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
HLA-B_chr6_31348875_31362179	31351293	A A	AGCCTTTT others(29): Show AGCCTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0031 a0031	a0031c0029 a0031c0029	a0031c0029t0010 a0031c0029t0010	a0031c0029t0010g0044 a0031c0029t0010g0044	1	468	0.0021	36	c.30 others(47): Show c.3007_*3008insAACAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAG GC	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding		2581		chr6	TogoVar
HLA-B_chr6_31348875_31362179	31351397	A A	ATTTGGTT others(29): Show ATTTGGTTTGGTTTGTAATGTGTACATTACAGAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01070.hp1 others(1): Show HG00140.hp2 HG00323.hp2 HG01070.hp1 HG03710.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0011 a0008c0008t0011	a0008c0008t0011g0007 a0008c0008t0011g0007	4	468	0.0086	36	c.29 others(47): Show c.2903_*2904insGTTTTCTGTAATGTACACATTACAAACCAAACCA AA	HLA-B	ENSG00000234745.14	transcript	ENST00000412585.7	protein_coding		2477		chr6	TogoVar
HLA-DRB5_chr6_32512353_32535287	32521811	T T	TCTCTCTG others(29): Show TCTCTCTGTCTCTCTCTTCCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03490.hp2 NA18954.hp1 others(3): Show HG02683.hp2 HG03490.hp2 NA18954.hp1 NA18959.hp1 NA18982.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0001 a0002c0002t0001g0007	6	19	0.3158	36	c.370 others(49): Show c.370+93_370+94insTGAGAGAGAGAGAGAGAGGAAGAGAGAGACAG AGAG	HLA-DRB5	ENSG00000198502.6	transcript	ENST00000374975.4	protein_coding	2/5			chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722758	G G	GAGAAGAA others(29): Show GAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 NA18964.hp2 NA19240.hp2 HG00733.hp2 NA18964.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0004 a0001c0001t0001g0010	3	443	0.0068	36	c.-70 others(45): Show c.-706_-705insAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGA	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		675		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722795	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA18965.hp1 HG03831.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0004 a0001c0001t0001g0012	2	443	0.0045	36	c.-66 others(45): Show c.-669_-668insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		638		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722804	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	443	0.0023	36	c.-66 others(45): Show c.-660_-659insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		629		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722807	A A	AGAAGAGG others(29): Show AGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	443	0.0023	36	c.-65 others(45): Show c.-657_-656insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		626		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722810	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	443	0.0023	36	c.-65 others(45): Show c.-654_-653insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		623		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722810	A A	AGAAGAGG others(29): Show AGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0004 a0001c0001t0001g0010	3	443	0.0068	36	c.-65 others(45): Show c.-654_-653insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		623		chr6	TogoVar
HLA-F_chr6_29718434_29732296	29722813	A A	AGAAGAAG others(29): Show AGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	443	0.0045	36	c.-65 others(45): Show c.-651_-650insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	HLA-F	ENSG00000204642.14	transcript	ENST00000259951.12	protein_coding		620		chr6	TogoVar
HLCS_chr21_36743626_36971669	36868270	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0042 a0001c0004t0042	a0001c0004t0042g0209 a0001c0004t0042g0209	1	258	0.0039	36	c.189 others(57): Show c.1892+28589_1892+28590insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36868274	G G	GGAAAGAA others(29): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02723.hp1 HG03041.hp1 others(8): Show HG02135.hp2 HG02723.hp1 HG03041.hp1 HG04115.hp2 NA18522.hp2 NA18939.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18979.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0057 a0001c0003t0060 a0002c0002t0002 a0002c0002t0015 a0002c0002t0018 a0002c0002t0027 a0002c0002t0064	a0001c0001t0003g0228 a0001c0001t0005g0052 a0001c0001t0005g0115 others(8): Show a0001c0001t0003g0228 a0001c0001t0005g0052 a0001c0001t0005g0115 a0001c0001t0013g0240 a0001c0001t0057g0225 a0001c0003t0060g0203 a0002c0002t0002g0154 a0002c0002t0015g0142 a0002c0002t0018g0153 a0002c0002t0027g0157 a0002c0002t0064g0243	11	258	0.0426	36	c.189 others(57): Show c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HMBOX1_chr8_28885395_29058262	29003555	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG02486.hp1 others(6): Show HG01168.hp1 HG01175.hp2 HG02486.hp1 HG02647.hp1 HG03540.hp2 NA18952.hp2 NA18990.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0176 a0001c0001t0001g0305 a0001c0001t0002g0138 others(6): Show a0001c0001t0001g0176 a0001c0001t0001g0305 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0169 a0001c0001t0002g0187 a0001c0001t0002g0312 a0001c0001t0005g0300 a0001c0001t0012g0156	9	344	0.0262	36	c.587 others(53): Show c.587-5495_587-5494insATATATATATATATATATATATATATAT ATATATAT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMCN1_chr1_185729391_186195949	186063096	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0016 a0004c0002t0001g0016	1	92	0.0109	36	c.751 others(53): Show c.7513+503_7513+504insATATATATATATATATATATATATATAT GTATATAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCCCTCC others(29): Show GTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG03540.hp2 others(2): Show HG02109.hp2 HG02647.hp1 HG03540.hp2 NA19009.hp2 homoSapiens_chm13v2.hp1	a0004 a0012 a0016 others(1): Show a0004 a0012 a0016 a0159	a0004c0004 a0012c0114 a0012c0115 others(2): Show a0004c0004 a0012c0114 a0012c0115 a0016c0019 a0159c0179	a0004c0004t0001 a0012c0114t0001 a0012c0115t0001 others(2): Show a0004c0004t0001 a0012c0114t0001 a0012c0115t0001 a0016c0019t0001 a0159c0179t0002	a0004c0004t0001g0015 a0012c0114t0001g0048 a0012c0115t0001g0049 others(2): Show a0004c0004t0001g0015 a0012c0114t0001g0048 a0012c0115t0001g0049 a0016c0019t0001g0061 a0159c0179t0002g0167	5	258	0.0194	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCC others(29): Show GTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0200 a0002c0200	a0002c0200t0002 a0002c0200t0002	a0002c0200t0002g0249 a0002c0200t0002g0249	1	258	0.0039	36	c.235 others(55): Show c.2350+2446_2350+2447insTCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312505	G G	GTCTCTCT others(29): Show GTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01099.hp2 others(3): Show HG00140.hp1 HG00639.hp2 HG01099.hp2 HG02976.hp1 HG03654.hp2 NA19074.hp1	a0002 a0029 a0060 others(2): Show a0002 a0029 a0060 a0127 a0139	a0002c0171 a0002c0201 a0029c0145 others(3): Show a0002c0171 a0002c0201 a0029c0145 a0060c0058 a0127c0167 a0139c0142	a0002c0171t0002 a0002c0201t0002 a0029c0145t0002 others(3): Show a0002c0171t0002 a0002c0201t0002 a0029c0145t0002 a0060c0058t0001 a0127c0167t0002 a0139c0142t0002	a0002c0171t0002g0189 a0002c0201t0002g0165 a0029c0145t0002g0218 others(3): Show a0002c0171t0002g0189 a0002c0201t0002g0165 a0029c0145t0002g0218 a0060c0058t0001g0113 a0127c0167t0002g0209 a0139c0142t0002g0244	6	258	0.0233	36	c.235 others(55): Show c.2350+2446_2350+2447insTCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04199.hp1 HG02165.hp1 HG04199.hp1	a0005 a0017 a0005 a0017	a0005c0085 a0017c0075 a0005c0085 a0017c0075	a0005c0085t0001 a0017c0075t0001 a0005c0085t0001 a0017c0075t0001	a0005c0085t0001g0075 a0017c0075t0001g0145 a0005c0085t0001g0075 a0017c0075t0001g0145	2	258	0.0078	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02683.hp1 HG00099.hp1 HG02683.hp1	a0140 a0150 a0140 a0150	a0140c0154 a0150c0132 a0140c0154 a0150c0132	a0140c0154t0002 a0150c0132t0002 a0140c0154t0002 a0150c0132t0002	a0140c0154t0002g0184 a0150c0132t0002g0154 a0140c0154t0002g0184 a0150c0132t0002g0154	2	258	0.0078	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0089 a0089	a0089c0116 a0089c0116	a0089c0116t0001 a0089c0116t0001	a0089c0116t0001g0072 a0089c0116t0001g0072	1	258	0.0039	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02615.hp1 HG03491.hp2 others(3): Show HG01071.hp2 HG02615.hp1 HG03491.hp2 NA18612.hp1 NA19070.hp2 NA20905.hp1	a0004 a0009 a0076 others(3): Show a0004 a0009 a0076 a0166 a0177 a0178	a0004c0004 a0009c0195 a0076c0098 others(3): Show a0004c0004 a0009c0195 a0076c0098 a0166c0187 a0177c0207 a0178c0176	a0004c0004t0001 a0009c0195t0002 a0076c0098t0001 others(3): Show a0004c0004t0001 a0009c0195t0002 a0076c0098t0001 a0166c0187t0002 a0177c0207t0002 a0178c0176t0002	a0004c0004t0001g0083 a0009c0195t0002g0176 a0076c0098t0001g0036 others(3): Show a0004c0004t0001g0083 a0009c0195t0002g0176 a0076c0098t0001g0036 a0166c0187t0002g0253 a0177c0207t0002g0221 a0178c0176t0002g0224	6	258	0.0233	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18947.hp2 HG01884.hp2 NA18947.hp2	a0101 a0181 a0101 a0181	a0101c0099 a0181c0214 a0101c0099 a0181c0214	a0101c0099t0001 a0181c0214t0002 a0101c0099t0001 a0181c0214t0002	a0101c0099t0001g0079 a0181c0214t0002g0207 a0101c0099t0001g0079 a0181c0214t0002g0207	2	258	0.0078	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCCT TCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0037 a0037	a0037c0117 a0037c0117	a0037c0117t0001 a0037c0117t0001	a0037c0117t0001g0007 a0037c0117t0001g0007	1	258	0.0039	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTCCTT TCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0070 a0070	a0070c0064 a0070c0064	a0070c0064t0001 a0070c0064t0001	a0070c0064t0001g0009 a0070c0064t0001g0009	1	258	0.0039	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCCTTCTT TCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0015 a0015	a0015c0008 a0015c0008	a0015c0008t0001 a0015c0008t0001	a0015c0008t0001g0073 a0015c0008t0001g0073	1	258	0.0039	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCCTCCTTTCTT TCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130312539	C C	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0115 a0115	a0115c0125 a0115c0125	a0115c0125t0001 a0115c0125t0001	a0115c0125t0001g0053 a0115c0125t0001g0053	1	258	0.0039	36	c.235 others(55): Show c.2350+2479_2350+2480insCTCCCTCCCTCCCTCCTTTCTTTCTT TCTTTCTTTC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGA2_chr12_65819483_65971291	65965152	C C	CTTCTAGG others(29): Show CTTCTAGGTTTCTTGTGGTTGGGGCTTTGTTTGGACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0114 a0001c0001t0134g0114	1	236	0.0042	36	c.18 others(47): Show c.1860_*1861insTTCTAGGTTTCTTGTGGTTGGGGCTTTGTTTGGA CT	HMGA2	ENSG00000149948.14	transcript	ENST00000403681.7	protein_coding	5/5	1861		chr12	TogoVar
HMGCLL1_chr6_55429373_55584192	55477291	A A	AATATATA others(29): Show AATATATATTATATTTATATAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	334	0.0030	36	c.795 others(55): Show c.795+18127_795+18128insAATATATATTATATATTATATAAATA TAATATATAT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HMGN1_chr21_39337315_39354088	39337369	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01071.hp1 HG01106.hp2 others(17): Show HG00558.hp1 HG01071.hp1 HG01106.hp2 HG01257.hp1 HG01433.hp1 HG01934.hp1 HG02056.hp2 HG02145.hp2 HG02559.hp2 HG02886.hp1 HG02976.hp2 HG03041.hp2 NA18943.hp1 NA18953.hp2 NA18984.hp2 NA18994.hp1 NA19001.hp2 NA19080.hp2 NA19088.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0006g0006 a0001c0001t0007g0003 a0001c0001t0009g0036 a0001c0001t0011g0022	20	414	0.0483	36	c.57 others(47): Show c.5742_*5743insATATATATATATATATATATATATATATATATAT AT	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4945		chr21	TogoVar
HMGN1_chr21_39337315_39354088	39337386	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	36	c.57 others(47): Show c.5725_*5726insCATATATATATATATATATATATATATATATATA TA	HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding		4928		chr21	TogoVar
HMMR_chr5_163455632_163496941	163494876	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03453.hp2 NA19009.hp2 HG01109.hp1 HG03453.hp2 NA19009.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0023 a0003c0003t0001g0049 a0003c0003t0001g0003 a0003c0003t0001g0023 a0003c0003t0001g0049	3	406	0.0074	36	c.37 others(47): Show c.3712_*3713insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	HMMR	ENSG00000072571.20	transcript	ENST00000393915.9	protein_coding		2936		chr5	TogoVar
HNF1A_chr12_120973543_121007512	120990596	T T	TGATAGGA others(29): Show TGATAGGAGAGGGAGGAAAGATAGGAAAGGGAGGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02004.hp1 HG01433.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	2	410	0.0049	36	c.526 others(53): Show c.526+1571_526+1572insGAGGGAGGAAAGATAGGAAAGGGAGGAA AGATAGGA	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
HNF1A_chr12_120973543_121007512	120990652	G G	GTAGGAAA others(29): Show GTAGGAAAGGGAGGAAAGATAGGAAAGGGAGGAAAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0038 a0005c0007t0001g0038	2	410	0.0049	36	c.526 others(53): Show c.526+1637_526+1638insATAGGAAAGGGAGGAAAGATAGGAAAGG GAGGAAAG	HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
HNRNPD_chr4_82347498_82378991	82347971	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02886.hp1 HG03041.hp1 others(3): Show HG02129.hp2 HG02886.hp1 HG03041.hp1 NA18948.hp2 NA18961.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0037 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0037 a0001c0001t0002g0141 a0001c0001t0002g0178 a0001c0001t0003g0001	6	332	0.0181	36	c.62 others(47): Show c.6213_*6214insTATATATATATATATATATATATATATATATATA TA	HNRNPD	ENSG00000138668.20	transcript	ENST00000313899.12	protein_coding		4526		chr4	TogoVar
HNRNPH2_chrX_101403222_101419133	101407461	C C	CGAGAGAG others(29): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	308	0.0033	36	c.-91 others(45): Show c.-912_-911insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	HNRNPH2	ENSG00000126945.9	transcript	ENST00000316594.6	protein_coding		760		chrX	TogoVar
HNRNPLL_chr2_38556969_38607928	38588546	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19063.hp2 NA18994.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0260 a0002c0002t0006g0261 a0002c0002t0006g0260 a0002c0002t0006g0261	2	338	0.0059	36	c.309 others(53): Show c.309-2666_309-2665insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	HNRNPLL	ENSG00000143889.16	transcript	ENST00000449105.8	protein_coding	2/12			chr2	TogoVar
HOMER2_chr15_82843983_82957720	82860956	T T	TGAGAGAG others(29): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0348 a0002c0002t0001g0348	1	348	0.0029	36	c.388 others(53): Show c.388-1822_388-1821insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82860978	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0341 a0002c0002t0001g0341	1	348	0.0029	36	c.388 others(53): Show c.388-1844_388-1843insCCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	4/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868523	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01952.hp1 HG04184.hp2 HG00323.hp1 HG01952.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0095 a0001c0001t0001g0168 a0001c0001t0003g0154 a0001c0001t0001g0095 a0001c0001t0001g0168 a0001c0001t0003g0154	3	348	0.0086	36	c.295 others(53): Show c.295-4265_295-4264insTATATATATATATATATATATATATATA TATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOMER2_chr15_82843983_82957720	82868541	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	348	0.0029	36	c.295 others(53): Show c.295-4283_295-4282insAAAATATATATATATATATATATATATA TATATATA	HOMER2	ENSG00000103942.13	transcript	ENST00000450735.7	protein_coding	3/8			chr15	TogoVar
HOOK1_chr1_59809949_59881322	59846585	T T	TCCTTCCT others(29): Show TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0233 a0001c0002t0010g0233	1	252	0.0040	36	c.789 others(51): Show c.789-457_789-456insTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HOXA3_chr7_27102010_27157583	27114817	A A	ATATATAT others(29): Show ATATATATATAATATATATTATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01934.hp2 HG01952.hp2 others(16): Show HG00558.hp1 HG01934.hp2 HG01952.hp2 HG02080.hp1 HG02083.hp2 HG02148.hp1 HG02293.hp2 HG02965.hp2 NA18951.hp2 NA18966.hp2 NA18970.hp1 NA18980.hp1 NA18981.hp1 NA18992.hp1 NA18997.hp1 NA18999.hp2 NA19009.hp1 NA19060.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0015 a0001c0001t0002 a0001c0001t0013 a0001c0001t0015	a0001c0001t0002g0016 a0001c0001t0002g0240 a0001c0001t0002g0245 others(15): Show a0001c0001t0002g0016 a0001c0001t0002g0240 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0283 a0001c0001t0013g0019 a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0015g0304 a0001c0001t0015g0305 a0001c0001t0015g0306 a0001c0001t0015g0307	19	326	0.0583	36	c.-12 others(55): Show c.-120-4093_-120-4058dupATATATATTATATATATAATATATAT TATATATATA	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	4/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140001	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA21309.hp2 NA18973.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0255 a0001c0001t0008g0269 a0001c0001t0008g0255 a0001c0001t0008g0269	2	326	0.0061	36	c.-39 others(51): Show c.-390+81_-390+82insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA3_chr7_27102010_27157583	27140014	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	326	0.0031	36	c.-39 others(51): Show c.-390+68_-390+69insCCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	HOXA3	ENSG00000105997.23	transcript	ENST00000612286.5	protein_coding	2/5			chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140001	C C	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA21309.hp1 NA18973.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0004g0006 a0001c0001t0003g0003 a0001c0001t0004g0006	2	398	0.0050	36	c.18 others(47): Show c.1833_*1834insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1050		chr7	TogoVar
HOXA5_chr7_27136052_27148681	27140014	A A	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	398	0.0025	36	c.18 others(47): Show c.1820_*1821insCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	HOXA5	ENSG00000106004.5	transcript	ENST00000222726.4	protein_coding		1037		chr7	TogoVar
HOXB6_chr17_48590751_48609986	48609254	A A	AAAGAGGT others(29): Show AAAGAGGTGCTGATGTCAGCCCTCCTGGGAAGGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	36	c.-46 others(47): Show c.-4643_-4608dupGTCTCCTTCCCAGGAGGGCTGACATCAGCACCTC TT	HOXB6	ENSG00000108511.10	transcript	ENST00000225648.4	protein_coding		4269		chr17	TogoVar
HOXC8_chr12_54003985_54017769	54014003	T T	TCTTCTCT others(29): Show TCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp2 NA19077.hp1 others(1): Show HG00558.hp2 HG00741.hp2 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0022g0001 a0001c0001t0001g0001 a0001c0001t0022g0001	4	306	0.0131	36	c.26 others(47): Show c.2622_*2623insCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC TC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1235		chr12	TogoVar
HP1BP3_chr1_20735266_20792307	20746186	A A	ATATGTGT others(29): Show ATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	378	0.0027	36	c.125 others(53): Show c.1254-531_1254-530insCACACACACACACACACACACACACACA CACACATA	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	11/12			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(29): Show CCACCACCACCACCACCGCCGCTGCCGCTACCACCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0264 a0001c0001t0004g0264	1	314	0.0032	36	c.-25 others(53): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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