Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

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
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(40): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0003 a0006c0027t0003	a0006c0027t0003g0075 a0006c0027t0003g0075	1	370	0.0027	47	c.-47 others(64): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRBD1_chr2_45383680_45616267	45587038	T T	TTTTTAAA others(40): Show TTTTTAAATATTTATTTTAAAATATAATTATTAAAATATTTAAAATTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18951.hp1 HG00423.hp2 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0080 a0002c0002t0001g0081	2	358	0.0056	47	c.649 others(64): Show c.649-1265_649-1264insTAATTTTAAATATTTTAATAATTATATT TTAAAATAAATATTTAAAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883183	G G	GCCGCCGC others(40): Show GCCGCCGCGGGGGGGGCAAAAAGCCTCGGCCGCGTGGGGGCAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG03831.hp2 HG00735.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0044 a0001c0001t0016g0038 a0001c0001t0001g0044 a0001c0001t0016g0038	2	56	0.0357	47	c.89 others(58): Show c.8976_*8977insGTTTTTTGCCCCCACGCGGCCGAGGCTTTTTGCC CCCCCCGCGGCGG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4104		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883183	G G	GCCGCGGC others(40): Show GCCGCGGCGGGGGGGGCAAAAAGCCTCGGCCGCGTGGGGGCAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01109.hp1 others(3): Show HG00735.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01952.hp1 NA18946.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0006c0005t0006	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0003g0022 a0001c0001t0009g0046 a0006c0005t0006g0053	6	56	0.1071	47	c.89 others(58): Show c.8976_*8977insGTTTTTTGCCCCCACGCGGCCGAGGCTTTTTGCC CCCCCCGCCGCGG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4104		chr1	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAACATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	396	0.0025	47	c.-34 others(64): Show c.-34+5364_-34+5365insAAAAAAAAAAAATATATATATATATATA TATATATATAACATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062741	A A	AATATATA others(40): Show AATATATACATTATATATTATATATTATACAATATATTATATTTATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp2 HG00140.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0051 a0001c0001t0002g0058	2	365	0.0055	47	c.562 others(64): Show c.562-1168_562-1167insAAATAAATATAATATATTGTATAATATA TAATATATAATGTATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK2_chr7_105111374_105393921	105377633	T T	TGCTGCAG others(40): Show TGCTGCAGTGAGAACTGAGATCGCGCCACCGCACTCCAGCCTGAGCAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	282	0.0036	47	c.71+ others(64): Show c.71+10968_71+11014dupTTGCTCAGGCTGGAGTGCGGTGGCGCGA TCTCAGTTCTCACTGCAGC	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SSBP3_chr1_54220432_54411394	54369699	A A	AGACGCTC others(40): Show AGACGCTCAGAACAGAATCAGATACTCAGACTCACCAACCAGTCTGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(34): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00733.hp2 HG01106.hp1 HG01884.hp1 HG01943.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG03017.hp2 HG03209.hp2 HG03654.hp1 HG03834.hp2 HG04115.hp1 HG04199.hp1 NA18942.hp2 NA18957.hp1 NA18959.hp2 NA18971.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18995.hp2 NA19000.hp1 NA19010.hp2 NA19012.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19080.hp2 NA19088.hp2 NA19089.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0008 others(1): Show a0001c0001 a0001c0006 a0002c0008 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0032 a0001c0001t0035 a0001c0006t0015 a0002c0008t0002 a0003c0007t0002	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 others(34): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0141 a0001c0001t0002g0021 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0004g0154 a0001c0001t0005g0057 a0001c0001t0005g0101 a0001c0001t0006g0160 a0001c0001t0006g0166 a0001c0001t0007g0223 a0001c0001t0008g0248 a0001c0001t0009g0197 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0009 a0001c0001t0012g0007 a0001c0001t0014g0095 a0001c0001t0017g0163 a0001c0001t0018g0260 a0001c0001t0022g0275 a0001c0001t0023g0008 a0001c0001t0032g0094 a0001c0001t0035g0158 a0001c0006t0015g0010 a0002c0008t0002g0058 a0003c0007t0002g0100	37	280	0.1321	47	c.276 others(66): Show c.276+32115_276+32161dupCTCAGACTGGTTGGTGAGTCTGAGTA TCTGATTCTGTTCTGAGCGTC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03710.hp1 HG00639.hp2 HG03710.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0003 a0003c0007t0002 a0002c0002t0003 a0003c0007t0002	a0002c0002t0003g0082 a0003c0007t0002g0035 a0002c0002t0003g0082 a0003c0007t0002g0035	2	412	0.0049	47	c.138 others(64): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0112 a0003c0007t0002g0112	1	412	0.0024	47	c.138 others(64): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA19070.hp1 HG01167.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0003c0011t0002 a0001c0001t0001 a0003c0011t0002	a0001c0001t0001g0130 a0003c0011t0002g0021 a0001c0001t0001g0130 a0003c0011t0002g0021	2	412	0.0049	47	c.138 others(64): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(40): Show AAAAGTAAAAGTAAAAGTAAAGTAAAGTAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	188	0.0053	47	c.152 others(66): Show c.152-72291_152-72290insAGTAAAAGTAAAGTAAAGTAAAGTAA AGTAAAGTAAAGTAAAGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTCTTT others(40): Show TTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0152 a0001c0001t0032g0153 a0001c0001t0032g0152 a0001c0001t0032g0153	2	362	0.0055	47	c.132 others(66): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAAA AGAAAGAAAGAAAGAAAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725972	A A	AAAAAAAA others(40): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	362	0.0028	47	c.132 others(66): Show c.132-21309_132-21308insCCAGGATATATATATATATATATATA TATATATATATTTTTTTTTTT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725980	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	362	0.0028	47	c.132 others(66): Show c.132-21317_132-21316insCCAGGATATATATATATATATATATA TATATATATATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(40): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0020 a0001c0004t0002g0020	1	268	0.0037	47	c.210 others(64): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(40): Show AAATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	268	0.0037	47	c.210 others(64): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	384	0.0026	47	c.762 others(66): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	384	0.0026	47	c.762 others(66): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0103 a0003c0003t0001g0103	1	404	0.0025	47	c.483 others(64): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0081 a0003c0003t0001g0081	1	404	0.0025	47	c.483 others(64): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK38L_chr12_27239286_27330959	27240907	A A	ATGTATAG others(40): Show ATGTATAGTTGTATAGTTATATATATTACATATATCACTATGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG01070.hp2 others(12): Show HG00099.hp1 HG00140.hp2 HG01070.hp2 HG01496.hp2 HG01517.hp1 HG01934.hp2 HG02015.hp2 HG02735.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp2 NA18999.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0258 a0001c0001t0003g0025 a0001c0001t0004g0002 others(10): Show a0001c0001t0001g0258 a0001c0001t0003g0025 a0001c0001t0004g0002 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0273	15	374	0.0401	47	c.-34 others(58): Show c.-3437_-3436insTGTATAGTTGTATAGTTATATATATTACATATAT CACTATGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3378		chr12	TogoVar
STK38L_chr12_27239286_27330959	27240907	A A	ATGTATAG others(40): Show ATGTATAGTTGTATAGTTATATATATTACATATATGACTATGTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	374	0.0027	47	c.-34 others(58): Show c.-3437_-3436insTGTATAGTTGTATAGTTATATATATTACATATAT GACTATGTATAGT	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3378		chr12	TogoVar
STRADB_chr2_201446740_201485846	201481916	G G	GGGGGTGG others(40): Show GGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	386	0.0026	47	c.17 others(58): Show c.1741_*1742insGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGT	STRADB	ENSG00000082146.13	transcript	ENST00000194530.8	protein_coding		1071		chr2	TogoVar
STRN3_chr14_30888804_31031379	31013886	T T	TATTATTA others(40): Show TATTATTATTATTATTATTATTATTATTATTATTTGAGACAGAGTGTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0298 a0002c0005t0004g0298	1	364	0.0028	47	c.282 others(66): Show c.282+11971_282+12017dupGACACTCTGTCTCAAATAATAATAAT AATAATAATAATAATAATAAT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STX8_chr17_9245471_9580820	9429826	T T	TGTTATAT others(40): Show TGTTATATATATAATATATATAATATATAATATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	188	0.0053	47	c.542 others(66): Show c.542-51174_542-51173insTATATTATATATTATATATTATATAT TATATATATTATATATATAAC	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771655	T T	TATATATA others(40): Show TATATATAATATATAAATATGATATATATCTATATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	334	0.0030	47	c.439 others(64): Show c.439-1003_439-1002insATATATAAATATGATATATATCTATATA TATCATATATAAATATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUFU_chr10_102498972_102638535	102638196	T T	TATATATG others(40): Show TATATATGATCATATAAATATATAATATATTATATATGATCATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 NA18943.hp2 HG04199.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0003 a0001c0001t0006 a0001c0004t0003	a0001c0001t0006g0225 a0001c0004t0003g0226 a0001c0001t0006g0225 a0001c0004t0003g0226	2	268	0.0075	47	c.80 others(58): Show c.8041_*8042insATATATGATCATATAAATATATAATATATTATAT ATGATCATATAAA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4662		chr10	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(40): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	236	0.0042	47	c.-32 others(64): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SV2C_chr5_76078383_76338956	76172290	G G	GGGGGGTC others(40): Show GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0009 a0001c0001t0004 a0001c0002t0009	a0001c0001t0004g0080 a0001c0002t0009g0186 a0001c0001t0004g0080 a0001c0002t0009g0186	2	234	0.0086	47	c.581 others(66): Show c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVOP_chr12_108902741_109026068	108917358	T T	TTCAGTCC others(40): Show TTCAGTCCTACCTTCTGCCTCTCTACCTGATATTTCAATTCTACTCAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	288	0.0035	47	c.135 others(64): Show c.1350+684_1350+685insTTGAGTAGAATTGAAATATCAGGTAGAG AGGCAGAAGGTAGGACTGA	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding	14/15			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0225 a0001c0001t0008g0225	1	426	0.0024	47	c.236 others(62): Show c.236-828_236-827insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	426	0.0024	47	c.236 others(62): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYN3_chr22_32502820_33063381	32942204	G G	GCAGACTG others(40): Show GCAGACTGACACCTCACACGGCCAGGTACCCCTCTGAGACAAAGCTTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0130 a0002c0002t0005g0130	1	184	0.0054	47	c.370 others(66): Show c.370-10770_370-10724dupGAAGCTTTGTCTCAGAGGGGTACCTG GCCGTGTGAGGTGTCAGTCTG	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13			chr22	TogoVar
SYNJ2_chr6_157976863_158104176	158096787	A A	AAGACAAG others(40): Show AAGACAAGCAGAACAGCCACCAAAAGAGCAAGCGAGCCCTGAAGGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0025 a0002c0036t0025	a0002c0036t0025g0034 a0002c0036t0025g0034	1	312	0.0032	47	c.42 others(56): Show c.423_*424insAGACAAGCAGAACAGCCACCAAAAGAGCAAGCGAGC CCTGAAGGTTG	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	27/27	424		chr6	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	420	0.0024	47	c.-64 others(56): Show c.-645_-644insTATATATATATATATATATATATATATATATATATT TTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(40): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0021 a0004c0004t0005g0021	1	420	0.0024	47	c.-64 others(56): Show c.-645_-644insTATATATATATATATATATATATATATATTTTTTTT TTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYT17_chr16_19163240_19273332	19252382	T T	TCCCAGGC others(40): Show TCCCAGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTTGCTGAGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02738.hp1 NA18943.hp1 others(5): Show HG01975.hp1 HG02738.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp1 NA18971.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0120 a0001c0001t0001g0237 others(5): Show a0001c0001t0001g0070 a0001c0001t0001g0120 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0003g0203 a0001c0001t0004g0015 a0001c0001t0015g0129 a0001c0002t0001g0063	8	324	0.0247	47	c.122 others(68): Show c.1229-14498_1229-14497insCCCAGGCTCAAGCAATTCTCCCAC CTCAGCCTCCCAAGTTGCTGAGA	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7			chr16	TogoVar
SYT17_chr16_19163240_19273332	19252382	T T	TCCCAGGC others(40): Show TCCCAGGCTCAAGCAATTCTCCCACCTCAGCCTCCCAAGTTGCTGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20300.hp1 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0070 a0001c0003t0016 a0001c0001t0070 a0001c0003t0016	a0001c0001t0070g0042 a0001c0003t0016g0289 a0001c0001t0070g0042 a0001c0003t0016g0289	2	324	0.0062	47	c.122 others(68): Show c.1229-14498_1229-14497insCCCAGGCTCAAGCAATTCTCCCAC CTCAGCCTCCCAAGTTGCTGGGA	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7			chr16	TogoVar
TAFA5_chr22_48484553_48756932	48736037	T T	TAGAGTCC others(40): Show TAGAGTCCATCCCCCGCAGGAGGAATGAGAATCACACTCCTAGAGTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02630.hp2 HG02897.hp1 others(5): Show HG01884.hp1 HG02630.hp2 HG02897.hp1 HG02976.hp2 HG03516.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0032 a0001c0001t0037	a0001c0001t0002g0010 a0001c0001t0002g0096 a0001c0001t0007g0050 others(5): Show a0001c0001t0002g0010 a0001c0001t0002g0096 a0001c0001t0007g0050 a0001c0001t0007g0155 a0001c0001t0014g0145 a0001c0001t0018g0028 a0001c0001t0032g0033 a0001c0001t0037g0154	8	258	0.0310	47	c.391 others(66): Show c.391-13800_391-13799insAGTCCATCCCCCGCAGGAGGAATGAG AATCACACTCCTAGAGTCCAG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TALDO1_chr11_742464_770012	763218	T T	TGCCCCCG others(40): Show TGCCCCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCCGCCCTCACCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03453.hp2 HG03471.hp1 others(1): Show HG02818.hp1 HG03453.hp2 HG03471.hp1 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0104 a0001c0001t0001g0265 a0001c0004t0001g0207 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0265 a0001c0004t0001g0207 a0002c0002t0001g0052	4	416	0.0096	47	c.462 others(62): Show c.462-105_462-104insGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCGCCCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763236	C C	CCCCGCCC others(40): Show CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	416	0.0024	47	c.462 others(62): Show c.462-105_462-104insGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCGGCCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763248	C C	CCCGCCCC others(40): Show CCCGCCCCCGCCCTCACCCATCCCCGCCCTCACCCATCCCCGCCCTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG01884.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	416	0.0048	47	c.462 others(60): Show c.462-94_462-93insGCCCCCGCCCTCACCCATCCCCGCCCTCACCC ATCCCCGCCCTCACC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TALDO1_chr11_742464_770012	763250	C C	CGCCCCCG others(40): Show CGCCCCCGCCCTCACCCGCCCCCGCCCTCACCTGCCCCGCCCTCACCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0259 a0001c0001t0002g0260	2	416	0.0048	47	c.462 others(60): Show c.462-94_462-93insGCCCCCGCCCTCACCCGCCCCCGCCCTCACCT GCCCCGCCCTCACCT	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7			chr11	TogoVar
TALDO1_chr11_742464_770012	763252	T T	TCCCCGCC others(40): Show TCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	416	0.0024	47	c.462 others(60): Show c.462-48_462-47insCGCCCCCGCCCTCACCGTCCCCGCCCTCACCC GCCCCCGCCCTCACC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TASL_chrX_30553809_30582766	30571256	G G	GAAAGAGA others(40): Show GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	318	0.0031	47	c.-2+ others(62): Show c.-2+5495_-2+5496insTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTCTTT	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TASL_chrX_30553809_30582766	30571259	A A	AGAGAAAG others(40): Show AGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	318	0.0031	47	c.-2+ others(62): Show c.-2+5492_-2+5493insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTC	TASL	ENSG00000120280.6	transcript	ENST00000378962.4	protein_coding	2/2			chrX	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(40): Show AAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAAGAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	410	0.0024	47	c.37 others(58): Show c.3715_*3716insCTTTCTTTCTTTCTTCTTTCTTTCTTCTTTCTTT CTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	47065611	C C	CCACGAGG others(40): Show CCACGAGGACTTAGCAGGCCTCGGAGTTGGGACTGGGTTGGATTGCCG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG02965.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0100 a0001c0001t0008g0036 a0001c0001t0008g0100	2	112	0.0179	47	c.132 others(68): Show c.1329+28457_1329+28458insCCGCACGAGGACTTAGCAGGCCTC GGAGTTGGGACTGGGTTGGATTG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47065611	C C	CCACGAGG others(40): Show CCACGAGGACTTAGCAGGCCTCGGAGTTGGGACTGGGTTGGATTGCGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01884.hp2 others(28): Show HG00642.hp1 HG00741.hp1 HG01884.hp2 HG02074.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG04199.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0002t0005 a0002c0003t0003 a0005c0006t0021	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 others(28): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0003g0063 a0001c0001t0004g0021 a0001c0001t0004g0053 a0001c0001t0004g0070 a0001c0001t0004g0093 a0001c0001t0005g0041 a0001c0001t0005g0055 a0001c0001t0006g0112 a0001c0001t0009g0043 a0001c0001t0009g0048 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0011g0023 a0001c0001t0015g0006 a0001c0001t0017g0068 a0001c0001t0023g0103 a0001c0002t0005g0011 a0002c0003t0003g0028 a0005c0006t0021g0019	31	112	0.2768	47	c.132 others(68): Show c.1329+28457_1329+28458insCGGCACGAGGACTTAGCAGGCCTC GGAGTTGGGACTGGGTTGGATTG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results