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
SKI_chr1_2223319_2315213	2282207	C C	CCGAGAGG others(102): Show CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAA GACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19002.hp1 NA18967.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0130 a0001c0001t0018g0147 a0001c0001t0003g0130 a0001c0001t0018g0147	2	330	0.0061	109	c.970 others(128): Show c.970-20771_970-20770insCGAGAGGACAGGCGGTGGTGGAGATC TTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCATAG AGAGGTGGCGGAGATCTTCAGAGAGAAGACACG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1098278	C C	CTAACCCT others(102): Show CTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCA GGCCCCCTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	118	0.0085	109	c.125 others(126): Show c.125-4031_125-4030insAAAGGGGGCCTGGGCATGCAGAGGGTTA GAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAGAAGGGGGCTTGGTGAGCAGAGGGTTA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098348	C C	CAGCCCCC others(102): Show CAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCTCTAACCCTCTGCA CACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCTCACCA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0027 a0002c0015t0001g0027	1	118	0.0085	109	c.125 others(126): Show c.125-4101_125-4100insTGGTGAGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGG GCCTGGGTGTGCAGAGGGTTAGAGGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC25A41_chr19_6421037_6438763	6429424	G G	GAAAAGGT others(102): Show GAAAAGGTGAAAGGGAGGAGGGAGAGGAGGGACAAAAGAGGAGAAGAGGA GGAGGGAGAAAGGGGAGGAGGAGGAAGTGAAGGGGAGGAGGGAGAAGTGG GAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	350	0.0029	109	c.624 others(124): Show c.624+299_624+300insTTCTTTTCTCCCACTTCTCCCTCCTCCCCT TCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTC CCTCCTCTCCCTCCTCCCTTTCACCTTTT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC28A1_chr15_84879662_84950798	84928551	T T	TTTCTTTC others(102): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTC TCTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	396	0.0025	109	c.108 others(128): Show c.1083+4481_1083+4482insCTCTCTCTCTCTCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	SLC28A1	ENSG00000156222.12	transcript	ENST00000394573.6	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC2A5_chr1_9030106_9074635	9053352	T T	TATATATA others(102): Show TATATATATTATATATTTATATATTATATATATTTATATATATTATATAT TTATATATTATATATATTTATATATATTATATATTTATATATTATATATA TTTATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	336	0.0030	109	c.293 others(126): Show c.293+3987_293+4095dupTATATATAAATATATATAATATATAAAT ATATAATATATATAAATATATATAATATATAAATATATAATATATATAAA TATATATAATATATAAATATATAATATATAT	SLC2A5	ENSG00000142583.18	transcript	ENST00000377424.9	protein_coding	3/11			chr1	TogoVar
SLC66A2_chr18_79897420_79956653	79921892	G G	GAGAGGTC others(102): Show GAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAGG GTCAGTGGGGAGAGATGGACCAAGTGAGAAGTCAAGGTCACGGAGGAGAG TTGGGAACTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02165.hp1 others(8): Show HG01257.hp2 HG01258.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG04228.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18983.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0025 a0001c0001t0001 a0001c0001t0007 a0001c0001t0025	a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0063 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0007g0144 a0001c0001t0025g0014	11	352	0.0313	109	c.392 others(126): Show c.392-2493_392-2492insTAGTTCCCAACTCTCCTCCGTGACCTTG ACTTCTCACTTGGTCCATCTCTCCCCACTGACCCTGACCTCTCCCTCGGT TCCTGTCTCTCCTCCTCTGACCCTGACCTCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921892	G G	GAGAGGTC others(102): Show GAGAGGTCAGGGTCAGAGGAGGAGAGACAGTAACCGAGGGAGAGGTCAGG GTCAGTGGGGAGAGATGGACCAAGTGAGAAGTCAAGGTCACGGAGGAGAG TTGGGAACTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0272 a0001c0001t0007g0272	1	352	0.0028	109	c.392 others(126): Show c.392-2493_392-2492insTAGTTCCCAACTCTCCTCCGTGACCTTG ACTTCTCACTTGGTCCATCTCTCCCCACTGACCCTGACCTCTCCCTCGGT TACTGTCTCTCCTCCTCTGACCCTGACCTCT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952666	T T	TGGGTGAG others(102): Show TGGGTGAGGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGAGC GTGGGTGAGGGGTGAGGGGTGAGTGATGCGCGAGTGAAGGGTGAGGGGCG CCTGGGTGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	352	0.0028	109	c.-11 others(120): Show c.-1186_-1185insCTCACCCAGGCGCCCCTCACCCTTCACTCGCGCA TCACTCACCCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGC GCCCCTCACCCCTCACCCCTCACCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1014		chr18	TogoVar
SLC7A10_chr19_33203664_33230850	33218661	A A	ATTTCTTT others(102): Show ATTTCTTTCTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCCTTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	410	0.0024	109	c.152 others(126): Show c.152-2689_152-2688insGAAGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAAAGAAAGAAAAGAAAGAAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218666	T T	TTTCTTTT others(102): Show TTTCTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0299	1	410	0.0024	109	c.152 others(126): Show c.152-2694_152-2693insGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAAAGAAAGAAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLCO3A1_chr15_91848708_92170903	91957004	A A	ATATATAC others(102): Show ATATATACTATATATTATATATACTATATATAATATATAGTATATATATT ATATATACTATATATAATATATAGTATATATATTATATATATAATATATA GTATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0106 a0001c0001t0037g0106	1	190	0.0053	109	c.646 others(128): Show c.646+40552_646+40553insCTATATATTATATATACTATATATAA TATATAGTATATATATTATATATACTATATATAATATATAGTATATATAT TATATATATAATATATAGTATATATACTATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLK_chr10_103962140_104034233	103992646	G G	GGTAAATA others(102): Show GGTAAATACCTTTTTGTTCTTTCTGTTCATATCTTAAATTATACTTGATA AGATGAAAGAATTTCAACCATATATAAATATATTCAAATATGTAAGTATC GAGTAAAGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(149): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19082.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(4): Show a0001 a0003 a0007 a0008 a0011 a0012 a0015	a0001c0001 a0001c0014 a0001c0017 others(6): Show a0001c0001 a0001c0014 a0001c0017 a0003c0003 a0007c0009 a0008c0013 a0011c0015 a0012c0016 a0015c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0014t0001 a0001c0017t0001 a0003c0003t0001 a0007c0009t0001 a0008c0013t0001 a0011c0015t0001 a0012c0016t0001 a0015c0019t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(144): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0197 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0327 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0353 a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0255 a0001c0001t0004g0290 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0339 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0345 a0001c0001t0008g0346 a0001c0001t0008g0347 a0001c0001t0008g0348 a0001c0001t0008g0349 a0001c0001t0008g0350 a0001c0001t0008g0351 a0001c0001t0008g0352 a0001c0001t0014g0012 a0001c0001t0015g0249 a0001c0001t0015g0261 a0001c0001t0016g0270 a0001c0001t0019g0013 a0001c0001t0021g0322 a0001c0001t0022g0283 a0001c0001t0025g0256 a0001c0001t0027g0344 a0001c0001t0029g0222 a0001c0014t0001g0230 a0001c0017t0001g0239 a0003c0003t0001g0160 a0007c0009t0001g0311 a0007c0009t0001g0324 a0008c0013t0001g0252 a0011c0015t0001g0282 a0012c0016t0001g0291 a0015c0019t0004g0292	152	376	0.4043	109	c.364 others(122): Show c.364+1_364+109dupGTAAATACCTTTTTGTTCTTTCTGTTCATATC TTAAATTATACTTGATAAGATGAAAGAATTTCAACCATATATAAATATAT TCAAATATGTAAGTATCGAGTAAAGTT	SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr10	TogoVar
SMOC2_chr6_168436184_168672992	168668970	C C	CGTCCCCC others(102): Show CGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCCCACGCCCCACCCCCC CCTCCCCCACACCCCAGGTCCCCCTCCCCAACACCCTGCATCCCCTCCCC CACGCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02572.hp2 others(9): Show HG01243.hp2 HG01891.hp1 HG02572.hp2 HG02602.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03654.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0132 others(9): Show a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0054	12	180	0.0667	109	c.25 others(120): Show c.2532_*2533insGTCCCCCTCCCCCACACCCTACGCCCCCCTCCCC CACGCCCCACCCCCCCCTCCCCCACACCCCAGGTCCCCCTCCCCAACACC CTGCATCCCCTCCCCCACGCCTGCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding		979		chr6	TogoVar
SNX29_chr16_11971734_12579287	12239407	C C	CTGAATCG others(102): Show CTGAATCGTCTGATGTGTGTTTCTGAGTGTGTGCATGTGATTGACTTGTT TGTTTGAATGTGTGTTTTTGAAATGTGATGTTTGTGCTTGTCTTGACCTG TTGGATGTCG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0162 a0001c0001t0110g0162	1	176	0.0057	109	c.167 others(130): Show c.1679-38526_1679-38525insTGAATCGTCTGATGTGTGTTTCTG AGTGTGTGCATGTGATTGACTTGTTTGTTTGAATGTGTGTTTTTGAAATG TGATGTTTGTGCTTGTCTTGACCTGTTGGATGTCG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20			chr16	TogoVar
SPIDR_chr8_47255938_47741306	47458357	T T	TTTATATT others(102): Show TTTATATTTTATTTTATTTTATTTTATTTTATTTTATACTTATTTTATTT TATACTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATG TTATGTTATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0120 a0004c0004t0002g0120	1	216	0.0046	109	c.109 others(130): Show c.1097+17819_1097+17820insATTTTATTTTATTTTATTTTATTT TATTTTATACTTATTTTATTTTATACTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATGTTATGTTATGTTAT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPON1_chr11_13957723_14273133	14161057	T T	TTTTATAT others(102): Show TTTTATATATCTATATATTTATATATTTATATATATCTATATATTTATAT ATATTTATATATATCTATATATATTTTTATATATTTATATATATATCTAT ATATTTTTTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0218 a0001c0001t0019g0218	1	224	0.0045	109	c.825 others(128): Show c.825+25490_825+25491insTTATATATCTATATATTTATATATTT ATATATATCTATATATTTATATATATTTATATATATCTATATATATTTTT ATATATTTATATATATATCTATATATTTTTTAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
STARD8_chrX_68642666_68730836	68652845	C C	CTCACACC others(102): Show CTCACACCACACACACACACCCCACACCCCACACACACACCCCACACCCC TCACACACACCACACACCACACACACCACACACACCACAGCACACACACA CCACAGCACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0169 a0007c0011t0001g0170 a0007c0011t0001g0169 a0007c0011t0001g0170	2	199	0.0101	109	c.45+ others(124): Show c.45+4918_45+4919insTCACACCACACACACACACCCCACACCCCA CACACACACCCCACACCCCTCACACACACCACACACCACACACACCACAC ACACCACAGCACACACACACCACAGCACA	STARD8	ENSG00000130052.14	transcript	ENST00000374599.8	protein_coding	1/14			chrX	TogoVar
STARD9_chr15_42570606_42725998	42712111	A A	AATATATA others(102): Show AATATATATAATATATATAATATATAATATATATATTATATATTATATAT TATATATATTATATATATTATATATATTATATATTATATATATTATATAT ATTATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0205 a0001c0001t0001g0059 a0001c0001t0001g0205	2	210	0.0095	109	c.132 others(130): Show c.13285-4559_13285-4558insTAATATATATAATATATAATATAT ATATTATATATTATATATTATATATATTATATATATTATATATATTATAT ATTATATATATTATATATATTATATATTATATATA	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STK32C_chr10_132202492_132312950	132280240	A A	ACCGTGAC others(102): Show ACCGTGACCACGCCCCTGCACCCCGTGACCACGCCCCTGCACCCCGTGAC CACGCCCCTGCACTCCATGATCATGCCACTGCACTCCCTGACTATGCTGA GGCCTCCACT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03710.hp1 HG03688.hp2 HG03710.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0359 a0003c0007t0006g0362 a0003c0007t0006g0359 a0003c0007t0006g0362	2	368	0.0054	109	c.262 others(128): Show c.262+27223_262+27331dupAGTGGAGGCCTCAGCATAGTCAGGGA GTGCAGTGGCATGATCATGGAGTGCAGGGGCGTGGTCACGGGGTGCAGGG GCGTGGTCACGGGGTGCAGGGGCGTGGTCACGG	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132284364	G G	GGGGGGGC others(102): Show GGGGGGGCAGGTGAGGTTGGGGGGGGCAGGTGAGGTTGCAGGGGCAGGTG AGGTTGGGGGGGCAGGTGAGGTTGGGAGGGCAGGTGAGGTTGGGGGGGGC AGGTGAGGTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	368	0.0027	109	c.262 others(128): Show c.262+23207_262+23208insAACCTCACCTGCCCCCCCCAACCTCA CCTGCCCTCCCAACCTCACCTGCCCCCCCAACCTCACCTGCCCCTGCAAC CTCACCTGCCCCCCCCAACCTCACCTGCCCCCC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK38L_chr12_27239286_27330959	27240876	T T	TTGTATAG others(102): Show TTGTATAGTTATATATATTACATATATGACTATGTATAGTTGTATAGTTA TATATATTACATATATGACTATGTATAGTTGTATAGTTATATATATTACA TATATGACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01255.hp1 others(1): Show HG00639.hp1 HG00738.hp2 HG01255.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035	4	374	0.0107	109	c.-34 others(120): Show c.-3468_-3467insTGTATAGTTATATATATTACATATATGACTATGT ATAGTTGTATAGTTATATATATTACATATATGACTATGTATAGTTGTATA GTTATATATATTACATATATGACTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3409		chr12	TogoVar
STOML3_chr13_38960925_38995831	38988601	A A	ATTTTTAT others(102): Show ATTTTTATATCATATATTTTATATATAATATATTATATTTTATATCATAT ATTTTATATATAATATATTATATTTTATATCATATATTTTATATATAATA TATTATATTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02970.hp2 others(2): Show HG02486.hp1 HG02615.hp1 HG02970.hp2 HG03098.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0046 a0001c0001t0004g0047 a0002c0002t0001g0045 others(2): Show a0001c0001t0004g0046 a0001c0001t0004g0047 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0049	5	396	0.0126	109	c.52+ others(124): Show c.52+2068_52+2069insAAATATAATATATTATATATAAAATATATG ATATAAAATATAATATATTATATATAAAATATATGATATAAAATATAATA TATTATATATAAAATATATGATATAAAAA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STX8_chr17_9245471_9580820	9485672	A A	ACCTCCCA others(102): Show ACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCATGTGCCACCACACCCAGCTAATTTTTTTATTTTTAGTAGA GACGGGGTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02055.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0035 a0001c0002t0001g0010 a0001c0002t0001g0035	2	188	0.0106	109	c.541 others(126): Show c.541+6048_541+6156dupAAACCCCGTCTCTACTAAAAATAAAAAA ATTAGCTGGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCACTTGAACCTGGGAGG	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
SUN1_chr7_827476_879934	866712	G G	GCCCCCAC others(102): Show GCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCACTGTCTC CCCACCATCTCCGTGGGCCTTCGCCCCCACTGTCTCCCCACCATCTCCAT GGGCCTTCGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03490.hp2 HG03710.hp1 others(3): Show HG03017.hp1 HG03490.hp2 HG03710.hp1 NA18951.hp1 NA19007.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0185 a0001c0001t0001g0189 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0223	6	418	0.0144	109	c.198 others(126): Show c.1980+650_1980+651insACTGTCTCCCCACCATCTCCGTGGGCCT TCGCCCCCACTGTCTCCCCACCATCTCCGTGGGCCTTCGCCCCCACTGTC TCCCCACCATCTCCATGGGCCTTCGCCCCCC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SYT3_chr19_50616977_50644881	50629695	G G	GCCCCCAG others(102): Show GCCCCCAGCCCCTCCTCCTTCAGACCCGGGAGTCCAGGACAAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCA GAAGTCCAGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02895.hp2 HG02056.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0209 a0001c0001t0004g0154 a0001c0001t0001g0209 a0001c0001t0004g0154	2	388	0.0052	109	c.106 others(124): Show c.1062+88_1062+89insTCTGGACTTCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTTGTCCTGGACT CCCGGGTCTGAAGGAGGAGGGGCTGGGGG	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
SYT3_chr19_50616977_50644881	50629722	G G	GGGAGTCC others(102): Show GGGAGTCCAGGCCCCCAGCCCCTCCTCCTTCAGACCCGGGAGTCCAGGAC AAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCC CTCAGACCCA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	388	0.0026	109	c.106 others(124): Show c.1062+61_1062+62insTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTTGTCCTGGACTCCCGGGTCTG AAGGAGGAGGGGCTGGGGGCCTGGACTCC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
TBATA_chr10_70766238_70790377	70767624	A A	AAGAAAGA others(102): Show AAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAAAGAAAGAGAGAAAGAGAG AAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAG AGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	410	0.0024	109	c.37 others(120): Show c.3751_*3752insCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTCT CTTCTTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3613		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(102): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAGAA AGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	410	0.0024	109	c.37 others(120): Show c.3715_*3716insCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTT CTTTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(102): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	410	0.0024	109	c.37 others(120): Show c.3715_*3716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(102): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAGAAAGGA AGGAGAAAGAAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0161 a0010c0014t0001g0161	1	410	0.0024	109	c.37 others(120): Show c.3715_*3716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTCCTTCCTTTCTTTCTCCTTCCTTTCTCTTTCTTTCTTTCTTC TTTCTTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCCCCTCC others(102): Show TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCC TCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCC CTCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0223 a0001c0003t0003g0223	1	334	0.0030	109	c.10 others(122): Show c.10893_*10894insGGGAGGGGAGGGGGAGGAGAGGGGAGGGGAGG GGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	47176340	A A	ACGGGGTG others(102): Show ACGGGGTGTGGGGTGTGCCCCTGTCCCCACGGGTGTGAGGTGTGCCCCTG TCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCC CCTGTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG02074.hp2 others(10): Show HG00639.hp1 HG01496.hp1 HG02074.hp2 HG02257.hp1 HG02809.hp2 HG03130.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18980.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0107	13	112	0.1161	109	c.27 others(120): Show c.2714_*2715insCGGGGTGTGGGGTGTGCCCCTGTCCCCACGGGTG TGAGGTGTGCCCCTGTCCCCGCGGGTGTGGGGTGTGCCCCTGTCCCCGCG GGTGTGGGGTGTGCCCCTGTCCCCG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding		648		chr22	TogoVar
TBX5_chr12_114348911_114411144	114350940	C C	CCCACAAA others(102): Show CCCACAAATGTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	390	0.0026	109	c.45 others(120): Show c.4591_*4592insAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGG GCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAAACACATTTGTGG	TBX5	ENSG00000089225.20	transcript	ENST00000405440.7	protein_coding		2970		chr12	TogoVar
TCF25_chr16_89868592_89916379	89908316	T T	TAGTTCTT others(102): Show TAGTTCTTTCTTTCCTCACAGTTCCCACCTCCCAGCTCCCATCTTCCAGC TCCCAGCTCCCACCTCCCTCCTTCCAGTTTCCACCTCCCAGCTCCCACCT CCCACCTTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 HG03704.hp1 others(4): Show HG03239.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 NA18951.hp1 NA18979.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0001 a0001c0005t0004	a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0005t0001g0266 others(4): Show a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0005t0001g0266 a0001c0005t0001g0267 a0001c0005t0001g0268 a0001c0005t0001g0269 a0001c0005t0004g0271	7	300	0.0233	109	c.179 others(127): Show c.1799+999_1799+1000insTTTCTTTCCTCACAGTTCCCACCTCCC AGCTCCCATCTTCCAGCTCCCAGCTCCCACCTCCCTCCTTCCAGTTTCCA CCTCCCAGCTCCCACCTCCCACCTTCCAGTTC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TENM2_chr5_166974029_168269157	167600086	C C	CGTTAGCC others(102): Show CGTTAGCCAACACTGCACCACTCCACTCCAGCCTGGGCGACAGAACGAGA CTCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTTC ATTATGTTGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0029 a0001c0008t0003g0029	1	54	0.0185	109	c.502 others(130): Show c.502+224613_502+224614insGTTAGCCAACACTGCACCACTCCA CTCCAGCCTGGGCGACAGAACGAGACTCTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAGTTTCATTATGTTGT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30			chr5	TogoVar
TENM2_chr5_166974029_168269157	167600086	C C	CGTTAGCC others(102): Show CGTTAGCCAACACTGCACCACTCCACTCCAGCCTGGGCGACAGAACGAGA CTCTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTC ATTATGTTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0005 a0002c0032t0005	a0002c0032t0005g0018 a0002c0032t0005g0018	1	54	0.0185	109	c.502 others(130): Show c.502+224613_502+224614insGTTAGCCAACACTGCACCACTCCA CTCCAGCCTGGGCGACAGAACGAGACTCTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATGTTTCATTATGTTGT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30			chr5	TogoVar
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(102): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0291	1	392	0.0026	109	c.228 others(126): Show c.2287-294_2287-293insTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273007	A A	ACACATCA others(102): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACAACCGCCATCCACAGTCACCACATCAGACCCCCGGGACCAACCGCCAT CCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	392	0.0026	109	c.228 others(126): Show c.2287-728_2287-727insGTGACTGTGGATGGCGGTTGGTCCCGGG GGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273102	C C	CCGCCATC others(102): Show CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCTGTGACCGATCGCCATCCACAGTCACCACATCAG ACCCCACGAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	392	0.0026	109	c.228 others(126): Show c.2287-823_2287-822insGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACATCAGA others(102): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCAT CCACAGTCAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 HG02615.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0221 a0001c0001t0001g0129 a0001c0001t0001g0221	2	392	0.0051	109	c.228 others(126): Show c.2287-911_2287-910insGTGACTGTGGATGGTGATCGGTCACAGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273190	A A	ACATCAGA others(102): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCG GGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	392	0.0026	109	c.228 others(126): Show c.2287-911_2287-910insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377320	C C	CCCCACCC others(102): Show CCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCC CCGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCC CCCCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	370	0.0027	109	c.-13 others(120): Show c.-1351_-1350insCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGC ACGGGGGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1295		chr19	TogoVar
THEG_chr19_356747_381026	377412	T T	TCCCCCCC others(102): Show TCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACC CAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	370	0.0027	109	c.-14 others(120): Show c.-1443_-1442insGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAG AGGCTGGGTGGGGGCACGGGGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1387		chr19	TogoVar
THEG_chr19_356747_381026	377412	T T	TCCCCCTG others(102): Show TCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0309 a0001c0001t0059g0309	1	370	0.0027	109	c.-14 others(120): Show c.-1443_-1442insGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACACAGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1387		chr19	TogoVar
THEG_chr19_356747_381026	377528	G G	GCCCCCAC others(102): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT GTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA20905.hp1 NA18947.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0070 a0001c0001t0002g0071	2	370	0.0054	109	c.-15 others(120): Show c.-1559_-1558insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1503		chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181332	C C	CTCTCTCT others(102): Show CTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTC CTCTCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTTCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	54	0.0185	109	c.803 others(126): Show c.803-1367_803-1366insTCTCTCTCTCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCTCTCTTCCT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
TMC6_chr17_78102397_78133755	78111931	A A	ATGACGGG others(102): Show ATGACGGGCTGGTCCCCACAGGCCTGGAGCACAGGCTGACGGGCTGGTCC CCACAGACCTGGAGCACTGGGGTCATGACGGGCTGGTCCCCGCAGGCCTG GAGCACAGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00544.hp2 others(67): Show HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG01070.hp1 HG01099.hp2 HG01123.hp1 HG01261.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03834.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18957.hp2 NA18968.hp2 NA18970.hp1 NA18981.hp1 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA19007.hp2 NA19030.hp1 NA19062.hp2 NA19064.hp1 NA19080.hp1 NA19240.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0022	a0001c0001 a0001c0005 a0001c0033 others(9): Show a0001c0001 a0001c0005 a0001c0033 a0002c0002 a0003c0003 a0004c0006 a0004c0012 a0005c0004 a0007c0007 a0008c0013 a0009c0015 a0022c0031	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(32): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0032 a0001c0001t0064 a0001c0001t0066 a0001c0001t0083 a0001c0001t0088 a0001c0005t0004 a0001c0005t0016 a0001c0033t0004 a0002c0002t0007 a0002c0002t0010 a0002c0002t0013 a0002c0002t0026 a0003c0003t0004 a0003c0003t0016 a0003c0003t0065 a0004c0006t0007 a0004c0006t0010 a0004c0006t0013 a0004c0006t0043 a0004c0012t0010 a0004c0012t0040 a0004c0012t0041 a0005c0004t0004 a0005c0004t0067 a0007c0007t0042 a0008c0013t0032 a0009c0015t0010 a0022c0031t0004	a0001c0001t0004g0161 a0001c0001t0004g0249 a0001c0001t0004g0250 others(67): Show a0001c0001t0004g0161 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0256 a0001c0001t0004g0258 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0272 a0001c0001t0004g0281 a0001c0001t0004g0300 a0001c0001t0004g0324 a0001c0001t0007g0081 a0001c0001t0011g0286 a0001c0001t0011g0287 a0001c0001t0011g0288 a0001c0001t0011g0289 a0001c0001t0011g0290 a0001c0001t0013g0083 a0001c0001t0013g0087 a0001c0001t0016g0280 a0001c0001t0016g0343 a0001c0001t0017g0009 a0001c0001t0017g0013 a0001c0001t0017g0014 a0001c0001t0022g0180 a0001c0001t0022g0265 a0001c0001t0022g0266 a0001c0001t0032g0276 a0001c0001t0064g0275 a0001c0001t0066g0259 a0001c0001t0083g0314 a0001c0001t0088g0336 a0001c0005t0004g0310 a0001c0005t0016g0181 a0001c0033t0004g0347 a0002c0002t0007g0107 a0002c0002t0007g0108 a0002c0002t0007g0110 a0002c0002t0007g0131 a0002c0002t0010g0136 a0002c0002t0013g0059 a0002c0002t0026g0101 a0002c0002t0026g0119 a0003c0003t0004g0357 a0003c0003t0004g0366 a0003c0003t0004g0380 a0003c0003t0004g0396 a0003c0003t0004g0400 a0003c0003t0016g0401 a0003c0003t0065g0364 a0004c0006t0007g0032 a0004c0006t0007g0035 a0004c0006t0007g0036 a0004c0006t0007g0039 a0004c0006t0010g0037 a0004c0006t0010g0057 a0004c0006t0013g0040 a0004c0006t0043g0048 a0004c0012t0010g0034 a0004c0012t0040g0033 a0004c0012t0041g0031 a0005c0004t0004g0201 a0005c0004t0004g0209 a0005c0004t0067g0210 a0007c0007t0042g0064 a0008c0013t0032g0179 a0009c0015t0010g0111 a0022c0031t0004g0423	70	444	0.1577	109	c.12 others(120): Show c.1216_*1217insGCCTGTGCTCCAGGCCTGCGGGGACCAGCCCGTC ATGACCCCAGTGCTCCAGGTCTGTGGGGACCAGCCCGTCAGCCTGTGCTC CAGGCCTGTGGGGACCAGCCCGTCA	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	20/20	1216		chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747895	G G	GCTGGGGT others(102): Show GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGGCTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	314	0.0032	109	c.189 others(124): Show c.189-418_189-417insCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGGCTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGCGGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125190836	G G	GGTGGTGG others(102): Show GGTGGTGGTGGTGATAGGGAAGGGGTGGTGATGGTGACGGGGAAGGGGTG GTGATGGGGAAGGGGTGGTGATGGTGACGGGGAAGGGTGGTGATGGGGAA GGGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0100 a0001c0007t0019g0100	1	128	0.0078	109	c.67+ others(124): Show c.67+3970_67+3971insGTGGTGGTGGTGATAGGGAAGGGGTGGTGA TGGTGACGGGGAAGGGGTGGTGATGGGGAAGGGGTGGTGATGGTGACGGG GAAGGGTGGTGATGGGGAAGGGGTGGTGA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8			chr12	TogoVar

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Search Results (Total: 10000 hits)