Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LAMA5_chr20_62304065_62372312	62360462	T T	TCAGCAGG others(20): Show TCAGCAGGCAGCGGGATGGGATAGGATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0076 a0076	a0076c0111 a0076c0111	a0076c0111t0001 a0076c0111t0001	a0076c0111t0001g0116 a0076c0111t0001g0116	1	186	0.0054	27	c.450 others(44): Show c.450+1937_450+1938insTATCCTATCCCATCCCGCTGCCTGCTG	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMB4_chr7_108018553_108135361	108025389	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0017 a0001 a0017	a0001c0070 a0017c0043 a0001c0070 a0017c0043	a0001c0070t0001 a0017c0043t0001 a0001c0070t0001 a0017c0043t0001	a0001c0070t0001g0246 a0017c0043t0001g0084 a0001c0070t0001g0246 a0017c0043t0001g0084	2	292	0.0069	27	c.514 others(46): Show c.5147-1212_5147-1211insGAAAGAAAGAAAGAAAGAAAGAAAGA A	LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	33/33			chr7	TogoVar
LAMC1_chr1_183018420_183150592	183149881	C C	CCTCACAC others(20): Show CCTCACACACCACACAGCCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG01167.hp2 others(22): Show HG00597.hp2 HG00735.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG02004.hp2 HG02015.hp2 HG02148.hp1 HG03831.hp2 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18955.hp2 NA18973.hp2 NA18994.hp1 NA19006.hp2 NA19056.hp1 NA19058.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp2	a0001 a0016 a0001 a0016	a0001c0002 a0001c0003 a0016c0041 a0001c0002 a0001c0003 a0016c0041	a0001c0002t0002 a0001c0003t0003 a0001c0003t0008 others(4): Show a0001c0002t0002 a0001c0003t0003 a0001c0003t0008 a0001c0003t0018 a0001c0003t0025 a0001c0003t0031 a0016c0041t0003	a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 others(20): Show a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0003t0003g0003 a0001c0003t0003g0004 a0001c0003t0003g0263 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0276 a0001c0003t0003g0280 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0287 a0001c0003t0003g0296 a0001c0003t0003g0298 a0001c0003t0003g0299 a0001c0003t0008g0267 a0001c0003t0008g0268 a0001c0003t0008g0290 a0001c0003t0018g0279 a0001c0003t0025g0266 a0001c0003t0031g0278 a0016c0041t0003g0302	25	308	0.0812	27	c.70 others(38): Show c.7091_*7092insCTCACACACCACACAGCCCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4290		chr1	TogoVar
LAMC1_chr1_183018420_183150592	183150076	C C	CCTCACAC others(20): Show CCTCACACACCACACAGCCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 NA18948.hp2 NA19000.hp2 others(1): Show HG03834.hp2 NA18948.hp2 NA19000.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0060 a0001c0003t0003g0259 a0001c0003t0003g0300 others(1): Show a0001c0002t0002g0060 a0001c0003t0003g0259 a0001c0003t0003g0300 a0001c0003t0003g0301	4	308	0.0130	27	c.72 others(38): Show c.7286_*7287insCTCACACACCACACAGCCCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		4485		chr1	TogoVar
LAMC3_chr9_131004174_131099473	131047165	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01358.hp2 HG02615.hp1 HG00099.hp2 HG01358.hp2 HG02615.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0004 a0007c0030 a0011c0053 a0001c0004 a0007c0030 a0011c0053	a0001c0004t0001 a0007c0030t0002 a0011c0053t0001 a0001c0004t0001 a0007c0030t0002 a0011c0053t0001	a0001c0004t0001g0344 a0007c0030t0002g0330 a0011c0053t0001g0292 a0001c0004t0001g0344 a0007c0030t0002g0330 a0011c0053t0001g0292	3	360	0.0083	27	c.151 others(46): Show c.1519+1522_1519+1523insTTTTTTTTTTTTTTTTTTTTTTTTTT T	LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0260 a0001c0003t0001g0260	1	372	0.0027	27	c.888 others(44): Show c.888+2800_888+2801insATATATATATATATATATATATATTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAPTM4A_chr2_20027650_20056628	20047696	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAGAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(65): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00735.hp2 HG01243.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02698.hp1 HG03017.hp2 HG03239.hp1 HG03492.hp1 HG03654.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18961.hp1 NA18963.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18981.hp2 NA18995.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0020 others(16): Show a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0130 a0002c0004t0001g0112 a0002c0004t0001g0118 a0002c0004t0001g0122	68	424	0.1604	27	c.111 others(44): Show c.111+3713_111+3714insCTTTTTTCTTTTTTTTTTTTTTTTTTT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01192.hp1 others(6): Show HG00642.hp1 HG01081.hp1 HG01192.hp1 HG01517.hp2 HG02055.hp2 HG02886.hp2 NA18906.hp2 NA18956.hp2 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0002c0003t0005	a0001c0001t0001g0300 a0001c0001t0002g0345 a0001c0001t0002g0368 others(6): Show a0001c0001t0001g0300 a0001c0001t0002g0345 a0001c0001t0002g0368 a0001c0001t0003g0086 a0001c0001t0003g0297 a0001c0001t0006g0128 a0001c0001t0011g0280 a0001c0001t0022g0133 a0002c0003t0005g0127	9	380	0.0237	27	c.603 others(44): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LAPTM5_chr1_30727469_30762774	30728791	C C	CCCAGCAC others(20): Show CCCAGCACATAGAGCAGAGGAAGCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0129 a0002c0003t0003g0129	1	421	0.0024	27	c.50 others(38): Show c.5036_*5037insTGCTGCTTCCTCTGCTCTATGTGCTGG	LAPTM5	ENSG00000162511.8	transcript	ENST00000294507.4	protein_coding		3677		chr1	TogoVar
LARGE1_chr22_33267509_33925476	33865832	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0073 a0001c0001t0010g0073	1	110	0.0091	27	c.-83 others(46): Show c.-83+54136_-83+54162dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14			chr22	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG01074.hp2 others(8): Show HG00438.hp2 HG00597.hp1 HG01074.hp2 HG01081.hp2 HG01516.hp1 HG01517.hp1 HG02083.hp1 HG02622.hp1 NA18982.hp1 NA18989.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0015 a0002c0002t0002g0035 a0002c0002t0002g0037 others(8): Show a0002c0002t0002g0015 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0062 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0079 a0002c0002t0002g0084 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0008g0304	11	336	0.0327	27	c.988 others(44): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4B_chr10_804497_936705	931968	T T	TCCGCCCC others(20): Show TCCGCCCCGCCCGCCCCGCCCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	288	0.0035	27	c.-58 others(36): Show c.-581_-580insGCGGGGCGGGCGGGGCGGGCGGGGCGG	LARP4B	ENSG00000107929.16	transcript	ENST00000316157.8	protein_coding		264		chr10	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18967.hp1 NA18979.hp2 HG00642.hp1 NA18967.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0256 a0001c0001t0001g0277 a0002c0002t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0277 a0002c0002t0001g0253	3	318	0.0094	27	c.804 others(44): Show c.804+4787_804+4788insATATATATATATATATATATATATATT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446429	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19000.hp1 HG01884.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0289 a0001c0001t0001g0297	2	318	0.0063	27	c.804 others(44): Show c.804+4787_804+4788insATATATATATATATATATATATATTTT	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446430	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18999.hp2 NA19078.hp1 others(1): Show HG02523.hp1 NA18999.hp2 NA19078.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0282 others(1): Show a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0282 a0001c0001t0001g0291	4	318	0.0126	27	c.804 others(44): Show c.804+4787_804+4788insATATATATATATATATATATATATATA	LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15			chr12	TogoVar
LARS2_chr3_45383576_45554407	45484626	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	242	0.0041	27	c.101 others(46): Show c.1019-1066_1019-1065insTATATATATATATATATATATATATA T	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484628	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02071.hp2 HG02155.hp2 HG01928.hp2 HG02071.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0015 a0001c0005t0001g0012 a0001c0005t0001g0021 a0001c0001t0001g0015 a0001c0005t0001g0012 a0001c0005t0001g0021	3	242	0.0124	27	c.101 others(46): Show c.1019-1064_1019-1063insTATATATATATATATATATATATATA T	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	242	0.0041	27	c.101 others(46): Show c.1019-1061_1019-1060insAAAAAAATATATATATATATATATAT A	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	242	0.0041	27	c.101 others(46): Show c.1019-1061_1019-1060insAAATATATATATATATATATATATAT A	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp1 NA18941.hp2 others(2): Show HG00558.hp2 HG00738.hp1 NA18941.hp2 NA19063.hp2 NA19087.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0016 a0001c0001 a0006c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0006c0016t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0003g0155 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0003g0155 a0001c0001t0004g0176 a0006c0016t0001g0052	5	242	0.0207	27	c.101 others(46): Show c.1019-1061_1019-1060insATATATATATATATATATATATATAT A	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
LARS2_chr3_45383576_45554407	45484630	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02257.hp2 HG00735.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0001 a0001c0018t0001 a0001c0002t0001 a0001c0018t0001	a0001c0002t0001g0232 a0001c0018t0001g0004 a0001c0002t0001g0232 a0001c0018t0001g0004	2	242	0.0083	27	c.101 others(46): Show c.1019-1062_1019-1061insTATATATATATATATATATATATATA T	LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	10/21			chr3	TogoVar
LAS1L_chrX_65507582_65539787	65525765	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	203	0.0049	27	c.957 others(42): Show c.957-716_957-715insCTTTTTTTTTTTTTTTTTTTTTTTTTT	LAS1L	ENSG00000001497.18	transcript	ENST00000374811.8	protein_coding	7/13			chrX	TogoVar
LAT2_chr7_74205006_74234834	74214663	T T	TATATATA others(20): Show TATATATATAAATATATATATGAAAATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	344	0.0029	27	c.-21 others(44): Show c.-218-139_-218-113dupTGAAAATAATATATATAAATATATATA	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS2_chr13_20968036_21066586	20969697	A A	AAAAAAAA others(20): Show AAAAAAAAAAAATTATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0046 a0003c0007t0008g0046	1	316	0.0032	27	c.51 others(38): Show c.5172_*5173insATATATATATATATAATTTTTTTTTTT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding		3338		chr13	TogoVar
LATS2_chr13_20968036_21066586	21007683	G G	GTGTGTAT others(20): Show GTGTGTATATATATATAGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02738.hp1 HG03490.hp1 others(3): Show HG02735.hp2 HG02738.hp1 HG03490.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0021 a0004c0004t0005 a0004c0004t0021	a0004c0004t0005g0204 a0004c0004t0005g0229 a0004c0004t0005g0230 others(3): Show a0004c0004t0005g0204 a0004c0004t0005g0229 a0004c0004t0005g0230 a0004c0004t0005g0253 a0004c0004t0021g0254 a0004c0004t0021g0260	6	316	0.0190	27	c.343 others(46): Show c.343-16280_343-16279insTATATATACACTATATATATATACAC A	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(20): Show GTGTATATATATATATATATAGTGTATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	316	0.0032	27	c.343 others(46): Show c.343-16297_343-16296insTATACACTATATATATATATATATAC A	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21007700	G G	GTGTATAT others(20): Show GTGTATATATATATATATATAGTGTGTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02630.hp2 HG01099.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0172 a0003c0003t0002g0173	2	316	0.0063	27	c.343 others(46): Show c.343-16297_343-16296insTACACACTATATATATATATATATAC A	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LATS2_chr13_20968036_21066586	21023495	C C	CCTCTGTT others(20): Show CCTCTGTTCTCGAGGCGGGGCCAGGACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0087 a0002c0002t0023g0087	1	316	0.0032	27	c.342 others(46): Show c.342+22163_342+22189dupAGTCCTGGCCCCGCCTCGAGAACAGA G	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LAX1_chr1_203760183_203781372	203770433	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	422	0.0024	27	c.90- others(40): Show c.90-395_90-394insGAGAGAGAGAGAGAGAGAGAGAGAGAG	LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4			chr1	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02148.hp2 NA18985.hp1 others(2): Show HG01993.hp1 HG02148.hp2 NA18985.hp1 NA19005.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0037 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0050	5	340	0.0147	27	c.-10 others(40): Show c.-10-96_-10-95insATATATATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19009.hp2 NA19077.hp1 HG02300.hp1 NA19009.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0061	3	340	0.0088	27	c.-10 others(40): Show c.-10-96_-10-95insAAATATATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5L_chr21_39400728_39450778	39428598	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19003.hp2 NA18991.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0136 a0001c0001t0001g0023 a0001c0001t0001g0136	2	340	0.0059	27	c.-10 others(40): Show c.-10-96_-10-95insAAAAATATATATATATATATATATATA	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCA5L_chr21_39400728_39450778	39428599	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01975.hp2 NA18952.hp2 others(4): Show HG01358.hp1 HG01975.hp2 NA18952.hp2 NA18960.hp1 NA18970.hp2 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0148	7	340	0.0206	27	c.-10 others(40): Show c.-10-97_-10-96insTATATATATATATATATATATATATAT	LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	4/10			chr21	TogoVar
LCMT2_chr15_43318649_43335573	43334664	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02080.hp2 NA18987.hp2 HG00673.hp2 HG02080.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0023 a0001c0002t0005 a0001c0001t0003 a0001c0001t0023 a0001c0002t0005	a0001c0001t0003g0000 a0001c0001t0023g0000 a0001c0002t0005g0000 a0001c0001t0003g0000 a0001c0001t0023g0000 a0001c0002t0005g0000	3	410	0.0073	27	c.-41 others(38): Show c.-4176_-4175insTATATATATATATATATATATATATAT	LCMT2	ENSG00000168806.8	transcript	ENST00000305641.7	protein_coding		4092		chr15	TogoVar
LCN12_chr9_136947273_136960497	136950236	T T	TGTCCGGG others(20): Show TGTCCGGGAGGCTCCTGCAGGGGACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	382	0.0026	27	c.-20 others(38): Show c.-2092_-2091insGTCCGGGAGGCTCCTGCAGGGGACGTG	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding		2036		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769198	T T	TGCCACCC others(20): Show TGCCACCCCCCCATGCACTGCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	356	0.0028	27	c.-47 others(38): Show c.-4711_-4710insGGGGGGGGCAGTGCATGGGGGGGTGGC	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4681		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769269	T T	TCCATGCA others(20): Show TCCATGCACTGCCCCCCCCGCCACCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02080.hp2 NA19078.hp1 HG02027.hp1 HG02080.hp2 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0002 a0002c0002t0001g0014	3	356	0.0084	27	c.-47 others(38): Show c.-4782_-4781insGGGGGTGGCGGGGGGGGCAGTGCATGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4752		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769279	G G	GCCCCCCC others(20): Show GCCCCCCCGCCACCCCCCCATGCACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18957.hp2 HG00423.hp1 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0031 a0002c0004t0001g0010 a0002c0002t0001g0031 a0002c0004t0001g0010	2	356	0.0056	27	c.-47 others(38): Show c.-4792_-4791insGCAGTGCATGGGGGGGTGGCGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4762		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769279	G G	GCCCCCCG others(20): Show GCCCCCCGCCACCCCCCCCATGCACTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	356	0.0028	27	c.-47 others(38): Show c.-4792_-4791insGCAGTGCATGGGGGGGGTGGCGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4762		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769290	A A	ACCCCCCC others(20): Show ACCCCCCCATGCACTGCCCCCCCGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0010 a0002c0004t0001g0010	1	356	0.0028	27	c.-48 others(38): Show c.-4803_-4802insGTGGCGGGGGGGCAGTGCATGGGGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4773		chr9	TogoVar
LDLRAD4_chr18_13213760_13657751	13578827	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18980.hp2 HG00099.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0097 a0001c0001t0028g0144 a0001c0001t0001g0097 a0001c0001t0028g0144	2	178	0.0112	27	c.182 others(46): Show c.182-42288_182-42262dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLR_chr19_11084463_11138820	11122395	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp2 HG02129.hp2 HG01167.hp2 HG01496.hp2 HG02129.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0004 a0001c0006t0006 a0001c0004t0004 a0001c0006t0006	a0001c0004t0004g0196 a0001c0006t0006g0083 a0001c0006t0006g0327 a0001c0004t0004g0196 a0001c0006t0006g0083 a0001c0006t0006g0327	3	358	0.0084	27	c.214 others(44): Show c.2141-757_2141-756insTTTTTTTTTTTTTTTTTTTTTTTTTTT	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
LEO1_chr15_51933025_51976778	51961352	A A	AGGTGGTG others(20): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02056.hp1 NA18939.hp2 others(16): Show HG01257.hp2 HG02056.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18954.hp1 NA18964.hp1 NA18966.hp1 NA18979.hp2 NA18987.hp1 NA19003.hp1 NA19009.hp2 NA19012.hp2 NA19064.hp1 NA19072.hp1 NA19077.hp1 NA19080.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0169 a0001c0002t0001g0287 others(15): Show a0001c0002t0001g0037 a0001c0002t0001g0169 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0295 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0308	19	388	0.0490	27	c.920 others(42): Show c.920-646_920-620dupACCACCACCACCACCACCACCACCACC	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding	3/11			chr15	TogoVar
LEPR_chr1_65415668_65646559	65488193	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0043 a0003c0004t0006g0043	1	216	0.0046	27	c.-21 others(46): Show c.-21+62827_-21+62828insCTCTCTCTCTCTCTCTTCTTTCTTTC T	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LETM1_chr4_1806479_1861156	1860697	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0003 a0005c0005t0004g0003	1	200	0.0050	27	c.-47 others(38): Show c.-4748_-4747insAAAAAAATATATATATATATATATATA	LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding		4542		chr4	TogoVar
LGMN_chr14_92698809_92753627	92719257	A A	ACCACCGC others(20): Show ACCACCGCCACCGCCACCGCCGCCACCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	420	0.0024	27	c.139 others(42): Show c.139-414_139-413insCGGTGGCGGCGGTGGCGGTGGCGGTGG	LGMN	ENSG00000100600.15	transcript	ENST00000334869.9	protein_coding	2/13			chr14	TogoVar
LHCGR_chr2_48681774_48760724	48717542	C C	CTTATTAT others(20): Show CTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	374	0.0027	27	c.537 others(44): Show c.537-3489_537-3488insTAATAATAATAATAATAATAATAATAA	LHCGR	ENSG00000138039.15	transcript	ENST00000294954.12	protein_coding	6/10			chr2	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	254	0.0039	27	c.-34 others(38): Show c.-3435_-3434insTTTTTTTTTTTTTTTTTTTTTTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding		2812		chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104614653	C C	CTTCTCTT others(20): Show CTTCTCTTCTCTTCTCTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	86	0.0116	27	c.446 others(48): Show c.446-122021_446-122020insTCTCTTCTCTTCTCTCCTTCCTTC CTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL4_chr3_9493361_9558822	9556817	A A	AAGAAGAA others(20): Show AAGAAGAAGAAAGAAAGAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0323 a0001c0001t0026g0323	1	360	0.0028	27	c.-33 others(38): Show c.-3302_-3301insCTTTCTTTCTTCTTTCTTTCTTCTTCT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		2996		chr3	TogoVar

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Search Results (Total: 7463 hits)