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
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(23): Show CACACACATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0143 a0001c0002t0003g0143	1	278	0.0036	30	c.75 others(41): Show c.7579_*7580insACACACATATATATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94937707	A A	AACACACA others(23): Show AACACACACACACACACACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0115 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0006g0115 a0001c0001t0009g0070 a0001c0001t0009g0071	3	226	0.0133	30	c.-11 others(51): Show c.-112-58322_-112-58321insCACACACAGACACACACACACACA CACACA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCAC others(23): Show GCGCGCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0024 a0001c0001t0011g0024	1	226	0.0044	30	c.349 others(45): Show c.349+635_349+636insGCGCACACACACACACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0037 a0005c0004t0037	a0005c0004t0037g0135 a0005c0004t0037g0135	1	224	0.0045	30	c.77- others(47): Show c.77-29430_77-29401dupATATATATATATATATATATATATATAT AT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMT2_chr7_112814147_112944875	112865667	C C	CATACATA others(23): Show CATACATATATTCATATATATTTTTTCATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00639.hp1 others(83): Show HG00099.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18970.hp1 NA19009.hp1 NA19056.hp1 NA19060.hp2 NA19076.hp1 NA19076.hp2 NA19082.hp2 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0055 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0002g0116 a0001c0001t0004g0040 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0009g0070 a0001c0001t0009g0088 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0091	86	206	0.4175	30	c.473 others(49): Show c.473+29901_473+29902insATATGAAAAAATATATATGAATATAT GTAT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
BNC2_chr9_16404503_16875670	16861181	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0174 a0001c0001t0008g0174	1	176	0.0057	30	c.3+9 others(43): Show c.3+9464_3+9465insATATATATATATATATATATATATATATAT	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
BNIP5_chr6_36310761_36341888	36324231	A A	AAATCTCT others(23): Show AAATCTCTTCTGCGGTCAGTCTTCATTTCCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	424	0.0024	30	c.116 others(45): Show c.1169-71_1169-42dupAGGAAATGAAGACTGACCGCAGAAGAGATT	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(23): Show ATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18942.hp2 NA18941.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0059 a0001c0001t0030g0046 a0001c0001t0001g0059 a0001c0001t0030g0046	2	386	0.0052	30	c.-81 others(49): Show c.-81-13416_-81-13415insCCCATGGGTATATATATATATATATA TATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	AAGAACAG others(23): Show AAGAACAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01928.hp1 HG02083.hp1 others(10): Show HG00140.hp1 HG01928.hp1 HG02083.hp1 HG02523.hp1 HG03139.hp2 HG04115.hp1 HG04204.hp1 NA18939.hp1 NA18983.hp2 NA18988.hp2 NA19054.hp2 NA19080.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0001c0021	a0001c0001t0001 a0001c0002t0002 a0001c0002t0017 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0022 a0001c0002t0034 a0001c0008t0004 a0001c0008t0028 a0001c0021t0001	a0001c0001t0001g0313 a0001c0002t0002g0032 a0001c0002t0002g0316 others(10): Show a0001c0001t0001g0313 a0001c0002t0002g0032 a0001c0002t0002g0316 a0001c0002t0002g0320 a0001c0002t0002g0333 a0001c0002t0017g0243 a0001c0002t0022g0261 a0001c0002t0034g0288 a0001c0008t0004g0039 a0001c0008t0004g0090 a0001c0008t0028g0225 a0001c0008t0028g0226 a0001c0021t0001g0071	13	386	0.0337	30	c.377 others(47): Show c.377-7575_377-7546dupAACAGAACAGAACAGAACAGAACAGAAC AG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAAAG others(23): Show ACAGAAAGAACAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0011 a0001c0018t0011	a0001c0018t0011g0149 a0001c0018t0011g0149	1	386	0.0026	30	c.377 others(47): Show c.377-7578_377-7577insCAGAAAGAACAGAACAGAACAGAACAGA AC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113260721	A A	ACAGAACA others(23): Show ACAGAACAGAAAGAACAGAACAGAACAGAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0042 a0001c0008t0004g0042	1	386	0.0026	30	c.377 others(47): Show c.377-7578_377-7577insCAGAACAGAAAGAACAGAACAGAACAGA AC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	4/19			chr3	TogoVar
BOC_chr3_113206557_113292459	113281964	G G	GATCCTGG others(23): Show GATCCTGGATCACCTGGATCACCTGGATCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0160 a0001c0001t0018g0160	1	386	0.0026	30	c.243 others(47): Show c.2434+811_2434+812insATCCTGGATCACCTGGATCACCTGGATC AC	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	15/19			chr3	TogoVar
BOK_chr2_241553745_241579131	241558052	G G	GAAACAGA others(23): Show GAAACAGACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01258.hp1 HG01261.hp2 others(23): Show HG01255.hp1 HG01258.hp1 HG01261.hp2 HG02071.hp2 HG02074.hp1 HG02615.hp2 HG02717.hp2 HG02970.hp2 HG03130.hp1 HG03669.hp1 NA18942.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18963.hp2 NA18993.hp1 NA19000.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19066.hp2 NA19068.hp2 NA19085.hp1 NA19087.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0049 a0001c0002t0001 a0001c0002t0009 a0002c0003t0003 a0003c0004t0005	a0001c0001t0001g0031 a0001c0001t0001g0116 a0001c0001t0001g0168 others(22): Show a0001c0001t0001g0031 a0001c0001t0001g0116 a0001c0001t0001g0168 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0003g0079 a0001c0001t0004g0025 a0001c0001t0005g0103 a0001c0001t0005g0106 a0001c0001t0005g0269 a0001c0001t0005g0276 a0001c0001t0005g0279 a0001c0001t0007g0054 a0001c0001t0007g0268 a0001c0001t0009g0055 a0001c0001t0013g0090 a0001c0001t0020g0035 a0001c0001t0035g0110 a0001c0001t0036g0080 a0001c0001t0037g0003 a0001c0001t0049g0077 a0001c0002t0001g0013 a0001c0002t0009g0060 a0002c0003t0003g0032 a0003c0004t0005g0052	26	434	0.0599	30	c.-97 others(39): Show c.-971_-970insAAACAGACACACACACACACACACACACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding		692		chr2	TogoVar
BOP1_chr8_144257045_144296438	144277790	G G	GGGCAGGG others(23): Show GGGCAGGGGCGGTGCGGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp2 HG02257.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0029 a0001c0002t0001g0037	2	398	0.0050	30	c.310 others(47): Show c.310-1487_310-1486insTGCACCGCCCCTGCCCGCACCGCCCCTG CC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144277805	G G	GGGCAGGG others(23): Show GGGCAGGGGCGGTGCAGGCAGGGGCGGTGCA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01433.hp2 HG01978.hp1 others(6): Show HG01099.hp2 HG01433.hp2 HG01978.hp1 HG02015.hp2 HG02155.hp1 HG03704.hp1 NA19057.hp2 NA19088.hp2 NA19090.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0005c0009 a0013c0026 a0001c0001 a0005c0009 a0013c0026	a0001c0001t0001 a0005c0009t0001 a0013c0026t0001 a0001c0001t0001 a0005c0009t0001 a0013c0026t0001	a0001c0001t0001g0058 a0001c0001t0001g0110 a0001c0001t0001g0141 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0110 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0285 a0005c0009t0001g0298 a0013c0026t0001g0111	9	398	0.0226	30	c.310 others(47): Show c.310-1502_310-1501insTGCACCGCCCCTGCCTGCACCGCCCCTG CC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144280973	A A	AATACCAG others(23): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	398	0.0025	30	c.310 others(47): Show c.310-4699_310-4670dupGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281033	A A	AATACCAG others(23): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0169 a0001c0003t0001g0170 a0001c0001t0001g0169 a0001c0003t0001g0170	2	398	0.0050	30	c.310 others(47): Show c.310-4730_310-4729insGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281076	C C	CGGCCTTC others(23): Show CGGCCTTCTCTCACTTTCATACCAGGTCTTA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19000.hp1 NA18940.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0291 a0001c0012t0001g0151 a0001c0001t0001g0291 a0001c0012t0001g0151	2	398	0.0050	30	c.310 others(47): Show c.310-4773_310-4772insTAAGACCTGGTATGAAAGTGAGAGAAGG CC	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281243	A A	AATACCAG others(23): Show AATACCAGGTCTTTGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	398	0.0025	30	c.310 others(47): Show c.310-4940_310-4939insGAAAGTGAGAGAAGGCCAAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281273	A A	AATACCAG others(23): Show AATACCAGGTCTTCGGCCTTCTCTCACTTTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	398	0.0025	30	c.310 others(47): Show c.310-4970_310-4969insGAAAGTGAGAGAAGGCCGAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281278	C C	CAGGTCTT others(23): Show CAGGTCTTAGGCCTTCTCTTACTTTAATACT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0151 a0001c0012t0001g0151	1	398	0.0025	30	c.310 others(47): Show c.310-4975_310-4974insAGTATTAAAGTAAGAGAAGGCCTAAGAC CT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281324	T T	TCTCAGTT others(23): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0039 a0001c0010t0001g0039	1	398	0.0025	30	c.310 others(47): Show c.310-5050_310-5021dupGGAAGGCCGAAGACCTGGTATTAAACTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281384	C C	CCTCACTT others(23): Show CCTCACTTTCATACCAGGTCTTTGGCCTTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA20300.hp1 HG01069.hp1 HG01071.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0019 a0002c0004t0001g0318 a0001c0001t0001g0019 a0002c0004t0001g0318	3	398	0.0075	30	c.310 others(47): Show c.310-5081_310-5080insAGAAGGCCAAAGACCTGGTATGAAAGTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281419	C C	CTTTAATA others(23): Show CTTTAATACCAGGTCTTCGGCCTTCCCTCAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0169 a0001c0003t0001g0170 a0001c0001t0001g0169 a0001c0003t0001g0170	2	398	0.0050	30	c.310 others(47): Show c.310-5116_310-5115insCTGAGGGAAGGCCGAAGACCTGGTATTA AA	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281444	T T	TCTCAGTT others(23): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG02145.hp1 HG02970.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0025 a0003c0005t0001g0026 a0003c0005t0001g0025 a0003c0005t0001g0026	2	398	0.0050	30	c.310 others(47): Show c.310-5141_310-5140insGGAAGGCCTAAGACCTGGTATTAAACTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281444	T T	TCTCAGTT others(23): Show TCTCAGTTTAATACCAGGTCTTCGGCCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	398	0.0025	30	c.310 others(47): Show c.310-5141_310-5140insGGAAGGCCGAAGACCTGGTATTAAACTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281474	T T	TCTCAGTT others(23): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0354	1	398	0.0025	30	c.310 others(47): Show c.310-5171_310-5170insGGAAGGCCTAAGACCTGGTATTAAACTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281483	C C	CATACCAG others(23): Show CATACCAGGTCTTAGGCCTTCTCTCACTTTA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0151 a0001c0012t0001g0151	1	398	0.0025	30	c.310 others(47): Show c.310-5180_310-5179insTAAAGTGAGAGAAGGCCTAAGACCTGGT AT	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281534	C C	CCTCACTT others(23): Show CCTCACTTTCATACCAGGTCTTTGGCCTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	398	0.0025	30	c.310 others(47): Show c.310-5231_310-5230insAGAAGGCCAAAGACCTGGTATGAAAGTG AG	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BORA_chr13_72722923_72761196	72724752	A A	ATATATAT others(23): Show ATATATATATATATATATATATGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	388	0.0026	30	c.-32 others(41): Show c.-3271_-3270insTATATATATATATATATATATGTGTGTGTG	BORA	ENSG00000136122.18	transcript	ENST00000390667.11	protein_coding		3170		chr13	TogoVar
BORCS7_chr10_102849259_102869961	102853688	G G	GTATATAT others(23): Show GTATATATATGTGTATATATATATATGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG02258.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0061 a0001c0001t0002g0062	2	454	0.0044	30	c.-59 others(39): Show c.-599_-598insTATATATATGTGTATATATATATATGTGTA	BORCS7	ENSG00000166275.16	transcript	ENST00000339834.10	protein_coding		570		chr10	TogoVar
BORCS8_chr19_19171906_19197152	19174385	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	428	0.0023	30	c.31 others(41): Show c.3117_*3118insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BORCS8	ENSG00000254901.8	transcript	ENST00000462790.8	protein_coding		2520		chr19	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG01952.hp2 others(1): Show HG00639.hp2 HG01123.hp2 HG01952.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0090 others(1): Show a0002c0002t0001g0066 a0002c0002t0001g0072 a0002c0002t0001g0090 a0002c0002t0001g0104	4	344	0.0116	30	c.182 others(47): Show c.1821+617_1821+618insTATATATATATATATATATATATATATA TA	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFB4_chr20_33074643_33116751	33108423	C C	CTATATAT others(23): Show CTATATATATATATGTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG02895.hp2 others(3): Show HG02615.hp1 HG02717.hp2 HG02895.hp2 HG03041.hp2 HG03225.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0050 a0005c0006t0001g0060 a0005c0006t0001g0171 others(3): Show a0005c0006t0001g0050 a0005c0006t0001g0060 a0005c0006t0001g0171 a0005c0006t0001g0174 a0005c0006t0001g0175 a0005c0006t0001g0263	6	344	0.0174	30	c.182 others(47): Show c.1821+616_1821+617insGTCTATATATATATATATATATATATAT AT	BPIFB4	ENSG00000186191.9	transcript	ENST00000375483.4	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
BPIFC_chr22_32408845_32469446	32424600	T T	TCTTCTTC others(23): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0178 a0003c0003t0001g0178	1	422	0.0024	30	c.121 others(49): Show c.1218-5197_1218-5196insGAGGAGAAGAAGAAGAAGAAGAAGAA GAAG	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPIFC_chr22_32408845_32469446	32436394	A A	AGAGGAGG others(23): Show AGAGGAGGAGGAGGAGGAGGAGGAGGAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	422	0.0024	30	c.748 others(45): Show c.748-515_748-514insCTTTTCCTCCTCCTCCTCCTCCTCCTCCTC	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	9/16			chr22	TogoVar
BPI_chr20_38299156_38342505	38339638	G G	GAAAAAAA others(23): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	426	0.0024	30	c.24 others(41): Show c.2454_*2455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BPI	ENSG00000101425.14	transcript	ENST00000642449.2	protein_coding		2134		chr20	TogoVar
BPNT2_chr8_56952931_56998867	56956044	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01106.hp1 others(5): Show HG00673.hp1 HG01070.hp1 HG01106.hp1 HG01123.hp2 HG01255.hp2 HG03927.hp1 NA18986.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0040 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0040 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0002g0212 a0001c0001t0002g0227 a0001c0001t0002g0230	8	356	0.0225	30	c.77 others(41): Show c.7748_*7749insATATATATATATATATATATATATATATAT	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding		1886		chr8	TogoVar
BPTF_chr17_67820503_67989378	67917130	C C	CATTGTCC others(23): Show CATTGTCCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0011 a0002c0006t0002g0011	1	274	0.0037	30	c.530 others(49): Show c.5304-1584_5304-1583insATTGTCCTTTTTTTTTTTTTTTTTTT TTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27			chr17	TogoVar
BPTF_chr17_67820503_67989378	67917131	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG04204.hp1 NA18980.hp2 HG02300.hp2 HG04204.hp1 NA18980.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0203 a0002c0002t0002g0229 a0002c0002t0007g0249 a0002c0002t0002g0203 a0002c0002t0002g0229 a0002c0002t0007g0249	3	274	0.0110	30	c.530 others(49): Show c.5304-1564_5304-1563insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	11/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAP_chr12_111637146_111690956	111667698	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG03688.hp2 HG01081.hp1 HG01891.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0241 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0241	3	364	0.0082	30	c.748 others(47): Show c.748-1912_748-1911insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BRAP	ENSG00000089234.16	transcript	ENST00000419234.9	protein_coding	5/11			chr12	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	424	0.0024	30	c.127 others(47): Show c.127+2198_127+2199insAATATATATATATATATATATATATATA TA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02698.hp1 HG04204.hp2 HG00408.hp2 HG02698.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151	3	424	0.0071	30	c.127 others(47): Show c.127+2198_127+2199insAAAATATATATATATATATATATATATA TA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRAT1_chr7_2532810_2560524	2552106	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	424	0.0024	30	c.127 others(47): Show c.127+2198_127+2199insAAAAAATATATATATATATATATATATA TA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding	2/13			chr7	TogoVar
BRCA1_chr17_43039295_43130364	43124345	T T	TGGGGAGG others(23): Show TGGGGAGGGGGGGGGGGGGGGTTGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0002 a0021c0028t0002	a0021c0028t0002g0099 a0021c0028t0002g0099	1	276	0.0036	30	c.-19 others(45): Show c.-19-231_-19-230insCCCCCCCCAACCCCCCCCCCCCCCCTCCCC	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	1/22			chr17	TogoVar
BRD4_chr19_15230519_15337539	15332501	A A	AGCCGCCG others(23): Show AGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0002 a0001c0001t0028g0002	1	208	0.0048	30	c.-27 others(39): Show c.-276_-247dupGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/20	59403		chr19	TogoVar
BRI3BP_chr12_124988645_125036231	124997214	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	410	0.0024	30	c.213 others(47): Show c.213+3230_213+3231insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BRI3BP	ENSG00000184992.13	transcript	ENST00000341446.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
BRI3_chr7_98276686_98296545	98280245	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	30	c.-15 others(41): Show c.-1551_-1550insATATATATATATATATATATATATATATAT	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		1440		chr7	TogoVar
BRINP1_chr9_119161629_119374435	119166767	T T	TTACAATT others(23): Show TTACAATTCATTGCATATGCTTTCTCCCTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0214 a0001c0003t0009g0214	1	236	0.0042	30	c.28 others(39): Show c.287_*316dupGAAGGGAGAAAGCATATGCAATGAATTGTA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	8/8	316		chr9	TogoVar
BRINP1_chr9_119161629_119374435	119367217	G G	GTGTGATA others(23): Show GTGTGATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0178 a0001c0003t0001g0178	1	236	0.0042	30	c.-51 others(47): Show c.-51+1838_-51+1839insATATATATATATATATATATATATATCA CA	BRINP1	ENSG00000078725.13	transcript	ENST00000265922.8	protein_coding	1/7			chr9	TogoVar

Search by Variant

Search

Search Results