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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⚠️ 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
HEATR4_chr14_73473484_73563947	73542390	ATGTTTTT others(7): Show ATGTTTTTTCTTTCT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp1 others(5): Show HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03453.hp1 HG06807.hp1 NA19043.hp1	a0001 a0022 a0001 a0022	a0001c0004 a0001c0006 a0022c0019 a0001c0004 a0001c0006 a0022c0019	a0001c0004t0006 a0001c0006t0003 a0022c0019t0004 a0001c0004t0006 a0001c0006t0003 a0022c0019t0004	a0001c0004t0006g0001 a0001c0004t0006g0139 a0001c0004t0006g0142 others(4): Show a0001c0004t0006g0001 a0001c0004t0006g0139 a0001c0004t0006g0142 a0001c0004t0006g0143 a0001c0006t0003g0358 a0001c0006t0003g0359 a0022c0019t0004g0216	8	368	0.0217	-14	c.-15 others(35): Show c.-151-12160_-151-12147delAGAAAGAAAAAACA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336209	CATACATA others(7): Show CATACATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp1 HG03471.hp2 others(4): Show HG01261.hp2 HG02129.hp1 HG03471.hp2 HG03942.hp1 NA18968.hp2 NA18987.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0002c0002t0001 a0001c0001t0001 a0001c0001t0011 a0002c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0122 a0001c0001t0011g0034 a0002c0002t0001g0180	7	354	0.0198	-14	c.336 others(33): Show c.3367+1253_3367+1266delATATATGTATGTAT	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31336213	CATACATA others(7): Show CATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01071.hp2 others(27): Show HG00642.hp2 HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01261.hp1 HG01496.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02083.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp2 HG03654.hp2 NA18747.hp2 NA18977.hp1 NA18982.hp2 NA18986.hp2 NA18998.hp2 NA19010.hp1 NA19054.hp1 NA19058.hp2 NA19077.hp2 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0021	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0010c0010 a0021c0028	a0001c0001t0016 a0002c0002t0001 a0002c0002t0025 others(3): Show a0001c0001t0016 a0002c0002t0001 a0002c0002t0025 a0004c0004t0001 a0010c0010t0010 a0021c0028t0001	a0001c0001t0016g0280 a0001c0001t0016g0287 a0002c0002t0001g0062 others(27): Show a0001c0001t0016g0280 a0001c0001t0016g0287 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0085 a0002c0002t0001g0132 a0002c0002t0001g0146 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0025g0349 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0093 a0004c0004t0001g0096 a0004c0004t0001g0098 a0004c0004t0001g0106 a0004c0004t0001g0115 a0004c0004t0001g0200 a0010c0010t0010g0058 a0021c0028t0001g0201	30	354	0.0848	-14	c.336 others(33): Show c.3367+1249_3367+1262delATATATATATGTAT	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	22/35			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31359279	AGTGTAAG others(7): Show AGTGTAAGAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0001 a0021c0028t0001	a0021c0028t0001g0201 a0021c0028t0001g0201	1	354	0.0028	-14	c.207 others(31): Show c.2072-236_2072-223delACACACTCTTACAC	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding	14/35			chr14	TogoVar
HEATR5A_chr14_31286788_31425550	31422100	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03516.hp1 HG02717.hp2 HG03516.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0006 a0018c0018t0006	a0018c0018t0006g0340 a0018c0018t0006g0341 a0018c0018t0006g0340 a0018c0018t0006g0341	2	354	0.0057	-14	c.-17 others(25): Show c.-1717_-1704delCACACACACACACA	HEATR5A	ENSG00000129493.15	transcript	ENST00000543095.7	protein_coding		1551		chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36978063	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0001 a0011c0032t0001	a0011c0032t0001g0206 a0011c0032t0001g0206	1	314	0.0032	-14	c.34 others(25): Show c.3413_*3426delTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding		2831		chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36982863	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	314	0.0032	-14	c.591 others(33): Show c.5912-1083_5912-1070delGTGTGTGTGTGTGT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36985621	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp1 HG02615.hp2 HG03486.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0078 a0002c0017t0001g0102 a0002c0017t0001g0078 a0002c0017t0001g0102	2	314	0.0064	-14	c.591 others(33): Show c.5911+3011_5911+3024delAAAAAAAAAAAAAA	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37059406	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0003 a0009c0025t0003	a0009c0025t0003g0004 a0009c0025t0003g0004	1	314	0.0032	-14	c.185 others(31): Show c.1850-433_1850-420delCACACACACACACA	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	12/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	37059434	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01515.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG01515.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0002 a0002c0003t0003g0003 a0002c0003t0003g0005 others(1): Show a0002c0003t0003g0002 a0002c0003t0003g0003 a0002c0003t0003g0005 a0002c0003t0003g0006	4	314	0.0127	-14	c.185 others(31): Show c.1850-461_1850-448delTACACACACACACA	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	12/35			chr2	TogoVar
HEATR6_chr17_60036008_60083921	60048971	ACATATAT others(7): Show ACATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00733.hp2 others(36): Show HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02071.hp1 HG02257.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03579.hp2 HG03834.hp1 HG03927.hp2 HG06807.hp2 NA18950.hp1 NA18959.hp1 NA18967.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp2 NA18995.hp1 NA19012.hp1 NA19080.hp2 NA19089.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0021 a0001c0001t0087 a0002c0002t0007 others(14): Show a0001c0001t0021 a0001c0001t0087 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0022 a0002c0002t0023 a0002c0002t0031 a0002c0002t0032 a0002c0002t0034 a0002c0002t0036 a0002c0002t0089 a0004c0004t0007 a0004c0004t0008 a0004c0004t0009 a0004c0004t0022	a0001c0001t0021g0040 a0001c0001t0021g0112 a0001c0001t0021g0113 others(29): Show a0001c0001t0021g0040 a0001c0001t0021g0112 a0001c0001t0021g0113 a0001c0001t0087g0076 a0002c0002t0007g0003 a0002c0002t0007g0019 a0002c0002t0007g0209 a0002c0002t0008g0021 a0002c0002t0008g0023 a0002c0002t0008g0203 a0002c0002t0008g0204 a0002c0002t0008g0205 a0002c0002t0008g0208 a0002c0002t0009g0022 a0002c0002t0009g0213 a0002c0002t0009g0215 a0002c0002t0010g0020 a0002c0002t0010g0198 a0002c0002t0010g0199 a0002c0002t0010g0212 a0002c0002t0022g0219 a0002c0002t0023g0217 a0002c0002t0031g0220 a0002c0002t0032g0221 a0002c0002t0034g0210 a0002c0002t0036g0211 a0002c0002t0089g0216 a0004c0004t0007g0065 a0004c0004t0007g0124 a0004c0004t0008g0067 a0004c0004t0009g0026 a0004c0004t0022g0184	39	250	0.1560	-14	c.254 others(31): Show c.2547+595_2548-584delATTATATATATATG	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	16/19			chr17	TogoVar
HEATR6_chr17_60036008_60083921	60077226	ACTGTAAA others(7): Show ACTGTAAAGCAGAAT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	250	0.0040	-14	c.220 others(30): Show c.220-1003_220-990delATTCTGCTTTACAG	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	1/19			chr17	TogoVar
HEBP1_chr12_12969870_13005265	12990116	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02055.hp1 others(15): Show HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0174 others(13): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0174 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0217	18	396	0.0455	-14	c.79- others(27): Show c.79-715_79-702delTGTGTGTGTGTGTG	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	1/3			chr12	TogoVar
HEBP1_chr12_12969870_13005265	12993486	CCTCTCTC others(7): Show CCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(206): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0006 a0005c0004 a0001c0001 a0003c0006 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0003c0006t0001 a0005c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(114): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0002g0031 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0003g0007 a0001c0001t0003g0026 a0001c0001t0003g0058 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0005g0030 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0006g0116 a0001c0001t0009g0068 a0001c0001t0009g0113 a0001c0001t0013g0128 a0001c0001t0014g0233 a0001c0001t0017g0254 a0003c0006t0001g0232 a0005c0004t0001g0151	209	396	0.5278	-14	c.79- others(29): Show c.79-4085_79-4072delAGAGAGAGAGAGAG	HEBP1	ENSG00000013583.10	transcript	ENST00000014930.9	protein_coding	1/3			chr12	TogoVar
HEBP2_chr6_138399223_138427197	138403086	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG01928.hp2 others(7): Show HG00140.hp2 HG01099.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG02148.hp1 HG02280.hp2 HG02735.hp2 HG03834.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0015 a0001c0002t0074 a0001c0002t0075 a0001c0002t0076	a0001c0002t0001g0015 a0001c0002t0002g0015 a0001c0002t0015g0005 others(3): Show a0001c0002t0001g0015 a0001c0002t0002g0015 a0001c0002t0015g0005 a0001c0002t0074g0005 a0001c0002t0075g0005 a0001c0002t0076g0005	10	316	0.0317	-14	c.-14 others(25): Show c.-1409_-1396delTTTTTTTTTTTTTT	HEBP2	ENSG00000051620.11	transcript	ENST00000607197.6	protein_coding		1136		chr6	TogoVar
HECTD1_chr14_31095117_31212793	31134518	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00673.hp1 others(50): Show HG00140.hp1 HG00423.hp2 HG00673.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01952.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02451.hp2 HG02602.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG03239.hp1 HG03654.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp2 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18987.hp2 NA18995.hp1 NA19000.hp2 NA19003.hp1 NA19012.hp2 NA19055.hp1 NA19062.hp1 NA19065.hp1 NA19068.hp1 NA19076.hp1 NA19082.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp2	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0002 a0001c0003 a0001c0008 others(7): Show a0001c0002 a0001c0003 a0001c0008 a0001c0029 a0001c0030 a0001c0031 a0001c0033 a0001c0034 a0007c0028 a0010c0032	a0001c0002t0001 a0001c0003t0001 a0001c0003t0011 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0011 a0001c0008t0001 a0001c0029t0001 a0001c0030t0001 a0001c0031t0001 a0001c0033t0001 a0001c0034t0001 a0007c0028t0001 a0010c0032t0001	a0001c0002t0001g0056 a0001c0002t0001g0068 a0001c0002t0001g0070 others(50): Show a0001c0002t0001g0056 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0003t0001g0236 a0001c0003t0001g0240 a0001c0003t0001g0243 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0263 a0001c0003t0001g0267 a0001c0003t0001g0270 a0001c0003t0001g0271 a0001c0003t0001g0274 a0001c0003t0001g0279 a0001c0003t0001g0280 a0001c0003t0001g0282 a0001c0003t0001g0286 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0011g0009 a0001c0008t0001g0237 a0001c0008t0001g0239 a0001c0008t0001g0241 a0001c0008t0001g0245 a0001c0008t0001g0265 a0001c0008t0001g0268 a0001c0008t0001g0278 a0001c0008t0001g0283 a0001c0029t0001g0285 a0001c0030t0001g0238 a0001c0031t0001g0251 a0001c0033t0001g0277 a0001c0034t0001g0269 a0007c0028t0001g0069 a0010c0032t0001g0086	53	342	0.1550	-14	c.357 others(31): Show c.3578+340_3578+353delCACACACACACACA	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134555	TGTGTGTG others(7): Show TGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0307 a0006c0027t0001g0307	1	342	0.0029	-14	c.357 others(31): Show c.3578+303_3578+316delGCACACACACACAC	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134557	TGTGTGTG others(7): Show TGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	342	0.0029	-14	c.357 others(31): Show c.3578+301_3578+314delGCGCACACACACAC	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD1_chr14_31095117_31212793	31187027	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02258.hp1 HG00639.hp2 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0021 a0001c0002t0006g0022 a0001c0002t0006g0021 a0001c0002t0006g0022	2	342	0.0059	-14	c.141 others(31): Show c.141-8787_141-8774delTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	2/42			chr14	TogoVar
HECTD3_chr1_44997548_45016324	45007126	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01255.hp2 HG00733.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	396	0.0051	-14	c.155 others(29): Show c.1556+79_1556+92delCACACACACACACA	HECTD3	ENSG00000126107.15	transcript	ENST00000372172.5	protein_coding	11/20			chr1	TogoVar
HECTD4_chr12_112155195_112387431	112217304	CACACACA others(7): Show CACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	270	0.0037	-14	c.707 others(31): Show c.7075-123_7075-110delATGTGTGTGTGTGT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	45/75			chr12	TogoVar
HECTD4_chr12_112155195_112387431	112367820	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	270	0.0037	-14	c.177 others(33): Show c.177+14118_177+14131delTTTTTTTTTTTTTT	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43221537	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp2 HG01243.hp1 others(19): Show HG00408.hp1 HG00735.hp2 HG01243.hp1 HG01361.hp1 HG01884.hp2 HG01943.hp2 HG02027.hp1 HG02109.hp1 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG03130.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18946.hp2 NA18957.hp2 NA18971.hp2 NA18983.hp1 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0018 a0001c0022 a0002c0005 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0002t0017 a0001c0002t0023 a0001c0003t0001 a0001c0003t0036 a0001c0004t0001 a0001c0004t0002 a0001c0006t0004 a0001c0006t0033 a0001c0007t0006 a0001c0007t0011 a0001c0012t0007 a0001c0018t0001 a0001c0022t0020 a0002c0005t0001 a0003c0008t0010	a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0002g0019 others(19): Show a0001c0001t0001g0100 a0001c0001t0001g0116 a0001c0001t0002g0019 a0001c0001t0003g0097 a0001c0002t0001g0126 a0001c0002t0005g0059 a0001c0002t0017g0058 a0001c0002t0023g0134 a0001c0003t0001g0102 a0001c0003t0036g0037 a0001c0004t0001g0085 a0001c0004t0002g0051 a0001c0006t0004g0009 a0001c0006t0033g0042 a0001c0007t0006g0154 a0001c0007t0011g0089 a0001c0012t0007g0079 a0001c0018t0001g0129 a0001c0022t0020g0146 a0002c0005t0001g0110 a0003c0008t0010g0003 a0003c0008t0010g0081	22	182	0.1209	-14	c.-31 others(33): Show c.-31-22309_-31-22296delTTTTTTTTTTTTTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43241612	ATGTATGT others(7): Show ATGTATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0073 a0001c0006t0019g0073	1	182	0.0055	-14	c.-31 others(31): Show c.-31-2259_-31-2246delATGTGTGTGTGTGT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43250118	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00738.hp1 others(27): Show HG00280.hp2 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01517.hp2 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02559.hp1 HG02809.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp1 NA18946.hp2 NA19066.hp2 NA19090.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0013 a0001c0017 a0001c0023 a0002c0005 a0002c0009 a0003c0008 a0007c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0036 a0001c0004t0001 a0001c0006t0033 a0001c0007t0006 a0001c0007t0011 a0001c0013t0006 a0001c0017t0003 a0001c0023t0006 a0002c0005t0003 a0002c0005t0008 a0002c0009t0001 a0003c0008t0037 a0007c0020t0004	a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0002g0034 others(27): Show a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0002g0034 a0001c0001t0003g0128 a0001c0001t0003g0162 a0001c0001t0004g0001 a0001c0001t0004g0017 a0001c0001t0004g0029 a0001c0001t0014g0004 a0001c0002t0003g0118 a0001c0002t0003g0151 a0001c0003t0001g0119 a0001c0003t0001g0157 a0001c0003t0002g0022 a0001c0003t0036g0037 a0001c0004t0001g0085 a0001c0006t0033g0042 a0001c0007t0006g0156 a0001c0007t0011g0089 a0001c0013t0006g0158 a0001c0017t0003g0107 a0001c0023t0006g0136 a0002c0005t0003g0094 a0002c0005t0008g0083 a0002c0005t0008g0084 a0002c0005t0008g0086 a0002c0009t0001g0095 a0002c0009t0001g0152 a0003c0008t0037g0016 a0007c0020t0004g0020	30	182	0.1648	-14	c.27+ others(29): Show c.27+6189_27+6202delACACACACACACAC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43336076	CCTTTCTT others(7): Show CCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0018 a0001c0003t0002g0018	1	182	0.0055	-14	c.460 others(33): Show c.460+15349_460+15362delCTTTCTTTCTTTCT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43336130	CTCTCTCT others(7): Show CTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18946.hp1 HG02735.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0001 a0001c0013t0006 a0001c0003t0001 a0001c0013t0006	a0001c0003t0001g0164 a0001c0013t0006g0101 a0001c0003t0001g0164 a0001c0013t0006g0101	2	182	0.0110	-14	c.460 others(33): Show c.460+15402_460+15415delTTCTCTCTCTCTCT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43336144	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01109.hp2 HG01175.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0083 a0002c0005t0008g0086 a0002c0005t0008g0083 a0002c0005t0008g0086	2	182	0.0110	-14	c.460 others(33): Show c.460+15444_460+15457delCTCTCTCTCTCTCT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43376029	TATATATA others(7): Show TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp1 HG02615.hp2 others(4): Show HG00639.hp2 HG02055.hp1 HG02615.hp2 HG02630.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0005 a0001c0001t0018 a0001c0002t0001 others(3): Show a0001c0001t0005 a0001c0001t0018 a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0006t0002	a0001c0001t0005g0163 a0001c0001t0018g0074 a0001c0002t0001g0099 others(4): Show a0001c0001t0005g0163 a0001c0001t0018g0074 a0001c0002t0001g0099 a0001c0002t0009g0123 a0001c0003t0001g0076 a0001c0003t0001g0135 a0001c0006t0002g0050	7	182	0.0385	-14	c.555 others(33): Show c.555+15065_555+15078delTATATATACACACA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43429289	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02559.hp1 NA19068.hp1 others(2): Show HG00673.hp1 HG02559.hp1 NA19068.hp1 NA19085.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0035 a0001c0002t0003 others(2): Show a0001c0001t0004 a0001c0001t0035 a0001c0002t0003 a0001c0003t0036 a0001c0004t0001	a0001c0001t0004g0029 a0001c0001t0035g0025 a0001c0002t0003g0124 others(2): Show a0001c0001t0004g0029 a0001c0001t0035g0025 a0001c0002t0003g0124 a0001c0003t0036g0037 a0001c0004t0001g0063	5	182	0.0275	-14	c.802 others(31): Show c.802-8680_802-8667delTATATATATATATA	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196362318	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02717.hp2 others(7): Show HG01891.hp2 HG02258.hp1 HG02717.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0011	a0001c0001t0018 a0001c0002t0011 a0001c0003t0003 others(5): Show a0001c0001t0018 a0001c0002t0011 a0001c0003t0003 a0001c0003t0022 a0001c0004t0002 a0001c0004t0007 a0001c0010t0002 a0001c0011t0003	a0001c0001t0018g0033 a0001c0002t0011g0068 a0001c0003t0003g0067 others(7): Show a0001c0001t0018g0033 a0001c0002t0011g0068 a0001c0003t0003g0067 a0001c0003t0022g0100 a0001c0004t0002g0041 a0001c0004t0007g0057 a0001c0004t0007g0058 a0001c0004t0007g0059 a0001c0010t0002g0045 a0001c0011t0003g0001	10	112	0.0893	-14	c.293 others(33): Show c.293-18568_293-18555delGTGTGTGTGTGTGT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	2/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196460776	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0100 a0001c0003t0022g0100	1	112	0.0089	-14	c.-35 others(33): Show c.-35-27332_-35-27319delAAAAAAAAAAAAAA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196469120	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02735.hp2 HG02970.hp1 others(3): Show HG01261.hp2 HG02735.hp2 HG02970.hp1 HG03486.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0001 a0001c0002t0003 a0001c0002t0007 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0014 a0001c0021t0030	a0001c0001t0001g0072 a0001c0002t0003g0070 a0001c0002t0007g0071 others(3): Show a0001c0001t0001g0072 a0001c0002t0003g0070 a0001c0002t0007g0071 a0001c0002t0011g0046 a0001c0002t0014g0004 a0001c0021t0030g0002	6	112	0.0536	-14	c.-35 others(33): Show c.-35-35676_-35-35663delACACACACACACAC	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196553823	CTCAGTAA others(7): Show CTCAGTAATATCCAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02723.hp1 others(4): Show HG01884.hp2 HG02145.hp1 HG02723.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0024 a0001c0001 a0001c0002 a0006c0024	a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 others(3): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0023 a0001c0001t0028 a0001c0002t0003 a0006c0024t0003	a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0017g0111 others(4): Show a0001c0001t0004g0107 a0001c0001t0004g0110 a0001c0001t0017g0111 a0001c0001t0023g0109 a0001c0001t0028g0112 a0001c0002t0003g0106 a0006c0024t0003g0108	7	112	0.0625	-14	c.-36 others(33): Show c.-36+39671_-36+39684delTTGGATATTACTGA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196598294	GAAGGGAG others(7): Show GAAGGGAGGAGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0106 a0001c0002t0003g0106	1	112	0.0089	-14	c.-48 others(25): Show c.-4836_-4823delTCCCCTCCTCCCTT	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding		4741		chr2	TogoVar
HELLS_chr10_94540788_94607099	94565970	GCAGCCTC others(7): Show GCAGCCTCAACCTCC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	358	0.0028	-14	c.435 others(31): Show c.435+3098_435+3111delCCTCAACCTCCCAG	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94575762	GGGTTGTG others(7): Show GGGTTGTGTTTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	358	0.0028	-14	c.889 others(29): Show c.889-898_889-885delGTTGTGTTTGTGTG	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94580117	GTATATAT others(7): Show GTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18973.hp2 NA18989.hp2 others(2): Show HG03225.hp2 NA18973.hp2 NA18989.hp2 NA18999.hp1 NA18999.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0004c0013t0001 a0001c0001t0001 a0001c0001t0002 a0004c0013t0001	a0001c0001t0001g0097 a0001c0001t0001g0167 a0001c0001t0001g0172 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0002g0202 a0004c0013t0001g0068	5	358	0.0140	-14	c.103 others(33): Show c.1033-1176_1033-1163delTATATATATATATA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELLS_chr10_94540788_94607099	94580154	TATATATA others(7): Show TATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	358	0.0028	-14	c.103 others(33): Show c.1033-1170_1033-1157delTATATATACACACA	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
HELQ_chr4_83402346_83460823	83450222	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02451.hp2 others(11): Show HG01243.hp2 HG02055.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0004c0010 a0002c0002 a0004c0005 a0004c0010	a0002c0002t0001 a0004c0005t0001 a0004c0010t0001 a0002c0002t0001 a0004c0005t0001 a0004c0010t0001	a0002c0002t0001g0035 a0004c0005t0001g0019 a0004c0005t0001g0095 others(10): Show a0002c0002t0001g0035 a0004c0005t0001g0019 a0004c0005t0001g0095 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0098 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0010t0001g0224 a0004c0010t0001g0225 a0004c0010t0001g0226	14	316	0.0443	-14	c.101 others(33): Show c.1013-1275_1013-1262delTTTTTTTTTTTTTT	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding	2/17			chr4	TogoVar
HELQ_chr4_83402346_83460823	83456467	GCAAATTC others(7): Show GCAAATTCCAGATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03195.hp1 others(1): Show HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03453.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0028 a0005c0007t0001g0114 a0005c0007t0001g0223 a0005c0007t0001g0028 a0005c0007t0001g0114 a0005c0007t0001g0223	4	316	0.0127	-14	c.-78 others(23): Show c.-788_-775delACATCTGGAATTTG	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding		645		chr4	TogoVar
HELT_chr4_185013490_185025953	185022278	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01070.hp2 others(66): Show HG00438.hp1 HG00558.hp1 HG01070.hp2 HG01099.hp1 HG01167.hp1 HG01255.hp1 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02486.hp2 HG02622.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03516.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18949.hp1 NA18951.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19054.hp1 NA19060.hp1 NA19067.hp2 NA19070.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0004g0002	69	454	0.1520	-14	c.15 others(25): Show c.1507_*1520delAAAAAAAAAAAAAA	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		1326		chr4	TogoVar
HELZ_chr17_67065444_67250196	67125286	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp2 HG02717.hp2 others(6): Show HG01099.hp1 HG02622.hp2 HG02717.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03654.hp2 NA18612.hp1 NA18960.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0011 a0005c0007	a0001c0001t0004 a0001c0001t0034 a0001c0001t0045 others(4): Show a0001c0001t0004 a0001c0001t0034 a0001c0001t0045 a0001c0003t0002 a0002c0002t0003 a0002c0011t0003 a0005c0007t0028	a0001c0001t0004g0254 a0001c0001t0004g0261 a0001c0001t0004g0265 others(6): Show a0001c0001t0004g0254 a0001c0001t0004g0261 a0001c0001t0004g0265 a0001c0001t0034g0273 a0001c0001t0045g0010 a0001c0003t0002g0144 a0002c0002t0003g0013 a0002c0011t0003g0018 a0005c0007t0028g0089	9	274	0.0329	-14	c.338 others(33): Show c.3388-1286_3388-1273delTATATATATATATA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32			chr17	TogoVar
HEPHL1_chr11_94016354_94119208	94031331	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	368	0.0054	-14	c.170 others(31): Show c.170+9819_170+9832delCACACACACACACA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94060092	TTATATAT others(7): Show TTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG02630.hp2 others(20): Show HG01167.hp1 HG01261.hp2 HG02630.hp2 HG02683.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03491.hp1 HG04115.hp1 NA18747.hp2 NA18946.hp1 NA18955.hp1 NA18968.hp2 NA18969.hp2 NA18973.hp2 NA18978.hp1 NA18986.hp2 NA18994.hp2 NA19003.hp1 NA19056.hp1 NA19067.hp2 NA19077.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0021	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0009 a0021c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0017 a0002c0002t0001 a0003c0003t0003 a0007c0009t0012 a0021c0015t0003	a0001c0001t0001g0009 a0001c0001t0001g0314 a0001c0001t0002g0005 others(18): Show a0001c0001t0001g0009 a0001c0001t0001g0314 a0001c0001t0002g0005 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0003g0001 a0001c0001t0003g0072 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0099 a0001c0001t0008g0070 a0001c0001t0017g0008 a0002c0002t0001g0013 a0002c0002t0001g0018 a0003c0003t0003g0086 a0003c0003t0003g0090 a0007c0009t0012g0068 a0021c0015t0003g0093	23	368	0.0625	-14	c.416 others(31): Show c.416-3371_416-3358delTATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94093971	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	368	0.0027	-14	c.243 others(31): Show c.2434+361_2434+374delTATATATATATATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94094001	TATATATA others(7): Show TATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp2 HG01891.hp2 HG03516.hp2	a0002 a0023 a0002 a0023	a0002c0005 a0023c0014 a0002c0005 a0023c0014	a0002c0005t0004 a0023c0014t0004 a0002c0005t0004 a0023c0014t0004	a0002c0005t0004g0077 a0023c0014t0004g0361 a0002c0005t0004g0077 a0023c0014t0004g0361	2	368	0.0054	-14	c.243 others(31): Show c.2434+363_2434+376delTATATATATATAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	CATATATA others(7): Show CATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG01069.hp2 others(9): Show HG00423.hp1 HG00597.hp2 HG01069.hp2 HG01071.hp1 HG01256.hp1 HG01256.hp2 HG02165.hp2 HG04204.hp1 NA18960.hp2 NA18971.hp1 NA18975.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0150 a0001c0001t0001g0154 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0341 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0109 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0003g0203 a0001c0001t0005g0328	12	368	0.0326	-14	c.36 others(25): Show c.3679_*3692delATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HEPH_chrX_66159247_66272389	66206339	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02109.hp2 others(8): Show HG00735.hp1 HG01891.hp1 HG02109.hp2 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02970.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0002c0004 a0001c0003 a0001c0010 a0002c0004	a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0002c0004t0002	a0001c0003t0001g0002 a0001c0003t0001g0017 a0001c0003t0001g0019 others(8): Show a0001c0003t0001g0002 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0003t0001g0025 a0001c0003t0002g0008 a0001c0003t0002g0012 a0001c0003t0002g0016 a0001c0010t0001g0079 a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015	11	218	0.0505	-14	c.229 others(31): Show c.2292-826_2292-813delTTTTTTTTTTTTTT	HEPH	ENSG00000089472.18	transcript	ENST00000343002.7	protein_coding	13/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
HEPN1_chr11_124914250_124925677	124923882	GCTTGCCA others(7): Show GCTTGCCATCCTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	428	0.0023	-14	c.38 others(25): Show c.3866_*3879delCTTGCCATCCTTCA	HEPN1	ENSG00000221932.7	transcript	ENST00000408930.7	protein_coding		3206		chr11	TogoVar

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