Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
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	247	0.0040	-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	33	0.0606	-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	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	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	a0003 a0006 a0007 others(9): Show a0003 a0006 a0007 a0010 a0012 a0015 a0016 a0018 a0023 a0026 a0031 a0032	a0003c0003 a0006c0005 a0007c0006 others(9): Show a0003c0003 a0006c0005 a0007c0006 a0010c0013 a0012c0012 a0015c0014 a0016c0018 a0018c0019 a0023c0022 a0026c0031 a0031c0030 a0032c0033	a0003c0003t0002 a0006c0005t0002 a0007c0006t0003 others(9): Show a0003c0003t0002 a0006c0005t0002 a0007c0006t0003 a0010c0013t0011 a0012c0012t0003 a0015c0014t0013 a0016c0018t0008 a0018c0019t0003 a0023c0022t0012 a0026c0031t0003 a0031c0030t0011 a0032c0033t0011	a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 others(27): Show a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0028 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0002g0043 a0003c0003t0002g0044 a0006c0005t0002g0007 a0006c0005t0002g0014 a0006c0005t0002g0036 a0006c0005t0002g0040 a0007c0006t0003g0004 a0007c0006t0003g0046 a0007c0006t0003g0048 a0010c0013t0011g0020 a0010c0013t0011g0061 a0010c0013t0011g0062 a0012c0012t0003g0010 a0015c0014t0013g0013 a0016c0018t0008g0027 a0016c0018t0008g0038 a0016c0018t0008g0039 a0018c0019t0003g0022 a0018c0019t0003g0047 a0023c0022t0012g0026 a0023c0022t0012g0037 a0026c0031t0003g0045 a0031c0030t0011g0064 a0032c0033t0011g0063	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 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0122 a0001c0001t0005g0093 a0001c0001t0005g0105 a0001c0001t0004g0122 a0001c0001t0005g0093 a0001c0001t0005g0105	3	240	0.0125	-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	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	236	0.0042	-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 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0018 a0001c0001t0076 a0002c0002t0010	a0001c0001t0001g0108 a0001c0001t0002g0149 a0001c0001t0002g0209 others(4): Show a0001c0001t0001g0108 a0001c0001t0002g0149 a0001c0001t0002g0209 a0001c0001t0012g0187 a0001c0001t0018g0037 a0001c0001t0076g0099 a0002c0002t0010g0216	7	186	0.0376	-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	32	0.0313	-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	a0021 a0021	a0021c0038 a0021c0038	a0021c0038t0001 a0021c0038t0001	a0021c0038t0001g0037 a0021c0038t0001g0037	1	90	0.0111	-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	a0007 a0023 a0007 a0023	a0007c0009 a0023c0014 a0007c0009 a0023c0014	a0007c0009t0001 a0023c0014t0001 a0007c0009t0001 a0023c0014t0001	a0007c0009t0001g0084 a0023c0014t0001g0055 a0007c0009t0001g0084 a0023c0014t0001g0055	2	89	0.0225	-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(32): 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	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0009 a0010 a0014 a0026 a0033 a0036 a0037 a0041 a0044 a0049 a0056 a0068 a0069 a0073 a0081 a0085	a0001c0031 a0001c0049 a0001c0053 others(29): Show a0001c0031 a0001c0049 a0001c0053 a0001c0056 a0001c0100 a0001c0219 a0001c0220 a0002c0054 a0002c0101 a0003c0008 a0003c0034 a0003c0057 a0003c0058 a0003c0059 a0003c0108 a0003c0111 a0009c0044 a0010c0026 a0014c0025 a0026c0172 a0033c0181 a0036c0178 a0037c0169 a0041c0156 a0044c0168 a0049c0137 a0056c0182 a0068c0157 a0069c0120 a0073c0163 a0081c0180 a0085c0158	a0001c0031t0001 a0001c0049t0001 a0001c0053t0001 others(29): Show a0001c0031t0001 a0001c0049t0001 a0001c0053t0001 a0001c0056t0001 a0001c0100t0001 a0001c0219t0001 a0001c0220t0001 a0002c0054t0001 a0002c0101t0001 a0003c0008t0001 a0003c0034t0001 a0003c0057t0001 a0003c0058t0001 a0003c0059t0001 a0003c0108t0001 a0003c0111t0001 a0009c0044t0001 a0010c0026t0002 a0014c0025t0002 a0026c0172t0002 a0033c0181t0002 a0036c0178t0002 a0037c0169t0002 a0041c0156t0002 a0044c0168t0002 a0049c0137t0002 a0056c0182t0002 a0068c0157t0002 a0069c0120t0001 a0073c0163t0002 a0081c0180t0002 a0085c0158t0002	a0001c0031t0001g0076 a0001c0049t0001g0005 a0001c0053t0001g0030 others(32): Show a0001c0031t0001g0076 a0001c0049t0001g0005 a0001c0053t0001g0030 a0001c0056t0001g0050 a0001c0100t0001g0027 a0001c0219t0001g0017 a0001c0220t0001g0047 a0002c0054t0001g0241 a0002c0101t0001g0056 a0003c0008t0001g0026 a0003c0008t0001g0062 a0003c0034t0001g0011 a0003c0057t0001g0085 a0003c0058t0001g0063 a0003c0059t0001g0072 a0003c0108t0001g0060 a0003c0111t0001g0070 a0009c0044t0001g0134 a0010c0026t0002g0182 a0010c0026t0002g0184 a0014c0025t0002g0156 a0014c0025t0002g0157 a0026c0172t0002g0227 a0033c0181t0002g0181 a0036c0178t0002g0239 a0037c0169t0002g0228 a0041c0156t0002g0243 a0044c0168t0002g0222 a0049c0137t0002g0208 a0056c0182t0002g0172 a0068c0157t0002g0190 a0069c0120t0001g0024 a0073c0163t0002g0198 a0081c0180t0002g0178 a0085c0158t0002g0219	35	256	0.1367	-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	a0001 a0002 a0015 others(4): Show a0001 a0002 a0015 a0017 a0021 a0064 a0079	a0001c0032 a0001c0051 a0001c0052 others(15): Show a0001c0032 a0001c0051 a0001c0052 a0001c0097 a0001c0098 a0001c0102 a0001c0105 a0001c0107 a0001c0115 a0001c0215 a0002c0109 a0015c0068 a0015c0110 a0017c0135 a0017c0141 a0021c0024 a0064c0043 a0079c0136	a0001c0032t0001 a0001c0051t0001 a0001c0052t0001 others(15): Show a0001c0032t0001 a0001c0051t0001 a0001c0052t0001 a0001c0097t0001 a0001c0098t0001 a0001c0102t0001 a0001c0105t0001 a0001c0107t0001 a0001c0115t0001 a0001c0215t0001 a0002c0109t0001 a0015c0068t0001 a0015c0110t0001 a0017c0135t0002 a0017c0141t0002 a0021c0024t0002 a0064c0043t0001 a0079c0136t0002	a0001c0032t0001g0002 a0001c0051t0001g0094 a0001c0052t0001g0095 others(16): Show a0001c0032t0001g0002 a0001c0051t0001g0094 a0001c0052t0001g0095 a0001c0097t0001g0023 a0001c0098t0001g0039 a0001c0102t0001g0019 a0001c0105t0001g0051 a0001c0107t0001g0153 a0001c0115t0001g0049 a0001c0215t0001g0025 a0002c0109t0001g0029 a0015c0068t0001g0148 a0015c0110t0001g0081 a0017c0135t0002g0223 a0017c0141t0002g0245 a0021c0024t0002g0192 a0021c0024t0002g0193 a0064c0043t0001g0009 a0079c0136t0002g0209	19	256	0.0742	-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	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	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	a0001c0001t0001g0234 a0001c0001t0001g0234	1	370	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	a0002c0002t0002g0016 a0002c0002t0002g0016	1	223	0.0045	-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	a0001c0003t0005g0303 a0001c0003t0005g0304 a0001c0003t0005g0303 a0001c0003t0005g0304	2	378	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	a0001c0001t0033g0167 a0001c0001t0033g0190 a0001c0001t0062g0168 a0001c0001t0033g0167 a0001c0001t0033g0190 a0001c0001t0062g0168	3	250	0.0120	-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	a0001c0001t0001g0119 a0001c0001t0001g0119	1	348	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	13	0.0769	-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	10	0.3000	-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	a0001c0001t0002g0019 a0001c0001t0002g0019	1	292	0.0034	-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	13	0.1538	-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	356	0.0028	-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	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0199 a0001c0001t0101g0199	1	363	0.0028	-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	a0001c0001t0005g0020 a0001c0001t0005g0020	1	438	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	104	0.0096	-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	95	0.0105	-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	106	0.0189	-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	115	0.0087	-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	102	0.0098	-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	83	0.0482	-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	a0002c0002t0005g0060 a0002c0002t0005g0060	1	105	0.0095	-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	6	0.1667	-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	a0001c0001t0001g0093 a0001c0001t0001g0093	1	410	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	a0001c0001t0001g0200 a0001c0001t0006g0165 a0001c0001t0001g0200 a0001c0001t0006g0165	2	387	0.0052	-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	a0001c0001t0003g0356 a0001c0001t0003g0356	1	36	0.0278	-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	24	0.0417	-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	a0001c0001t0001g0012 a0001c0001t0001g0012	2	328	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	454	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 a0001c0003t0014 a0001c0003t0003 a0001c0003t0014	a0001c0003t0003g0027 a0001c0003t0003g0133 a0001c0003t0003g0135 others(5): Show a0001c0003t0003g0027 a0001c0003t0003g0133 a0001c0003t0003g0135 a0001c0003t0003g0136 a0001c0003t0003g0137 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0014g0134	9	300	0.0300	-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	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0094 a0001c0003t0004g0037 a0001c0003t0004g0042 others(1): Show a0001c0001t0001g0094 a0001c0003t0004g0037 a0001c0003t0004g0042 a0001c0003t0004g0044	4	300	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	185	0.0054	-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	a0001c0001t0014g0004 a0001c0001t0014g0004	1	308	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
HTRA3_chr4_8264754_8312098	8301262	TTCACACT others(16): Show TTCACACTCATCTTTATTATTGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 HG01243.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0001g0134 a0001c0001t0001g0165	2	386	0.0052	-23	c.105 others(42): Show c.1052-1178_1052-1156delGTCACACTCATCTTTATTATTGA		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
HTRA3_chr4_8264754_8312098	8301285	GTCACACT others(16): Show GTCACACTCATCTTTATTATTGAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0061 a0002c0002t0009g0061	1	385	0.0026	-23	c.105 others(42): Show c.1052-1155_1052-1133delTTCACACTCATCTTTATTATTGA		HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074913	CAGCAGCA others(16): Show CAGCAGCAGCAGCAGCAGCAGCAA	C C	frameshift_variant frameshift_variant	HIGH	HG01070.hp1 HG01070.hp1	a0034 a0034	a0034c0044 a0034c0044	a0034c0044t0002 a0034c0044t0002	a0034c0044t0002g0187 a0034c0044t0002g0187	1	292	0.0034	-23	c.89_ others(29): Show c.89_111delAGCAGCAGCAGCAGCAGCAGCAA	p.Gln others(4): Show p.Gln30fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	234/13472	89/9429	30/3142			chr4	TogoVar
HTT_chr4_3069681_3248957	3099871	CTTGTATG others(16): Show CTTGTATGGTTTGGAGGTGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG01243.hp2 others(11): Show HG00609.hp1 HG01243.hp1 HG01243.hp2 HG02055.hp2 HG02145.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp1 HG03471.hp2 HG03579.hp1 HG03579.hp2	a0002 a0004 a0011 others(3): Show a0002 a0004 a0011 a0012 a0021 a0040	a0002c0001 a0004c0066 a0011c0021 others(5): Show a0002c0001 a0004c0066 a0011c0021 a0011c0034 a0011c0079 a0012c0006 a0021c0112 a0040c0043	a0002c0001t0002 a0004c0066t0003 a0011c0021t0003 others(6): Show a0002c0001t0002 a0004c0066t0003 a0011c0021t0003 a0011c0034t0015 a0011c0034t0016 a0011c0079t0029 a0012c0006t0003 a0021c0112t0016 a0040c0043t0015	a0002c0001t0002g0159 a0004c0066t0003g0071 a0011c0021t0003g0014 others(11): Show a0002c0001t0002g0159 a0004c0066t0003g0071 a0011c0021t0003g0014 a0011c0021t0003g0017 a0011c0021t0003g0018 a0011c0034t0015g0004 a0011c0034t0016g0009 a0011c0079t0029g0007 a0012c0006t0003g0015 a0012c0006t0003g0016 a0012c0006t0003g0019 a0012c0006t0003g0022 a0021c0112t0016g0006 a0040c0043t0015g0005	14	292	0.0479	-23	c.468 others(38): Show c.468+523_468+545delGTTGTATGGTTTGGAGGTGCTCT		HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	3/66					INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1_chr7_47958288_47984615	47958789	CTCTCCCT others(16): Show CTCTCCCTCTCCCTCTCCCCACGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0029 a0001c0001t0009g0029	2	408	0.0049	-23	c.65 others(34): Show c.6544_*6566delCCGTGGGGAGAGGGAGAGGGAGA		HUS1	ENSG00000136273.13	transcript	ENST00000258774.10	protein_coding					4498		chr7	TogoVar
HYCC1_chr7_22929211_23019130	22940236	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp2 NA18984.hp2 NA19005.hp1 others(4): Show NA18943.hp2 NA18984.hp2 NA19005.hp1 NA19058.hp2 NA19062.hp1 NA19066.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0023 a0001c0002t0018 a0001c0002t0023	a0001c0002t0018g0017 a0001c0002t0018g0211 a0001c0002t0018g0221 others(2): Show a0001c0002t0018g0017 a0001c0002t0018g0211 a0001c0002t0018g0221 a0001c0002t0023g0016 a0001c0002t0023g0220	7	37	0.1892	-23	c.53 others(34): Show c.5330_*5352delAAAAAAAAAAAAAAAAAAAAAAA		HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding	11/11				5330		chr7	TogoVar

Search by Variant

Search

Search Results