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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC7A11_chr4_138159097_138247349	138237737	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0137 a0001c0002t0003g0137	1	364	0.0028	39	c.278 others(56): Show c.278-1287_278-1286insAAAAAAAAAAAAATATATATATATATAT ATATATATATA	SLC7A11	ENSG00000151012.13	transcript	ENST00000280612.9	protein_coding	1/11			chr4	TogoVar
SLC7A1_chr13_29504414_29600688	29555357	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0230 a0001c0001t0018g0230	1	330	0.0030	39	c.-11 others(58): Show c.-114-1498_-114-1497insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558532	A A	AGGGGGAG others(32): Show AGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0172 a0001c0008t0006g0172	1	330	0.0030	39	c.-11 others(58): Show c.-114-4673_-114-4672insATTCACATTCACTCCCCCCTCACTCA CATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A8_chr14_23120295_23188660	23138053	A A	AGGAGAGG others(32): Show AGGAGAGGTTACCACTCCCCGACCCCTCAGCTCCCACTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0291 a0001c0001t0004g0291	1	392	0.0026	39	c.913 others(52): Show c.913-30_913-29insAAAGTGGGAGCTGAGGGGTCGGGGAGTGGTAA CCTCTCC	SLC7A8	ENSG00000092068.21	transcript	ENST00000316902.12	protein_coding	6/10			chr14	TogoVar
SLC9A3_chr5_465456_529449	505725	G G	GGTGAGAG others(32): Show GGTGAGAGTGACTGTGGGGGGGTGGGGAGTGACCATGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG01243.hp1 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0008	a0001c0001t0001g0137 a0001c0003t0008g0152 a0001c0001t0001g0137 a0001c0003t0008g0152	2	218	0.0092	39	c.212 others(58): Show c.212-13655_212-13654insTTCCATGGTCACTCCCCACCCCCCCA CAGTCACTCTCAC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49884289	G G	GACACACA others(32): Show GACACACACGACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0072 a0001c0002t0029g0072	1	360	0.0028	39	c.149 others(56): Show c.1491+231_1491+232insGACACACACACACACACACACACACACA CACACACACAC	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A9_chr3_143260222_143853468	143449592	T T	TATAATAA others(32): Show TATAATAATTATATAATTATATAAAATATAATTATATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0020 a0001c0010t0020	a0001c0010t0020g0034 a0001c0010t0020g0034	1	108	0.0093	39	c.146 others(60): Show c.1469+17444_1469+17445insTTTATATAATTATATTTTATATAA TTATATAATTATTAT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	91971394	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG01257.hp1 HG01346.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0001 a0004c0008t0001 a0001c0002t0001 a0004c0008t0001	a0001c0002t0001g0098 a0004c0008t0001g0127 a0001c0002t0001g0098 a0004c0008t0001g0127	2	190	0.0105	39	c.646 others(58): Show c.646+54952_646+54953insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO3A1_chr15_91848708_92170903	92016254	T T	TAGATAGA others(32): Show TAGATAGATGATAGATAGATTGATTGATTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0180 a0001c0002t0053g0180	1	190	0.0053	39	c.647 others(58): Show c.647-78627_647-78626insAGATAGATGATAGATAGATTGATTGA TTAGATAGATAGA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLCO4A1_chr20_62637503_62677293	62666115	C C	CCCCGCCC others(32): Show CCCCGCCCCCCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp2 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0086 a0001c0001t0002g0049 a0001c0001t0002g0086	2	432	0.0046	39	c.127 others(56): Show c.1277-263_1277-262insCGCCCCCCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCC	SLCO4A1	ENSG00000101187.16	transcript	ENST00000217159.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLF2_chr10_100907963_100970134	100967812	G G	GCCCCCCC others(32): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	330	0.0030	39	c.59 others(50): Show c.5900_*5901insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CACCC	SLF2	ENSG00000119906.13	transcript	ENST00000238961.9	protein_coding		2679		chr10	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(32): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03017.hp1 HG02083.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0053 a0001c0001t0002g0029 a0001c0001t0002g0053	2	310	0.0065	39	c.150 others(58): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258288	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01346.hp1 HG01934.hp1 others(13): Show HG00673.hp2 HG01346.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02148.hp2 HG02273.hp1 HG03098.hp2 NA18998.hp1 NA19004.hp2 NA19011.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024	16	398	0.0402	39	c.-37 others(50): Show c.-3746_-3745insATCTATCTATCTATCTATCTATCTATCTATCTAT CTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3725		chr20	TogoVar
SLPI_chr20_45247239_45259564	45258292	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	398	0.0025	39	c.-37 others(50): Show c.-3750_-3749insATCTATCTATCTATCTATCTATCTATCTATCTAT CTATC	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3729		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	386	0.0026	39	c.299 others(58): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLURP1_chr8_142735949_142747406	142740551	G G	GCCCAGGT others(32): Show GCCCAGGTGCACACACCCAGGAAGACCCCTTGGGCTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	39	c.59 others(48): Show c.591_*592insGCCCAGCCCAAGGGGTCTTCCTGGGTGTGTGCACCT GGG	SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding		397		chr8	TogoVar
SMAD2_chr18_47803957_47935659	47850216	A A	ATATGTAT others(32): Show ATATGTATAATATATATTATATATTATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0180 a0001c0001t0180	a0001c0001t0180g0067 a0001c0001t0180g0067	1	310	0.0032	39	c.784 others(56): Show c.784+1019_784+1057dupATATATATAATATATAATATATAATATA TATTATACATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850282	A A	ATATATAT others(32): Show ATATATATTATATATATTATGTATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp2 NA18960.hp1 others(5): Show HG03942.hp2 HG04115.hp2 NA18960.hp1 NA18986.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0215 a0001c0001t0233 others(3): Show a0001c0001t0010 a0001c0001t0215 a0001c0001t0233 a0001c0001t0234 a0001c0001t0235 a0001c0001t0246	a0001c0001t0010g0124 a0001c0001t0010g0145 a0001c0001t0010g0162 others(5): Show a0001c0001t0010g0124 a0001c0001t0010g0145 a0001c0001t0010g0162 a0001c0001t0215g0144 a0001c0001t0233g0168 a0001c0001t0234g0172 a0001c0001t0235g0173 a0001c0001t0246g0126	8	310	0.0258	39	c.784 others(54): Show c.784+991_784+992insATATATAATATATATTATACATAATATATA TAATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850481	T T	TTATATAT others(32): Show TTATATATAACATATAATGTATAATATATGTTATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0214 a0001c0001t0087g0214	1	310	0.0032	39	c.784 others(54): Show c.784+792_784+793insTTATATATAACATATATTATACATTATATG TTATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67183000	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	310	0.0032	39	c.871 others(56): Show c.871+1547_871+1548insTATATATATATATATATATATATATATA TATATATATAT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8			chr15	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	213	0.0047	39	c.242 others(56): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02622.hp1 HG02886.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0017g0107 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0017g0107	3	213	0.0141	39	c.125 others(56): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(32): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	412	0.0024	39	c.-15 others(58): Show c.-154+7488_-154+7489insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18827507	A A	ATTTTTAT others(32): Show ATTTTTATATATCTTTGGTATAAATATACCAAAATATATT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0287 a0001c0002t0002g0287	1	300	0.0033	39	c.974 others(56): Show c.9741+485_9741+523dupAATATATTTTGGTATATTTATACCAAAG ATATATAAAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18827546	T T	TTTTTTAT others(32): Show TTTTTTATATATCTTTGGTATAAATATACCAAAATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01175.hp2 HG00642.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0003 a0001c0001t0001 a0001c0010t0003	a0001c0001t0001g0096 a0001c0010t0003g0194 a0001c0001t0001g0096 a0001c0010t0003g0194	2	300	0.0067	39	c.974 others(56): Show c.9741+446_9741+484dupTATATATTTTGGTATATTTATACCAAAG ATATATAAAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18827558	C C	CTTTGGTA others(32): Show CTTTGGTATAAATATACCAAAATATATATTTTTATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01952.hp2 HG01981.hp1 others(6): Show HG00280.hp2 HG01952.hp2 HG01981.hp1 HG02109.hp2 HG03139.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp2 NA20129.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0007c0034	a0001c0001t0012 a0001c0001t0015 a0001c0002t0002 others(2): Show a0001c0001t0012 a0001c0001t0015 a0001c0002t0002 a0001c0003t0009 a0007c0034t0001	a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0015g0004 others(6): Show a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0015g0004 a0001c0002t0002g0260 a0001c0002t0002g0268 a0001c0003t0009g0297 a0001c0003t0009g0298 a0001c0003t0009g0299 a0007c0034t0001g0106	9	300	0.0300	39	c.974 others(56): Show c.9741+472_9741+473insTATATATAAAAATATATATTTTGGTATA TTTATACCAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	55/62			chr16	TogoVar
SMG9_chr19_43722983_43759962	43723493	G G	GCAGCACA others(32): Show GCAGCACAGGGATTGGTGAGAAGGACTTAATGTGGCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0187 a0001c0001t0027g0187	1	320	0.0031	39	c.81 others(50): Show c.8102_*8103insAAGAGCCACATTAAGTCCTTCTCACCAATCCCTG TGCTG	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		4489		chr19	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA19080.hp1 HG00408.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0061 a0001c0001t0001g0002 a0001c0001t0001g0061	2	406	0.0049	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATATATATTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATATATTTTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATATTTTTTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(32): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	406	0.0025	39	c.16 others(50): Show c.1695_*1696insTATATATATATATATATATTTTTTTTTTTTTTTT TTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMYD1_chr2_88062825_88118384	88065219	T T	TCCCCTCC others(32): Show TCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	338	0.0030	39	c.-26 others(50): Show c.-2646_-2645insCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTC	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2605		chr2	TogoVar
SNRPA1_chr15_101276510_101300248	101290094	A A	AAGGTAAA others(32): Show AAGGTAAACCTCAAGGTAAACAGCAAGGTAAACCTCAAGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	442	0.0023	39	c.309 others(56): Show c.309+1867_309+1868insCCTTGAGGTTTACCTTGCTGTTTACCTT GAGGTTTACCT	SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	3/8			chr15	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	106	0.0094	39	c.-10 others(60): Show c.-103+26379_-103+26380insTCTTTTTTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	50701579	T T	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01192.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0033 a0001c0001t0016 a0001c0001t0033	a0001c0001t0016g0003 a0001c0001t0033g0056 a0001c0001t0016g0003 a0001c0001t0033g0056	2	106	0.0189	39	c.103 others(58): Show c.1039-3015_1039-3014insTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTC	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	965110	A A	ACCCCAGT others(32): Show ACCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0132 a0009c0013t0001g0132	1	190	0.0053	39	c.72+ others(56): Show c.72+14098_72+14136dupTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965362	T T	TCCCCAAT others(32): Show TCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0132 a0009c0013t0001g0132	1	190	0.0053	39	c.72+ others(56): Show c.72+14298_72+14336dupCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTTGGACCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1362074	G G	GGCTGAGC others(32): Show GGCTGAGCATTTCAGTAGAACTTCCATGAAGGTCACCAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0001 a0009c0029t0001	a0009c0029t0001g0152 a0009c0029t0001g0152	1	190	0.0053	39	c.148 others(58): Show c.1489-5240_1489-5239insGGTCACCAACGCTGAGCATTTCAGTA GAACTTCCATGAA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX12_chrX_71054247_71073334	71071670	T T	TATATATA others(32): Show TATATATAAATATATTTATATATAAATATATAATATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02809.hp2 others(3): Show HG01884.hp2 HG02145.hp1 HG02809.hp2 HG03041.hp1 HG03453.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0005g0023 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0061 a0001c0001t0005g0023 a0001c0001t0005g0074 a0001c0001t0009g0053	6	309	0.0194	39	c.-34 others(50): Show c.-3403_-3365dupCTATATATTATATATTTATATATAAATATATTTA TATAT	SNX12	ENSG00000147164.12	transcript	ENST00000374274.8	protein_coding		3337		chrX	TogoVar
SNX25_chr4_185204598_185368966	185258633	A A	AAAATTTA others(32): Show AAAATTTAGGACATGGTCACCATACCTAAACGTTCTAGTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	276	0.0036	39	c.515 others(54): Show c.515-213_515-175dupAATTTAGGACATGGTCACCATACCTAAACG TTCTAGTTA	SNX25	ENSG00000109762.17	transcript	ENST00000652585.2	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SNX27_chr1_151607050_151704080	151681235	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18992.hp1 NA18960.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0059 a0001c0001t0053 a0001c0001t0059	a0001c0001t0053g0230 a0001c0001t0059g0206 a0001c0001t0053g0230 a0001c0001t0059g0206	2	366	0.0055	39	c.115 others(58): Show c.1150-2097_1150-2096insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	SNX27	ENSG00000143376.14	transcript	ENST00000458013.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNX29_chr16_11971734_12579287	12476383	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0105 a0001c0003t0057g0105	1	176	0.0057	39	c.203 others(58): Show c.2038-1336_2038-1335insTATATATATATATATATATATATATA CATATATATATAT	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	18/20			chr16	TogoVar
SNX6_chr14_34556093_34635148	34557496	A A	ATTCTTCT others(32): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0277 a0001c0001t0010g0278 a0001c0001t0010g0277 a0001c0001t0010g0278	2	322	0.0062	39	c.56 others(50): Show c.5625_*5626insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SNX8_chr7_2246770_2319441	2260098	A A	ATAAGACC others(32): Show ATAAGACCCTTACTGTATTTTTTGCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	370	0.0027	39	c.916 others(56): Show c.916-2296_916-2295insAAAAAAAAAAAAAAAGCAAAAAATACAG TAAGGGTCTTA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	7/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157827515	A A	ATATATTA others(32): Show ATATATTATAGTTTATATAATATATAAACATATATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp1 HG02083.hp1 others(5): Show HG00438.hp1 HG01496.hp1 HG02083.hp1 HG02738.hp1 HG04115.hp1 NA18941.hp1 NA18999.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 others(5): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0013t0001g0105	8	302	0.0265	39	c.12+ others(54): Show c.12+4073_12+4074insTTATAGTTTATATAATATATAAACATATAT TATATTATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(32): Show GTTTTTTTGTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0054 a0002c0007t0007g0054	1	302	0.0033	39	c.12+ others(56): Show c.12+21148_12+21149insGTTTTTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(32): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18998.hp2 HG00408.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0028 a0002c0002t0002g0011 a0002c0002t0002g0028	2	302	0.0066	39	c.12+ others(56): Show c.12+21148_12+21149insGTTTTTTTTTTTTTTTTTTTTGTTTTTT TTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	302	0.0033	39	c.949 others(56): Show c.949+5616_949+5617insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19011.hp1 NA18975.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0051 a0002c0002t0002g0002 a0002c0002t0002g0051	2	302	0.0066	39	c.949 others(56): Show c.949+5616_949+5617insAAAAAAAAAAAAATATATATATATATAT ATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	302	0.0033	39	c.949 others(56): Show c.949+5616_949+5617insAAAAAAAAAAATATATATATATATATAT ATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

Search by Variant

Search

Search Results (Total: 3425 hits)