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
MN1_chr22_27743277_27806756	27805703	A A	ACACACAC others(93): Show ACACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTCAGCA CACACACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTCA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02738.hp1 HG02809.hp2 others(1): Show HG01934.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0044 a0001c0001t0046 a0001c0001t0025 a0001c0001t0044 a0001c0001t0046	a0001c0001t0025g0039 a0001c0001t0025g0041 a0001c0001t0044g0040 others(1): Show a0001c0001t0025g0039 a0001c0001t0025g0041 a0001c0001t0044g0040 a0001c0001t0046g0038	4	394	0.0102	100	c.-51 others(111): Show c.-5161_-5160insCTGACATAGCCACACGCTATGGAGGTGTATATGT GTGTGTGTGTGTGTGTGTGCTGACATAGCCACACGCTATGGAGGTGTATA TGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3948		chr22	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATATATGTATATATATATATATATATA TATATATATATATATATGTATATATATATATATATATATATGTATATATA T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0314 a0001c0001t0003g0314	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATACATATATATATATATATAT ATATACATATATATATATATATATATATATATATATATATATACATATAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATATATGTATATATATATATATATATA TATATATATATGTATATATATATATATATATATATGTATATATATATATA T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0156 a0001c0001t0021g0156	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATATATACATATATATATAT ATATATATATACATATATATATATATATATATATATATATATACATATAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATACATATATATATATATA TATATATATATATGTATATATATATATATATATATATATGTATATATATA T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0171 a0001c0001t0175g0171	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATACATATATATATATATAT ATATATATACATATATATATATATATATATATATATATGTATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATATATATATGTATATATATATATATATATGTATATATA T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0229 a0001c0001t0037g0229	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATACATATATATATATATATAT ACATATATATATATATATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATGTATATACATATATATATATATATATGTATATATATA T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0159 a0001c0001t0159	a0001c0001t0159g0097 a0001c0001t0159g0097	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATACATATATATATATATAT ATGTATATACATATATATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATGTATATATATATATATATATATATATGTATATATATA T	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19043.hp2 HG01496.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0186 a0001c0001t0118 a0001c0001t0186	a0001c0001t0118g0175 a0001c0001t0186g0094 a0001c0001t0118g0175 a0001c0001t0186g0094	2	320	0.0063	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATACATATATATATATATAT ATATATATACATATATATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATGTATATATATATATATATATATGTATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0012 a0001c0001t0052g0012	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATATATATACATATATATAT ATATATATATACATATATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATGTGTATATATATATATATATATATGTATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0283 a0001c0001t0041g0283	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATATATACATATATATATAT ATATATATACACATATATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATGTATATATATATATATATATATATATATGTATATATATATA T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0084 a0001c0001t0077g0084	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATATACATATATATATATAT ATATATATATATACATATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATGTATATATATATATATATATATATGTATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0093 a0001c0001t0028g0093	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATATATATACATATATATAT ATATATATATATACATATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATGTATATATATATATATATATATATATATGTATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02155.hp2 HG00597.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0165 a0001c0001t0031g0139 a0001c0001t0001g0165 a0001c0001t0031g0139	2	320	0.0063	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATATATACATATATATATAT ATATATATATATATACATATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(93): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATGTATATATATATATATATATATATGTATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0109 a0001c0001t0170g0109	1	320	0.0031	100	c.621 others(117): Show c.621+1912_621+1913insATATATATATATATATATATACATATAT ATATATATATATATATACATATATATATATATATATATATATATATACAT ATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(93): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCA G	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19063.hp2 HG00735.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0041 a0001c0002t0004g0041	2	422	0.0047	100	c.670 others(115): Show c.670+788_670+789insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AAAGGGAG others(93): Show AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGA G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0019 a0001c0005t0004g0019	1	250	0.0040	100	c.225 others(117): Show c.225-2158_225-2157insAAGGGAGGAGAGAGAGAAAGGGAGGAGA GGGAAAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AGAAAGGG others(93): Show AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0098 a0001c0001t0021g0098	1	250	0.0040	100	c.225 others(117): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787925	T T	TATATATT others(93): Show TATATATTATATATACATATATATTATACATACATATATATTATATATAC ATATATATTATACATACATATATATTATATATACATATATATTATACATA C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0221 a0002c0016t0001g0221	1	378	0.0027	100	c.277 others(117): Show c.277-1545_277-1544insCATACATATATATTATATATACATATAT ATTATACATACATATATATTATATATACATATATATTATACATACATATA TTATATATACATATATATTATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL45_chr17_38292168_38328211	38313311	A A	AAAATATA others(93): Show AAAATATATATATATATATATATATACGTATATATATATATACATATATA TATATACGTATATATATATACGTATATATATATATATACGTATATATATA T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0238 a0002c0003t0001g0238	1	287	0.0035	100	c.462 others(117): Show c.462-5375_462-5374insAATATATATATATATATATATATACGTA TATATATATATACATATATATATATACGTATATATATATACGTATATATA TATATATACGTATATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRTFA_chr22_40405289_40641719	40537219	A A	ACCCCGTC others(93): Show ACCCCGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCACCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC G	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19083.hp2 HG01192.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0226 a0001c0001t0001g0197 a0001c0001t0001g0226	2	256	0.0078	100	c.241 others(119): Show c.241+14886_241+14887insCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCC CCCCCATCTCCCTCCCGGACGGGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537219	A A	ACCCCGTC others(93): Show ACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCC G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01515.hp2 HG01261.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0070 a0001c0007t0001g0251 a0001c0001t0001g0070 a0001c0007t0001g0251	2	256	0.0078	100	c.241 others(119): Show c.241+14886_241+14887insCGGCTGGCCAGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537219	A A	ACCCCGTC others(93): Show ACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCCACCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG04184.hp1 HG02293.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0234 a0001c0001t0001g0148 a0001c0001t0001g0234	2	256	0.0078	100	c.241 others(119): Show c.241+14886_241+14887insCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537238	T T	TGGGGGGG others(93): Show TGGGGGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01192.hp2 HG03927.hp1 others(2): Show HG00423.hp2 HG01192.hp2 HG03927.hp1 NA18973.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001	a0001c0001t0001g0079 a0001c0001t0001g0191 a0001c0001t0002g0237 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0191 a0001c0001t0002g0237 a0001c0001t0003g0182 a0001c0007t0001g0069	5	256	0.0195	100	c.241 others(119): Show c.241+14867_241+14868insCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGG CCGGGTGGGGGGGCTGACCCCCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH3_chr5_80649652_80881815	80692472	T T	TTAGATAG others(93): Show TTAGATAGATAGATAAACATGTATATGTTTAGATAGATAAACATGTATAT GTTTAGATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGT T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0006 a0002c0003t0003g0006	1	362	0.0028	100	c.134 others(121): Show c.1340+13290_1340+13389dupGATAAACATGTATATGTTTAGATA GATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAGA TAAACATGTATATGTTTAGATAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693390	G G	GATAAATA others(93): Show GATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACA TGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATA A	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA18971.hp1 HG01993.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0031 a0001c0001t0002 a0002c0003t0031	a0001c0001t0002g0043 a0002c0003t0031g0210 a0001c0001t0002g0043 a0002c0003t0031g0210	2	362	0.0055	100	c.134 others(121): Show c.1340+14300_1340+14301insAATATACATGCACATGTATGTTTA TATAGATAAATATACATGCACATGTATGTTTATATAGATAAATATACATG CACATGTATGTTTATATAGATAAATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693420	G G	GATAAATA others(93): Show GATAAATATACATGCACATGTATGTTTATATAGATAAATATACATGCACA TGTATGTTTATATAGATAAATATACATGCACATGTATGTTTATATAGATA A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0202 a0002c0003t0003g0202	1	362	0.0028	100	c.134 others(121): Show c.1340+14330_1340+14331insAATATACATGCACATGTATGTTTA TATAGATAAATATACATGCACATGTATGTTTATATAGATAAATATACATG CACATGTATGTTTATATAGATAAATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSI2_chr17_57251523_57689689	57450287	G G	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAACCTTTGTTAAATTACATAAAGTAATATAAGAAGTCACTTTCCT T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02622.hp2 HG02886.hp2 HG00280.hp2 HG02622.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0050 a0001c0001t0001 a0001c0001t0005 a0001c0001t0050	a0001c0001t0001g0053 a0001c0001t0005g0064 a0001c0001t0050g0037 a0001c0001t0001g0053 a0001c0001t0005g0064 a0001c0001t0050g0037	3	168	0.0179	100	c.405 others(119): Show c.405+48851_405+48852insGAAAGAAAGAAAGAAAGAAAACCTTT GTTAAATTACATAAAGTAATATAAGAAGTCACTTTCCTTAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MTHFD1L_chr6_150860702_151106887	150994073	A A	AAAAGAAA others(93): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0200 a0001c0002t0004g0200	1	226	0.0044	100	c.212 others(121): Show c.2126-15743_2126-15742insGAAAGAAAGAAAGAAAGAAAGAAA GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD2_chr2_74193615_74222565	74203843	C C	CTAGTTTA others(93): Show CTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	414	0.0024	100	c.102 others(117): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTNR1A_chr4_186528655_186560567	186540757	T T	TGAAGGAC others(93): Show TGAAGGACCAGGTGCTGTCTGACTGAAGGAAGGACCAGGTGCTGTCTGAC TGAAGGACCAGGTGCTGTCTGACTGAAGGACCAGGTGCTGTCTGACTGAA G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01884.hp1 others(14): Show HG00733.hp2 HG01074.hp1 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA19043.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0006 a0001c0001 a0001c0003 a0005c0006	a0001c0001t0001 a0001c0003t0001 a0005c0006t0001 a0001c0001t0001 a0001c0003t0001 a0005c0006t0001	a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 others(13): Show a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0003t0001g0043 a0001c0003t0001g0061 a0001c0003t0001g0063 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0126 a0001c0003t0001g0192 a0005c0006t0001g0194 a0005c0006t0001g0220	17	396	0.0429	100	c.185 others(117): Show c.185-6300_185-6201dupCTTCAGTCAGACAGCACCTGGTCCTTCA GTCAGACAGCACCTGGTCCTTCAGTCAGACAGCACCTGGTCCTTCCTTCA GTCAGACAGCACCTGGTCCTTC	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MTNR1A_chr4_186528655_186560567	186540824	T T	TCTGACTG others(93): Show TCTGACTGAAGGACCAGGTGCTGTCTGACTGAAGGAAGGACCAGGTGCTG TCTGACTGAAGGATCAGGTGCTGTCTGACTGAAGGACCAGGTGCTGTCTG A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(144): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01099.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0008 a0012	a0001c0001 a0001c0002 a0001c0016 others(8): Show a0001c0001 a0001c0002 a0001c0016 a0001c0018 a0002c0007 a0002c0008 a0003c0004 a0006c0010 a0007c0011 a0008c0013 a0012c0020	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0016t0001 a0001c0018t0001 a0002c0007t0001 a0002c0008t0001 a0003c0004t0002 a0006c0010t0001 a0007c0011t0001 a0008c0013t0001 a0012c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0213 a0001c0001t0001g0278 a0001c0001t0003g0283 a0001c0002t0001g0035 a0001c0016t0001g0163 a0001c0018t0001g0060 a0002c0007t0001g0047 a0002c0007t0001g0143 a0002c0007t0001g0149 a0002c0007t0001g0162 a0002c0008t0001g0144 a0002c0008t0001g0154 a0002c0008t0001g0156 a0002c0008t0001g0157 a0003c0004t0002g0077 a0003c0004t0002g0078 a0006c0010t0001g0048 a0007c0011t0001g0056 a0008c0013t0001g0216 a0012c0020t0001g0172	147	396	0.3712	100	c.185 others(117): Show c.185-6268_185-6267insTCAGACAGCACCTGGTCCTTCAGTCAGA CAGCACCTGATCCTTCAGTCAGACAGCACCTGGTCCTTCCTTCAGTCAGA CAGCACCTGGTCCTTCAGTCAG	MTNR1A	ENSG00000168412.7	transcript	ENST00000307161.5	protein_coding	1/1			chr4	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(93): Show CATATATATATATACATATATATATATACATATATATATATACATATATA TATATATACATATATATATATACACATATATATATATGTATATATATATA T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0036 a0001c0003t0011g0036	1	286	0.0035	100	c.209 others(119): Show c.209-10954_209-10953insATATATATATATACATATATATATAT GTGTATATATATATATGTATATATATATATATGTATATATATATATGTAT ATATATATATGTATATATATATAT	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29389326	T T	TGTATGTA others(93): Show TGTATGTATATATGTATACACATGTGTGTATGTATATATGTATACACATG TGTGTATGTATATATGTATACACATATGTGTGCAAATATGTATGTATACA C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0060 a0005c0007t0002g0060	1	92	0.0109	100	c.311 others(121): Show c.3117+29855_3117+29856insATGTATATATGTATACACATGTGT GTATGTATATATGTATACACATGTGTGTATGTATATATGTATACACATAT GTGTGCAAATATGTATGTATACACGT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC4_chr3_195741771_195816929	195745523	A A	ATATATAT others(93): Show ATATATATATATATATATATTCTTTATATATATATATATATATATATTCT TTATATATATATATATATATATATTCTTTATATATATATATATATATATA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0178 a0178	a0178c0034 a0178c0034	a0178c0034t0002 a0178c0034t0002	a0178c0034t0002g0194 a0178c0034t0002g0194	1	249	0.0040	100	c.16 others(111): Show c.1652_*1653insATATATATATATATATATATATAAAGAATATATA TATATATATATATATAAAGAATATATATATATATATATATATAAAGAATA TATATATATATATATA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		1247		chr3	TogoVar
MUC4_chr3_195741771_195816929	195745524	T T	TATATATA others(93): Show TATATATATATATATATTCTTTATATATATATATATATATATTCTTTATA TATATATATATATATATATATATTCTTTATATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0002 a0005c0015t0002	a0005c0015t0002g0070 a0005c0015t0002g0070	1	249	0.0040	100	c.16 others(111): Show c.1651_*1652insTATATATATATATATATATATATAAAGAATATAT ATATATATATATATATATATAAAGAATATATATATATATATATATAAAGA ATATATATATATATAT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		1246		chr3	TogoVar
MUC4_chr3_195741771_195816929	195745524	T T	TATATATA others(93): Show TATATATATATATATTCTTTATATATATATATATATATATATTCTTTATA TATATATATATATATATATATATTCTTTATATATATATATATATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0002 a0005c0016t0002	a0005c0016t0002g0180 a0005c0016t0002g0181 a0005c0016t0002g0180 a0005c0016t0002g0181	2	249	0.0080	100	c.16 others(111): Show c.1651_*1652insTATATATATATATATATATATATAAAGAATATAT ATATATATATATATATATATAAAGAATATATATATATATATATATATAAA GAATATATATATATAT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		1246		chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1170629	C C	CCACTCAC others(93): Show CCACTCACCCGTTCACCCATTCACCCACTCACTCACCCACTCACCAACTC ACCCATTCACCCACTCACCCACTCACTCACCCACTCACCGACTCAACCAT T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01168.hp2 others(7): Show HG00099.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01516.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp2 NA20805.hp1	a0009 a0010 a0016 others(2): Show a0009 a0010 a0016 a0029 a0031	a0009c0020 a0010c0019 a0016c0029 others(2): Show a0009c0020 a0010c0019 a0016c0029 a0029c0081 a0031c0079	a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 others(2): Show a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 a0029c0081t0002 a0031c0079t0002	a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 others(3): Show a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 a0016c0029t0002g0046 a0029c0081t0002g0044 a0031c0079t0002g0017	10	292	0.0343	100	c.187 others(119): Show c.1870+1612_1870+1613insGTTCACCCATTCACCCACTCACTCAC CCACTCACCAACTCACCCATTCACCCACTCACCCACTCACTCACCCACTC ACCGACTCAACCATTCACTCACCC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC6_chr11_1007823_1041718	1009465	A A	ACGGCCCC others(93): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCTGCCCGCGACCCCGCGCCAGGGTCTGGAGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0028 a0028	a0028c0025 a0028c0025	a0028c0025t0001 a0028c0025t0001	a0028c0025t0001g0239 a0028c0025t0001g0239	1	406	0.0025	100	c.39 others(111): Show c.3990_*3991insCCCCTCCAGACCCTGGCGCGGGGTCGCGGGCAGC GTGTCCCCCGGGGCCGCCCCTCCAGACCCTGGCGCTGGGTCGCGGGCTGC GTGTCCCCCGGGGCCG	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3357		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009515	A A	ACGGCCCC others(93): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCAGCCCACGACCCAGCGCCAGGGTCTGGAGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0014 a0014	a0014c0183 a0014c0183	a0014c0183t0001 a0014c0183t0001	a0014c0183t0001g0268 a0014c0183t0001g0268	1	406	0.0025	100	c.38 others(111): Show c.3841_*3940dupCCCCTCCAGACCCTGGCGCTGGGTCGTGGGCTGC GTGTCCCCCGGGGCCGCCCCTCCAGACCCTGGCGCTGGGTCGCGGGCTGC GTGTCCCCCGGGGCCG	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3307		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009515	A A	ACGGCCCC others(93): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCTGCCCGCGACCCAGCGCCAGGGTCTGGAGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02083.hp2 HG02015.hp2 HG02083.hp2	a0002 a0110 a0002 a0110	a0002c0002 a0110c0152 a0002c0002 a0110c0152	a0002c0002t0001 a0110c0152t0001 a0002c0002t0001 a0110c0152t0001	a0002c0002t0001g0002 a0110c0152t0001g0158 a0002c0002t0001g0002 a0110c0152t0001g0158	2	406	0.0049	100	c.39 others(111): Show c.3940_*3941insCCCCTCCAGACCCTGGCGCTGGGTCGCGGGCAGC GTGTCCCCCGGGGCCGCCCCTCCAGACCCTGGCGCTGGGTCGCGGGCTGC GTGTCCCCCGGGGCCG	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3307		chr11	TogoVar
MUC6_chr11_1007823_1041718	1009515	A A	ACGGCCCC others(93): Show ACGGCCCCGGGGGACACGCAGCCCGCGACCCAGCGCCAGGGTCTGGAGGG GCGGCCCCGGGGGACACGCTGCCCGCGACCCCGCGCCAGGGTCTGGAGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00597.hp1 others(35): Show HG00408.hp2 HG00438.hp1 HG00597.hp1 HG01069.hp1 HG01071.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02523.hp2 HG02738.hp2 HG03831.hp1 HG03834.hp1 HG06807.hp2 NA18947.hp2 NA18949.hp2 NA18955.hp1 NA18961.hp1 NA18966.hp2 NA18983.hp2 NA18998.hp2 NA19009.hp1 NA19054.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19087.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0007 others(17): Show a0002 a0003 a0007 a0011 a0016 a0025 a0066 a0097 a0107 a0128 a0136 a0137 a0138 a0142 a0143 a0144 a0145 a0147 a0148 a0166	a0002c0002 a0003c0003 a0007c0010 others(21): Show a0002c0002 a0003c0003 a0007c0010 a0011c0013 a0011c0125 a0011c0139 a0016c0020 a0016c0051 a0025c0049 a0025c0050 a0066c0193 a0097c0107 a0107c0147 a0128c0110 a0136c0132 a0137c0131 a0138c0130 a0142c0138 a0143c0127 a0144c0123 a0145c0129 a0147c0137 a0148c0121 a0166c0140	a0002c0002t0001 a0003c0003t0001 a0007c0010t0001 others(21): Show a0002c0002t0001 a0003c0003t0001 a0007c0010t0001 a0011c0013t0001 a0011c0125t0001 a0011c0139t0001 a0016c0020t0001 a0016c0051t0001 a0025c0049t0001 a0025c0050t0001 a0066c0193t0001 a0097c0107t0001 a0107c0147t0001 a0128c0110t0001 a0136c0132t0001 a0137c0131t0001 a0138c0130t0001 a0142c0138t0001 a0143c0127t0001 a0144c0123t0001 a0145c0129t0001 a0147c0137t0001 a0148c0121t0001 a0166c0140t0001	a0002c0002t0001g0002 a0003c0003t0001g0041 a0007c0010t0001g0008 others(28): Show a0002c0002t0001g0002 a0003c0003t0001g0041 a0007c0010t0001g0008 a0007c0010t0001g0140 a0011c0013t0001g0033 a0011c0013t0001g0122 a0011c0013t0001g0137 a0011c0013t0001g0262 a0011c0125t0001g0111 a0011c0139t0001g0135 a0016c0020t0001g0117 a0016c0020t0001g0121 a0016c0020t0001g0139 a0016c0020t0001g0265 a0016c0051t0001g0035 a0025c0049t0001g0032 a0025c0050t0001g0034 a0066c0193t0001g0138 a0097c0107t0001g0112 a0107c0147t0001g0155 a0128c0110t0001g0123 a0136c0132t0001g0131 a0137c0131t0001g0130 a0138c0130t0001g0129 a0142c0138t0001g0134 a0143c0127t0001g0110 a0144c0123t0001g0114 a0145c0129t0001g0128 a0147c0137t0001g0264 a0148c0121t0001g0142 a0166c0140t0001g0136	38	406	0.0936	100	c.39 others(111): Show c.3940_*3941insCCCCTCCAGACCCTGGCGCGGGGTCGCGGGCAGC GTGTCCCCCGGGGCCGCCCCTCCAGACCCTGGCGCTGGGTCGCGGGCTGC GTGTCCCCCGGGGCCG	MUC6	ENSG00000184956.16	transcript	ENST00000421673.7	protein_coding		3307		chr11	TogoVar
MUSK_chr9_110663791_110811558	110690167	A A	AATATATA others(93): Show AATATATAAATATATATTTAAGTATAAATATATAAATATATAAATATATA TTTAAGTATAAATATATAAATATATAAATATATATTTAAGTATATATAAA T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG02258.hp2 others(6): Show HG01261.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02809.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023	a0001c0001t0003g0173 a0001c0001t0006g0172 a0001c0001t0009g0175 others(6): Show a0001c0001t0003g0173 a0001c0001t0006g0172 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0012g0178 a0001c0001t0015g0170 a0001c0001t0015g0171 a0001c0001t0023g0174	9	326	0.0276	100	c.358 others(117): Show c.358+2924_358+2925insAATATATAAATATATAAATATATATTTA AGTATAAATATATAAATATATAAATATATATTTAAGTATATATAAATATA TATAAATATATATTTAAGTATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690188	G G	GTATAAAT others(93): Show GTATAAATATATAAATATATAAATATATATTTAAGTATAAATATATAAAT ATATAAATATATATTTAAGTATAAATATATAAATATATAAATATATATTT A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0161 a0002c0004t0005g0161	1	326	0.0031	100	c.358 others(117): Show c.358+2924_358+2925insAATATATAAATATATAAATATATATTTA AGTATAAATATATAAATATATAAATATATATTTAAGTATAAATATATAAA TATATAAATATATATTTATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690199	T T	AATATATA others(93): Show AATATATAAATATATATTTAAGTATAAATATATAAATATATAAATATATA TTTAAGTATAAATATATAAATATATAAATATATATTTAAGTATATATAAA T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp2 others(8): Show HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01106.hp2 HG01168.hp1 HG01361.hp1 HG01978.hp2 HG02486.hp1 HG03139.hp2 HG03540.hp1 NA18906.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0012 a0002c0004t0013 a0006c0008t0007	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 others(8): Show a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0003g0151 a0001c0001t0006g0044 a0001c0002t0012g0047 a0001c0002t0012g0049 a0002c0004t0013g0045 a0006c0008t0007g0150	11	326	0.0337	100	c.358 others(117): Show c.358+2930_358+2931insAATATATAAATATATATTTAAGTATAAA TATATAAATATATAAATATATATTTAAGTATAAATATATAAATATATAAA TATATATTTAAGTATATATAAA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
MX2_chr21_41357027_41414393	41378239	G G	GGGAGAGA others(93): Show GGGAGAGACAGGCTGCTGGGAGGGACAGATCACTGGGAGGGACAGGCCAT TGGGAGACAGGCTGCTGGGAGAGACAGATCACTGGGAGAGACAGGCCGCT T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	374	0.0027	100	c.442 others(115): Show c.442+285_442+286insATCACTGGGAGGGACAGGCCATTGGGAGAC AGGCTGCTGGGAGAGACAGATCACTGGGAGAGACAGGCCGCTTGGAGAGA CAGGCTGCTGGGAGGGACAG	MX2	ENSG00000183486.14	transcript	ENST00000330714.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
MX2_chr21_41357027_41414393	41378302	A A	ACTGGGAG others(93): Show ACTGGGAGAGACAGGCCGCTTGGAGAGACAGGCTGCTGGGAGGGACAGGC CATTGGGAGACAGGCTGCTGGGAGAGACAGATCACTGGGAGAGACAGGCC G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(99): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp1 NA18965.hp1 NA18974.hp1 NA18984.hp2 NA18994.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19063.hp1 NA19067.hp1 NA19068.hp2 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0011 a0014 a0016 a0017	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0002c0005 a0004c0007 a0006c0027 a0011c0019 a0014c0016 a0016c0012 a0017c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0003 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0019 a0002c0005t0003 a0004c0007t0001 a0006c0027t0005 a0011c0019t0002 a0014c0016t0005 a0016c0012t0001 a0017c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0056 others(89): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0056 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0275 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0002g0008 a0001c0001t0002g0057 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0218 a0001c0001t0002g0245 a0001c0001t0002g0268 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0252 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0005g0251 a0001c0001t0005g0320 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0006g0322 a0001c0001t0006g0334 a0001c0001t0006g0341 a0001c0001t0012g0291 a0001c0001t0017g0072 a0001c0002t0001g0002 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0058 a0001c0002t0002g0073 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0189 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0220 a0001c0002t0002g0249 a0001c0002t0002g0265 a0001c0002t0002g0312 a0001c0002t0002g0315 a0001c0002t0002g0337 a0001c0002t0004g0074 a0001c0004t0003g0124 a0001c0004t0003g0128 a0001c0004t0003g0250 a0001c0004t0003g0307 a0001c0004t0003g0321 a0001c0006t0001g0140 a0001c0006t0001g0239 a0002c0003t0001g0024 a0002c0003t0001g0295 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0311 a0002c0003t0002g0225 a0002c0003t0004g0301 a0002c0003t0004g0302 a0002c0003t0005g0296 a0002c0003t0019g0238 a0002c0005t0003g0023 a0002c0005t0003g0293 a0002c0005t0003g0294 a0004c0007t0001g0327 a0004c0007t0001g0328 a0006c0027t0005g0235 a0011c0019t0002g0223 a0014c0016t0005g0279 a0016c0012t0001g0272 a0017c0011t0001g0271	102	374	0.2727	100	c.442 others(115): Show c.442+340_442+341insTGGAGAGACAGGCTGCTGGGAGGGACAGGC CATTGGGAGACAGGCTGCTGGGAGAGACAGATCACTGGGAGAGACAGGCC GCTGGGAGAGACAGGCCGCT	MX2	ENSG00000183486.14	transcript	ENST00000330714.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
MXRA7_chr17_76674566_76715965	76702859	A A	ATATATAT others(93): Show ATATATATATATACGTATATATATATATACGTATATATATATATACGTAT ATATATATATATATATATATATATATACATATACGTATATATATATATAC G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0310 a0002c0002t0002g0310	1	416	0.0024	100	c.342 others(117): Show c.342+7745_342+7746insCGTATATATATATATACGTATATGTATA TATATATATATATATATATATATATACGTATATATATATATACGTATATA TATATATACGTATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(93): Show GTATATATATATATATATATATATATACGTATATATATATACGTATATAT ATATATACACGTATATATATATACGTATATATATATATATATATATACAC A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0148 a0001c0001t0004g0148	1	416	0.0024	100	c.342 others(117): Show c.342+7731_342+7732insTGTGTATATATATATATATATATATACG TATATATATATACGTGTATATATATATATACGTATATATATATACGTATA TATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTATATAT others(93): Show GTATATATATATATATATATATATATATACGTATATATATATACGTATAT ATATATATACACGTATATATATATACGTATATATATATATATATATACAC A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03139.hp2 HG02965.hp1 HG03130.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0166 a0001c0001t0001g0026 a0001c0001t0001g0166	3	416	0.0072	100	c.342 others(117): Show c.342+7731_342+7732insTGTGTATATATATATATATATATACGTA TATATATATACGTGTATATATATATATACGTATATATATATACGTATATA TATATATATATATATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702873	G G	GTGTATAT others(93): Show GTGTATATATATATATATATATATATATATATATATATATATATATGTAT ATATATATATATATATACGTATATATATATATATATATATATACGTATAT A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0045 a0001c0001t0011g0045	1	416	0.0024	100	c.342 others(117): Show c.342+7731_342+7732insTATATACGTATATATATATATATATATA TATACGTATATATATATATATATATACATATATATATATATATATATATA TATATATATATATATATATACA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MYBPC1_chr12_101589971_101691028	101591776	T T	TTCTTCTT others(93): Show TTCTTCTTCTTTTCTTCTTCTTCTCCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	360	0.0028	100	c.-32 others(111): Show c.-3295_-3294insTCTTCTTCTTTTCTTCTTCTTCTCCTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC CTCCTCCTCCTCCTCC	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3194		chr12	TogoVar

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Search Results (Total: 10000 hits)