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
TENM4_chr11_78647829_79446030	79164243	A A	ATAGTATA others(18): Show ATAGTATATATAGTATATAGATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(27): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01243.hp1 HG01361.hp1 HG01361.hp2 HG01978.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG03669.hp1 HG04204.hp2 NA18906.hp1 NA18964.hp2 NA20752.hp1 NA20752.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0013	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0022 a0001c0024 a0001c0025 a0001c0030 a0001c0032 a0001c0037 a0001c0038 a0001c0043 a0001c0048 a0004c0031 a0006c0009 a0013c0047	a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 others(24): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0020 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0045 a0001c0003t0035 a0001c0004t0028 a0001c0005t0002 a0001c0005t0004 a0001c0006t0005 a0001c0007t0050 a0001c0011t0036 a0001c0013t0043 a0001c0022t0033 a0001c0024t0019 a0001c0025t0006 a0001c0030t0051 a0001c0032t0023 a0001c0037t0039 a0001c0038t0004 a0001c0043t0024 a0001c0048t0003 a0004c0031t0049 a0006c0009t0031 a0013c0047t0041	a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0007g0063 others(27): Show a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0007g0063 a0001c0001t0020g0005 a0001c0001t0026g0011 a0001c0002t0002g0036 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0045g0059 a0001c0003t0035g0038 a0001c0004t0028g0010 a0001c0005t0002g0041 a0001c0005t0004g0002 a0001c0006t0005g0023 a0001c0007t0050g0051 a0001c0011t0036g0045 a0001c0013t0043g0073 a0001c0022t0033g0034 a0001c0024t0019g0001 a0001c0025t0006g0053 a0001c0030t0051g0052 a0001c0032t0023g0014 a0001c0037t0039g0019 a0001c0038t0004g0003 a0001c0043t0024g0015 a0001c0048t0003g0064 a0004c0031t0049g0072 a0006c0009t0031g0021 a0013c0047t0041g0047	30	94	0.3192	25	c.-16 others(46): Show c.-162-15462_-162-15438dupGTATATCTATATACTATATATACT A	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79164298	A A	ATATATAG others(18): Show ATATATAGTATATAGATATACTAGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG02630.hp1 HG02965.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0044 a0001c0001 a0005c0044	a0001c0001t0013 a0005c0044t0030 a0001c0001t0013 a0005c0044t0030	a0001c0001t0013g0070 a0005c0044t0030g0025 a0001c0001t0013g0070 a0005c0044t0030g0025	2	94	0.0213	25	c.-16 others(46): Show c.-162-15493_-162-15492insCACTAGTATATCTATATACTATAT A	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	79384937	T T	TTAAAATA others(18): Show TTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02615.hp1 HG03516.hp2 others(2): Show HG01081.hp2 HG02615.hp1 HG03516.hp2 NA18522.hp1 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0011 others(2): Show a0001c0001 a0001c0003 a0001c0011 a0001c0040 a0011c0033	a0001c0001t0015 a0001c0003t0022 a0001c0011t0036 others(2): Show a0001c0001t0015 a0001c0003t0022 a0001c0011t0036 a0001c0040t0009 a0011c0033t0037	a0001c0001t0015g0086 a0001c0003t0022g0007 a0001c0011t0036g0045 others(2): Show a0001c0001t0015g0086 a0001c0003t0022g0007 a0001c0011t0036g0045 a0001c0040t0009g0016 a0011c0033t0037g0039	5	94	0.0532	25	c.-32 others(46): Show c.-321+55547_-321+55571dupTTTTATTTTATTTTATTTTATTTT A	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	1/33			chr11	TogoVar
TENT2_chr5_79607441_79693246	79688942	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	344	0.0029	25	c.36 others(36): Show c.3669_*3670insAAAAAAAAAAAAAAAAAAAAAAAAA	TENT2	ENSG00000164329.15	transcript	ENST00000453514.6	protein_coding		697		chr5	TogoVar
TENT4A_chr5_6708432_6762044	6714735	G G	GGGCGGGG others(18): Show GGGCGGGGCCCATGGTCCTGGCCGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	388	0.0026	25	c.716 others(38): Show c.716+37_716+38insGCGGGGCCCATGGTCCTGGCCGGCG	TENT4A	ENSG00000112941.14	transcript	ENST00000230859.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENT5A_chr6_81740730_81757681	81741064	A A	ATTATATA others(18): Show ATTATATATTATATATGTGTATCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02572.hp1 HG02622.hp1 others(16): Show HG00741.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp2 HG03540.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18983.hp1 NA18987.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0004 a0003c0003t0004 a0004c0004t0004 a0001c0001t0004 a0003c0003t0004 a0004c0004t0004	a0001c0001t0004g0013 a0001c0001t0004g0085 a0003c0003t0004g0012 others(1): Show a0001c0001t0004g0013 a0001c0001t0004g0085 a0003c0003t0004g0012 a0004c0004t0004g0049	19	446	0.0426	25	c.86 others(36): Show c.8630_*8631insCATGATACACATATATAATATATAA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4665		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81755094	G G	GGAAGAGA others(18): Show GGAAGAGAAGAGTAAAGAAGAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 NA18978.hp2 NA19067.hp1 others(1): Show HG02056.hp1 NA18978.hp2 NA19067.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0013 a0001c0001t0017	a0001c0001t0013g0034 a0001c0001t0017g0035 a0001c0001t0013g0034 a0001c0001t0017g0035	4	446	0.0090	25	c.-27 others(36): Show c.-2702_-2701insTCTTTTCTTCTTTACTCTTCTCTTC	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		2414		chr6	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACAACCG others(18): Show CACAACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	392	0.0026	25	c.228 others(42): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTTGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(18): Show CACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02004.hp1 HG02293.hp1 others(1): Show HG00408.hp2 HG02004.hp1 HG02293.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0227 others(1): Show a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0227 a0001c0002t0001g0038	4	392	0.0102	25	c.228 others(42): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACTG others(18): Show CACGACTGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	392	0.0026	25	c.228 others(42): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCAGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272982	G G	GACCGCCA others(18): Show GACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01975.hp1 HG03239.hp2 others(3): Show HG00733.hp1 HG01975.hp1 HG03239.hp2 HG03491.hp2 NA18994.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0349 a0001c0001t0005g0169 a0001c0002t0001g0016 others(3): Show a0001c0001t0002g0349 a0001c0001t0005g0169 a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0066 a0001c0002t0001g0082	6	392	0.0153	25	c.228 others(42): Show c.2287-703_2287-702insTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273056	C C	CACGACCG others(18): Show CACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01981.hp2 HG02735.hp1 others(11): Show HG00408.hp2 HG01981.hp2 HG02735.hp1 HG02896.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03834.hp1 NA19060.hp2 NA19063.hp1 NA19084.hp1 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0166 others(10): Show a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0227 a0001c0002t0001g0001 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0095 a0001c0003t0001g0210 a0001c0003t0001g0252	14	392	0.0357	25	c.228 others(42): Show c.2287-777_2287-776insTGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273451	C C	CACGACCG others(18): Show CACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02293.hp2 NA18985.hp1 others(1): Show HG01192.hp2 HG02293.hp2 NA18985.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0288 a0001c0001t0001g0332 a0001c0001t0001g0334 others(1): Show a0001c0001t0001g0288 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0003t0001g0335	4	392	0.0102	25	c.228 others(44): Show c.2287-1172_2287-1171insTGTGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273451	C C	CACGACTG others(18): Show CACGACTGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	392	0.0026	25	c.228 others(44): Show c.2287-1172_2287-1171insTGTGGTGACTGTGGATGGCAGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACCGCCA others(18): Show GACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	392	0.0026	25	c.228 others(44): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACTGCCA others(18): Show GACTGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18999.hp1 NA19054.hp1 NA18955.hp1 NA18999.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246	3	392	0.0077	25	c.228 others(44): Show c.2287-1216_2287-1215insTGATGTGGTGACTGTGGATGGCAGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(18): Show GACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp2 HG02602.hp1 others(4): Show HG02056.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG03540.hp1 HG03834.hp1 HG04228.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0001 a0004c0009t0001	a0001c0001t0001g0115 a0001c0001t0002g0347 a0001c0002t0001g0037 others(4): Show a0001c0001t0001g0115 a0001c0001t0002g0347 a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0078 a0001c0011t0001g0096 a0004c0009t0001g0007	7	392	0.0179	25	c.228 others(44): Show c.2287-1361_2287-1360insTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACTGCCA others(18): Show GACTGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	392	0.0026	25	c.228 others(44): Show c.2287-1361_2287-1360insTGATGTGGTGACTGTGGATGGCAGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TESK1_chr9_35600262_35615033	35603963	A A	ACTCAGCC others(18): Show ACTCAGCCTCGCTTCCTCGAGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG06807.hp2 HG02257.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	388	0.0052	25	c.-16 others(36): Show c.-1657_-1656insCTCAGCCTCGCTTCCTCGAGGAGCT	TESK1	ENSG00000107140.17	transcript	ENST00000336395.6	protein_coding		1298		chr9	TogoVar
TESK2_chr1_45338883_45496163	45354815	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19240.hp1 HG02055.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0075 a0001c0001t0007g0135 a0001c0001t0002g0075 a0001c0001t0007g0135	2	286	0.0070	25	c.540 others(40): Show c.540+487_540+488insATATATATATATATATATATTTTTT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	5/10			chr1	TogoVar
TESK2_chr1_45338883_45496163	45452032	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG02572.hp2 HG01167.hp2 HG01891.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0002t0004 a0001c0001t0004 a0001c0001t0007 a0001c0002t0004	a0001c0001t0004g0273 a0001c0001t0007g0137 a0001c0002t0004g0272 a0001c0001t0004g0273 a0001c0001t0007g0137 a0001c0002t0004g0272	3	286	0.0105	25	c.222 others(42): Show c.222+5531_222+5532insTTTTTTTTTTTTTTTTTTTTTTTTT	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	2/10			chr1	TogoVar
TES_chr7_116205539_116263783	116229033	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	386	0.0026	25	c.28- others(40): Show c.28-5500_28-5499insTATATATATATATATATATATATAA	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TET1_chr10_68555337_68699487	68597030	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	282	0.0036	25	c.191 others(44): Show c.1915-3930_1915-3929insTTTTTTTTTTTTTTTTTTTTTTTTT	TET1	ENSG00000138336.9	transcript	ENST00000373644.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
TET2_chr4_105141876_105284803	105276838	T T	TCCCCCCC others(18): Show TCCCCCCCCCCCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0050 a0005c0005t0050	a0005c0005t0050g0054 a0005c0005t0050g0054	1	348	0.0029	25	c.33 others(34): Show c.330_*331insCCCCCCCCCCCCCCCCCCCCCCCCC	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	11/11	331	INFO_REALIGN_3_PRIME	chr4	TogoVar
TET2_chr4_105141876_105284803	105278203	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0024 a0001c0001t0075g0024	1	348	0.0029	25	c.16 others(36): Show c.1684_*1685insATATATATATATATATATATATATA	TET2	ENSG00000168769.14	transcript	ENST00000380013.9	protein_coding	11/11	1685		chr4	TogoVar
TET3_chr2_73979910_74113176	73992301	T T	TTTTCTTT others(18): Show TTTTCTTTTTTTTTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 HG01517.hp2 others(6): Show HG00423.hp2 HG01106.hp2 HG01517.hp2 HG02055.hp1 HG02055.hp2 NA18943.hp2 NA18975.hp1 NA19000.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 others(3): Show a0001c0001t0006 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006	a0001c0001t0006g0219 a0001c0001t0006g0231 a0001c0001t0006g0247 others(6): Show a0001c0001t0006g0219 a0001c0001t0006g0231 a0001c0001t0006g0247 a0001c0001t0021g0191 a0001c0002t0001g0135 a0001c0002t0003g0197 a0001c0002t0003g0224 a0001c0002t0004g0130 a0001c0002t0006g0195	9	252	0.0357	25	c.303 others(42): Show c.303+5610_303+5611insCTTTTTTTTCTTTCTTTTTTTTTTT	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX11_chrX_70523940_70913711	70539038	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0079 a0004c0005t0001g0079	1	229	0.0044	25	c.252 others(44): Show c.2521-9040_2521-9039insATATATATATATATATATATATATA	TEX11	ENSG00000120498.14	transcript	ENST00000374333.7	protein_coding	28/29			chrX	TogoVar
TEX13A_chrX_105213929_105225694	105225561	A A	ATCTACCG others(18): Show ATCTACCGATTCCCAACCCAACCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	300	0.0033	25	c.-50 others(36): Show c.-5000_-4999insATGGGTTGGGTTGGGAATCGGTAGA	TEX13A	ENSG00000268629.8	transcript	ENST00000600991.6	protein_coding		4868		chrX	TogoVar
TEX26_chr13_30927656_30980500	30974131	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	414	0.0024	25	c.809 others(40): Show c.809-714_809-713insATATATATATATATATATATATATA	TEX26	ENSG00000175664.10	transcript	ENST00000380473.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX2_chr17_64142227_64268260	64219508	C C	CAAATAAA others(18): Show CAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0217 a0001c0004t0001g0217	1	224	0.0045	25	c.-25 others(42): Show c.-25-5291_-25-5267dupTATTTTATTTTATTTTATTTTATTT	TEX2	ENSG00000136478.9	transcript	ENST00000584379.6	protein_coding	1/11			chr17	TogoVar
TEX37_chr2_88519649_88534585	88525522	G G	GAGGAGTG others(18): Show GAGGAGTGGGCTAAGAAAGCTGGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	402	0.0025	25	c.-10 others(39): Show c.-10-110_-10-86dupGAGTGGGCTAAGAAAGCTGGGGCAG	TEX37	ENSG00000172073.4	transcript	ENST00000303254.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX45_chr19_7492548_7513450	7503393	G G	GATACTCA others(18): Show GATACTCAGTCCTGGAAAAAGATGCA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	436	0.0023	25	c.578 others(40): Show c.578-725_578-701dupACTCAGTCCTGGAAAAAGATGCAAT	TEX45	ENSG00000198723.11	transcript	ENST00000361664.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
TEX50_chr1_173630338_173642130	173638524	G G	GGAACCAG others(18): Show GGAACCAGGAGTGCTAGAAACCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	25	c.14 others(36): Show c.1488_*1489insGAACCAGGAGTGCTAGAAACCTCCA	TEX50	ENSG00000232113.3	transcript	ENST00000417563.3	protein_coding		1395		chr1	TogoVar
TEX9_chr15_56360426_56435154	56413212	A A	ATTAAATA others(18): Show ATTAAATAATTTAATTTATTTAATAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	380	0.0026	25	c.963 others(40): Show c.963+800_963+824dupACTTAAATAATTTAATTTATTTAAT	TEX9	ENSG00000151575.15	transcript	ENST00000696102.1	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
TFB2M_chr1_246535561_246571261	246543801	A A	ATATAAAT others(18): Show ATATAAATATAAAAATTTTATATTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG02109.hp1 others(5): Show HG00735.hp1 HG01175.hp1 HG02109.hp1 HG02280.hp2 HG02630.hp1 HG03098.hp2 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0069 a0001c0003t0002g0188 others(2): Show a0001c0003t0002g0008 a0001c0003t0002g0069 a0001c0003t0002g0188 a0001c0003t0002g0192 a0001c0003t0002g0193	8	446	0.0179	25	c.101 others(42): Show c.1019+695_1019+719dupAAAATATAAAATTTTTATATTTATA	TFB2M	ENSG00000162851.8	transcript	ENST00000366514.5	protein_coding	7/7			chr1	TogoVar
TFCP2L1_chr2_121211587_121290202	121269918	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 HG01243.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0026 a0001c0001t0007g0027	2	378	0.0053	25	c.214 others(44): Show c.214+11201_214+11202insATATATATTTTTTTTTTTTTTTTTT	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding	2/14			chr2	TogoVar
TFCP2L1_chr2_121211587_121290202	121287677	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00738.hp2 HG02486.hp2 others(10): Show HG00673.hp1 HG00738.hp2 HG02486.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp1 NA18977.hp1 NA19005.hp1 NA19083.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0003 a0001c0003t0006 a0001c0003t0045	a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0090 others(10): Show a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0013g0087 a0001c0002t0003g0023 a0001c0002t0003g0113 a0001c0002t0003g0169 a0001c0002t0003g0174 a0001c0003t0006g0092 a0001c0003t0045g0107	13	378	0.0344	25	c.-25 others(36): Show c.-2569_-2568insAAAAAAAAAAAAAAAAAAAAAAAAA	TFCP2L1	ENSG00000115112.8	transcript	ENST00000263707.6	protein_coding		2476		chr2	TogoVar
TFDP2_chr3_141939428_142154544	141977107	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0034 a0001c0001t0027g0034	1	252	0.0040	25	c.519 others(42): Show c.519+1412_519+1413insTATATATATATATATATATATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	7/12			chr3	TogoVar
TFEC_chr7_115930152_116035763	115944013	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 NA18978.hp1 others(3): Show HG01175.hp1 HG01243.hp2 NA18978.hp1 NA18999.hp2 NA19003.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0001g0366 a0001c0001t0002g0194 others(3): Show a0001c0001t0001g0059 a0001c0001t0001g0366 a0001c0001t0002g0194 a0001c0001t0002g0222 a0001c0001t0002g0231 a0001c0001t0002g0233	6	394	0.0152	25	c.516 others(42): Show c.516-1998_516-1974dupAAAAAAAAAAAAAAAAAAAAAAAAA	TFEC	ENSG00000105967.16	transcript	ENST00000265440.12	protein_coding	6/7			chr7	TogoVar
TFF3_chr21_42306667_42320409	42317300	A A	ATCCCTGG others(18): Show ATCCCTGGGGGGATCTGGGTGAGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	25	c.-19 others(36): Show c.-1927_-1926insGATCTCACCCAGATCCCCCCAGGGA	TFF3	ENSG00000160180.17	transcript	ENST00000518498.3	protein_coding		1892		chr21	TogoVar
TFPI_chr2_187459230_187559435	187557900	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02132.hp2 HG02148.hp1 others(7): Show HG02040.hp2 HG02132.hp2 HG02148.hp1 HG02293.hp1 HG03942.hp1 NA18942.hp1 NA18950.hp2 NA18998.hp2 NA19055.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0263 others(7): Show a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0263 a0001c0001t0002g0240 a0001c0001t0002g0254 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0284 a0001c0001t0003g0001 a0001c0001t0003g0121	10	344	0.0291	25	c.-37 others(36): Show c.-3728_-3704dupATTTTATTTTATTTTATTTTATTTT	TFPI	ENSG00000003436.16	transcript	ENST00000233156.9	protein_coding		3466		chr2	TogoVar
TF_chr3_133741393_133801641	133771743	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp2 HG02976.hp1 HG03453.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0022 a0005c0011t0022	a0005c0011t0022g0028 a0005c0011t0022g0028	2	402	0.0050	25	c.168 others(44): Show c.1687+1194_1687+1195insAAAAAAAAAAAAAAAAAAAAAAAAA	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
TGFBRAP1_chr2_105259414_105334735	105290435	A A	ATGAATTC others(18): Show ATGAATTCTTCAGATATTAGAGAAAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	380	0.0026	25	c.103 others(44): Show c.1038+5920_1038+5921insATTTCTCTAATATCTGAAGAATTCA	TGFBRAP1	ENSG00000135966.14	transcript	ENST00000393359.7	protein_coding	4/11			chr2	TogoVar
TGM2_chr20_38122385_38170270	38149678	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01069.hp1 others(7): Show HG00609.hp1 HG00639.hp2 HG01069.hp1 HG02083.hp2 HG02280.hp2 NA18612.hp1 NA18939.hp2 NA18950.hp2 NA18971.hp2 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018	a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0002g0034 others(7): Show a0001c0002t0001g0056 a0001c0002t0001g0062 a0001c0002t0002g0034 a0001c0002t0002g0059 a0001c0002t0002g0061 a0001c0002t0002g0194 a0001c0002t0002g0250 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0018g0060	10	360	0.0278	25	c.552 others(42): Show c.552+1260_552+1261insTTTTTTTTTTTTTTTTTTTTTTTTT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding	4/12			chr20	TogoVar
TGS1_chr8_55768446_55831445	55801582	C C	CCTTTTTT others(18): Show CCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0316 a0003c0003t0005g0316	1	370	0.0027	25	c.185 others(42): Show c.1850-875_1850-874insCTTTTTTTTTTTTTTTTTTTTTTTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	8/12			chr8	TogoVar
THBS2_chr6_169210785_169258846	169218265	A A	ATGGGTGG others(18): Show ATGGGTGGATGGATGGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0251 a0001c0004t0030g0251	1	396	0.0025	25	c.351 others(42): Show c.3512-437_3512-436insCCCACCCACCCCATCCATCCACCCA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	21/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242669	C C	CTCCCACC others(18): Show CTCCCACCTTCCCACCACTCCCACCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	396	0.0025	25	c.695 others(40): Show c.695-712_695-711insAGGTGGGAGTGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243063	A A	ACTCCCAC others(18): Show ACTCCCACCTTCCCACCTTCCCACCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	396	0.0025	25	c.695 others(42): Show c.695-1106_695-1105insCGGTGGGAAGGTGGGAAGGTGGGAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169243114	C C	CTCCCACC others(18): Show CTCCCACCTTCCCACCACTCCTACCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02559.hp1 others(3): Show HG01891.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02818.hp1 HG02886.hp2	a0001 a0004 a0001 a0004	a0001c0017 a0004c0020 a0004c0029 others(1): Show a0001c0017 a0004c0020 a0004c0029 a0004c0030	a0001c0017t0002 a0004c0020t0001 a0004c0029t0002 others(1): Show a0001c0017t0002 a0004c0020t0001 a0004c0029t0002 a0004c0030t0003	a0001c0017t0002g0039 a0001c0017t0002g0040 a0004c0020t0001g0299 others(3): Show a0001c0017t0002g0039 a0001c0017t0002g0040 a0004c0020t0001g0299 a0004c0020t0001g0301 a0004c0029t0002g0300 a0004c0030t0003g0298	6	396	0.0152	25	c.695 others(42): Show c.695-1157_695-1156insAGGTAGGAGTGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS3_chr1_155190588_155212897	155190864	T T	TCCGGGGG others(18): Show TCCGGGGGCCGAGGTGACACCGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	25	c.49 others(36): Show c.4976_*4977insCCCACGGTGTCACCTCGGCCCCCGG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4723		chr1	TogoVar

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Search Results (Total: 8644 hits)