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
ST8SIA5_chr18_46662821_46762053	46726015	G G	GATATATA others(36): Show GATATATATATATATATATATATATATCCTGGATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0264 a0001c0001t0038g0264	1	362	0.0028	43	c.132 others(62): Show c.132-21352_132-21351insATATATATATATCCAGGATATATATA TATATATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46726015	G G	GATATATA others(36): Show GATATATATATATATATATATATCTATCCTGGATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0160 a0001c0001t0079g0160	1	362	0.0028	43	c.132 others(62): Show c.132-21352_132-21351insATATATATATATCCAGGATAGATATA TATATATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STARD7_chr2_96179859_96213827	96197067	A A	AAACTAAA others(36): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18971.hp2 NA19009.hp2 others(3): Show HG01109.hp1 NA18971.hp2 NA19009.hp2 NA19067.hp2 NA19087.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0194 a0001c0001t0003g0205 a0001c0001t0003g0211 others(3): Show a0001c0001t0003g0194 a0001c0001t0003g0205 a0001c0001t0003g0211 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0010g0042	6	358	0.0168	43	c.291 others(60): Show c.291-1519_291-1518insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197072	A A	AAACTAAA others(36): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01978.hp1 NA18940.hp2 others(5): Show HG01943.hp2 HG01978.hp1 NA18940.hp2 NA18962.hp1 NA18973.hp2 NA18999.hp1 NA19070.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0164 others(5): Show a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0164 a0001c0001t0003g0171 a0001c0001t0003g0201 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0025g0202	8	358	0.0224	43	c.291 others(60): Show c.291-1524_291-1523insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197077	A A	AAACTAAA others(36): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	358	0.0028	43	c.291 others(60): Show c.291-1529_291-1528insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0257 a0003c0003t0005g0257	1	268	0.0037	43	c.210 others(60): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(36): Show AAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02300.hp2 HG02895.hp1 HG02083.hp2 HG02300.hp2 HG02895.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0001 a0003c0003t0005 a0001c0001t0002 a0002c0002t0001 a0003c0003t0005	a0001c0001t0002g0132 a0002c0002t0001g0240 a0003c0003t0005g0262 a0001c0001t0002g0132 a0002c0002t0001g0240 a0003c0003t0005g0262	3	268	0.0112	43	c.210 others(60): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0250 a0003c0003t0003g0250	1	268	0.0037	43	c.210 others(60): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAT others(36): Show AAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	268	0.0037	43	c.782 others(58): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATATTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	384	0.0026	43	c.762 others(62): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	384	0.0026	43	c.762 others(62): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(36): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	384	0.0026	43	c.762 others(62): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK24_chr13_98440185_98582107	98580302	A A	ACGCACTC others(36): Show ACGCACTCTCAGCAGAGCTCAGAGAGGAACAGAAAACAAGAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0307 a0001c0001t0094g0307	1	322	0.0031	43	c.-35 others(54): Show c.-3517_-3516insAATTCTTGTTTTCTGTTCCTCTCTGAGCTCTGCT GAGAGTGCG	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding		3196		chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18998.hp1 HG03669.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0185 a0001c0001t0001g0190	2	404	0.0050	43	c.483 others(60): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK40_chr1_36334628_36390924	36345991	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0078 a0001c0005t0005g0078	1	350	0.0029	43	c.740 others(60): Show c.740-1728_740-1727insAAAAAAATATATATATATATATATATAT ATATATATATATATA	STK40	ENSG00000196182.11	transcript	ENST00000373132.4	protein_coding	7/10			chr1	TogoVar
STOX2_chr4_183900307_184028526	183932303	G G	GTGTATAC others(36): Show GTGTATACATACATGTATATGTATGTATACATACAGTATATGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0310 a0001c0001t0077g0310	1	318	0.0031	43	c.166 others(62): Show c.166+25359_166+25360insTGTATATGTATGTATACATACAGTAT ATGTATGTATACATACA	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STX6_chr1_180967725_181027870	181023050	C C	CTCTCTCT others(36): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	350	0.0029	43	c.-37 others(52): Show c.-378_-377insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		181		chr1	TogoVar
STX6_chr1_180967725_181027870	181023068	C C	CTCTCTCT others(36): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0278 a0001c0002t0002g0278	1	350	0.0029	43	c.-39 others(52): Show c.-396_-395insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		199		chr1	TogoVar
STX7_chr6_132440867_132518116	132509470	A A	AAAATAAA others(36): Show AAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02615.hp2 others(1): Show HG02145.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0048 a0001c0001t0052 a0001c0001t0016 a0001c0001t0048 a0001c0001t0052	a0001c0001t0016g0291 a0001c0001t0048g0292 a0001c0001t0048g0293 others(1): Show a0001c0001t0016g0291 a0001c0001t0048g0292 a0001c0001t0048g0293 a0001c0001t0052g0290	4	380	0.0105	43	c.-59 others(60): Show c.-59+3536_-59+3537insATTTTATTTTATTTTATTTTATTTTATT TTATTTATTTTATTT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX8_chr17_9245471_9580820	9480895	T T	TTTCTTTC others(36): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 HG02145.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0032 a0001c0003t0002g0005 a0001c0003t0001g0032 a0001c0003t0002g0005	2	188	0.0106	43	c.541 others(62): Show c.541+10933_541+10934insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121190707	G G	GGCTGGCC others(36): Show GGCTGGCCGGGCGGGGGGCTGCCCCCCACCTCCCGGATGGGGCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	290	0.0035	43	c.878 others(62): Show c.878-15200_878-15199insGCTGCCCCCCACCTCCCGGATGGGGC AGCTGGCCGGGCGGGGG	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
SUPT3H_chr6_44821726_45382934	45230686	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0054	1	262	0.0038	43	c.102 others(64): Show c.102-124681_102-124680insAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT5H_chr19_39440582_39481670	39449076	C C	CGAGACTC others(36): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp2 others(66): Show HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02165.hp1 HG02293.hp1 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03130.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp2 NA19072.hp1 NA19079.hp1 NA19085.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0030 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0158 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0002g0058 a0001c0002t0001g0002 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0005t0001g0029 a0001c0005t0001g0215 a0001c0006t0001g0033 a0001c0006t0001g0243 a0001c0015t0001g0230	69	378	0.1825	43	c.75+ others(58): Show c.75+3117_75+3118insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAGACT	SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUPT5H_chr19_39440582_39481670	39449081	C C	CTCCGTCT others(36): Show CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0159 a0001c0016t0001g0159	1	378	0.0027	43	c.75+ others(58): Show c.75+3117_75+3118insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAGAGT	SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	236	0.0042	43	c.-32 others(60): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SV2B_chr15_91095257_91307565	91125781	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0023 a0001c0003t0004g0023	1	214	0.0047	43	c.-39 others(64): Show c.-392+25437_-392+25438insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	426	0.0024	43	c.236 others(58): Show c.236-828_236-827insAAAAAAAAAAATATATATATATATATATAT ATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp2 NA19056.hp1 others(1): Show HG01106.hp2 HG01516.hp2 NA19056.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0020 a0001c0001t0001g0070	4	426	0.0094	43	c.236 others(58): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	426	0.0024	43	c.236 others(58): Show c.236-828_236-827insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	426	0.0024	43	c.236 others(58): Show c.236-828_236-827insAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(36): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	426	0.0024	43	c.236 others(58): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYN3_chr22_32502820_33063381	32572255	T T	TTCCTTCC others(36): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0166 a0002c0002t0011g0166	1	184	0.0054	43	c.774 others(62): Show c.774+24418_774+24419insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYNE2_chr14_63848004_64231433	64100531	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATAGATATATAGATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0051 a0004c0003t0003g0051	1	150	0.0067	43	c.123 others(64): Show c.12382-1400_12382-1399insAAAAAAAAAAATATATATATATAT ATAGATATATAGATATATA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	63/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19056.hp2 NA19007.hp2 NA19056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0012 a0003c0003t0003 a0003c0003t0012	a0003c0003t0003g0004 a0003c0003t0012g0003 a0003c0003t0003g0004 a0003c0003t0012g0003	2	420	0.0048	43	c.-64 others(52): Show c.-645_-644insTATATATATATATATATATATATATATATTTTTTTT TTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	420	0.0024	43	c.-64 others(52): Show c.-645_-644insTATATATATATATATATATATATATTTTTTTTTTTT TTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(36): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0185 a0003c0003t0003g0185	1	420	0.0024	43	c.-64 others(52): Show c.-645_-644insTATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYT9_chr11_7246904_7474043	7247617	G G	GTGTATAT others(36): Show GTGTATATATACGTATATATATACGTGATATATATATATACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	272	0.0037	43	c.-45 others(54): Show c.-4570_-4569insTGTATATATACGTATATATATACGTGATATATAT ATATACATA	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding		4286		chr11	TogoVar
SYT9_chr11_7246904_7474043	7247674	A A	ATATATAT others(36): Show ATATATATACGTGATATATATATATACACATATGTATATATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0060 a0001c0002t0009g0060	1	272	0.0037	43	c.-45 others(54): Show c.-4513_-4512insTATATATACGTGATATATATATATACACATATGT ATATATACG	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding		4229		chr11	TogoVar
TACR1_chr2_75041463_75204520	75094859	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0008 a0001c0003t0004g0008	1	282	0.0036	43	c.584 others(62): Show c.584+25714_584+25715insATATATATATATATATATATATATAT ATATATATATATATATA	TACR1	ENSG00000115353.11	transcript	ENST00000305249.10	protein_coding	2/4			chr2	TogoVar
TAF3_chr10_7813505_8021631	7871435	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02922.hp2 HG01516.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0273 a0001c0001t0001g0120 a0001c0001t0001g0273	2	344	0.0058	43	c.409 others(62): Show c.409+46900_409+46901insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT	TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TAF8_chr6_42045524_42088272	42081054	G G	GCAAAATA others(36): Show GCAAAATATATGAACCCCTGTATATGCCTCATCAAGCTTCCACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0247 a0001c0001t0063g0247	1	454	0.0022	43	c.35 others(54): Show c.3511_*3553dupAAAATATATGAACCCCTGTATATGCCTCATCAAG CTTCCACAC	TAF8	ENSG00000137413.17	transcript	ENST00000372977.8	protein_coding	9/9	3554	INFO_REALIGN_3_PRIME	chr6	TogoVar
TANK_chr2_161155428_161241230	161238876	C C	CCTCCTCC others(36): Show CCTCCTCCACTCATACCAATCCCCCGCAGCTCCTCCCCGCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0013 a0001c0001t0012g0013	1	314	0.0032	43	c.33 others(54): Show c.3358_*3359insCTCCTCCACTCATACCAATCCCCCGCAGCTCCTC CCCGCCCGA	TANK	ENSG00000136560.14	transcript	ENST00000392749.7	protein_coding		2647		chr2	TogoVar
TAOK1_chr17_29385363_29556903	29468135	A A	ATTTTTTT others(36): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0203 a0001c0004t0001g0203	1	326	0.0031	43	c.204 others(58): Show c.204+936_204+937insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARS3_chr15_101648596_101729473	101714605	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	278	0.0036	43	c.690 others(58): Show c.690+234_690+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	4/18			chr15	TogoVar
TAS2R1_chr5_9622347_9635351	9633285	G G	GTATATAT others(36): Show GTATATATTATATATATATATATATTTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0000 a0002c0002t0013g0000	1	458	0.0022	43	c.-32 others(54): Show c.-3254_-3253insTATATATATATATATATAAATATATATATATATA TAATATATA	TAS2R1	ENSG00000169777.7	transcript	ENST00000382492.4	protein_coding		2935		chr5	TogoVar
TASL_chrX_30553809_30582766	30571288	A A	AAGAAAGA others(36): Show AAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	318	0.0031	43	c.-2+ others(58): Show c.-2+5463_-2+5464insCTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTCTTTCT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCCTCTCC others(36): Show TCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp2 HG03516.hp2 HG03041.hp2 HG03225.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0116 a0001c0001t0044 a0001c0002t0116	a0001c0001t0044g0328 a0001c0001t0044g0330 a0001c0002t0116g0133 a0001c0001t0044g0328 a0001c0001t0044g0330 a0001c0002t0116g0133	3	334	0.0090	43	c.10 others(56): Show c.10893_*10894insGAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAG GAGGGGAGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCTCCTCC others(36): Show TCTCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0082 a0001c0002t0082	a0001c0002t0082g0082 a0001c0002t0082g0082	1	334	0.0030	43	c.10 others(56): Show c.10893_*10894insGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGAG GAGGGGAGGAG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992862	C C	CCACTCCC others(36): Show CCACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0200 a0002c0003t0001g0200	1	280	0.0036	43	c.52 others(54): Show c.5297_*5298insAGTGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGG GGGGGAGTG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2122		chr15	TogoVar
TBC1D32_chr6_121074494_121339480	121192051	T T	TCTTTATA others(36): Show TCTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18961.hp2 HG01496.hp2 NA18961.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0007 a0003c0004t0003g0076 a0003c0004t0003g0007 a0003c0004t0003g0076	2	292	0.0069	43	c.257 others(64): Show c.2570+13023_2570+13024insTATATATATATATATATATATATA TATATATATATATATAAAG	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	22/31			chr6	TogoVar

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Search Results (Total: 2299 hits)