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
MS4A4A_chr11_60275666_60313970	60278415	T T	TTATATAA others(25): Show TTATATAATATATATTATATATTATATCTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	32	c.-22 others(43): Show c.-2261_-2260insTATATAATATATATTATATATTATATCTATTA	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding		2250		chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60278443	T T	TATTATAT others(25): Show TATTATATATAATATATCTGTATATGATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 NA18957.hp1 NA18964.hp1 HG04184.hp2 NA18957.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0014 a0002c0002t0002g0239 a0001c0001t0001g0001 a0001c0001t0001g0014 a0002c0002t0002g0239	3	430	0.0070	32	c.-22 others(43): Show c.-2233_-2232insATTATATATAATATATCTGTATATGATATATA	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding		2222		chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TATACGTA others(25): Show TATACGTATATATATATGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp2 HG02976.hp2 others(4): Show HG01884.hp1 HG02886.hp2 HG02976.hp2 HG03516.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0005 a0015 a0005 a0015	a0005c0006 a0015c0019 a0005c0006 a0015c0019	a0005c0006t0006 a0015c0019t0006 a0005c0006t0006 a0015c0019t0006	a0005c0006t0006g0007 a0005c0006t0006g0254 a0015c0019t0006g0255 a0005c0006t0006g0007 a0005c0006t0006g0254 a0015c0019t0006g0255	7	410	0.0171	32	c.484 others(47): Show c.484-693_484-692insGTGTATATATATATACATATATATATACGT AT	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(25): Show TGTATATATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	410	0.0024	32	c.484 others(47): Show c.484-693_484-692insGTATATATATATATACATATATATATATAT AC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSH3_chr5_80649652_80881815	80692174	T T	TTAGATAG others(25): Show TTAGATAGATAGATAAACATGTATATGTTTAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01952.hp2 others(5): Show HG00621.hp1 HG01123.hp1 HG01952.hp2 HG01993.hp1 HG02132.hp2 HG02602.hp1 HG03239.hp1 HG03490.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0016	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005 a0016c0019	a0001c0001t0007 a0002c0003t0003 a0003c0004t0004 others(3): Show a0001c0001t0007 a0002c0003t0003 a0003c0004t0004 a0004c0005t0007 a0004c0005t0013 a0016c0019t0017	a0001c0001t0007g0223 a0002c0003t0003g0006 a0003c0004t0004g0264 others(5): Show a0001c0001t0007g0223 a0002c0003t0003g0006 a0003c0004t0004g0264 a0004c0005t0007g0225 a0004c0005t0007g0275 a0004c0005t0007g0276 a0004c0005t0013g0288 a0016c0019t0017g0289	8	362	0.0221	32	c.134 others(53): Show c.1340+13091_1340+13092insGATAAACATGTATATGTTTAGATA GATAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692376	T T	TTAGATAG others(25): Show TTAGATAGATAGATAAACATGTATATGTTTAGA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0010 a0007c0008t0010	a0007c0008t0010g0052 a0007c0008t0010g0052	1	362	0.0028	32	c.134 others(53): Show c.1340+13293_1340+13294insGATAAACATGTATATGTTTAGATA GATAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692400	T T	TTAGATAG others(25): Show TTAGATAGATAGATAAACATGTATATGTTTAGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0309 a0004c0005t0003g0309	1	362	0.0028	32	c.134 others(53): Show c.1340+13317_1340+13318insGATAAACATGTATATGTTTAGATA GATAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80810172	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0215 a0002c0003t0003g0215	1	362	0.0028	32	c.265 others(51): Show c.2656-3389_2656-3388insTATATATATATATATATATATATATA TATATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75854011	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0113 a0002c0003t0001g0113	1	332	0.0030	32	c.123 others(51): Show c.1230+5736_1230+5737insATATATATATATATATATATATATAT ATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75854013	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19056.hp2 NA18962.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0244 a0001c0001t0001g0211 a0001c0001t0001g0244	2	332	0.0060	32	c.123 others(51): Show c.1230+5752_1230+5753insATATATATATATATATATATATATAT ATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75854013	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	332	0.0030	32	c.123 others(51): Show c.1230+5738_1230+5739insGTATATATATATATATATATATATAT ATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75885960	T T	TTATATAG others(25): Show TTATATAGCATATATAGTATATATGATGTATTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG01070.hp2 others(41): Show HG00558.hp2 HG01069.hp1 HG01070.hp2 HG01358.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02738.hp1 HG03669.hp2 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18957.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0005 a0002c0003t0001 a0001c0002t0001 a0001c0002t0005 a0002c0003t0001	a0001c0002t0001g0240 a0001c0002t0001g0269 a0001c0002t0001g0270 others(41): Show a0001c0002t0001g0240 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0005g0283 a0002c0003t0001g0154	44	332	0.1325	32	c.210 others(51): Show c.2107+2149_2107+2150insATATAGTATATATGATGTATTATATA TAGCAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75885960	T T	TTATATAG others(25): Show TTATATAGCATGTATAGTATATATGATGTATTA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01257.hp2 HG01256.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0303 a0001c0002t0001g0287 a0001c0002t0001g0303	2	332	0.0060	32	c.210 others(51): Show c.2107+2144_2107+2175dupTAGCATGTATAGTATATATGATGTAT TATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75907684	C C	CTCTCTAT others(25): Show CTCTCTATACACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0132 a0002c0003t0001g0132	1	332	0.0030	32	c.262 others(51): Show c.2620-5011_2620-5010insCTCTATACACATATATATATATATAT ATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH5_chr6_31735005_31767676	31746080	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	397	0.0025	32	c.766 others(47): Show c.766+764_766+795dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	MSH5	ENSG00000204410.16	transcript	ENST00000375750.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
MSH6_chr2_47778145_47811953	47788912	T T	TTTTTTTT others(25): Show TTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02451.hp1 HG01433.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0295 a0001c0001t0001g0284 a0001c0001t0001g0295	2	390	0.0051	32	c.261 others(49): Show c.261-2007_261-2006insGTTTTTTTTTTTTGTTTTGTTTTGTTTT TTTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSI2_chr17_57251523_57689689	57502602	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0166 a0001c0001t0017g0166	1	168	0.0060	32	c.406 others(51): Show c.406-27070_406-27039dupTATATATATATATATATATATATATA TATATA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSI2_chr17_57251523_57689689	57502636	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	168	0.0060	32	c.406 others(51): Show c.406-27039_406-27038insTATATATATATATATATATATATATA TATAGA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSL1_chr17_40116971_40141917	40140373	A A	AACACACA others(25): Show AACACACACACACACACCCCAACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	32	c.60 others(43): Show c.6004_*6005insACACACACACACACACCCCAACACACACACAC	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3457		chr17	TogoVar
MSL2_chr3_136143917_136201335	136180808	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp2 HG02630.hp2 others(1): Show HG01106.hp2 HG02109.hp2 HG02630.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0007g0045	4	310	0.0129	32	c.142 others(51): Show c.142+14163_142+14164insTTCCTTCCTTCCTTCCCTCCTTCCTT CCTTCC	MSL2	ENSG00000174579.5	transcript	ENST00000309993.3	protein_coding	1/1			chr3	TogoVar
MSL2_chr3_136143917_136201335	136180808	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAAGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	310	0.0032	32	c.142 others(51): Show c.142+14163_142+14164insTTCCTTCCTTCCTTCCCTCCTTCCCT CCCTCC	MSL2	ENSG00000174579.5	transcript	ENST00000309993.3	protein_coding	1/1			chr3	TogoVar
MSL2_chr3_136143917_136201335	136180808	G G	GGGAGGGA others(25): Show GGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	310	0.0032	32	c.142 others(51): Show c.142+14163_142+14164insTTCCTTCCCTCCTTCCCTCCCTCCCT CCCTCC	MSL2	ENSG00000174579.5	transcript	ENST00000309993.3	protein_coding	1/1			chr3	TogoVar
MSR1_chr8_16102881_16197651	16189359	T T	TTTTTATA others(25): Show TTTTTATATATATTTTATATATATAAAATCTTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	330	0.0030	32	c.-5+ others(47): Show c.-5+3207_-5+3238dupTAAGATTTTATATATATAAAATATATATAA AA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10155000	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02129.hp2 HG03704.hp2 others(2): Show HG00673.hp2 HG02129.hp2 HG03704.hp2 NA18982.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0002g0139 a0001c0002t0002g0169 a0001c0002t0002g0175 others(2): Show a0001c0002t0002g0139 a0001c0002t0002g0169 a0001c0002t0002g0175 a0001c0002t0002g0216 a0002c0004t0001g0224	5	286	0.0175	32	c.143 others(51): Show c.143-52832_143-52831insATATATATATATATATATATATATAT ATATAT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10155002	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	286	0.0035	32	c.143 others(51): Show c.143-52819_143-52818insTATATATATATATATATATATATATA TATATA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283160	A A	ACACACAC others(25): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG03516.hp2 others(1): Show HG02622.hp2 HG02896.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0001t0001 a0001c0001t0005 a0001c0002t0002	a0001c0001t0001g0048 a0001c0001t0005g0121 a0001c0002t0002g0146 others(1): Show a0001c0001t0001g0048 a0001c0001t0005g0121 a0001c0002t0002g0146 a0001c0002t0002g0243	4	286	0.0140	32	c.332 others(51): Show c.332-18373_332-18372insACACACACTCTCTCTCTCTCTCTCTC TCTCTC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283836	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	286	0.0035	32	c.332 others(51): Show c.332-17697_332-17696insTATATATATATATATATATACACACA CACACA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10363738	C C	CCACACAC others(25): Show CCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01192.hp2 NA19009.hp1 HG00544.hp1 HG01192.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0284 a0001c0002t0002g0264 a0001c0002t0002g0274 a0001c0001t0001g0284 a0001c0002t0002g0264 a0001c0002t0002g0274	3	286	0.0105	32	c.543 others(51): Show c.543+43759_543+43790dupACACACACACACACACACACACACAC ACACAC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10417754	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01261.hp2 HG03139.hp2 HG01070.hp2 HG01261.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0087 a0001c0001t0003g0235 a0001c0002t0002g0102 a0001c0001t0003g0087 a0001c0001t0003g0235 a0001c0002t0002g0102	3	286	0.0105	32	c.544 others(51): Show c.544-10369_544-10368insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB2_chr10_23090579_23127013	23096348	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0009 a0006c0006t0009	a0006c0006t0009g0264 a0006c0006t0009g0264	1	442	0.0023	32	c.118 others(47): Show c.118+623_118+624insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03927.hp2 NA18612.hp2 others(5): Show HG00544.hp2 HG03927.hp2 NA18612.hp2 NA18939.hp2 NA18981.hp1 NA19004.hp1 NA19056.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0003c0004t0003 a0001c0001t0001 a0001c0001t0003 a0003c0004t0003	a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0061 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0003g0015 a0003c0004t0003g0015	8	442	0.0181	32	c.118 others(47): Show c.118+627_118+628insCTCTCTCTCTCTGTGTGTGTGTGTGTGTGT GT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTGTGT others(25): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	442	0.0023	32	c.118 others(47): Show c.118+627_118+628insCTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19030.hp1 NA20905.hp1 HG03041.hp1 NA19030.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0007 a0001c0001t0001 a0005c0008t0007	a0001c0001t0001g0140 a0001c0001t0001g0297 a0005c0008t0007g0139 a0001c0001t0001g0140 a0001c0001t0001g0297 a0005c0008t0007g0139	3	442	0.0068	32	c.118 others(47): Show c.118+647_118+648insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSTO1_chr1_155605218_155619951	155609217	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 NA18981.hp2 HG01884.hp2 NA18981.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0002 a0006c0007t0007 a0002c0002t0002 a0006c0007t0007	a0002c0002t0002g0002 a0006c0007t0007g0008 a0002c0002t0002g0002 a0006c0007t0007g0008	2	398	0.0050	32	c.-10 others(43): Show c.-1032_-1031insTATATATATATATATATATATATATATATATA	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		1000		chr1	TogoVar
MT3_chr16_56584528_56596085	56592142	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	438	0.0023	32	c.11 others(43): Show c.1193_*1194insATATATATATATATATATATATATATATATAT	MT3	ENSG00000087250.9	transcript	ENST00000200691.5	protein_coding		1058		chr16	TogoVar
MT3_chr16_56584528_56596085	56592165	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	438	0.0023	32	c.12 others(43): Show c.1216_*1217insTATATATATATATATATATATATATATATATG	MT3	ENSG00000087250.9	transcript	ENST00000200691.5	protein_coding		1081		chr16	TogoVar
MT4_chr16_56560073_56573957	56566725	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	428	0.0023	32	c.32- others(47): Show c.32-1023_32-1022insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566789	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	428	0.0023	32	c.32- others(45): Show c.32-959_32-958insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566793	A A	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01981.hp1 NA19011.hp1 HG01099.hp2 HG01981.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0241 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0241	3	428	0.0070	32	c.32- others(45): Show c.32-955_32-954insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566797	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	428	0.0023	32	c.32- others(45): Show c.32-939_32-938insGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566801	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	428	0.0023	32	c.32- others(45): Show c.32-939_32-938insGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42594726	A A	ACATATAT others(25): Show ACATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	312	0.0032	32	c.191 others(51): Show c.191-14732_191-14731insCATATATATATATATATATATATATA TATTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16			chr2	TogoVar
MTA3_chr2_42563632_42761946	42594726	A A	ACATATAT others(25): Show ACATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp2 HG01496.hp1 others(2): Show HG01123.hp1 HG01261.hp2 HG01496.hp1 NA19000.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0001t0001 a0001c0001t0005 a0001c0004t0001	a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0005g0022 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0005g0022 a0001c0001t0005g0132 a0001c0004t0001g0027	5	312	0.0160	32	c.191 others(51): Show c.191-14732_191-14731insCATATATATATATATATATATATATT TTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16			chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATACATT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	312	0.0032	32	c.191 others(51): Show c.191-14729_191-14728insATATATATATATATATATATATATAT ACATTT	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(25): Show ATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	312	0.0032	32	c.191 others(51): Show c.191-14729_191-14728insATATATATATATATATATATATATAT ATTTTT	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(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	312	0.0032	32	c.191 others(51): Show c.191-14729_191-14728insATATATATATATATATATATATATAT TTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTAP_chr9_21797636_21872081	21802985	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01496.hp2 HG01515.hp1 others(3): Show HG00597.hp1 HG01496.hp2 HG01515.hp1 HG03041.hp1 HG03710.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0044 a0001c0003t0001	a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0005g0026 others(3): Show a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0005g0026 a0001c0001t0012g0024 a0001c0001t0044g0344 a0001c0003t0001g0023	6	382	0.0157	32	c.33+ others(45): Show c.33+225_33+256dupACACACACACACACACACACACACACACACAC	MTAP	ENSG00000099810.21	transcript	ENST00000644715.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
MTARC1_chr1_220781913_220824659	220789131	G G	GAGGATGC others(25): Show GAGGATGCGACACGTGCCAGGGTGCCAGCATAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG03225.hp1 others(1): Show HG02145.hp1 HG02280.hp1 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0006 a0001c0001t0014	a0001c0001t0006g0035 a0001c0001t0006g0185 a0001c0001t0014g0184 a0001c0001t0006g0035 a0001c0001t0006g0185 a0001c0001t0014g0184	4	418	0.0096	32	c.275 others(49): Show c.275+1919_275+1920insGACACGTGCCAGGGTGCCAGCATAAAGG ATGC	MTARC1	ENSG00000186205.14	transcript	ENST00000366910.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTARC2_chr1_220743322_220789815	220789131	G G	GAGGATGC others(25): Show GAGGATGCGACACGTGCCAGGGTGCCAGCATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG03225.hp1 others(1): Show HG02145.hp1 HG02280.hp1 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0323 a0001c0004t0001g0009 a0001c0004t0001g0323	4	398	0.0101	32	c.52 others(43): Show c.5244_*5245insAGGATGCGACACGTGCCAGGGTGCCAGCATAA	MTARC2	ENSG00000117791.16	transcript	ENST00000366913.8	protein_coding		4317		chr1	TogoVar
MTCH2_chr11_47612317_47647559	47633505	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02055.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0230 a0001c0001t0001g0239	2	370	0.0054	32	c.369 others(49): Show c.369+1166_369+1167insATATATATATATATATATATATATATAT ATAT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar

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