTGTATGTGTATATATCTATATATAC ACACAC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(27): Show ATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG03453.hp2 others(1): Show HG02257.hp1 HG02630.hp2 HG03453.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0001 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0008 a0001c0001t0007g0014 a0001c0001t0009g0018 a0001c0001t0001g0008 a0001c0001t0007g0014 a0001c0001t0009g0018	4	460	0.0087	34	c.-17 others(45): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HGD_chr3_120623172_120687239	120624712	G G	GTGTATAT others(27): Show GTGTATATATATGTGTATATACATATATGGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01516.hp2 HG02132.hp2 others(1): Show HG01106.hp1 HG01516.hp2 HG02132.hp2 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0076 others(1): Show a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0076 a0001c0004t0001g0243	4	374	0.0107	34	c.36 others(45): Show c.3667_*3668insTCTCTCCATATATGTATATACACATATATATACA	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		3459		chr3	TogoVar
HGD_chr3_120623172_120687239	120686942	A A	ACTTCAGG others(27): Show ACTTCAGGGAACAGTCACTTAGGGTTTATGGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	374	0.0027	34	c.-48 others(45): Show c.-4865_-4832dupCAGGCCATAAACCCTAAGTGACTGTTCCCTGAAG	HGD	ENSG00000113924.12	transcript	ENST00000283871.10	protein_coding		4704		chr3	TogoVar
HGF_chr7_81694010_81775047	81697231	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG03130.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0010 a0001c0001t0008 a0001c0002t0010	a0001c0001t0008g0029 a0001c0001t0008g0074 a0001c0002t0010g0104 a0001c0001t0008g0029 a0001c0001t0008g0074 a0001c0002t0010g0104	3	272	0.0110	34	c.53 others(45): Show c.5349_*5350insTTATATATATATATATATATATATATATATATAT	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding		1778		chr7	TogoVar
HGSNAT_chr8_43135464_43207855	43181081	T T	TGGAGGGA others(27): Show TGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG04199.hp1 HG02129.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0106 a0001c0001t0002g0058 a0001c0001t0001g0106 a0001c0001t0002g0058	2	234	0.0086	34	c.101 others(53): Show c.1013-1059_1013-1026dupGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181088	A A	AGAGGGAG others(27): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01168.hp2 HG01358.hp1 HG00423.hp1 HG01168.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0070 a0001c0001t0002g0205 a0001c0001t0002g0027 a0001c0001t0002g0070 a0001c0001t0002g0205	3	234	0.0128	34	c.101 others(53): Show c.1013-1053_1013-1020dupGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181094	A A	AGAGGGAG others(27): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	234	0.0043	34	c.101 others(53): Show c.1013-1047_1013-1014dupGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181100	A A	AGAGGGAG others(27): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA19079.hp2 HG01168.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0002g0022 a0001c0001t0001g0114 a0001c0001t0002g0022	2	234	0.0086	34	c.101 others(53): Show c.1013-1041_1013-1008dupGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181106	A A	AGAGGGAG others(27): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	234	0.0043	34	c.101 others(53): Show c.1013-1035_1013-1002dupGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(27): Show GTTTTGTTTTGTTTTGTTTTGTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	268	0.0037	34	c.104 others(55): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTGTTTTTTTT TTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HIBADH_chr7_27520442_27667883	27638308	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	326	0.0031	34	c.253 others(51): Show c.253-5864_253-5863insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIKESHI_chr11_86297240_86350943	86307413	A A	AATATATT others(27): Show AATATATTATGTGTAATATACATTATATATCAAAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03453.hp1 NA18522.hp2 HG03195.hp1 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291	3	398	0.0075	34	c.268 others(49): Show c.268+945_268+946insATATACATTATATATCAAATATATATTATG TGTA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86307547	A A	AATATATT others(27): Show AATATATTATGTGTAGTATACATTATATATCAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG01192.hp1 others(23): Show HG00323.hp2 HG00639.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01975.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02735.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 NA18906.hp2 NA18943.hp2 NA18946.hp2 NA18953.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0288 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353	26	398	0.0653	34	c.268 others(51): Show c.268+1095_268+1128dupCAAATATATATTATGTGTAGTATACATT ATATAT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86307577	C C	CAAATATA others(27): Show CAAATATATATTATGTGTAGTATACATTATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	398	0.0025	34	c.268 others(51): Show c.268+1162_268+1195dupTAAAATATATATTATGTGTAGTATACAT TATATA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02738.hp1 HG03669.hp2 HG02698.hp2 HG02738.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0175 a0001c0001t0003g0050 a0001c0001t0003g0175	3	404	0.0074	34	c.182 others(51): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIP1_chr7_75528298_75743941	75595283	C C	CCTTCCTT others(27): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTTTCTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG01257.hp2 others(2): Show HG01255.hp1 HG01255.hp2 HG01257.hp2 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0005t0009	a0001c0001t0001g0216 a0001c0001t0002g0104 a0001c0001t0003g0238 others(2): Show a0001c0001t0001g0216 a0001c0001t0002g0104 a0001c0001t0003g0238 a0001c0001t0011g0225 a0001c0005t0009g0077	5	254	0.0197	34	c.185 others(51): Show c.185-2770_185-2769insAGAGAAAAAGAAAGAAAGGAAGGAAGGA AGGAAG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	2/30			chr7	TogoVar
HK2_chr2_74829127_74898359	74882605	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG03669.hp1 others(4): Show HG01255.hp2 HG02280.hp1 HG03669.hp1 NA18522.hp1 NA18612.hp1 NA18988.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0006t0008 a0001c0011t0037 a0003c0003t0003	a0001c0001t0002g0221 a0001c0001t0002g0368 a0001c0001t0005g0116 others(4): Show a0001c0001t0002g0221 a0001c0001t0002g0368 a0001c0001t0005g0116 a0001c0001t0007g0185 a0001c0006t0008g0253 a0001c0011t0037g0244 a0003c0003t0003g0059	7	394	0.0178	34	c.183 others(51): Show c.1839+382_1839+383insTATATATATATATATATATATATATATA TATATA	HK2	ENSG00000159399.10	transcript	ENST00000290573.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp2 others(12): Show HG00423.hp2 HG00438.hp1 HG00609.hp2 HG02074.hp2 HG02165.hp2 HG02698.hp2 NA18612.hp1 NA18906.hp2 NA18945.hp1 NA18951.hp2 NA18972.hp2 NA18975.hp1 NA18986.hp2 NA19076.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0022	a0001c0001t0001g0321 a0001c0001t0002g0135 a0001c0001t0002g0137 others(12): Show a0001c0001t0001g0321 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0189 a0001c0001t0002g0198 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0002g0227 a0001c0001t0005g0155 a0001c0001t0008g0002 a0001c0001t0022g0334	15	344	0.0436	34	c.587 others(51): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT ATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMGB2_chr4_173326376_173339358	173331375	C C	CATATATA others(27): Show CATATATATATATATATATATATGTATATATACAT	splice_region_variant splice_region_variant	LOW	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	370	0.0027	34	c.70 others(43): Show c.704_*705insATGTATATATACATATATATATATATATATATAT	HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding	5/5			chr4	TogoVar
HMGB3_chrX_150978335_150995771	150979966	T T	TGAAGCCC others(27): Show TGAAGCCCATTCATCCTTCGCACCTTAGCAGACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	34	c.-34 others(45): Show c.-3416_-3415insGAAGCCCATTCATCCTTCGCACCTTAGCAGACAG	HMGB3	ENSG00000029993.15	transcript	ENST00000325307.12	protein_coding		3368		chrX	TogoVar
HMGCLL1_chr6_55429373_55584192	55477164	A A	AATATAAT others(27): Show AATATAATATATATTATATTTATATATTATATATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	334	0.0030	34	c.795 others(53): Show c.795+18221_795+18254dupAATATATAATATATAAATATAATATA TATTATAT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477309	T T	TAATATAT others(27): Show TAATATATATTATATTATATAATATAATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	334	0.0030	34	c.795 others(53): Show c.795+18109_795+18110insTATATATATTATATTATATAATATAA TATATATT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GAGATATA others(27): Show GAGATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA20905.hp1 NA18945.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0021 a0001c0001t0004g0004 a0001c0001t0004g0021	2	414	0.0048	34	c.57 others(45): Show c.5742_*5743insATATATATATATATATATATATATATATATATCT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATAGATA others(27): Show GATAGATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	414	0.0024	34	c.57 others(45): Show c.5742_*5743insATATATATATATATATATATATATATATATCTAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01123.hp2 others(18): Show HG00280.hp2 HG00733.hp1 HG01123.hp2 HG01192.hp1 HG01496.hp1 HG01515.hp2 HG01952.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG03704.hp1 NA18947.hp2 NA18973.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0028 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0003g0013 a0001c0001t0004g0052 a0001c0001t0004g0083 a0001c0001t0005g0085 a0001c0001t0006g0006 a0001c0001t0009g0104 a0001c0001t0021g0084	21	414	0.0507	34	c.57 others(45): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN5_chrX_81108699_81206913	81153550	C C	CCTCTCTC others(27): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	225	0.0044	34	c.-12 others(55): Show c.-123-31912_-123-31879dupAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMHB1_chr5_143807161_143825716	143820318	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	458	0.0022	34	c.38- others(47): Show c.38-130_38-129insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HMHB1	ENSG00000158497.6	transcript	ENST00000289448.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr5	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 NA19010.hp1 HG02897.hp2 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0023 a0003c0003t0001g0003 a0003c0003t0001g0023	2	406	0.0049	34	c.37 others(45): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HNF4A_chr20_44350699_44437845	44385059	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	322	0.0031	34	c.50- others(51): Show c.50-20971_50-20970insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA19060.hp2 NA19091.hp1 NA18975.hp2 NA19060.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0176 a0001c0001t0003g0001 a0001c0001t0002g0003 a0001c0001t0002g0176 a0001c0001t0003g0001	3	332	0.0090	34	c.62 others(45): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPD_chr4_82347498_82378991	82347972	T T	TATATATA others(27): Show TATATATATATATATATATATATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	332	0.0030	34	c.62 others(45): Show c.6212_*6213insTATATATTATATATATATATATATATATATATAT	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4525		chr4	TogoVar
HNRNPD_chr4_82347498_82378991	82347997	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	332	0.0030	34	c.61 others(45): Show c.6187_*6188insCATATATATATATATATATATATATATATATATA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4500		chr4	TogoVar
HNRNPH2_chrX_101403222_101419133	101407461	C C	CGAGAGAG others(27): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA19240.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	308	0.0065	34	c.-91 others(43): Show c.-912_-911insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	HNRNPH2	ENSG00000126945.9	transcript	ENST00000316594.6	protein_coding		760		chrX	TogoVar
HOMER2_chr15_82843983_82957720	82860956	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02897.hp1 others(2): Show HG02451.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0134 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0344	5	348	0.0144	34	c.388 others(51): Show c.388-1822_388-1821insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar

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