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
SPIRE2_chr16_89823475_89876319	89852974	GGATCCCA others(33): Show GGATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCTCAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0073 a0013c0020t0001g0073	1	356	0.0028	-40	c.646 others(57): Show c.646-1298_646-1259delGTCTTCCATCCTCCCTCTCACCCTCAAG ATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4542307	TCAGAGAC others(33): Show TCAGAGACCATGTACCCACAGCCAAGCCAGTGGGGCAGGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0118 a0001c0001t0012g0118	1	404	0.0025	-40	c.48 others(51): Show c.4860_*4899delCAGAGACCATGTACCCACAGCCAAGCCAGTGGGG CAGGGA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3273		chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167222698	CATATAAA others(33): Show CATATAAACATAGATATATATTGATATATGAATATATAAAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0003 a0001c0005t0003g0003	1	144	0.0069	-40	c.189 others(59): Show c.189+11247_189+11286delATTTATATATTCATATATCAATATAT ATCTATGTTTATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167222805	ATGAATAT others(33): Show ATGAATATATAAATATATAAACATAGATATATATTGATATG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0008 a0001c0005t0003g0008	1	144	0.0069	-40	c.189 others(59): Show c.189+11140_189+11179delCATATCAATATATATCTATGTTTATA TATTTATATATTCA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14161237	TTATATAT others(33): Show TTATATATCTATATATTTATATATTTATATATCTGTATATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG01978.hp1 others(7): Show HG00323.hp1 HG01109.hp2 HG01978.hp1 HG02630.hp2 HG02683.hp1 HG02809.hp1 HG03098.hp1 HG04199.hp1 NA18966.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0008t0002	a0001c0001t0001g0141 a0001c0001t0002g0147 a0001c0001t0003g0181 others(7): Show a0001c0001t0001g0141 a0001c0001t0002g0147 a0001c0001t0003g0181 a0001c0002t0001g0003 a0001c0002t0001g0039 a0001c0002t0001g0054 a0001c0002t0001g0159 a0001c0002t0001g0164 a0001c0004t0001g0106 a0001c0008t0002g0022	10	224	0.0446	-40	c.825 others(59): Show c.825+25677_825+25716delCTATATATTTATATATTTATATATCT GTATATCTATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPP1_chr4_87970714_87988411	87984164	CAAAGAGA others(33): Show CAAAGAGACAAAAAATAACAGACACAGGCCAGGATTCGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	436	0.0023	-40	c.12 others(51): Show c.1269_*1308delAAAGAGACAAAAAATAACAGACACAGGCCAGGAT TCGGGG	SPP1	ENSG00000118785.15	transcript	ENST00000395080.8	protein_coding		754		chr4	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG02809.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0067 a0001c0001t0099 a0001c0002t0028 a0001c0001t0067 a0001c0001t0099 a0001c0002t0028	a0001c0001t0067g0094 a0001c0001t0099g0095 a0001c0002t0028g0069 a0001c0001t0067g0094 a0001c0001t0099g0095 a0001c0002t0028g0069	3	231	0.0130	-40	c.-28 others(61): Show c.-282+25683_-282+25722delATATATATATATATATATATATAT ATATATATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPSB1_chr1_9287894_9374532	9298400	GAGTGAAC others(33): Show GAGTGAACGAATGAATGAATAAGTGAACGAATGAATGAATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp2 others(31): Show HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01081.hp1 HG01192.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02258.hp1 HG02602.hp2 HG02683.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18941.hp2 NA19081.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0027 a0001c0002t0001 a0001c0002t0007 a0001c0002t0019 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0012	a0001c0001t0001g0144 a0001c0001t0001g0170 a0001c0001t0001g0171 others(30): Show a0001c0001t0001g0144 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0006g0162 a0001c0001t0006g0167 a0001c0001t0007g0165 a0001c0001t0015g0024 a0001c0001t0027g0164 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0174 a0001c0002t0007g0037 a0001c0002t0007g0163 a0001c0002t0007g0172 a0001c0002t0007g0173 a0001c0002t0007g0178 a0001c0002t0007g0179 a0001c0002t0019g0142 a0001c0003t0003g0001 a0001c0003t0003g0005 a0001c0003t0003g0183 a0001c0003t0004g0356 a0001c0003t0007g0004 a0001c0003t0012g0006	34	370	0.0919	-40	c.-15 others(59): Show c.-150+5336_-150+5375delCGAATGAATGAATAAGTGAACGAATG AATGAATAAGTGAA	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB1_chr1_9287894_9374532	9357149	GTGGATGG others(33): Show GTGGATGGATGGGTGGATGGATGGGTGGATGGATGAGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp1 HG02559.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0032 a0001c0001t0014 a0001c0001t0032	a0001c0001t0014g0215 a0001c0001t0032g0213 a0001c0001t0014g0215 a0001c0001t0032g0213	2	370	0.0054	-40	c.694 others(55): Show c.694+586_694+625delGGGTGGATGGATGAGTGGATGGATGGATGG GTGGATGGAT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPTLC3_chr20_13003972_13174103	13067044	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18949.hp1 NA18968.hp1 others(2): Show NA18946.hp1 NA18949.hp1 NA18968.hp1 NA19086.hp2 NA19091.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0033 a0008c0015t0002	a0001c0001t0001g0095 a0001c0001t0002g0015 a0001c0001t0002g0057 others(2): Show a0001c0001t0001g0095 a0001c0001t0002g0015 a0001c0001t0002g0057 a0001c0001t0033g0045 a0008c0015t0002g0050	5	292	0.0171	-40	c.304 others(57): Show c.304-5193_304-5154delATATATATATATATATATATATATATAT ATATATATATAT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRBD1_chr2_45383680_45616267	45415667	GGGAGGGG others(33): Show GGGAGGGGAGGGGAGGGGACGGGAGAGGAGAGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG04204.hp2 NA18522.hp1 HG03453.hp2 HG04204.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0257 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0257	3	358	0.0084	-40	c.233 others(59): Show c.2334-2414_2334-2375delTCTCCTCTCCTCTCCTCTCCCGTCCC CTCCCCTCCCCTCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0084 a0001c0006t0084	a0001c0006t0084g0018 a0001c0006t0084g0018	1	170	0.0059	-40	c.68- others(52): Show c.68-131_68-92delATATATATATATATATATATATATATATATATA TATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883336	AGCGGCGC others(33): Show AGCGGCGCGGGGGAAAAAGCCGTGGCGGGCAGAAAGGCGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0031 a0002c0002t0001g0031	1	56	0.0179	-40	c.87 others(51): Show c.8784_*8823delCGCGCCTTTCTGCCCGCCACGGCTTTTTCCCCCG CGCCGC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3951		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883742	TGGGGAAA others(33): Show TGGGGAAAAAGCCGCGGCGGTGGGGGGCAAAATCCCGCGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0014 a0007c0006t0014	a0007c0006t0014g0007 a0007c0006t0014g0007	1	56	0.0179	-40	c.83 others(51): Show c.8378_*8417delGCCGCGGGATTTTGCCCCCCACCGCCGCGGCTTT TTCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3545		chr1	TogoVar
SRP68_chr17_76033785_76077517	76062644	TATACATT others(33): Show TATACATTATATATTATATAATATACATTATATAATATATA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0101 a0001c0015t0002g0101	1	365	0.0027	-40	c.562 others(57): Show c.562-1110_562-1071delTATATATTATATAATGTATATTATATAA TATATAATGTAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK2_chr7_105111374_105393921	105170836	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18945.hp1 NA18970.hp2 others(4): Show HG01975.hp1 NA18945.hp1 NA18970.hp2 NA19058.hp1 NA19074.hp1 NA19078.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 others(4): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0200	7	282	0.0248	-40	c.230 others(57): Show c.230-1611_230-1572delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRRM3_chr7_76196896_76292287	76223820	GCCTTCCC others(33): Show GCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 NA18963.hp2 HG02257.hp2 HG03486.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0319 a0001c0001t0001g0320 a0002c0002t0003g0306 a0001c0001t0001g0319 a0001c0001t0001g0320 a0002c0002t0003g0306	3	324	0.0093	-40	c.-39 others(59): Show c.-39-11174_-39-11135delTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76227115	CAGTGGTA others(33): Show CAGTGGTAGGGTAAAGACTTCCCATGTGCTGCTCTCAGCCA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0265 a0001c0001t0008g0265	1	324	0.0031	-40	c.-39 others(57): Show c.-39-7911_-39-7872delGTGGTAGGGTAAAGACTTCCCATGTGCT GCTCTCAGCCAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SSBP3_chr1_54220432_54411394	54233105	GCCCGGCC others(33): Show GCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	280	0.0036	-40	c.928 others(57): Show c.928-4319_928-4280delAAGAGGCGCTCCTCACTTCCTAGATGGG ATGGCGGCCGGG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54233232	GCCCCATC others(33): Show GCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCGA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0005	1	280	0.0036	-40	c.928 others(57): Show c.928-4446_928-4407delTCGCGGCCGGGCAGAGGCGCTCCTCACA TCCCAGATGGGG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSH1_chr12_108773191_108862583	108850190	AAGATGGG others(33): Show AAGATGGGGAGGGGAGCTCCAGGAGGGAGCTGGGGGAGGGC	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0304 a0001c0003t0039g0304	1	332	0.0030	-40	c.110 others(57): Show c.110+2408_110+2447delGCCCTCCCCCAGCTCCCTCCTGGAGCTC CCCTCCCCATCT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108850230	CAGATGGG others(33): Show CAGATGGGGAGGGGAGCTCCAGGAGGGAGCTGGGGGAGGGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0291 a0001c0002t0003g0291	1	332	0.0030	-40	c.110 others(57): Show c.110+2368_110+2407delCCCCTCCCCCAGCTCCCTCCTGGAGCTC CCCTCCCCATCT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
SSH2_chr17_29620938_29935228	29895242	ATTATATA others(33): Show ATTATATATACATTTTATATATGAAATATATAAAATATATT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03942.hp1 HG03453.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0003g0101 a0001c0001t0001g0037 a0001c0001t0003g0101	2	232	0.0086	-40	c.63+ others(57): Show c.63+34656_63+34695delAATATATTTTATATATTTCATATATAAA ATGTATATATAA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895610	TACATTTT others(33): Show TACATTTTATATATGAAATATATAAAATATATTTTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	232	0.0043	-40	c.63+ others(57): Show c.63+34288_63+34327delGTATATAAAATATATTTTATATATTTCA TATATAAAATGT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSU72L4_chr11_4282084_4293185	4283275	CTGAGGAG others(33): Show CTGAGGAGTGTCTCTGCCCGACCGCCACCCCGTCTGGGAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	318	0.0031	-40	c.41 others(51): Show c.4184_*4223delCCTCCCAGACGGGGTGGCGGTCGGGCAGAGACAC TCCTCA	SSU72L4	ENSG00000283873.2	transcript	ENST00000638166.2	protein_coding		3808		chr11	TogoVar
ST3GAL1_chr8_133449848_133576887	133551504	CAGAAAGA others(33): Show CAGAAAGACAGAAAGAAAGAAAGAGAAAGAAAGAGAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0035 a0001c0017t0035	a0001c0017t0035g0006 a0001c0017t0035g0006	1	332	0.0030	-40	c.-58 others(59): Show c.-581-5618_-581-5579delTTCCTTCTCTTTCTTTCTCTTTCTTT CTTTCTGTCTTTCT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133551512	CAGAAAGA others(33): Show CAGAAAGAAAGAAAGAGAAAGAAAGAGAAGGAAAGAAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp2 HG02976.hp1 others(1): Show HG01106.hp2 HG02257.hp2 HG02976.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0005 a0001c0002 a0001c0004 a0002c0005	a0001c0002t0027 a0001c0004t0003 a0001c0004t0006 others(1): Show a0001c0002t0027 a0001c0004t0003 a0001c0004t0006 a0002c0005t0003	a0001c0002t0027g0316 a0001c0004t0003g0022 a0001c0004t0006g0052 others(1): Show a0001c0002t0027g0316 a0001c0004t0003g0022 a0001c0004t0006g0052 a0002c0005t0003g0299	4	332	0.0121	-40	c.-58 others(59): Show c.-581-5626_-581-5587delTTCTTTCTTTCCTTCTCTTTCTTTCT CTTTCTTTCTTTCT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	1/9			chr8	TogoVar
ST6GAL1_chr3_186925526_187083553	186926202	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	362	0.0028	-40	c.-49 others(51): Show c.-4956_-4917delATATATATATATATATATATATATATATATATAT ATATAT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding		4323		chr3	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76070394	CATATTTA others(33): Show CATATTTACTTTTAATTGATTATGTTTTTTTTTTTAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0001 a0002c0002t0007g0001	1	102	0.0098	-40	c.-44 others(51): Show c.-4472_-4433delATATTTACTTTTAATTGATTATGTTTTTTTTTTT AAAAAA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding		4351		chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76112593	CGCGCGGA others(33): Show CGCGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG03225.hp1 others(2): Show HG02896.hp2 HG03130.hp2 HG03225.hp1 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004	a0001c0001t0003 a0001c0001t0019 a0001c0003t0022 others(2): Show a0001c0001t0003 a0001c0001t0019 a0001c0003t0022 a0002c0002t0014 a0002c0004t0001	a0001c0001t0003g0102 a0001c0001t0019g0082 a0001c0003t0022g0020 others(2): Show a0001c0001t0003g0102 a0001c0001t0019g0082 a0001c0003t0022g0020 a0002c0002t0014g0084 a0002c0004t0001g0083	5	102	0.0490	-40	c.18+ others(57): Show c.18+37711_18+37750delCGCGGAGGGGCTCCTCACTTCTCAGACG GGGCGGTTGCTG	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76112621	CGGGGCGG others(33): Show CGGGGCGGTTGCTGGGCGGAGGGGCTCCTCACTTCTCAGAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0060 a0002c0002t0007g0060	1	102	0.0098	-40	c.18+ others(57): Show c.18+37749_18+37788delTGGGCGGAGGGGCTCCTCACTTCTCAGA TGGGGCGGTTGC	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76277550	ATATATAT others(33): Show ATATATATATATATATATACACACACACATATGTTTATGTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0072 a0002c0002t0009g0072	1	102	0.0098	-40	c.19- others(57): Show c.19-36236_19-36197delCACACACACATATGTTTATGTGTATATA TATATATATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAC_chr3_36375504_36553007	36398295	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGCAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19068.hp1 NA19070.hp2 NA18948.hp1 NA19068.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0005g0037 a0001c0002t0003g0036 a0001c0002t0003g0038 a0001c0002t0005g0037	3	316	0.0095	-40	c.111 others(59): Show c.111+17566_111+17605delCAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAG	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136723202	GTGAGGAG others(33): Show GTGAGGAGCGTCTCTGCCCGGCTGCCATCCCATCTAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0183 a0001c0002t0005g0183	1	240	0.0042	-40	c.-84 others(59): Show c.-84+28953_-84+28992delTTTCCTAGATGGGATGGCAGCCGGGC AGAGACGCTCCTCA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAT3_chr17_42308324_42393442	42337874	AACTCCTT others(33): Show AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02572.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0004g0007 a0001c0001t0004g0008	2	302	0.0066	-40	c.551 others(53): Show c.551-57_551-18delATTCCCTCAGGTCAAGGAGTATTCCCTCAGGT CAAGGAGT	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42337961	GGACCTGA others(33): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp2 HG01192.hp1 others(12): Show HG00280.hp1 HG01167.hp2 HG01192.hp1 HG01255.hp2 HG01515.hp2 HG02148.hp2 HG02572.hp1 HG02738.hp1 HG03130.hp2 HG03710.hp1 HG03927.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0032	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0130 others(12): Show a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0130 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0301 a0001c0001t0004g0007 a0001c0001t0009g0048 a0001c0001t0010g0291 a0001c0001t0032g0276	15	302	0.0497	-40	c.551 others(55): Show c.551-144_551-105delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338141	GGACCTGA others(33): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG03098.hp2 HG01884.hp1 HG02258.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023	3	302	0.0099	-40	c.551 others(55): Show c.551-324_551-285delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338221	GGACCTGA others(33): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 NA18979.hp2 others(2): Show HG02572.hp1 HG02717.hp2 NA18979.hp2 NA19068.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0090 a0001c0001t0003g0096 a0001c0001t0003g0097 others(2): Show a0001c0001t0003g0090 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0004g0007 a0001c0001t0004g0008	5	302	0.0166	-40	c.551 others(55): Show c.551-404_551-365delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338261	TGACCTGA others(33): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	302	0.0033	-40	c.550 others(55): Show c.550+430_551-405delCAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338381	TGACCTGA others(33): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	302	0.0033	-40	c.550 others(55): Show c.550+310_550+349delCAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338461	GGACCTGA others(33): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19068.hp1 NA19081.hp2 NA18979.hp2 NA19068.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0090 a0001c0001t0003g0096 a0001c0001t0003g0097	3	302	0.0099	-40	c.550 others(55): Show c.550+230_550+269delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338481	GGACCTGA others(33): Show GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp1 HG02717.hp2 HG01167.hp2 HG02572.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0009g0048 a0001c0001t0004g0007 a0001c0001t0004g0008 a0001c0001t0009g0048	3	302	0.0099	-40	c.550 others(55): Show c.550+210_550+249delAAGGAGTATTCCCTCAGGTCAAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338501	TGACCTGA others(33): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0156 a0001c0001t0005g0155 a0001c0001t0003g0156 a0001c0001t0005g0155	2	302	0.0066	-40	c.550 others(55): Show c.550+190_550+229delCAGGAGTATTCCCTCAGGTCAAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338521	TGACCTGA others(33): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	302	0.0033	-40	c.550 others(55): Show c.550+170_550+209delCAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT6_chr12_57090408_57116362	57100676	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	368	0.0027	-40	c.151 others(57): Show c.1513-626_1513-587delTTCTTTCTTTCTTTCTCTTTCTTTCTTT CTTTCTTTCTTT	STAT6	ENSG00000166888.12	transcript	ENST00000300134.8	protein_coding	13/21			chr12	TogoVar
STEAP4_chr7_88265892_88311894	88266771	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	318	0.0031	-40	c.12 others(53): Show c.12587_*12626delCCTCTTCCCGGCCGCCATCCCATCTAGGAAGT GAGGAGCG	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding		4120		chr7	TogoVar
STEAP4_chr7_88265892_88311894	88266824	CCTAGATG others(33): Show CCTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	318	0.0031	-40	c.12 others(53): Show c.12534_*12573delAAAGTGAGGAGCGCCTCTTCCCGGCCGCCATC CCATCTAG	STEAP4	ENSG00000127954.13	transcript	ENST00000380079.9	protein_coding		4067		chr7	TogoVar
STIM1_chr11_3850664_4098208	3895643	TTTCTTTC others(33): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18963.hp2 NA18971.hp1 others(2): Show HG01074.hp2 NA18963.hp2 NA18971.hp1 NA19005.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002	a0001c0001t0008g0123 a0001c0002t0001g0102 a0001c0002t0001g0113 others(2): Show a0001c0001t0008g0123 a0001c0002t0001g0102 a0001c0002t0001g0113 a0001c0002t0001g0187 a0001c0002t0002g0033	5	300	0.0167	-40	c.139 others(59): Show c.139+39266_139+39305delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIP1_chr11_64181171_64209543	64187478	TGACTACC others(33): Show TGACTACCATCCTTTTTTTGGTGTGAGCTACAGAGCTGAGC	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	378	0.0027	-40	c.9+1 others(53): Show c.9+1209_9+1248delGACTACCATCCTTTTTTTGGTGTGAGCTACAG AGCTGAGC	STIP1	ENSG00000168439.17	transcript	ENST00000305218.9	protein_coding	1/13			chr11	TogoVar
STK32B_chr4_5046480_5505989	5249422	TCTTCCTT others(33): Show TCTTCCTTCCTTCCTACCTACCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0001 a0001c0001t0021 a0002c0002t0001	a0001c0001t0021g0134 a0002c0002t0001g0145 a0001c0001t0021g0134 a0002c0002t0001g0145	2	170	0.0118	-40	c.260 others(59): Show c.260+80987_260+81026delACCTACCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 3176 hits)