JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
HAO1_chr20_7877985_7945458	7936503	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	348	0.0029	32	c.138 others(49): Show c.138-1900_138-1869dupACACACACACACACACACACACACACAC ACAC	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7			chr20	TogoVar
HAO2_chr1_119363785_119399130	119389146	A A	ATATATAT others(25): Show ATATATATATATATGTATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0067 a0002c0003t0002g0067	1	428	0.0023	32	c.771 others(49): Show c.771+2328_771+2329insGTATATATATATATGTGTGTATATATAT ATAT	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119389146	A A	ATATATAT others(25): Show ATATATATATATGTATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG03098.hp1 others(3): Show HG02647.hp2 HG02895.hp1 HG03098.hp1 HG03225.hp1 HG03516.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0002 a0002c0006t0002 a0002c0003t0002 a0002c0006t0002	a0002c0003t0002g0022 a0002c0003t0002g0061 a0002c0003t0002g0072 others(2): Show a0002c0003t0002g0022 a0002c0003t0002g0061 a0002c0003t0002g0072 a0002c0003t0002g0074 a0002c0006t0002g0071	6	428	0.0140	32	c.771 others(49): Show c.771+2326_771+2327insGTATATATATATATATGTGTGTATATAT ATAT	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAO2_chr1_119363785_119399130	119394660	T T	TATGTGTA others(25): Show TATGTGTATATATATATACTCATATATATACTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 NA18522.hp2 NA21309.hp1 HG02976.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0287 a0001c0004t0006g0284 a0001c0004t0006g0285 a0001c0004t0006g0287	3	428	0.0070	32	c.82 others(41): Show c.820_*821insATGTGTATATATATATACTCATATATATACTC	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding		531		chr1	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(25): Show GAGGGAGGAAGAAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG04115.hp2 HG03041.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0336 a0001c0001t0001g0322 a0001c0001t0001g0336	2	374	0.0054	32	c.-24 others(43): Show c.-2432_-2431insTCCTTCCTTCCTTCCTTCCTTTCTTCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(25): Show GAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0003 a0011c0011t0003	a0011c0011t0003g0134 a0011c0011t0003g0134	1	374	0.0027	32	c.-24 others(43): Show c.-2432_-2431insTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0011 a0005c0005t0011	a0005c0005t0011g0130 a0005c0005t0011g0130	1	374	0.0027	32	c.-24 others(43): Show c.-2432_-2431insTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CAATATAT others(25): Show CAATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	2	350	0.0057	32	c.-40 others(43): Show c.-4031_-4030insAATATATATATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CACAATAT others(25): Show CACAATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA20129.hp1 HG02717.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0029 a0001c0001t0005g0024 a0001c0001t0005g0029	2	350	0.0057	32	c.-40 others(43): Show c.-4031_-4030insACAATATATATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CACTATAT others(25): Show CACTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0032 a0001c0001t0017g0032	1	350	0.0029	32	c.-40 others(43): Show c.-4031_-4030insACTATATATATATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	352	0.0028	32	c.782 others(49): Show c.782-1934_782-1933insTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTTT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044676	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAGGGAGGGAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	352	0.0028	32	c.782 others(49): Show c.782-1995_782-1994insCTCCCTCCCTTCTTTCTTTCTTTCTTTC TTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044676	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03831.hp2 HG00558.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0280 a0001c0001t0001g0293	2	352	0.0057	32	c.782 others(49): Show c.782-1995_782-1994insCTCCCTCCTTCCTTTCTTTCTTTCTTTC TTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044676	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	352	0.0028	32	c.782 others(49): Show c.782-1995_782-1994insCTCCCTCCTTCCTTCCTTTCTTTCTTTC TTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HBA1_chr16_171680_182522	181982	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02132.hp2 HG02622.hp1 others(2): Show HG00544.hp2 HG02132.hp2 HG02622.hp1 NA18946.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	398	0.0126	32	c.45 others(43): Show c.4571_*4572insCACACACACACACACACACACACACACACACA	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		4461		chr16	TogoVar
HBM_chr16_160978_171764	164731	C C	CGGGGCGG others(25): Show CGGGGCGGGGCCGCGGTGCGGGGCGGGGTCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 NA18995.hp1 HG01346.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	370	0.0054	32	c.-12 others(43): Show c.-1267_-1266insGGGGCGGGGCCGCGGTGCGGGGCGGGGTCGCG	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1246		chr16	TogoVar
HBQ1_chr16_175459_186179	181982	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02132.hp2 HG02622.hp1 others(3): Show HG00544.hp2 HG02132.hp2 HG02622.hp1 HG03195.hp1 NA18946.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0001t0001g0001 a0001c0002t0001g0001	6	384	0.0156	32	c.87 others(41): Show c.874_*875insCACACACACACACACACACACACACACACACA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		804		chr16	TogoVar
HCN1_chr5_45249948_45701380	45373552	T T	TATATATT others(25): Show TATATATTACATACATTATGTACGTCATCTATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19003.hp2 NA18992.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0079 a0001c0001t0013g0078 a0001c0001t0013g0079	2	226	0.0089	32	c.123 others(53): Show c.1231-20307_1231-20306insTATAGATGACGTACATAATGTATG TAATATAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373567	T T	TTATATAC others(25): Show TTATATACGTCATCTATAATATATTACATACGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG02040.hp2 HG00735.hp1 HG00738.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0027g0022 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0027g0022	3	226	0.0133	32	c.123 others(53): Show c.1231-20353_1231-20322dupCCGTATGTAATATATTATAGATGA CGTATATA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373662	G G	GGTATATA others(25): Show GGTATATACGTCATCTATAATATATTACATACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	226	0.0044	32	c.123 others(53): Show c.1231-20417_1231-20416insTGTATGTAATATATTATAGATGAC GTATATAC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373718	T T	TTACGGTA others(25): Show TTACGGTATATACGTCATCTATAATATATTACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	226	0.0044	32	c.123 others(53): Show c.1231-20504_1231-20473dupTGTAATATATTATAGATGACGTAT ATACCGTA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45373858	C C	CGTCATCT others(25): Show CGTCATCTATAATATATTACATACGGTATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0174 a0001c0001t0028g0174	1	226	0.0044	32	c.123 others(53): Show c.1231-20644_1231-20613dupATATATACCGTATGTAATATATTA TAGATGAC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(25): Show AGAATATAGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0219 a0001c0006t0002g0219	1	226	0.0044	32	c.123 others(53): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATTC	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03710.hp1 others(1): Show HG03491.hp2 HG03492.hp2 HG03710.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0001c0001t0007 a0002c0008t0002 a0001c0001t0002 a0001c0001t0007 a0002c0008t0002	a0001c0001t0002g0169 a0001c0001t0007g0186 a0002c0008t0002g0007 a0001c0001t0002g0169 a0001c0001t0007g0186 a0002c0008t0002g0007	4	344	0.0116	32	c.62 others(43): Show c.6228_*6229insATATATATATATATATATATATATATATATAT	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCRTR1_chr1_31612689_31632613	31631456	C C	CACTGGGA others(25): Show CACTGGGATGCTTCCTTATAGAGAGATAGTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	32	c.44 others(43): Show c.4476_*4477insACTGGGATGCTTCCTTATAGAGAGATAGTATT	HCRTR1	ENSG00000121764.12	transcript	ENST00000403528.7	protein_coding		3844		chr1	TogoVar
HDAC9_chr7_18490749_19007416	18732669	A A	ATATGTGT others(25): Show ATATGTGTGCGTATGTGTACACACACACACGTG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	156	0.0064	32	c.190 others(51): Show c.1909+4970_1909+5001dupACACGTGTATGTGTGCGTATGTGTAC ACACAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732701	G G	GTATGTGT others(25): Show GTATGTGTGCGTATGTGTATACACACACGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02273.hp1 HG02630.hp1 others(3): Show HG01109.hp1 HG02273.hp1 HG02630.hp1 HG03490.hp1 HG04115.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0025 a0001c0001t0031 a0001c0002t0002 others(2): Show a0001c0001t0025 a0001c0001t0031 a0001c0002t0002 a0001c0002t0030 a0001c0004t0040	a0001c0001t0025g0051 a0001c0001t0031g0152 a0001c0002t0002g0086 others(3): Show a0001c0001t0025g0051 a0001c0001t0031g0152 a0001c0002t0002g0086 a0001c0002t0002g0123 a0001c0002t0030g0015 a0001c0004t0040g0016	6	156	0.0385	32	c.190 others(51): Show c.1909+4962_1909+4963insTACACACACGTGTATATGTGTGCGTA TGTGTA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL3_chr15_83122753_83212823	83198054	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0108	1	246	0.0041	32	c.84+ others(47): Show c.84+9276_84+9277insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HDGFL3	ENSG00000166503.9	transcript	ENST00000299633.7	protein_coding	1/5			chr15	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0004 a0004c0011t0004	a0004c0011t0004g0175 a0004c0011t0004g0175	1	368	0.0027	32	c.-72 others(49): Show c.-72-1087_-72-1086insATATATATATATATATATATATTTTTTT TTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0172 a0004c0012t0004g0172	1	368	0.0027	32	c.-72 others(49): Show c.-72-1087_-72-1086insATATATATATATATATATATATATTTTT TTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01361.hp1 HG00597.hp2 HG01361.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0057 a0002c0003t0002g0136 a0001c0002t0001g0057 a0002c0003t0002g0136	2	314	0.0064	32	c.591 others(51): Show c.5912-2422_5912-2421insATATATATATATTTTTTTTTTTTTTT TTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0003	1	314	0.0032	32	c.591 others(51): Show c.5912-2422_5912-2421insATATATATATATATTTTTTTTTTTTT TTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	314	0.0032	32	c.591 others(51): Show c.5912-2422_5912-2421insATATATATATATATATTTTTTTTTTT TTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	314	0.0032	32	c.591 others(51): Show c.5912-2422_5912-2421insATATATATATATATATATTTTTTTTT TTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0170 a0002c0003t0002g0170	1	314	0.0032	32	c.591 others(51): Show c.5912-2422_5912-2421insATATATATATATATATATATTTTTTT TTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	314	0.0032	32	c.591 others(51): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT TTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GAGATGGA others(25): Show GAGATGGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	314	0.0032	32	c.321 others(49): Show c.3216+709_3216+710insATATATATATATATATATATATATATCC ATCT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37037145	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 NA18970.hp1 HG02886.hp2 NA18522.hp2 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0188 a0002c0003t0001g0190 a0002c0003t0002g0099 a0002c0003t0001g0188 a0002c0003t0001g0190 a0002c0003t0002g0099	3	314	0.0096	32	c.321 others(49): Show c.3216+709_3216+710insATATATATATATATATATATATATATAT ATAT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	21/35			chr2	TogoVar
HEBP1_chr12_12969870_13005265	12987619	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	396	0.0025	32	c.218 others(47): Show c.218-288_218-287insCGAGAGAGAGAAAGAGAGAGAGAGAGAGAG AG	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	2/3			chr12	TogoVar
HEBP1_chr12_12969870_13005265	13000192	C C	CGGCGGCA others(25): Show CGGCGGCAGGGCGGCAGGGCGGCAGGGCGGCAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18945.hp1 NA18959.hp1 NA18983.hp2 others(2): Show NA18945.hp1 NA18959.hp1 NA18983.hp2 NA19009.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0062 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0062	5	396	0.0126	32	c.-11 others(40): Show c.-110_-79dupCTGCCGCCCTGCCGCCCTGCCGCCCTGCCGCC	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	1/4	79		chr12	TogoVar
HECTD1_chr14_31095117_31212793	31096670	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02896.hp1 others(4): Show HG01891.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp1 NA18971.hp1 NA19057.hp1 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0001 a0001c0010t0004 a0001c0002t0001 a0001c0010t0004	a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0306 others(4): Show a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0306 a0001c0002t0001g0310 a0001c0010t0004g0013 a0001c0010t0004g0014 a0001c0010t0004g0015	7	342	0.0205	32	c.42 others(43): Show c.4259_*4260insATATATATATATATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3446		chr14	TogoVar
HECTD1_chr14_31095117_31212793	31096676	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA19077.hp2 NA18982.hp1 NA19077.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0002 a0001c0009t0003g0008 a0001c0009t0003g0002 a0001c0009t0003g0008	2	342	0.0059	32	c.42 others(43): Show c.4253_*4254insATATATATATATATATATATATATATATATAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3440		chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTCCTTCCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0085 a0001c0003t0002g0085	1	270	0.0037	32	c.178 others(49): Show c.178-4206_178-4205insAGAAAGAAAGGAAGGAAGAAAGAAAGAA AGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	270	0.0037	32	c.178 others(49): Show c.178-4206_178-4205insAGAAAGAAAGAAAGGAAGAAAGAAAGAA AGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	270	0.0037	32	c.178 others(49): Show c.178-4206_178-4205insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323969	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	270	0.0037	32	c.178 others(49): Show c.178-4228_178-4227insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112323993	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0133 a0001c0011t0001g0133	1	270	0.0037	32	c.178 others(49): Show c.178-4252_178-4251insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112324021	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0106 a0001c0003t0002g0106	1	270	0.0037	32	c.178 others(49): Show c.178-4280_178-4279insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112324033	C C	CCTTTCTT others(25): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0123 a0001c0003t0002g0123	1	270	0.0037	32	c.178 others(49): Show c.178-4292_178-4291insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW2_chr2_196189072_196598554	196278131	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02257.hp1 HG02895.hp2 others(3): Show HG00733.hp2 HG02257.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0015 others(1): Show a0001c0002 a0001c0008 a0001c0015 a0001c0016	a0001c0002t0001 a0001c0002t0005 a0001c0008t0010 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0008t0010 a0001c0008t0013 a0001c0015t0016 a0001c0016t0029	a0001c0002t0001g0076 a0001c0002t0005g0080 a0001c0008t0010g0081 others(3): Show a0001c0002t0001g0076 a0001c0002t0005g0080 a0001c0008t0010g0081 a0001c0008t0013g0082 a0001c0015t0016g0066 a0001c0016t0029g0099	6	112	0.0536	32	c.313 others(49): Show c.3135+396_3135+397insATATATATATATATATATATATATATAT ATAT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	15/28			chr2	TogoVar

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