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
MRTFA_chr22_40405289_40641719	40571026	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	256	0.0039	25	c.-21 others(44): Show c.-21-18684_-21-18660dupTTTTTTTTTTTTTTTTTTTTTTTTT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	2/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFB_chr16_14066319_14271773	14243864	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0231 a0001c0001t0029g0231	1	240	0.0042	25	c.108 others(44): Show c.1080-1651_1080-1650insTTTTTTTTTTTTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A12_chr11_60487778_60512430	60500996	A A	ACTGAACA others(18): Show ACTGAACATTCTGTCACACTGAACTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	432	0.0023	25	c.277 others(38): Show c.277-48_277-47insTGAACATTCTGTCACACTGAACTTC	MS4A12	ENSG00000071203.9	transcript	ENST00000016913.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A18_chr11_60719720_60750028	60726717	C C	CTTTTATT others(18): Show CTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0075 a0004c0006t0008g0076 a0004c0006t0008g0075 a0004c0006t0008g0076	2	416	0.0048	25	c.-13 others(42): Show c.-13+1958_-13+1982dupATTTTATTTTATTTTATTTTATTTT	MS4A18	ENSG00000214782.8	transcript	ENST00000529108.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MSANTD4_chr11_106002899_106027240	106022839	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	384	0.0026	25	c.-20 others(36): Show c.-2029_-2028insAAAAAAAAAAAAAAAAAAAAAAAAA	MSANTD4	ENSG00000170903.12	transcript	ENST00000301919.9	protein_coding		600		chr11	TogoVar
MSH2_chr2_47398156_47488223	47413548	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	370	0.0027	25	c.793 others(40): Show c.793-712_793-688dupTTTTTTTTTTTTTTTTTTTTTTTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47449015	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	370	0.0027	25	c.138 others(44): Show c.1386+3369_1386+3370insAAAAAAAAAAAAAAAAAAAAAAAAA	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461966	T T	TCTTTTCT others(18): Show TCTTTTCTTTTCTTTTCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA19070.hp2 HG02273.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0346 a0001c0001t0001g0020 a0001c0001t0001g0346	2	370	0.0054	25	c.138 others(44): Show c.1387-1061_1387-1060insTCTTTTCTTTTCTTTCCTTTCCTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH2_chr2_47398156_47488223	47461966	T T	TCTTTTCT others(18): Show TCTTTTCTTTTCTTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19066.hp2 HG00738.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0345 a0001c0001t0001g0041 a0001c0001t0001g0345	2	370	0.0054	25	c.138 others(44): Show c.1387-1061_1387-1060insTCTTTTCTTTTCTTTTCTTTCCTTT	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH3_chr5_80649652_80881815	80692272	G G	GTTTAGAT others(18): Show GTTTAGATAGATAAACATGTATATGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02523.hp1 HG03139.hp1 others(3): Show HG01123.hp1 HG02523.hp1 HG03139.hp1 HG03710.hp1 NA18612.hp2 NA18957.hp1	a0002 a0004 a0031 a0002 a0004 a0031	a0002c0003 a0004c0005 a0031c0032 a0002c0003 a0004c0005 a0031c0032	a0002c0003t0003 a0002c0003t0014 a0004c0005t0003 others(1): Show a0002c0003t0003 a0002c0003t0014 a0004c0005t0003 a0031c0032t0004	a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0006 others(3): Show a0002c0003t0003g0003 a0002c0003t0003g0004 a0002c0003t0003g0006 a0002c0003t0014g0005 a0004c0005t0003g0309 a0031c0032t0004g0020	6	362	0.0166	25	c.134 others(46): Show c.1340+13181_1340+13182insTAGATAGATAAACATGTATATGTT T	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692299	G G	GTTTAGAT others(18): Show GTTTAGATAGATAAACATGTATATGT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0324 a0001c0001t0026g0324	1	362	0.0028	25	c.134 others(46): Show c.1340+13208_1340+13209insTAGATAGATAAACATGTATATGTT T	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80762790	T T	TTTATTTT others(18): Show TTTATTTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG01891.hp1 others(12): Show HG00597.hp1 HG00621.hp1 HG01891.hp1 HG02083.hp2 HG02109.hp1 HG03098.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18953.hp2 NA18957.hp2 NA18986.hp2 NA18991.hp1 NA19000.hp1 NA20129.hp1	a0003 a0006 a0008 others(1): Show a0003 a0006 a0008 a0016	a0003c0004 a0006c0007 a0008c0010 others(1): Show a0003c0004 a0006c0007 a0008c0010 a0016c0019	a0003c0004t0004 a0006c0007t0006 a0006c0007t0008 others(2): Show a0003c0004t0004 a0006c0007t0006 a0006c0007t0008 a0008c0010t0009 a0016c0019t0004	a0003c0004t0004g0230 a0003c0004t0004g0250 a0003c0004t0004g0251 others(12): Show a0003c0004t0004g0230 a0003c0004t0004g0250 a0003c0004t0004g0251 a0003c0004t0004g0252 a0003c0004t0004g0255 a0003c0004t0004g0264 a0003c0004t0004g0345 a0006c0007t0006g0263 a0006c0007t0008g0239 a0006c0007t0008g0243 a0006c0007t0008g0273 a0006c0007t0008g0285 a0006c0007t0008g0295 a0008c0010t0009g0221 a0016c0019t0004g0261	15	362	0.0414	25	c.189 others(44): Show c.1896+1116_1896+1117insTTTATGTTATGTTATGTTATGTTAT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80762825	G G	GTTATGTT others(18): Show GTTATGTTATGTTATGTTATGTTATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0038 a0001c0002t0005g0038	1	362	0.0028	25	c.189 others(44): Show c.1896+1156_1896+1157insGTTATGTTATGTTATTTTATGTTAT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80784212	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18959.hp1 NA18960.hp2 HG02738.hp1 NA18959.hp1 NA18960.hp2	a0001 a0019 a0001 a0019	a0001c0002 a0019c0018 a0001c0002 a0019c0018	a0001c0002t0001 a0019c0018t0001 a0001c0002t0001 a0019c0018t0001	a0001c0002t0001g0126 a0001c0002t0001g0138 a0019c0018t0001g0157 a0001c0002t0001g0126 a0001c0002t0001g0138 a0019c0018t0001g0157	3	362	0.0083	25	c.243 others(44): Show c.2436-3350_2436-3326dupAAAAAAAAAAAAAAAAAAAAAAAAA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80810195	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0306 a0004c0005t0007g0306	1	362	0.0028	25	c.265 others(44): Show c.2656-3389_2656-3388insTATATATATATATATATATATATAT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	19/23			chr5	TogoVar
MSH5_chr6_31735005_31767676	31746080	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	397	0.0025	25	c.766 others(40): Show c.766+761_766+762insGTGTGTGTGTGTGTGTGTGTGTGTG	MSH5	ENSG00000204410.16	transcript	ENST00000375750.9	protein_coding	9/24			chr6	TogoVar
MSI2_chr17_57251523_57689689	57450253	C C	CAGAAAGA others(18): Show CAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0081 a0001c0001t0012g0081	1	168	0.0060	25	c.405 others(44): Show c.405+48782_405+48783insAGAAAGAAAGAAAGAAAGAAAGAAA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13			chr17	TogoVar
MSI2_chr17_57251523_57689689	57583488	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0056 a0001c0001t0094g0056	1	168	0.0060	25	c.455 others(44): Show c.455-13361_455-13360insTTTTTTTTTTTTTTTTTTTTTTTTT	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSL1_chr17_40116971_40141917	40140349	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0011 a0001c0002t0008g0011	1	356	0.0028	25	c.59 others(36): Show c.5980_*5981insACACACACACACACACACACACACA	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3433		chr17	TogoVar
MSLN_chr16_755734_773862	767722	G G	GGGGCGCG others(18): Show GGGGCGCGTGGAGGGGGGCGCGTGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03516.hp2 HG02280.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0348 a0001c0001t0001g0349	2	388	0.0052	25	c.159 others(42): Show c.1596+253_1596+254insGGCGCGTGGAGGGGGGCGCGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767755	C C	CGTGGAGG others(18): Show CGTGGAGGAGGGGCGCGTGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0102 a0002c0003t0001g0102	1	388	0.0026	25	c.159 others(42): Show c.1596+287_1596+311dupTGGAGGAGGGGCGCGTGGAGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767881	G G	GGGGGGGC others(18): Show GGGGGGGCGAGTGGAGGGGGGCGCGT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02004.hp1 HG02273.hp1 others(1): Show HG01978.hp1 HG02004.hp1 HG02273.hp1 HG02293.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0212 a0002c0003t0004g0215 a0002c0003t0004g0217 others(1): Show a0002c0003t0004g0212 a0002c0003t0004g0215 a0002c0003t0004g0217 a0002c0003t0004g0220	4	388	0.0103	25	c.159 others(42): Show c.1596+411_1596+412insGGGGGGCGAGTGGAGGGGGGCGCGT	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSMO1_chr4_165322669_165348164	165329625	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA20129.hp2 NA18992.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0266 a0001c0001t0003g0308 a0001c0001t0001g0266 a0001c0001t0003g0308	2	462	0.0043	25	c.-32 others(42): Show c.-32+1864_-32+1888dupTTTTTTTTTTTTTTTTTTTTTTTTT	MSMO1	ENSG00000052802.13	transcript	ENST00000261507.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(18): Show ATATAAAATCTTATTTTATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01891.hp2 others(15): Show HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02257.hp2 HG02486.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0006t0009 a0001c0011t0008 a0004c0005t0008	a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0072 others(15): Show a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0006g0004 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0007g0076 a0001c0001t0018g0073 a0001c0001t0019g0078 a0001c0001t0024g0001 a0001c0001t0024g0002 a0001c0006t0009g0074 a0001c0011t0008g0068 a0001c0011t0008g0069 a0004c0005t0008g0070 a0004c0005t0008g0071 a0004c0005t0008g0075	18	330	0.0546	25	c.-5+ others(40): Show c.-5+3122_-5+3123insAATATATATAAAATAAGATTTTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10074058	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	286	0.0035	25	c.142 others(44): Show c.142+19416_142+19440dupTTTTTTTTTTTTTTTTTTTTTTTTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10113292	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	286	0.0035	25	c.142 others(44): Show c.142+58656_142+58657insTTTTTTTTTTTTTTTTTTTTTTTTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB1_chr16_1933229_1948199	1934084	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	25	c.50 others(36): Show c.5027_*5028insAAAAAAAAAAAAAAAAAAAAAAAAA	MSRB1	ENSG00000198736.13	transcript	ENST00000361871.8	protein_coding		4144		chr16	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp1 others(1): Show HG01069.hp1 HG01070.hp2 HG01071.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	4	398	0.0101	25	c.-10 others(36): Show c.-1006_-1005insTATATATATATATATATATATATAT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA18951.hp2 HG01074.hp1 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	398	0.0050	25	c.-10 others(36): Show c.-1006_-1005insTATATATATATATATATATATATTT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	25	c.-10 others(36): Show c.-1006_-1005insTATATATATATATATATATTTTTTT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609244	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA19087.hp2 NA18970.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	398	0.0050	25	c.-10 others(36): Show c.-1005_-1004insATATATATATATATATATATATATA	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		973		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609244	T T	TATATATA others(18): Show TATATATATATATATATATATTTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	398	0.0025	25	c.-10 others(36): Show c.-1005_-1004insATATATATATATATATATATTTATA	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		973		chr1	TogoVar
MT4_chr16_56560073_56573957	56561683	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	428	0.0023	25	c.-34 others(36): Show c.-3446_-3445insTTTTTTTTTTTTTTTTTTTTTTTTT	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding		3389		chr16	TogoVar
MTA1_chr14_105414827_105475729	105420107	G G	GCCCCCAC others(18): Show GCCCCCACCCGCCGCCGCTGCCGCCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03098.hp1 HG03471.hp1 others(1): Show HG02300.hp2 HG03098.hp1 HG03471.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0015 a0003c0008t0001g0012 a0003c0008t0001g0013 others(1): Show a0001c0001t0001g0015 a0003c0008t0001g0012 a0003c0008t0001g0013 a0003c0008t0001g0014	4	304	0.0132	25	c.28+ others(36): Show c.28+50_28+74dupACCCGCCGCCGCTGCCGCCTCCCCC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18955.hp1 HG04199.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0164 a0001c0001t0002g0026 a0001c0001t0002g0164	2	312	0.0064	25	c.191 others(44): Show c.191-14729_191-14728insATATATATATATATATATTTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	312	0.0032	25	c.191 others(44): Show c.191-14729_191-14728insATATATATATATATATTTTTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42724275	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	312	0.0032	25	c.175 others(44): Show c.1759+1240_1759+1241insCACACACACACACACACACACACAC	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	16/16			chr2	TogoVar
MTARC1_chr1_220781913_220824659	220809491	C C	CAATTTAA others(18): Show CAATTTAATTTAATTTAATTTAATTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01433.hp2 others(1): Show HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0013 a0002c0002t0005 a0001c0001t0005 a0001c0001t0013 a0002c0002t0005	a0001c0001t0005g0054 a0001c0001t0013g0199 a0002c0002t0005g0203 a0001c0001t0005g0054 a0001c0001t0013g0199 a0002c0002t0005g0203	4	418	0.0096	25	c.888 others(42): Show c.888-3799_888-3775dupATTTAATTTAATTTAATTTAATTTA	MTARC1	ENSG00000186205.14	transcript	ENST00000366910.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTCH2_chr11_47612317_47647559	47633527	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01192.hp2 NA18999.hp1 HG00735.hp2 HG01192.hp2 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0082 a0002c0002t0001g0114 a0002c0002t0001g0045 a0002c0002t0001g0082 a0002c0002t0001g0114	3	370	0.0081	25	c.369 others(42): Show c.369+1144_369+1145insTATATATATATATATATATATATAT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTDH_chr8_97639184_97735260	97678594	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18993.hp2 NA19007.hp2 NA18974.hp1 NA18993.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0071 a0001c0001t0011 a0001c0001t0071	a0001c0001t0011g0141 a0001c0001t0011g0144 a0001c0001t0071g0145 a0001c0001t0011g0141 a0001c0001t0011g0144 a0001c0001t0071g0145	3	370	0.0081	25	c.484 others(42): Show c.484-8050_484-8049insTTTTTTTTTTTTTTTTTTTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	370	0.0027	25	c.104 others(44): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04204.hp1 NA18950.hp1 others(1): Show HG03710.hp1 HG04204.hp1 NA18950.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0007g0170 others(1): Show a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0007g0170 a0001c0001t0007g0171	4	370	0.0108	25	c.104 others(44): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18977.hp1 HG03540.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0003 a0001c0001t0001 a0001c0007t0003	a0001c0001t0001g0042 a0001c0007t0003g0154 a0001c0001t0001g0042 a0001c0007t0003g0154	2	370	0.0054	25	c.104 others(44): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	370	0.0027	25	c.104 others(44): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0228 a0001c0002t0003g0228	1	370	0.0027	25	c.104 others(44): Show c.1049-2624_1049-2623insAAAAAAAAAAAAATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0208 a0001c0002t0003g0208	1	370	0.0027	25	c.104 others(44): Show c.1049-2624_1049-2623insAAAAAAAAAAATATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97708581	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0120 a0001c0001t0058g0120	1	370	0.0027	25	c.127 others(44): Show c.1272+1845_1272+1869dupTTTTTTTTTTTTTTTTTTTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTF1_chr1_37804574_37864592	37838797	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01256.hp1 HG01258.hp1 others(1): Show HG00423.hp2 HG01256.hp1 HG01258.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0001t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0002g0278 a0001c0002t0003g0307 a0001c0002t0006g0209 others(1): Show a0001c0001t0002g0278 a0001c0002t0003g0307 a0001c0002t0006g0209 a0001c0002t0006g0223	4	376	0.0106	25	c.648 others(38): Show c.648-42_648-41insAAAAAAAAAAAAAAAAAAAAAAAAA	MTF1	ENSG00000188786.10	transcript	ENST00000373036.5	protein_coding	3/10			chr1	TogoVar
MTF2_chr1_93074283_93144076	93101568	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	340	0.0029	25	c.6-8 others(38): Show c.6-8657_6-8633dupTTTTTTTTTTTTTTTTTTTTTTTTT	MTF2	ENSG00000143033.18	transcript	ENST00000370298.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTHFD1L_chr6_150860702_151106887	151090852	T T	TGACTGGG others(18): Show TGACTGGGTGCAGCATCGCCCCATGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0109 a0001c0002t0003g0109	1	226	0.0044	25	c.284 others(44): Show c.2848-1599_2848-1575dupCGCCCCATGCGACTGGGTGCAGCAT	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	26/27		INFO_REALIGN_3_PRIME	chr6	TogoVar

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