JoGo: Joint Open Genome and Omics Platform

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
MSH3_chr5_80649652_80881815	80692825	A A	ACACATGT others(23): Show ACACATGTATATGTTTAGATAAATATACATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02602.hp2 NA18957.hp2 others(4): Show HG01255.hp1 HG02602.hp2 NA18957.hp2 NA18959.hp2 NA18986.hp2 NA19000.hp1 NA20905.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0004 a0004c0005 a0006c0007 a0003c0004 a0004c0005 a0006c0007	a0003c0004t0004 a0003c0004t0021 a0004c0005t0007 others(1): Show a0003c0004t0004 a0003c0004t0021 a0004c0005t0007 a0006c0007t0008	a0003c0004t0004g0277 a0003c0004t0021g0257 a0004c0005t0007g0306 others(4): Show a0003c0004t0004g0277 a0003c0004t0021g0257 a0004c0005t0007g0306 a0006c0007t0008g0239 a0006c0007t0008g0273 a0006c0007t0008g0295 a0006c0007t0008g0296	7	362	0.0193	30	c.134 others(51): Show c.1340+13929_1340+13958dupGATAAATATACATGCACATGTATA TGTTTA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693013	A A	ATGTTTAT others(23): Show ATGTTTATATAGATAAATATACATGCACATG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19009.hp2 NA18977.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0078 a0001c0001t0002g0079	2	362	0.0055	30	c.134 others(51): Show c.1340+13921_1340+13922insGTTTATATAGATAAATATACATGC ACATGT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693043	A A	ATGTTTAT others(23): Show ATGTTTATATAGATAAATATACATGCACATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 HG02486.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0037 a0001c0002t0005g0038 a0001c0002t0005g0037 a0001c0002t0005g0038	2	362	0.0055	30	c.134 others(51): Show c.1340+13951_1340+13952insGTTTATATAGATAAATATACATGC ACATGT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693245	A A	ATGTTTAT others(23): Show ATGTTTATATAGATAAATATACATGCACATG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03453.hp2 HG03579.hp1 HG03041.hp2 HG03453.hp2 HG03579.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0005 a0012c0013t0005	a0012c0013t0005g0033 a0012c0013t0005g0034 a0012c0013t0005g0035 a0012c0013t0005g0033 a0012c0013t0005g0034 a0012c0013t0005g0035	3	362	0.0083	30	c.134 others(51): Show c.1340+14153_1340+14154insGTTTATATAGATAAATATACATGC ACATGT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80693313	A A	ATGTTTAT others(23): Show ATGTTTATATAGATAAATATACATGCACATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0031 a0031	a0031c0032 a0031c0032	a0031c0032t0004 a0031c0032t0004	a0031c0032t0004g0020 a0031c0032t0004g0020	1	362	0.0028	30	c.134 others(51): Show c.1340+14221_1340+14222insGTTTATATAGATAAATATACATGC ACATGT	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(23): Show TTTATTTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18962.hp2 NA20905.hp1 HG02818.hp1 NA18962.hp2 NA20905.hp1	a0003 a0008 a0015 a0003 a0008 a0015	a0003c0004 a0008c0010 a0015c0021 a0003c0004 a0008c0010 a0015c0021	a0003c0004t0004 a0008c0010t0009 a0015c0021t0004 a0003c0004t0004 a0008c0010t0009 a0015c0021t0004	a0003c0004t0004g0277 a0008c0010t0009g0211 a0015c0021t0004g0242 a0003c0004t0004g0277 a0008c0010t0009g0211 a0015c0021t0004g0242	3	362	0.0083	30	c.189 others(49): Show c.1896+1116_1896+1117insTTTATGTTATGTTATGTTATGTTATG TTAT	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(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18971.hp2 HG02698.hp1 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0155 a0001c0002t0001g0109 a0001c0002t0001g0155	2	362	0.0055	30	c.243 others(49): Show c.2436-3326_2436-3325insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80808858	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03209.hp1 HG00642.hp2 HG03209.hp1	a0014 a0022 a0014 a0022	a0014c0022 a0022c0044 a0014c0022 a0022c0044	a0014c0022t0004 a0022c0044t0004 a0014c0022t0004 a0022c0044t0004	a0014c0022t0004g0237 a0022c0044t0004g0256 a0014c0022t0004g0237 a0022c0044t0004g0256	2	362	0.0055	30	c.265 others(49): Show c.2656-4701_2656-4700insTATATATATATATATATATATATATA TATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80808858	C C	CATATATA others(23): Show CATATATATATATATATCTATATATATATCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0021 a0001c0002t0006g0021	1	362	0.0028	30	c.265 others(49): Show c.2656-4710_2656-4709insCTATATATATATCTATATATATATAT ATAT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80810172	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp2 HG02615.hp1 others(3): Show HG00280.hp1 HG01099.hp2 HG02615.hp1 HG02683.hp1 HG03017.hp1 NA20752.hp1	a0002 a0028 a0002 a0028	a0002c0003 a0028c0034 a0002c0003 a0028c0034	a0002c0003t0003 a0028c0034t0005 a0002c0003t0003 a0028c0034t0005	a0002c0003t0003g0193 a0002c0003t0003g0198 a0002c0003t0003g0205 others(3): Show a0002c0003t0003g0193 a0002c0003t0003g0198 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0028c0034t0005g0180	6	362	0.0166	30	c.265 others(49): Show c.2656-3389_2656-3388insTATATATATATATATATATATATATA TATA	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(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00738.hp2 others(3): Show HG00323.hp1 HG00423.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0095 others(3): Show a0002c0003t0001g0087 a0002c0003t0001g0088 a0002c0003t0001g0095 a0002c0003t0001g0110 a0002c0003t0001g0114 a0002c0003t0001g0126	6	332	0.0181	30	c.123 others(49): Show c.1230+5736_1230+5737insATATATATATATATATATATATATAT ATAT	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(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01255.hp1 others(23): Show HG00140.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp1 HG01433.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02602.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp2 NA18939.hp1 NA18944.hp2 NA18957.hp2 NA18959.hp1 NA18973.hp2 NA18979.hp1 NA19010.hp2 NA19060.hp1 NA19070.hp2 NA19079.hp2 NA19088.hp2 NA19089.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 others(23): Show a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0266 a0004c0007t0001g0175 a0004c0007t0001g0179 a0004c0007t0001g0180 a0004c0007t0001g0222 a0004c0007t0001g0225	26	332	0.0783	30	c.123 others(49): Show c.1230+5752_1230+5753insATATATATATATATATATATATATAT ATAT	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(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	332	0.0030	30	c.123 others(49): Show c.1230+5738_1230+5739insGTATATATATATATATATATATATAT ATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75907684	C C	CTCTCTAT others(23): Show CTCTCTATACATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG04184.hp2 HG04199.hp2 HG01981.hp2 HG04184.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0124 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0124	3	332	0.0090	30	c.262 others(49): Show c.2620-5011_2620-5010insCTCTATACATATATATATATATATAT ATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75907684	C C	CTCTCTCT others(23): Show CTCTCTCTATACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0330 a0001c0002t0004g0330	1	332	0.0030	30	c.262 others(49): Show c.2620-5011_2620-5010insCTCTCTATACATATATATATATATAT ATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75907684	C C	CTCTCTCT others(23): Show CTCTCTCTCTACATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0079 a0005c0006t0001g0079	1	332	0.0030	30	c.262 others(49): Show c.2620-5011_2620-5010insCTCTCTCTACATATATATATATATAT ATAT	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(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0069 a0003c0006t0001g0069	1	397	0.0025	30	c.766 others(45): Show c.766+766_766+795dupTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	MSH5	ENSG00000204410.16	transcript	ENST00000375750.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
MSH6_chr2_47778145_47811953	47788914	T T	TTTTTTTG others(23): Show TTTTTTTGTTTTTTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	390	0.0026	30	c.261 others(47): Show c.261-2007_261-2006insGTTTTTTTTTTTTGTTTTGTTTTGTTTT TT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH6_chr2_47778145_47811953	47788914	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	390	0.0026	30	c.261 others(47): Show c.261-2006_261-2005insTTTTTTTTTTTTGTTTTGTTTTGTTTTT TT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSI2_chr17_57251523_57689689	57502636	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	168	0.0060	30	c.406 others(49): Show c.406-27039_406-27038insTATATATATATATATATATATATATA TAGA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSLN_chr16_755734_773862	767808	C C	CGTGGAGG others(23): Show CGTGGAGGGGGGGCGCGTGGAGGGGGGGCGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0241 a0001c0001t0001g0244	2	388	0.0052	30	c.159 others(47): Show c.1596+349_1596+350insGCGCGTGGAGGGGGGGCGAGTGGAGGGG GG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767828	G G	GGGGCGTG others(23): Show GGGGCGTGGAGGAGGGGCGCGTGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	388	0.0026	30	c.159 others(47): Show c.1596+361_1596+362insCGTGGAGGAGGGGCGCGTGGAGGAGGAG GG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	768042	A A	AGGAGGAG others(23): Show AGGAGGAGGGGCGCATGGGGGGGTGTGTGAG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0317 a0002c0002t0002g0317	1	388	0.0026	30	c.159 others(47): Show c.1597-335_1597-334insAGGAGGGGCGCATGGGGGGGTGTGTGAG GG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769162	T T	TGGCCCCA others(23): Show TGGCCCCAGCCCCGGCCCCGGCCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	388	0.0026	30	c.42 others(39): Show c.429_*430insGGCCCCAGCCCCGGCCCCGGCCCCGGCCCC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		301		chr16	TogoVar
MSLN_chr16_755734_773862	769182	G G	GCCCCGGC others(23): Show GCCCCGGCCCCGGCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA18906.hp1 NA19043.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp2	a0006 a0021 a0006 a0021	a0006c0007 a0021c0043 a0006c0007 a0021c0043	a0006c0007t0001 a0021c0043t0001 a0006c0007t0001 a0021c0043t0001	a0006c0007t0001g0008 a0006c0007t0001g0026 a0021c0043t0001g0008 a0006c0007t0001g0008 a0006c0007t0001g0026 a0021c0043t0001g0008	3	388	0.0077	30	c.44 others(39): Show c.449_*450insCCCCGGCCCCGGCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		321		chr16	TogoVar
MSLN_chr16_755734_773862	769235	G G	GGCCCCGG others(23): Show GGCCCCGGCCCCAGCCCCAGCCCCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	388	0.0026	30	c.50 others(39): Show c.502_*503insGCCCCGGCCCCAGCCCCAGCCCCAGCCCCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		374		chr16	TogoVar
MSLN_chr16_755734_773862	769235	G G	GGCCCCGG others(23): Show GGCCCCGGCCCCGGCCCCGGCCCCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	388	0.0026	30	c.50 others(39): Show c.502_*503insGCCCCGGCCCCGGCCCCGGCCCCAGCCCCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		374		chr16	TogoVar
MSLN_chr16_755734_773862	769259	A A	ACCCCCAC others(23): Show ACCCCCACCCCCGGCCCCGGCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0293 a0002c0025t0002g0293	1	388	0.0026	30	c.52 others(39): Show c.526_*527insCCCCCACCCCCGGCCCCGGCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		398		chr16	TogoVar
MSMO1_chr4_165322669_165348164	165329625	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	462	0.0022	30	c.-32 others(47): Show c.-32+1888_-32+1889insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MSMO1	ENSG00000052802.13	transcript	ENST00000261507.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
MSR1_chr8_16102881_16197651	16103019	G G	GTATACAT others(23): Show GTATACATGTATACATATGTGTATGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0280 a0001c0001t0025g0280	1	330	0.0030	30	c.70 others(41): Show c.7065_*7066insTATACACATACACATATGTATACATGTATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding		4861		chr8	TogoVar
MSR1_chr8_16102881_16197651	16189731	A A	ATATATAT others(23): Show ATATATATAAAATCTTATTTTATATATATTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	330	0.0030	30	c.-5+ others(45): Show c.-5+2866_-5+2867insAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10155002	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA21309.hp2 HG02451.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0071 a0001c0001t0016g0073 a0001c0001t0004g0071 a0001c0001t0016g0073	2	286	0.0070	30	c.143 others(49): Show c.143-52819_143-52818insTATATATATATATATATATATATATA TATA	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(23): Show ACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	286	0.0035	30	c.332 others(49): Show c.332-18373_332-18372insACACACACACACTCTCTCTCTCTCTC TCTC	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(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19068.hp1 NA19077.hp1 others(1): Show NA19009.hp2 NA19068.hp1 NA19077.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0163 a0001c0001t0001g0280 a0001c0001t0003g0123 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0280 a0001c0001t0003g0123 a0001c0002t0002g0279	4	286	0.0140	30	c.543 others(49): Show c.543+43761_543+43790dupACACACACACACACACACACACACAC ACAC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10363738	C C	CCACACGC others(23): Show CCACACGCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	286	0.0035	30	c.543 others(49): Show c.543+43754_543+43755insGCACACACACACACACACACACACAC ACAC	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(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02895.hp1 HG01891.hp2 HG02055.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0026 a0001c0001t0003g0041 a0001c0001t0004g0059 a0001c0001t0003g0026 a0001c0001t0003g0041 a0001c0001t0004g0059	3	286	0.0105	30	c.544 others(49): Show c.544-10369_544-10368insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB1_chr16_1933229_1948199	1934084	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	448	0.0022	30	c.50 others(41): Show c.5027_*5028insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MSRB1	ENSG00000198736.13	transcript	ENST00000361871.8	protein_coding		4144		chr16	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTCTGT others(23): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0135	1	442	0.0023	30	c.118 others(45): Show c.118+627_118+628insCTCTGTGTGTGTGTGTGTGTGTGTGTGTGT	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(23): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	2	442	0.0045	30	c.118 others(45): Show c.118+627_118+628insCTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	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(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02280.hp1 HG02717.hp1 others(7): Show HG01433.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03453.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0141 a0001c0001t0001g0142 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0279 a0001c0001t0004g0298 a0001c0002t0002g0036	10	442	0.0226	30	c.118 others(45): Show c.118+647_118+648insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA19056.hp1 HG03942.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	398	0.0050	30	c.-10 others(41): Show c.-1006_-1005insTATATATATATATATATATATATATATATT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSX1_chr4_4854665_4868936	4858514	T T	TTTTTTAT others(23): Show TTTTTTATTATTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	440	0.0023	30	c.-13 others(41): Show c.-1386_-1385insTTTTTATTATTATTATTATTATTATTATTA	MSX1	ENSG00000163132.8	transcript	ENST00000382723.5	protein_coding		1150		chr4	TogoVar
MT3_chr16_56584528_56596085	56592142	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG02602.hp1 HG03017.hp2 others(4): Show HG01106.hp2 HG02602.hp1 HG03017.hp2 HG03831.hp2 NA18948.hp2 NA18967.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	7	438	0.0160	30	c.11 others(41): Show c.1193_*1194insATATATATATATATATATATATATATATAT	MT3	ENSG00000087250.9	transcript	ENST00000200691.5	protein_coding		1058		chr16	TogoVar
MTA3_chr2_42563632_42761946	42577105	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0082 a0001c0001t0014g0082	1	312	0.0032	30	c.97- others(45): Show c.97-2001_97-2000insAAAAAAAAAAAAAATATATATATATATATA	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01993.hp1 HG01978.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0195 a0001c0001t0002g0180 a0001c0001t0002g0195	2	312	0.0064	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATATATATATATAT TTTT	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(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03490.hp1 HG03492.hp2 others(1): Show HG02056.hp1 HG03490.hp1 HG03492.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0175 a0001c0001t0002g0176 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0197	4	312	0.0128	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATATATATATATTT TTTT	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(23): Show ATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	312	0.0032	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATATTTTTTTTTTT TTTT	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(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	312	0.0032	30	c.191 others(49): Show c.191-14729_191-14728insATATATATATATATTTTTTTTTTTTT TTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42647155	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAACAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0080 a0001c0001t0017g0080	1	312	0.0032	30	c.499 others(47): Show c.499+2923_499+2924insACAAAAAAAAAAAAAACAAAAAAAAAAA AA	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTAP_chr9_21797636_21872081	21802985	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02896.hp2 HG03654.hp2 others(7): Show HG01192.hp2 HG02896.hp2 HG03654.hp2 NA18962.hp1 NA18986.hp2 NA19007.hp1 NA19011.hp2 NA19060.hp1 NA19063.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0003t0001 a0002c0002t0004 a0002c0002t0048 a0002c0002t0052	a0001c0001t0001g0034 a0001c0001t0001g0345 a0001c0001t0005g0031 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0345 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0019g0033 a0001c0003t0001g0028 a0001c0003t0001g0029 a0002c0002t0004g0035 a0002c0002t0048g0030 a0002c0002t0052g0036	10	382	0.0262	30	c.33+ others(43): Show c.33+227_33+256dupACACACACACACACACACACACACACACAC	MTAP	ENSG00000099810.21	transcript	ENST00000644715.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar

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