Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LIPH_chr3_185501262_185557588	185529920	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0122 a0001c0001t0020g0122	1	358	0.0028	24	c.527 others(41): Show c.527-2336_527-2335insCTCTTTCTCTCTTTCTTTCTTTCT	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	3/9			chr3	TogoVar
LIPH_chr3_185501262_185557588	185538766	T T	TGTACATA others(17): Show TGTACATATATACACACATATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0096 a0001c0001t0003g0095 a0001c0001t0002g0096 a0001c0001t0003g0095	2	358	0.0056	24	c.50- others(39): Show c.50-3658_50-3635dupGTATATATGTGTGTATATATGTAC	LIPH	ENSG00000163898.10	transcript	ENST00000296252.9	protein_coding	1/9			chr3	TogoVar
LIPI_chr21_14103813_14215955	14213291	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0038 a0002c0002t0002g0038	1	362	0.0028	24	c.-24 others(35): Show c.-2447_-2446insGGAAGGAAGGAAGGAAGGAAGGAA	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding		2337		chr21	TogoVar
LIPM_chr10_88797730_88825546	88822544	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp2 HG02300.hp1 others(7): Show HG02056.hp1 HG02056.hp2 HG02300.hp1 HG02717.hp2 HG03239.hp2 HG03710.hp1 HG03710.hp2 NA18989.hp1 NA19030.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0108 a0001c0001t0001g0164 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0108 a0001c0001t0001g0164 a0001c0001t0001g0187 a0001c0002t0001g0001 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0096 a0001c0002t0001g0121	10	462	0.0217	24	c.20 others(35): Show c.2043_*2044insTTTTTTTTTTTTTTTTTTTTTTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding		1999		chr10	TogoVar
LLGL2_chr17_75520697_75580209	75546686	G G	GCGGAGGG others(17): Show GCGGAGGGCAGGTCCAACAGACAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01074.hp1 HG01257.hp2 others(9): Show HG00597.hp2 HG01074.hp1 HG01257.hp2 HG01258.hp2 HG02056.hp1 HG03927.hp1 NA18954.hp1 NA18962.hp2 NA18979.hp2 NA18982.hp2 NA19080.hp2 NA19088.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0003c0054 others(1): Show a0001c0001 a0003c0002 a0003c0054 a0004c0005	a0001c0001t0002 a0003c0002t0002 a0003c0054t0001 others(2): Show a0001c0001t0002 a0003c0002t0002 a0003c0054t0001 a0004c0005t0004 a0004c0005t0007	a0001c0001t0002g0354 a0001c0001t0002g0362 a0003c0002t0002g0227 others(9): Show a0001c0001t0002g0354 a0001c0001t0002g0362 a0003c0002t0002g0227 a0003c0002t0002g0314 a0003c0054t0001g0107 a0004c0005t0004g0355 a0004c0005t0004g0356 a0004c0005t0004g0359 a0004c0005t0004g0360 a0004c0005t0004g0361 a0004c0005t0007g0069 a0004c0005t0007g0106	12	382	0.0314	24	c.75+ others(39): Show c.75+3200_75+3201insACAGACAGACGGAGGGCAGGTCCA	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LLGL2_chr17_75520697_75580209	75546686	G G	GCGGAGGG others(17): Show GCGGAGGGCAGGTCCAGCAGACAGA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0268 a0003c0002t0002g0268	1	382	0.0026	24	c.75+ others(39): Show c.75+3209_75+3232dupACGGAGGGCAGGTCCAGCAGACAG	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LMAN2_chr5_177326567_177356668	177326869	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	376	0.0027	24	c.52 others(35): Show c.5216_*5217insTTCTCTTTCTTTCTTTCTTTCTTT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding		4697		chr5	TogoVar
LMBR1_chr7_156672791_156898183	156680399	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0131 a0001c0001t0062g0131	1	314	0.0032	24	c.36 others(35): Show c.3678_*3679insACACACACACACACACACACACAC	LMBR1	ENSG00000105983.23	transcript	ENST00000353442.10	protein_coding	17/17	3678		chr7	TogoVar
LMBR1_chr7_156672791_156898183	156680403	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0005 a0001c0001t0059g0005	1	314	0.0032	24	c.36 others(35): Show c.3674_*3675insACACACACACACTCTCTCTCTCTC	LMBR1	ENSG00000105983.23	transcript	ENST00000353442.10	protein_coding	17/17	3674		chr7	TogoVar
LMBR1_chr7_156672791_156898183	156891190	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0007 a0001c0001t0058g0007	1	314	0.0032	24	c.66+ others(39): Show c.66+1737_66+1738insTTTTTTTTTTTTTTTTTTTTTTTT	LMBR1	ENSG00000105983.23	transcript	ENST00000353442.10	protein_coding	1/16			chr7	TogoVar
LMBRD1_chr6_69669010_69802010	69774948	T T	TGGAAGGA others(17): Show TGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0317 a0002c0002t0002g0317	1	348	0.0029	24	c.307 others(41): Show c.307+5522_307+5545dupTTCCTTCCTTCCTTCCTTCCTTCC	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69774987	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp2 HG02273.hp1 others(1): Show HG00639.hp1 HG01175.hp2 HG02273.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0165 a0001c0001t0003g0181 a0001c0001t0003g0191 others(1): Show a0001c0001t0001g0165 a0001c0001t0003g0181 a0001c0001t0003g0191 a0001c0001t0003g0192	4	348	0.0115	24	c.307 others(41): Show c.307+5506_307+5507insCCCTCCCTCCCTTCCTTCCTTCCT	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69774987	A A	AAGGAAGG others(17): Show AAGGAAGGAAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03654.hp1 HG00738.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0003g0189 a0001c0001t0001g0081 a0001c0001t0003g0189	2	348	0.0058	24	c.307 others(41): Show c.307+5506_307+5507insCCCTCCCTCCCTCCCTTCCTTCCT	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMBRD1_chr6_69669010_69802010	69775033	G G	GGGAGGGA others(17): Show GGGAGGGAGGGAGGGAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	348	0.0029	24	c.307 others(41): Show c.307+5460_307+5461insTTCCCTCCCTCCCTCCCTCCCTCC	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	3/15			chr6	TogoVar
LMCD1_chr3_8496823_8579668	8501429	A A	ACAGCTCA others(17): Show ACAGCTCAGCATTTATTTCTGGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03704.hp1 HG02698.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0239 a0001c0002t0002g0240	2	314	0.0064	24	c.-51 others(33): Show c.-510_-509insCAGCTCAGCATTTATTTCTGGATC	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding		393		chr3	TogoVar
LMCD1_chr3_8496823_8579668	8543440	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	314	0.0032	24	c.388 others(41): Show c.388-5125_388-5124insTAGATAGATAGATAGATAGACAGA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(17): Show CAGTGGTGTCTCGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0292 a0001c0002t0011g0292	1	294	0.0034	24	c.153 others(43): Show c.1530-3024_1530-3023insTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857775	G G	GAGTGGTG others(17): Show GAGTGGTGTCAGGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	294	0.0034	24	c.153 others(43): Show c.1530-3070_1530-3069insGCACACCCGTCCCCTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857776	C C	CGTGGTGT others(17): Show CGTGGTGTCACGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0244 a0001c0023t0001g0244	1	294	0.0034	24	c.153 others(43): Show c.1530-3071_1530-3070insTGCACACCCGTCCCGTGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857961	C C	CAGTGGTG others(17): Show CAGTGGTGTCTCGGGATGGGTGTGA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG03195.hp1 HG00733.hp1 HG01243.hp1 HG03195.hp1	a0007 a0014 a0007 a0014	a0007c0028 a0014c0040 a0007c0028 a0014c0040	a0007c0028t0004 a0014c0040t0004 a0007c0028t0004 a0014c0040t0004	a0007c0028t0004g0017 a0007c0028t0004g0265 a0014c0040t0004g0270 a0007c0028t0004g0017 a0007c0028t0004g0265 a0014c0040t0004g0270	3	294	0.0102	24	c.153 others(43): Show c.1530-3256_1530-3255insTCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858122	G G	GAGTGGTG others(17): Show GAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	294	0.0034	24	c.153 others(43): Show c.1530-3417_1530-3416insGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858122	G G	GAGTGGTG others(17): Show GAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp2 HG02109.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0024 a0001c0002t0001g0021 a0001c0001t0001g0024 a0001c0002t0001g0021	2	294	0.0068	24	c.153 others(43): Show c.1530-3417_1530-3416insGCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858168	G G	GAGTGGTG others(17): Show GAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02698.hp2 HG01168.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0229 a0001c0008t0002g0071 a0001c0001t0002g0229 a0001c0008t0002g0071	2	294	0.0068	24	c.153 others(43): Show c.1530-3463_1530-3462insGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858168	G G	GAGTGGTG others(17): Show GAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	294	0.0034	24	c.153 others(43): Show c.1530-3463_1530-3462insGCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858169	C C	CAGTGGTG others(17): Show CAGTGGTGTCTCGGGATGGGTGTGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0003 a0008c0036t0003	a0008c0036t0003g0277 a0008c0036t0003g0277	1	294	0.0034	24	c.153 others(43): Show c.1530-3464_1530-3463insTCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858178	A A	ACGGGATG others(17): Show ACGGGATGGGTGTGCAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	294	0.0034	24	c.153 others(43): Show c.1530-3473_1530-3472insAGACACCACTGCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858215	C C	CAGTGGTG others(17): Show CAGTGGTGTCTCGGGATGGGTGTGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	294	0.0034	24	c.153 others(43): Show c.1530-3510_1530-3509insTCACACCCATCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858325	T T	TGGGTGTG others(17): Show TGGGTGTGCAGTGGTGTCTCGGGAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	294	0.0034	24	c.153 others(43): Show c.1530-3620_1530-3619insGTCCCGAGACACCACTGCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858389	T T	TCGGGACG others(17): Show TCGGGACGGGTGTGCAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	294	0.0034	24	c.153 others(43): Show c.1530-3684_1530-3683insTGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858716	T T	TCGGGACG others(17): Show TCGGGACGGGTGTGCAGTGTTGTCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00673.hp2 others(9): Show HG00423.hp1 HG00609.hp1 HG00673.hp2 HG01081.hp1 HG01952.hp2 HG02040.hp1 HG02273.hp1 HG02300.hp1 HG03490.hp1 NA18967.hp2 NA19009.hp2 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0003c0015	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0003c0015t0001	a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0003t0001g0180 others(9): Show a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0003t0001g0180 a0001c0003t0001g0195 a0001c0003t0001g0237 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0010t0001g0115 a0001c0011t0001g0155 a0001c0011t0001g0157 a0001c0011t0001g0158 a0003c0015t0001g0014	12	294	0.0408	24	c.153 others(43): Show c.1530-4011_1530-4010insTGACAACACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858799	G G	GAGTGATG others(17): Show GAGTGATGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0071 a0001c0008t0002g0071	1	294	0.0034	24	c.153 others(43): Show c.1530-4094_1530-4093insGCACACCCGTCCCGTGACATCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858827	G G	GTGTCACG others(17): Show GTGTCACGGGATGGGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0015 a0005c0034t0015	a0005c0034t0015g0274 a0005c0034t0015g0274	1	294	0.0034	24	c.153 others(43): Show c.1530-4122_1530-4121insTCACTGCACACCCATCCCGTGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858845	G G	GACTGGTG others(17): Show GACTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0060 a0005c0019t0001g0060	1	294	0.0034	24	c.153 others(43): Show c.1530-4140_1530-4139insGCACACCCGTCCCGTGACACCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858934	G G	GGTGTGCA others(17): Show GGTGTGCAGTGGTGTCACGGGACGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	294	0.0034	24	c.153 others(43): Show c.1530-4229_1530-4228insGCGTCCCGTGACACCACTGCACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858982	G G	GGTGTGCA others(17): Show GGTGTGCAGTGGTGTCACGGGACGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(14): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG01123.hp2 HG01515.hp2 HG01928.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02738.hp2 HG03942.hp2 NA18943.hp2 NA18948.hp2 NA18995.hp1 NA19012.hp1 NA19066.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0005 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0005 a0001c0013t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0173 others(14): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0205 a0001c0001t0001g0226 a0001c0001t0001g0239 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0003t0005g0146 a0001c0013t0001g0046 a0001c0013t0001g0220	17	294	0.0578	24	c.153 others(43): Show c.1530-4300_1530-4277dupGCGTCCCGTGACACCACTGCACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859006	C C	CGTGTGCA others(17): Show CGTGTGCAGTGGTGTCACGGGACGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0244 a0001c0023t0001g0244	1	294	0.0034	24	c.153 others(43): Show c.1530-4324_1530-4301dupCCGTCCCGTGACACCACTGCACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859068	A A	ACGGGACG others(17): Show ACGGGACGGGTGTGCAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0002 a0001c0060t0002	a0001c0060t0002g0128 a0001c0060t0002g0128	1	294	0.0034	24	c.153 others(43): Show c.1530-4363_1530-4362insAGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859086	G G	GTGTCTCG others(17): Show GTGTCTCGGGACGGGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18522.hp2 HG00738.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0101 a0001c0012t0001g0098 a0001c0012t0001g0101	2	294	0.0068	24	c.153 others(43): Show c.1530-4404_1530-4381dupTCACTGCACACCCGTCCCGAGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859228	G G	GTGTCACG others(17): Show GTGTCACGGGACGGGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	294	0.0034	24	c.153 others(43): Show c.1530-4523_1530-4522insTCACTGCACACCCGTCCCGTGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859423	T T	TCGGGACG others(17): Show TCGGGACGGGTGTGCAGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	294	0.0034	24	c.153 others(43): Show c.1530-4718_1530-4717insTGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859711	A A	ATGGGTGT others(17): Show ATGGGTGTGCAGTGGTGTCTCGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0087 a0001c0004t0001g0087	1	294	0.0034	24	c.153 others(43): Show c.1530-5006_1530-5005insCCCCGAGACACCACTGCACACCCA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859832	G G	GTTGTGCA others(17): Show GTTGTGCAGTGGTGTCACGGGATGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0282 a0001c0006t0002g0282	1	294	0.0034	24	c.153 others(43): Show c.1530-5127_1530-5126insGCATCCCGTGACACCACTGCACAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMNA_chr1_156109711_156142866	156140160	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG02015.hp2 others(10): Show HG00544.hp1 HG00621.hp2 HG02015.hp2 HG02027.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02965.hp1 NA18747.hp2 NA18971.hp1 NA18989.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0004t0001g0073	13	286	0.0455	24	c.23 others(35): Show c.2396_*2397insACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000677389.1	protein_coding		2295		chr1	TogoVar
LMNA_chr1_156109711_156145081	156140160	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG02015.hp2 others(9): Show HG00544.hp1 HG00621.hp2 HG02015.hp2 HG02027.hp2 HG02155.hp2 HG02300.hp1 HG02965.hp1 NA18747.hp2 NA18971.hp1 NA18989.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0004t0001g0072	12	286	0.0420	24	c.10 others(35): Show c.1054_*1055insACACACACACACACACACACACAC	LMNA	ENSG00000160789.24	transcript	ENST00000368300.9	protein_coding		80		chr1	TogoVar
LMNB1_chr5_126772136_126842020	126800981	A A	ATATATAT others(17): Show ATATATATATATATAATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 NA18949.hp2 HG02615.hp1 NA18522.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0242 a0001c0001t0001g0319 a0001c0001t0003g0314 a0001c0001t0001g0242 a0001c0001t0001g0319 a0001c0001t0003g0314	3	374	0.0080	24	c.360 others(41): Show c.360-3795_360-3794insTATATATATATATAATTTTTTTTT	LMNB1	ENSG00000113368.12	transcript	ENST00000261366.10	protein_coding	1/10			chr5	TogoVar
LMNB2_chr19_2423166_2461959	2450091	A A	AATACATA others(17): Show AATACATATACATATACATATACAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	356	0.0028	24	c.265 others(41): Show c.265-5552_265-5551insATGTATATGTATATGTATATGTAT	LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	1/11			chr19	TogoVar
LMO2_chr11_33853576_33897076	33880162	C C	CATGATAT others(17): Show CATGATATATACACATGATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00621.hp2 others(39): Show HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01978.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18943.hp1 NA18945.hp2 NA18952.hp1 NA18965.hp2 NA18970.hp1 NA18998.hp2 NA19001.hp2 NA19011.hp1 NA19012.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0015 a0001c0002t0018 a0001c0007t0011	a0001c0001t0001g0218 a0001c0001t0001g0243 a0001c0001t0001g0261 others(38): Show a0001c0001t0001g0218 a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0397 a0001c0001t0001g0399 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0089 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0144 a0001c0001t0010g0088 a0001c0001t0010g0090 a0001c0001t0010g0126 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0005g0014 a0001c0002t0005g0042 a0001c0002t0005g0122 a0001c0002t0008g0091 a0001c0002t0008g0186 a0001c0002t0015g0069 a0001c0002t0015g0184 a0001c0002t0018g0341 a0001c0002t0018g0370 a0001c0007t0011g0064	42	442	0.0950	24	c.-27 others(43): Show c.-272+1661_-272+1662insATATATATCATGTGTATATATCAT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5			chr11	TogoVar
LMO2_chr11_33853576_33897076	33880162	C C	CATGGTAT others(17): Show CATGGTATATACACATGATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	442	0.0023	24	c.-27 others(43): Show c.-272+1661_-272+1662insATATATATCATGTGTATATACCAT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5			chr11	TogoVar
LMO2_chr11_33853576_33897076	33880167	G G	GATATATA others(17): Show GATATATACACATGATATATATATC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp2 HG03098.hp1 HG02109.hp1 HG02818.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0007 a0001c0002t0008	a0001c0002t0007g0287 a0001c0002t0008g0193 a0001c0002t0008g0201 a0001c0002t0007g0287 a0001c0002t0008g0193 a0001c0002t0008g0201	3	442	0.0068	24	c.-27 others(43): Show c.-272+1633_-272+1656dupGATATATATATCATGTGTATATAT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5			chr11	TogoVar
LMO2_chr11_33853576_33897076	33880230	T T	TATATATA others(17): Show TATATATATATCATATATACACATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	442	0.0023	24	c.-27 others(43): Show c.-272+1593_-272+1594insCATGTGTATATATGATATATATAT	LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5			chr11	TogoVar

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