Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
SPAAR_chr9_35904490_35916686	35913764	T T	TAGTGTGT others(45): Show TAGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	52	c.30 others(63): Show c.3073_*3074insAGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2079		chr9	TogoVar
SPAG9_chr17_50957174_51125868	51076982	T T	TTATCTAG others(45): Show TTATCTAGCTATCTAGCTATCTAGCTATCTAGCTATCTAGCTAGCTAGCT ATC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	292	0.0034	52	c.424 others(69): Show c.424+2601_424+2602insGATAGCTAGCTAGCTAGATAGCTAGATA GCTAGATAGCTAGATAGCTAGATA	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077009	G G	GCTAGCTA others(45): Show GCTAGCTAGCTAGCTAGCTATCTATCTAGCTATCTAGCTATCTAGCTAGC TAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0138 a0003c0010t0002g0138	1	292	0.0034	52	c.424 others(69): Show c.424+2574_424+2575insATAGCTAGCTAGATAGCTAGATAGCTAG ATAGATAGCTAGCTAGCTAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077009	G G	GCTAGCTA others(45): Show GCTAGCTAGCTATCTAGCTATCTATCTAGCTATCTAGCTATCTAGCTAGC TAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02451.hp1 others(8): Show HG01106.hp2 HG02109.hp1 HG02451.hp1 HG02630.hp1 HG02818.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03209.hp1 NA19064.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0001t0001 a0001c0001t0002 a0001c0001t0025	a0001c0001t0001g0111 a0001c0001t0002g0134 a0001c0001t0002g0135 others(8): Show a0001c0001t0001g0111 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0167 a0001c0001t0025g0154	11	292	0.0377	52	c.424 others(69): Show c.424+2523_424+2574dupATAGCTAGCTAGATAGCTAGATAGCTAG ATAGATAGCTAGATAGCTAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPAG9_chr17_50957174_51125868	51077033	T T	TCTAGCTA others(45): Show TCTAGCTATCTAGCTATCTAGCTAGCTATCTAGCTAGCTATCTAGCTATC TAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	292	0.0034	52	c.424 others(69): Show c.424+2499_424+2550dupCTAGATAGCTAGATAGCTAGCTAGATAG CTAGCTAGATAGCTAGATAGCTAG	SPAG9	ENSG00000008294.22	transcript	ENST00000262013.12	protein_coding	2/29			chr17	TogoVar
SPATA13_chr13_24155720_24312069	24190347	A A	ATTATTAT others(45): Show ATTATTATATAACATATGATATATAATATATATTATTATATAACATATGA TAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0131 a0012c0022t0131	a0012c0022t0131g0003 a0012c0022t0131g0003	1	356	0.0028	52	c.-11 others(73): Show c.-112+29415_-112+29416insTTATTATATAACATATGATATATA ATATATATTATTATATAACATATGATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPATA13_chr13_24155720_24312069	24309283	T T	TTATATAT others(45): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT ATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0217 a0001c0003t0023g0217	1	356	0.0028	52	c.65 others(63): Show c.6510_*6511insTATATATATATATATATATATATATATATATATA TATATATATATATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding		2215		chr13	TogoVar
SPATA16_chr3_172884357_173146235	172960875	C C	CTCTTTCT others(45): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02717.hp1 NA18954.hp2 others(3): Show HG00642.hp1 HG02717.hp1 NA18954.hp2 NA18983.hp2 NA19081.hp1 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0004 a0002c0002 a0003c0003 others(1): Show a0001c0004 a0002c0002 a0003c0003 a0008c0017	a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0008c0017t0001	a0001c0004t0001g0038 a0001c0004t0001g0059 a0001c0004t0001g0073 others(3): Show a0001c0004t0001g0038 a0001c0004t0001g0059 a0001c0004t0001g0073 a0002c0002t0001g0007 a0003c0003t0001g0030 a0008c0017t0001g0082	6	200	0.0300	52	c.934 others(69): Show c.934-4052_934-4051insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA	SPATA16	ENSG00000144962.7	transcript	ENST00000351008.4	protein_coding	5/10			chr3	TogoVar
SPATA33_chr16_89652836_89675458	89664665	A A	AGGGCCCG others(45): Show AGGGCCCGACCTGATCAGGGAAGCCAGACAGTAAAAGTGTCAGAGGCTCT TTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02895.hp2 others(1): Show HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	4	422	0.0095	52	c.212 others(69): Show c.212-4574_212-4573insCTTTTGGGCCCGACCTGATCAGGGAAGC CAGACAGTAAAAGTGTCAGAGGCT	SPATA33	ENSG00000167523.15	transcript	ENST00000579310.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPATA6_chr1_48290373_48477204	48428813	A A	ATGTATAT others(45): Show ATGTATATATATGTGTGTATATATATGTGTATATATATGTGTGTATATAT ATG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0096 a0001c0001t0023g0096	1	322	0.0031	52	c.239 others(71): Show c.239-15663_239-15662insCATATATATACACACATATATATACA CATATATATACACACATATATATACA	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	3/12			chr1	TogoVar
SPC24_chr19_11140493_11160782	11147734	A A	AATTTTTA others(45): Show AATTTTTACAGGGTCCTGCTATGCACCATTTTATGTCCCTACCTACAGTG CAC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0062 a0003c0003t0062	a0003c0003t0062g0178 a0003c0003t0062g0178	1	438	0.0023	52	c.487 others(65): Show c.487+32_487+83dupGTGCACTGTAGGTAGGGACATAAAATGGTGCA TAGCAGGACCCTGTAAAAAT	SPC24	ENSG00000161888.12	transcript	ENST00000592540.6	protein_coding	4/4			chr19	TogoVar
SPDYE1_chr7_43992897_44015124	43994418	G G	GAAAGAAA others(45): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01192.hp2 HG01168.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0024 a0001c0001t0004g0003 a0001c0001t0004g0024	2	394	0.0051	52	c.-39 others(63): Show c.-3964_-3963insAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAGAA	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3478		chr7	TogoVar
SPG7_chr16_89503403_89562766	89536469	G G	GGGTGAGG others(45): Show GGGTGAGGCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCAGG TGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG02148.hp1 others(1): Show HG01074.hp1 HG01243.hp2 HG02148.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0006t0001g0057	4	358	0.0112	52	c.132 others(71): Show c.1324+3841_1324+3842insCGGGTGAGGCGGGCGAGGCGGGCGAG GCCAGGTGAGGCAGGTGAGGTGAGGC	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPG7_chr16_89503403_89562766	89536469	G G	GGGTGAGG others(45): Show GGGTGAGGCGGGTGAGGTCAGGTGAGGCAGGTGAGGTGAGGCGGGTGAGG TCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	358	0.0028	52	c.132 others(71): Show c.1324+3903_1324+3954dupCAGGTGAGGCAGGTGAGGTGAGGCGG GTGAGGTCAGGTGAGGCGGGTGAGGT	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPHKAP_chr2_227974955_228186687	228139910	T T	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0194 a0004c0004t0003g0194	1	322	0.0031	52	c.33- others(67): Show c.33-7826_33-7825insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	1/11			chr2	TogoVar
SPICE1_chr3_113437718_113520156	113480912	T T	TAAAGAAA others(45): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp2 HG03486.hp1 others(3): Show HG01884.hp2 HG02922.hp2 HG03486.hp1 HG03516.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0027 a0001c0010t0026	a0001c0001t0004g0186 a0001c0001t0006g0329 a0001c0001t0010g0238 others(3): Show a0001c0001t0004g0186 a0001c0001t0006g0329 a0001c0001t0010g0238 a0001c0001t0010g0241 a0001c0001t0027g0184 a0001c0010t0026g0320	6	364	0.0165	52	c.611 others(69): Show c.611+8032_611+8033insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPINK6_chr5_148198042_148220137	148209481	T T	TAGTTTCA others(45): Show TAGTTTCAAATAAGATAACTTGTGTCCACATGCAGGAAAGATTTGAAATT AGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	438	0.0023	52	c.81+ others(67): Show c.81+3426_81+3477dupTTTCAAATAAGATAACTTGTGTCCACATGC AGGAAAGATTTGAAATTAGGAG	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209954	A A	ATATGTAT others(45): Show ATATGTATACATACACACGTACGTGTGTATGTATACATACACACGTACGT ATG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp2 HG01256.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	438	0.0046	52	c.81+ others(67): Show c.81+3910_81+3911insCACGTACGTGTGTATGTATACATACACACG TACGTATGTATGTATACATACA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148209954	A A	ATATGTAT others(45): Show ATATGTATACATACATACGTACGTATGTATGTATACATACATACGTACGT ATG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp1 HG02129.hp1 others(10): Show HG01515.hp1 HG01943.hp1 HG02129.hp1 HG02155.hp1 HG04199.hp2 NA18612.hp1 NA18946.hp2 NA18959.hp2 NA18988.hp1 NA18992.hp2 NA18993.hp1 NA19007.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0079 a0002c0002t0001g0080 others(3): Show a0002c0002t0001g0008 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083	13	438	0.0297	52	c.82- others(67): Show c.82-3918_82-3917insCATACGTACGTATGTATGTATACATACATA CGTACGTATGTATGTATACATA	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK6_chr5_148198042_148220137	148210338	A A	ATATGTGT others(45): Show ATATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATAT ATG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp1 HG01515.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0079 a0002c0002t0001g0082	2	438	0.0046	52	c.82- others(67): Show c.82-3462_82-3411dupGTTTCTGCATACATATATATGTATGTGTTT CTGCATACATATATATGTATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATACA others(45): Show TATATACACACATATATATATATATATATATACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	458	0.0022	52	c.294 others(67): Show c.294-611_294-610insCACACATATATATATATATATATATACACA TATATATATATATACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATACA others(45): Show TATATACACATATATATATATATATATATACACACATATATATATATACA CAC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	458	0.0022	52	c.294 others(67): Show c.294-611_294-610insCACATATATATATATATATATATACACACA TATATATATATACACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATACA others(45): Show TATATACACATATATATATATATATATATACACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	458	0.0022	52	c.294 others(67): Show c.294-611_294-610insCACATATATATATATATATATATACACACA TATATATATATATACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATACA others(45): Show TATATACACATATATATATATATATATATATACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG00735.hp1 others(19): Show HG00280.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01256.hp1 HG01258.hp2 HG01515.hp2 HG02074.hp2 HG02129.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp1 HG03453.hp2 HG03704.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA19062.hp1 NA19078.hp2 NA19090.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0018 a0002c0002t0001g0035 others(3): Show a0002c0002t0001g0007 a0002c0002t0001g0018 a0002c0002t0001g0035 a0002c0002t0001g0092 a0002c0002t0001g0112 a0002c0002t0001g0115	22	458	0.0480	52	c.294 others(67): Show c.294-611_294-610insCACATATATATATATATATATATATACACA TATATATATATATACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(45): Show TATATATACACATATATATATATATATATACACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	458	0.0022	52	c.294 others(67): Show c.294-609_294-608insCACATATATATATATATATATACACACATA TATATATATATACACATATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(45): Show TATATATACACATATATATATATATATATATACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG01516.hp2 others(12): Show HG01099.hp1 HG01496.hp1 HG01516.hp2 HG02083.hp1 HG02896.hp1 HG03927.hp2 NA18955.hp2 NA18978.hp1 NA18980.hp2 NA18986.hp1 NA18999.hp2 NA19006.hp1 NA19054.hp1 NA19090.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0066 others(4): Show a0002c0002t0001g0015 a0002c0002t0001g0025 a0002c0002t0001g0066 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0119 a0002c0002t0006g0015	15	458	0.0328	52	c.294 others(67): Show c.294-609_294-608insCACATATATATATATATATATATACACATA TATATATATATACACATATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(45): Show TATATATATACACATATATATATATATATATACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	458	0.0022	52	c.294 others(67): Show c.294-607_294-606insCACATATATATATATATATATACACATATA TATATATATACACATATATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725013	T T	TATATATA others(45): Show TATATATATATACACATATATATATATATATACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0094 a0002c0002t0004g0094	1	458	0.0022	52	c.294 others(67): Show c.294-605_294-604insCACATATATATATATATATACACATATATA TATATATACACATATATATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725015	T T	TACACACA others(45): Show TACACACACATATATATATATATATATATACACATATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0086 a0003c0003t0001g0086	1	458	0.0022	52	c.294 others(67): Show c.294-613_294-612insCACACACATATATATATATATATATATACA CATATATATATATATATACACA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725015	T T	TATACACA others(45): Show TATACACACATATATATATATATATATATACACATATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01106.hp2 HG01257.hp1 others(4): Show HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01258.hp1 HG02698.hp1 HG03688.hp2 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	7	458	0.0153	52	c.294 others(67): Show c.294-611_294-610insCACACATATATATATATATATATATACACA TATATATATATATATACACATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPINT4_chr20_45717347_45730830	45725015	T T	TATATACA others(45): Show TATATACACATATATATATATATATATATATACACATATATATATATATA CAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	458	0.0022	52	c.294 others(67): Show c.294-609_294-608insCACATATATATATATATATATATATACACA TATATATATATATACACATATA	SPINT4	ENSG00000149651.4	transcript	ENST00000279058.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPNS3_chr17_4428940_4493204	4462454	C C	CACCCACC others(45): Show CACCCACCCATCCACCAATCCATCCATCCACCCACCCACCCACCCACCCA CCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0048 a0001c0012t0001g0048	1	362	0.0028	52	c.111 others(71): Show c.1113+9250_1113+9251insCCCACCCATCCACCAATCCATCCATC CACCCACCCACCCACCCACCCACCAA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPON1_chr11_13957723_14273133	14139709	A A	AATATATA others(45): Show AATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	224	0.0045	52	c.825 others(69): Show c.825+4157_825+4158insATATATATATATATATATATATATATAT ATATATATATATATATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATG TAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG03492.hp1 NA18960.hp1 others(1): Show HG00423.hp1 HG03492.hp1 NA18960.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0102 a0001c0001t0144 a0001c0001t0145 others(1): Show a0001c0001t0102 a0001c0001t0144 a0001c0001t0145 a0001c0002t0101	a0001c0001t0102g0209 a0001c0001t0144g0186 a0001c0001t0145g0190 others(1): Show a0001c0001t0102g0209 a0001c0001t0144g0186 a0001c0001t0145g0190 a0001c0002t0101g0024	4	231	0.0173	52	c.29 others(63): Show c.2906_*2907insATATATATATATATATATATATATATATATATAT ATATATGTAAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TTTATATA others(45): Show TTTATATATATATATATATATATATATATATATATATATATATATATATG TAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19009.hp1 NA19064.hp1 NA19009.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0086 a0001c0001t0085 a0001c0001t0086	a0001c0001t0085g0043 a0001c0001t0086g0090 a0001c0001t0085g0043 a0001c0001t0086g0090	2	231	0.0087	52	c.28 others(63): Show c.2898_*2899insTTATATATATATATATATATATATATATATATAT ATATATATATATATGTAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2899		chrX	TogoVar
SPSB1_chr1_9287894_9374532	9310073	C C	CCTGTGAT others(45): Show CCTGTGATGATGCCTCTGCACCTGCCGTGGGAAGGCCACAGTCTAGGGGC CAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0302 a0001c0003t0002g0302	1	370	0.0027	52	c.-15 others(73): Show c.-150+17042_-150+17043insTCTAGGGGCCATCTGTGATGATGC CTCTGCACCTGCCGTGGGAAGGCCACAG	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP19_chr5_112856287_112874788	112872117	G G	GCCTGTAG others(45): Show GCCTGTAGAGGAAGAGAACTAGTTTCTCTACCATACTGCAAAGCCTACTT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0003 a0001c0002t0014g0003	1	408	0.0025	52	c.45 others(63): Show c.4580_*4581insCCTGTAGAGGAAGAGAACTAGTTTCTCTACCATA CTGCAAAGCCTACTTCCA	SRP19	ENSG00000153037.15	transcript	ENST00000505459.6	protein_coding		2330		chr5	TogoVar
SRRD_chr22_26478877_26499658	26482901	A A	ATTGTTTC others(45): Show ATTGTTTCCTTTGCTTTTTTTTTTTTTTTCTTTTTATTTTTTTTTATTTA CTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	448	0.0022	52	c.-99 others(61): Show c.-990_-989insTTGTTTCCTTTGCTTTTTTTTTTTTTTTCTTTTTAT TTTTTTTTATTTACTT	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding		975		chr22	TogoVar
SRRM3_chr7_76196896_76292287	76266232	A A	AATATATA others(45): Show AATATATATAAATATTTATATATTTAATATATATAAATATTTATATATTT AAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03927.hp2 NA18906.hp1 HG02895.hp2 HG03927.hp2 NA18906.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0018 a0001c0001 a0010c0018	a0001c0001t0001 a0010c0018t0001 a0001c0001t0001 a0010c0018t0001	a0001c0001t0001g0127 a0001c0001t0001g0140 a0010c0018t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0140 a0010c0018t0001g0122	3	324	0.0093	52	c.830 others(67): Show c.830+795_830+796insATAAATATTTATATATTTAATATATATATA AATATTTATATATTTAATATAT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0007 a0003c0011t0002g0007	1	412	0.0024	52	c.138 others(69): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSU72_chr1_1536673_1579863	1543725	C C	CCTCTGTC others(45): Show CCTCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCC CCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG01884.hp1 HG02258.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0008 a0001c0001t0001 a0002c0003t0008	a0001c0001t0001g0167 a0002c0003t0008g0356 a0001c0001t0001g0167 a0002c0003t0008g0356	2	386	0.0052	52	c.483 others(67): Show c.483+143_483+144insAGGGGAGTGGCCGAGGCCGTGACAGTGGGG AGTGGCCGAGGCCGTGACAGAG	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding	4/4			chr1	TogoVar
ST3GAL1_chr8_133449848_133576887	133540920	C C	CACATATA others(45): Show CACATATATAGACATATATAGACATATATAGACATATATATAGACATATA TAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0054 a0002c0005t0003g0054	1	332	0.0030	52	c.-42 others(71): Show c.-429+4853_-429+4854insCTATATATGTCTATATATATGTCTAT ATATGTCTATATATGTCTATATATGT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76525795	A A	ATATATAT others(45): Show ATATATATATATATATACATATATATATATATACATATATATATATATAT ACG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	102	0.0098	52	c.624 others(73): Show c.624-101641_624-101640insCATATATATATATATACATATATA TATATATATACGTATATATATATATATA	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(45): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02258.hp2 HG03017.hp1 others(6): Show HG00621.hp2 HG02258.hp2 HG03017.hp1 HG03486.hp1 NA18939.hp1 NA18982.hp2 NA19010.hp1 NA19010.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 others(6): Show a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0067 a0001c0001t0003g0114	9	202	0.0446	52	c.262 others(71): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(45): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02451.hp1 HG02622.hp2 others(3): Show HG01978.hp1 HG02451.hp1 HG02622.hp2 HG02965.hp1 HG03453.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0002c0002t0003	a0001c0001t0002g0035 a0001c0001t0006g0081 a0001c0001t0013g0164 others(3): Show a0001c0001t0002g0035 a0001c0001t0006g0081 a0001c0001t0013g0164 a0001c0001t0013g0165 a0001c0001t0013g0167 a0002c0002t0003g0184	6	202	0.0297	52	c.262 others(71): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTGT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(45): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCT GTA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG02109.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0024 a0001c0001t0011 a0001c0001t0024	a0001c0001t0011g0171 a0001c0001t0024g0163 a0001c0001t0011g0171 a0001c0001t0024g0163	2	202	0.0099	52	c.262 others(71): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT GTCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(45): Show AAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGCAGGCAGGCA GGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0005g0183 a0001c0002t0005g0184	2	240	0.0083	52	c.394 others(69): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTGCCTGCCT GCCTTCCTTCCTTCCTTCCTTCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STARD13_chr13_33098137_33290755	33163686	T T	TATATATA others(45): Show TATATATATAACATATATATAAAACATATATATATATAACATATATATAA AAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03491.hp1 HG03492.hp1 others(2): Show HG01934.hp2 HG03491.hp1 HG03492.hp1 HG03831.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0002 a0002c0003t0003 a0001c0004t0002 a0002c0003t0003	a0001c0004t0002g0051 a0001c0004t0002g0244 a0001c0004t0002g0245 others(2): Show a0001c0004t0002g0051 a0001c0004t0002g0244 a0001c0004t0002g0245 a0002c0003t0003g0049 a0002c0003t0003g0095	5	302	0.0166	52	c.323 others(69): Show c.323+1650_323+1651insGTTTTATATATATGTTATATATATATAT GTTTTATATATATGTTATATATAT	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	3/13			chr13	TogoVar
STARD9_chr15_42570606_42725998	42712111	A A	AATATATA others(45): Show AATATATATAATATATATATTATATATTATATATTATATATATATTATAT ATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0023 a0023	a0023c0048 a0023c0048	a0023c0048t0002 a0023c0048t0002	a0023c0048t0002g0071 a0023c0048t0002g0071	1	210	0.0048	52	c.132 others(73): Show c.13285-4559_13285-4558insTAATATATATATTATATATTATAT ATTATATATATATTATATATTATATATA	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(45): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 HG01517.hp1 HG01106.hp1 HG01516.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0258 a0003c0003t0003g0005 a0003c0003t0003g0258	3	268	0.0112	52	c.210 others(69): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATATTTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar

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Search Results (Total: 10000 hits)