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 per page.

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
HHIPL2_chr1_222517264_222553104	222552222	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0312 a0001c0003t0001g0312	1	418	0.0024	-23	c.-42 others(34): Show c.-4201_-4179delTTTTTTTTTTTTTTTTTTTTTTT	HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding		4119		chr1	TogoVar
HIBCH_chr2_190198920_190324826	190323836	AATTTTGT others(16): Show AATTTTGTATTTTTAGTAGAGATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0350	1	368	0.0027	-23	c.-41 others(34): Show c.-4109_-4087delCATCTCTACTAAAAATACAAAAT	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding		4011		chr2	TogoVar
HID1_chr17_74945742_74977759	74976742	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG02622.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0204 a0001c0001t0004g0009 a0001c0001t0004g0204	2	364	0.0055	-23	c.-41 others(34): Show c.-4109_-4087delATATATATATATATATATATATA	HID1	ENSG00000167861.16	transcript	ENST00000425042.7	protein_coding		3984		chr17	TogoVar
HINT3_chr6_125951770_125985244	125984193	GTGACCTC others(16): Show GTGACCTCTGCTGCTGGGACCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	268	0.0037	-23	c.65 others(34): Show c.6518_*6540delTGACCTCTGCTGCTGGGACCTGT	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding		3950		chr6	TogoVar
HIP1_chr7_75528298_75743941	75637989	CCCCCACA others(16): Show CCCCCACACACACACATACACACA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp2 HG03098.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0162 a0001c0001t0011g0012 a0001c0001t0003g0162 a0001c0001t0011g0012	2	254	0.0079	-23	c.121 others(42): Show c.121-38765_121-38743delTGTGTGTATGTGTGTGTGTGGGG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75637991	CCCACACA others(16): Show CCCACACACACACATACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02280.hp1 HG02071.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0034 a0001c0001t0011 a0001c0001t0034	a0001c0001t0011g0225 a0001c0001t0034g0129 a0001c0001t0011g0225 a0001c0001t0034g0129	2	254	0.0079	-23	c.121 others(42): Show c.121-38767_121-38745delTGTGTGTGTATGTGTGTGTGTGG	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIP1_chr7_75528298_75743941	75637993	CACACACA others(16): Show CACACACACACATACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	254	0.0039	-23	c.121 others(42): Show c.121-38769_121-38747delTGTGTGTGTGTATGTGTGTGTGT	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIVEP2_chr6_142746469_142950176	142777648	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18946.hp1 NA18747.hp2 NA18946.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0007 a0002c0010t0015 a0002c0010t0007 a0002c0010t0015	a0002c0010t0007g0114 a0002c0010t0015g0227 a0002c0010t0007g0114 a0002c0010t0015g0227	2	288	0.0069	-23	c.-43 others(42): Show c.-432-1480_-432-1458delTTTTTTTTTTTTTTTTTTTTTTT	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	3/9			chr6	TogoVar
HIVEP3_chr1_41501365_41923922	41688197	GTCTGACC others(16): Show GTCTGACCCCTTCTGTTGTTCTCC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0116 a0001c0001t0073g0116	1	134	0.0075	-23	c.-72 others(44): Show c.-721+12696_-721+12718delGGAGAACAACAGAAGGGGTCAGA	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	2/8			chr1	TogoVar
HLA-DRB1_chr6_32573775_32594848	32592323	AAAAATAG others(16): Show AAAAATAGTGTCTCGTTTACTTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00738.hp2 others(69): Show HG00323.hp1 HG00408.hp1 HG00738.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01884.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18955.hp1 NA18969.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA21309.hp1	a0002 a0006 a0007 others(9): Show a0002 a0006 a0007 a0011 a0012 a0013 a0017 a0018 a0022 a0027 a0028 a0032	a0002c0003 a0006c0005 a0007c0006 others(9): Show a0002c0003 a0006c0005 a0007c0006 a0011c0012 a0012c0013 a0013c0014 a0017c0019 a0018c0018 a0022c0022 a0027c0030 a0028c0031 a0032c0033	a0002c0003t0002 a0006c0005t0002 a0007c0006t0003 others(9): Show a0002c0003t0002 a0006c0005t0002 a0007c0006t0003 a0011c0012t0003 a0012c0013t0011 a0013c0014t0013 a0017c0019t0003 a0018c0018t0008 a0022c0022t0012 a0027c0030t0011 a0028c0031t0003 a0032c0033t0011	a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 others(37): Show a0002c0003t0002g0008 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0006c0005t0002g0006 a0006c0005t0002g0016 a0006c0005t0002g0034 a0006c0005t0002g0035 a0006c0005t0002g0043 a0007c0006t0003g0007 a0007c0006t0003g0018 a0007c0006t0003g0051 a0007c0006t0003g0053 a0011c0012t0003g0009 a0012c0013t0011g0082 a0012c0013t0011g0083 a0012c0013t0011g0085 a0012c0013t0011g0086 a0012c0013t0011g0087 a0012c0013t0011g0088 a0013c0014t0013g0011 a0017c0019t0003g0017 a0017c0019t0003g0052 a0018c0018t0008g0039 a0018c0018t0008g0040 a0018c0018t0008g0041 a0018c0018t0008g0042 a0022c0022t0012g0036 a0022c0022t0012g0037 a0022c0022t0012g0038 a0027c0030t0011g0089 a0028c0031t0003g0050 a0032c0033t0011g0084	72	208	0.3462	-23	c.-26 others(34): Show c.-2604_-2582delCAAAGTAAACGAGACACTATTTT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding		2476		chr6	TogoVar
HLCS_chr21_36743626_36971669	36888442	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01515.hp1 HG04228.hp1 HG01256.hp1 HG01515.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0008 a0001c0001t0004 a0001c0008t0008	a0001c0001t0004g0009 a0001c0001t0004g0032 a0001c0008t0008g0001 a0001c0001t0004g0009 a0001c0001t0004g0032 a0001c0008t0008g0001	3	258	0.0116	-23	c.189 others(42): Show c.1892+8395_1892+8417delATATATATATATATATATATTTT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888444	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	258	0.0039	-23	c.189 others(42): Show c.1892+8393_1892+8415delATATATATATATATATATATATT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLCS_chr21_36743626_36971669	36888446	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02723.hp1 HG03225.hp1 others(4): Show HG02135.hp1 HG02723.hp1 HG03225.hp1 HG04115.hp2 NA18942.hp1 NA18959.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0001t0028 a0001c0001t0102 a0002c0002t0015	a0001c0001t0001g0010 a0001c0001t0005g0056 a0001c0001t0005g0115 others(4): Show a0001c0001t0001g0010 a0001c0001t0005g0056 a0001c0001t0005g0115 a0001c0001t0019g0101 a0001c0001t0028g0167 a0001c0001t0102g0063 a0002c0002t0015g0142	7	258	0.0271	-23	c.189 others(42): Show c.1892+8391_1892+8413delATATATATATATATATATATATA	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLTF_chr3_149025127_149091533	149079373	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0255 a0001c0002t0003g0255	1	404	0.0025	-23	c.229 others(40): Show c.229-3349_229-3327delTTTTTTTTTTTTTTTTTTTTTTT	HLTF	ENSG00000071794.16	transcript	ENST00000310053.10	protein_coding	2/24			chr3	TogoVar
HMCN1_chr1_185729391_186195949	186086774	GTAGATAG others(16): Show GTAGATAGATAGATAGATAGATGA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0037 a0037	a0037c0038 a0037c0038	a0037c0038t0001 a0037c0038t0001	a0037c0038t0001g0038 a0037c0038t0001g0038	1	92	0.0109	-23	c.904 others(40): Show c.9046+385_9047-403delAGATGATAGATAGATAGATAGAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	58/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186086795	TGATAGAT others(16): Show TGATAGATAGATAGATAGATGATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp2 HG01069.hp1 HG02055.hp2	a0008 a0047 a0008 a0047	a0008c0009 a0047c0014 a0008c0009 a0047c0014	a0008c0009t0001 a0047c0014t0001 a0008c0009t0001 a0047c0014t0001	a0008c0009t0001g0084 a0047c0014t0001g0055 a0008c0009t0001g0084 a0047c0014t0001g0055	2	92	0.0217	-23	c.904 others(40): Show c.9047-402_9047-380delGATAGATAGATAGATAGATAGAT	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	58/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN2_chr9_130260760_130439123	130360304	ATTCCCCC others(16): Show ATTCCCCCTTGCATCTCTCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00741.hp1 others(33): Show HG00140.hp2 HG00609.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01981.hp2 HG02004.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03704.hp2 NA18747.hp2 NA18979.hp1 NA19030.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 homoSapiens_chm13v2.hp1	a0015 a0031 a0032 others(30): Show a0015 a0031 a0032 a0041 a0048 a0049 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0102 a0103 a0108 a0113 a0114 a0124 a0125 a0126 a0129 a0130 a0131 a0132 a0153 a0159 a0160 a0161 a0162 a0163	a0015c0008 a0031c0025 a0032c0026 others(30): Show a0015c0008 a0031c0025 a0032c0026 a0041c0034 a0048c0100 a0049c0101 a0057c0054 a0058c0111 a0059c0057 a0060c0058 a0061c0059 a0062c0049 a0063c0219 a0064c0056 a0065c0053 a0102c0108 a0103c0044 a0108c0031 a0113c0120 a0114c0220 a0124c0169 a0125c0163 a0126c0168 a0129c0156 a0130c0137 a0131c0157 a0132c0158 a0153c0172 a0159c0179 a0160c0180 a0161c0178 a0162c0181 a0163c0182	a0015c0008t0001 a0031c0025t0002 a0032c0026t0002 others(30): Show a0015c0008t0001 a0031c0025t0002 a0032c0026t0002 a0041c0034t0001 a0048c0100t0001 a0049c0101t0001 a0057c0054t0001 a0058c0111t0001 a0059c0057t0001 a0060c0058t0001 a0061c0059t0001 a0062c0049t0001 a0063c0219t0001 a0064c0056t0001 a0065c0053t0001 a0102c0108t0001 a0103c0044t0001 a0108c0031t0001 a0113c0120t0001 a0114c0220t0001 a0124c0169t0002 a0125c0163t0002 a0126c0168t0002 a0129c0156t0002 a0130c0137t0002 a0131c0157t0002 a0132c0158t0002 a0153c0172t0002 a0159c0179t0002 a0160c0180t0002 a0161c0178t0002 a0162c0181t0002 a0163c0182t0002	a0015c0008t0001g0025 a0015c0008t0001g0073 a0031c0025t0002g0190 others(33): Show a0015c0008t0001g0025 a0015c0008t0001g0073 a0031c0025t0002g0190 a0031c0025t0002g0191 a0032c0026t0002g0156 a0032c0026t0002g0164 a0041c0034t0001g0011 a0048c0100t0001g0026 a0049c0101t0001g0056 a0057c0054t0001g0213 a0058c0111t0001g0078 a0059c0057t0001g0115 a0060c0058t0001g0113 a0061c0059t0001g0080 a0062c0049t0001g0004 a0063c0219t0001g0017 a0064c0056t0001g0050 a0065c0053t0001g0024 a0102c0108t0001g0071 a0103c0044t0001g0102 a0108c0031t0001g0114 a0113c0120t0001g0021 a0114c0220t0001g0045 a0124c0169t0002g0216 a0125c0163t0002g0201 a0126c0168t0002g0238 a0129c0156t0002g0241 a0130c0137t0002g0243 a0131c0157t0002g0206 a0132c0158t0002g0247 a0153c0172t0002g0234 a0159c0179t0002g0167 a0160c0180t0002g0158 a0161c0178t0002g0227 a0162c0181t0002g0162 a0163c0182t0002g0159	36	258	0.1395	-23	c.577 others(38): Show c.5774-91_5774-69delGCATCTCTCTTCCTTTCCCCCTT	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	37/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMCN2_chr9_130260760_130439123	130360337	GCATCTCT others(16): Show GCATCTCTCTTCCTTTCCCCCTTA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02055.hp2 HG02145.hp2 others(16): Show HG01069.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0003 a0012 a0025 others(14): Show a0003 a0012 a0025 a0028 a0046 a0050 a0051 a0055 a0075 a0076 a0077 a0078 a0082 a0083 a0085 a0107 a0138	a0003c0051 a0012c0115 a0025c0024 others(15): Show a0003c0051 a0012c0115 a0025c0024 a0028c0135 a0028c0141 a0046c0043 a0050c0102 a0051c0107 a0055c0105 a0075c0110 a0076c0098 a0077c0215 a0078c0109 a0082c0052 a0083c0068 a0085c0097 a0107c0032 a0138c0136	a0003c0051t0001 a0012c0115t0001 a0025c0024t0002 others(15): Show a0003c0051t0001 a0012c0115t0001 a0025c0024t0002 a0028c0135t0002 a0028c0141t0002 a0046c0043t0001 a0050c0102t0001 a0051c0107t0001 a0055c0105t0001 a0075c0110t0001 a0076c0098t0001 a0077c0215t0001 a0078c0109t0001 a0082c0052t0001 a0083c0068t0001 a0085c0097t0001 a0107c0032t0001 a0138c0136t0002	a0003c0051t0001g0088 a0012c0115t0001g0049 a0025c0024t0002g0181 others(16): Show a0003c0051t0001g0088 a0012c0115t0001g0049 a0025c0024t0002g0181 a0025c0024t0002g0186 a0028c0135t0002g0239 a0028c0141t0002g0230 a0046c0043t0001g0006 a0050c0102t0001g0039 a0051c0107t0001g0153 a0055c0105t0001g0052 a0075c0110t0001g0058 a0076c0098t0001g0036 a0077c0215t0001g0040 a0078c0109t0001g0027 a0082c0052t0001g0089 a0083c0068t0001g0108 a0085c0097t0001g0019 a0107c0032t0001g0002 a0138c0136t0002g0237	19	258	0.0736	-23	c.577 others(38): Show c.5774-89_5774-67delATCTCTCTTCCTTTCCCCCTTAC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	37/97		INFO_REALIGN_3_PRIME	chr9	TogoVar
HMGB1_chr13_30451704_30470936	30465401	AGCCGCGC others(16): Show AGCCGCGCCGGCCCCGCCGCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	384	0.0026	-23	c.-15 others(38): Show c.-15+372_-15+394delCGGGGCGGCGGGGCCGGCGCGGC	HMGB1	ENSG00000189403.15	transcript	ENST00000341423.10	protein_coding	1/4			chr13	TogoVar
HMGCL_chr1_23796885_23830429	23830118	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	372	0.0027	-23	c.-47 others(34): Show c.-4726_-4704delTATATATATATATATATATATAT	HMGCL	ENSG00000117305.15	transcript	ENST00000374490.8	protein_coding		4690		chr1	TogoVar
HMGN5_chrX_81108699_81206913	81177362	GAAAGCAA others(16): Show GAAAGCAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	225	0.0044	-23	c.-12 others(44): Show c.-124+24352_-124+24374delTTTTTTTTTTTTTTTTTTGCTTT	HMGN5	ENSG00000198157.11	transcript	ENST00000358130.7	protein_coding	1/6			chrX	TogoVar
HMGXB3_chr5_149995739_150058128	150032088	TTTGTCTT others(16): Show TTTGTCTTCAGGCAGGGCTTGAAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03225.hp1 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0318 a0001c0003t0005g0319 a0001c0003t0005g0318 a0001c0003t0005g0319	2	380	0.0053	-23	c.183 others(40): Show c.1834-364_1834-342delTGTCTTCAGGCAGGGCTTGAACT	HMGXB3	ENSG00000113716.13	transcript	ENST00000502717.6	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
HOOK1_chr1_59809949_59881322	59846568	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02486.hp2 HG03579.hp2 HG01255.hp2 HG02486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0062 a0001c0001t0033 a0001c0001t0062	a0001c0001t0033g0189 a0001c0001t0033g0220 a0001c0001t0062g0190 a0001c0001t0033g0189 a0001c0001t0033g0220 a0001c0001t0062g0190	3	252	0.0119	-23	c.789 others(38): Show c.789-472_789-450delTCCTTCCTTCCTTCCTCCCTCCT	HOOK1	ENSG00000134709.13	transcript	ENST00000371208.5	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
HORMAD2_chr22_30075464_30182075	30129234	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	350	0.0029	-23	c.819 others(40): Show c.819+7022_819+7044delAAAAAAAAAAAAAAAAAAAAAGA	HORMAD2	ENSG00000176635.18	transcript	ENST00000336726.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
HOXC13_chr12_53933831_53951544	53942154	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	402	0.0025	-23	c.736 others(40): Show c.736+2527_736+2549delTTTTTTTTTTTTTTTTTTTTTTT	HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10349702	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0246 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0246	3	314	0.0096	-23	c.-11 others(44): Show c.-111+46540_-111+46562delAAAAAAAAAAAAAAAAAAAAAAA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPGDS_chr4_94293535_94347836	94340293	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTCTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	312	0.0032	-23	c.-10 others(40): Show c.-10+2479_-10+2501delAAAAAGAGAAAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPSE2_chr10_98452077_99240852	98618223	TTACAGCC others(16): Show TTACAGCCAGAATATAAACAACTA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0109 a0001c0001t0031g0109	1	142	0.0070	-23	c.120 others(42): Show c.1205+2356_1205+2378delTAGTTGTTTATATTCTGGCTGTA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	8/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99072927	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0002 a0001c0001t0008 a0002c0002t0002	a0001c0001t0008g0067 a0002c0002t0002g0087 a0001c0001t0008g0067 a0002c0002t0002g0087	2	142	0.0141	-23	c.610 others(42): Show c.610+71288_610+71310delTTTTTTTTTTTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HRH3_chr20_62209960_62225278	62213412	GGGTGGGG others(16): Show GGGTGGGGGAAGGAGAGCGGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	368	0.0027	-23	c.25 others(34): Show c.2571_*2593delATCCCCGCTCTCCTTCCCCCACC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1547		chr20	TogoVar
HRK_chr12_116851144_116886441	116854846	AAACACAC others(16): Show AAACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0200 a0001c0001t0102g0200	1	366	0.0027	-23	c.66 others(34): Show c.6654_*6676delGTGTGTGTGTGTGTGTGTGTGTT	HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding		1297		chr12	TogoVar
HS3ST1_chr4_11388150_11433894	11432957	AAAACAGG others(16): Show AAAACAGGATTTTTAAGATTATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	440	0.0023	-23	c.-43 others(34): Show c.-4390_-4368delAGATAATCTTAAAAATCCTGTTT	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		4064		chr4	TogoVar
HS6ST3_chr13_96085107_96844562	96118668	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	116	0.0086	-23	c.707 others(42): Show c.707+27101_707+27123delATATATATATATATATATATTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118670	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0085 a0001c0001t0005g0085	1	116	0.0086	-23	c.707 others(42): Show c.707+27103_707+27125delATATATATATATATATATTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96118674	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18747.hp1 HG02897.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0082 a0001c0001t0002g0094 a0001c0001t0001g0082 a0001c0001t0002g0094	2	116	0.0172	-23	c.707 others(42): Show c.707+27107_707+27129delATATATATATATATTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254435	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	116	0.0086	-23	c.707 others(44): Show c.707+162868_707+162890delAAAAAAAAAAAAATATATATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96254449	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0064 a0001c0001t0015g0064	1	116	0.0086	-23	c.707 others(44): Show c.707+162881_707+162903delTATATATATATATATATATATAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96317350	ATATATAT others(16): Show ATATATATATATATATATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18947.hp2 NA19007.hp1 others(1): Show HG00621.hp1 NA18947.hp2 NA19007.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0003g0057	4	116	0.0345	-23	c.707 others(44): Show c.707+225782_707+225804delTATATATATATATATATAAAATT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96317352	ATATATAT others(16): Show ATATATATATATATATAAAATTAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0061 a0002c0002t0005g0061	1	116	0.0086	-23	c.707 others(44): Show c.707+225784_707+225806delTATATATATATATATAAAATTAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1			chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96668686	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	116	0.0086	-23	c.708 others(44): Show c.708-163786_708-163764delTTTTTTTTTTTTTTTTTTTTTTT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSBP1L1_chr18_79959643_79975822	79969371	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	412	0.0024	-23	c.214 others(40): Show c.214-1065_214-1043delGAAAGAAAGAAAGAAAGAAAAAA	HSBP1L1	ENSG00000226742.4	transcript	ENST00000451882.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
HSD17B11_chr4_87331515_87396188	87378942	ATATATTT others(16): Show ATATATTTATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19007.hp1 NA19006.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0208 a0001c0001t0006g0171 a0001c0001t0001g0208 a0001c0001t0006g0171	2	390	0.0051	-23	c.318 others(40): Show c.318+3290_318+3312delAAAAATATATATATATAAATATA	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B13_chr4_87298794_87327882	87308485	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0357 a0001c0001t0003g0357	1	442	0.0023	-23	c.812 others(40): Show c.812+1735_812+1757delTTTTTTTTTTTTTTTTTTTTTTT	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding	6/6			chr4	TogoVar
HSD17B3_chr9_96230306_96307176	96255367	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	374	0.0027	-23	c.202 others(38): Show c.202-447_202-425delAAAAAAAAAAAAAAAAAAAAAAA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSF1_chr8_144286604_144319720	144313713	CCGCCTCC others(16): Show CCGCCTCCCCGCCCCGCCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	330	0.0061	-23	c.124 others(39): Show c.1248+110_1249-98delCCGCCTCCCCGCGCCTCCCCGCC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HSPA6_chr1_161519540_161531894	161529540	TAACTGTA others(16): Show TAACTGTAGATTTTATTCATGTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0005 a0005c0018t0005	a0005c0018t0005g0000 a0005c0018t0005g0000	1	456	0.0022	-23	c.29 others(34): Show c.2951_*2973delAACTGTAGATTTTATTCATGTTA	HSPA6	ENSG00000173110.8	transcript	ENST00000309758.6	protein_coding		2647		chr1	TogoVar
HSPA9_chr5_138548756_138580401	138555027	TTTTCATG others(16): Show TTTTCATGTTAGAGATCTAAAAAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG02451.hp2 HG02486.hp1 others(6): Show HG01243.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0015 a0001c0003t0003 a0001c0003t0015	a0001c0003t0003g0027 a0001c0003t0003g0133 a0001c0003t0003g0135 others(5): Show a0001c0003t0003g0027 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0015g0134	9	302	0.0298	-23	c.98 others(33): Show c.987_*1009delGTTTTTAGATCTCTAACATGAAA	HSPA9	ENSG00000113013.16	transcript	ENST00000297185.9	protein_coding	17/17	987		chr5	TogoVar
HSPA9_chr5_138548756_138580401	138555046	AAAACTTT others(16): Show AAAACTTTCATGTTAGAGATCTAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03486.hp2 NA18522.hp2 others(1): Show HG03139.hp2 HG03486.hp2 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0023 a0001c0003t0010 a0001c0001t0023 a0001c0003t0010	a0001c0001t0023g0094 a0001c0003t0010g0037 a0001c0003t0010g0042 others(1): Show a0001c0001t0023g0094 a0001c0003t0010g0037 a0001c0003t0010g0042 a0001c0003t0010g0044	4	302	0.0133	-23	c.96 others(32): Show c.968_*990delCTAGATCTCTAACATGAAAGTTT	HSPA9	ENSG00000113013.16	transcript	ENST00000297185.9	protein_coding	17/17	968		chr5	TogoVar
HTR1F_chr3_87787706_87998839	87979062	GGGGAGGG others(16): Show GGGGAGGGAGGGAGGGGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	250	0.0040	-23	c.-42 others(42): Show c.-42-11645_-42-11623delGGGAGGGAGGGAGGGGGGGAGGA	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2			chr3	TogoVar
HTR4_chr5_148476547_148659527	148646115	ACATTCAA others(16): Show ACATTCAAAGCATTTTTGAATCAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	310	0.0032	-23	c.-48 others(40): Show c.-48+7924_-48+7946delATGATTCAAAAATGCTTTGAATG	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	1/6			chr5	TogoVar

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Search Results (Total: 4709 hits)