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
MRI1_chr19_13759522_13779282	13764287	ACGTGGAA others(17): Show ACGTGGAATCCGCGTCCTGGGAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02615.hp1 others(10): Show HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03516.hp1 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0007 a0003c0003t0011	a0001c0001t0001g0018 a0001c0001t0001g0190 a0001c0001t0001g0196 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0002g0189 a0002c0002t0007g0010 a0002c0002t0007g0201 a0003c0003t0011g0185 a0003c0003t0011g0187	13	460	0.0283	-24	c.-30 others(33): Show c.-301_-278delCGTGGAATCCGCGTCCTGGGAACC	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding		234		chr19	TogoVar
MRI1_chr19_13759522_13779282	13764324	GTCCTGGG others(17): Show GTCCTGGGAACCCGTGGAATCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01358.hp2 HG01361.hp2 others(12): Show HG01175.hp2 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG02109.hp2 HG02132.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03579.hp1 HG03831.hp2 NA18906.hp2 NA18954.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 a0001c0005t0001 a0003c0003t0010	a0001c0001t0001g0230 a0001c0001t0001g0278 a0001c0001t0001g0314 others(11): Show a0001c0001t0001g0230 a0001c0001t0001g0278 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0002g0052 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0264 a0001c0001t0002g0324 a0001c0001t0004g0249 a0001c0001t0029g0073 a0001c0005t0001g0005 a0001c0005t0001g0056 a0003c0003t0010g0221	15	460	0.0326	-24	c.-26 others(33): Show c.-264_-241delTCCTGGGAACCCGTGGAATCCGCC	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding		197		chr19	TogoVar
MRI1_chr19_13759522_13779282	13764722	TGCAGCGG others(17): Show TGCAGCGGGGCGGCGGGGCGGCGGG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	460	0.0022	-24	c.132 others(36): Show c.132+5_132+28delAGCGGGGCGGCGGGGCGGCGGGGC	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRI1_chr19_13759522_13779282	13764725	AGCGGGGC others(17): Show AGCGGGGCGGCGGGGCGGCGGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp1 HG01070.hp2 others(73): Show HG00621.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18961.hp1 NA18978.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0030 a0001c0005t0001 a0002c0002t0007 a0002c0002t0008 a0003c0003t0010 a0010c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(56): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0209 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0231 a0001c0001t0002g0235 a0001c0001t0003g0054 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0004g0053 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0216 a0001c0001t0005g0054 a0001c0001t0009g0239 a0001c0001t0012g0220 a0001c0001t0015g0199 a0001c0001t0015g0237 a0001c0001t0015g0238 a0001c0001t0016g0208 a0001c0001t0030g0198 a0001c0005t0001g0005 a0001c0005t0001g0056 a0002c0002t0007g0201 a0002c0002t0008g0197 a0002c0002t0008g0205 a0003c0003t0010g0221 a0010c0011t0001g0200	76	460	0.1652	-24	c.132 others(37): Show c.132+64_133-64delGGGGCGGCGGGGCGGCGGGGCGGC	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRM2_chr7_2229195_2247205	2238977	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(101): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19075.hp1 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0026 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0162 a0001c0001t0001g0178 a0001c0001t0010g0038	104	430	0.2419	-24	c.298 others(39): Show c.298+417_298+440delTATATATATATATATATATATATA	MRM2	ENSG00000122687.19	transcript	ENST00000242257.14	protein_coding	2/2			chr7	TogoVar
MROH2A_chr2_233773330_233838418	233790451	CCCCTTCC others(17): Show CCCCTTCCTTCCTCCCTCCCTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0001 a0024c0042t0001	a0024c0042t0001g0188 a0024c0042t0001g0188	1	378	0.0027	-24	c.571 others(39): Show c.571+440_571+463delCTTCCTTCCTCCCTCCCTCCTTCC	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH9_chr1_170930534_171069765	171044972	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0001 a0019c0026t0001	a0019c0026t0001g0203 a0019c0026t0001g0203	1	226	0.0044	-24	c.228 others(45): Show c.2282-17136_2282-17113delTTTTTTTTTTTTTTTTTTTTTTTT	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL12_chr17_81698367_81712517	81698737	GTGTATGT others(17): Show GTGTATGTGCGAATACATGCGTCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-24	c.-47 others(35): Show c.-4764_-4741delTGTATGTGCGAATACATGCGTCTT	MRPL12	ENSG00000262814.8	transcript	ENST00000333676.8	protein_coding		4629		chr17	TogoVar
MRPL13_chr8_120390437_120450150	120400721	TAAATAAA others(17): Show TAAATAAATAAATAAATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	346	0.0029	-24	c.516 others(41): Show c.516-4620_516-4597delTTTTATTTATTTATTTATTTATTT	MRPL13	ENSG00000172172.8	transcript	ENST00000306185.8	protein_coding	6/6			chr8	TogoVar
MRPL17_chr11_6675385_6688340	6688068	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGCACGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG02004.hp2 HG02109.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02717.hp2 HG02895.hp1 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18983.hp1 NA18993.hp1 NA18995.hp2 NA19002.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19067.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0019 a0001c0003t0004 a0002c0002t0004 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0002g0003 a0001c0001t0003g0004 a0001c0001t0004g0005 a0001c0001t0005g0006 a0001c0001t0007g0007 a0001c0001t0015g0019 a0001c0001t0019g0031 a0001c0003t0004g0020 a0002c0002t0004g0018 a0004c0004t0001g0023	87	416	0.2091	-24	c.-47 others(35): Show c.-4796_-4773delACACGTGCACACACACACACACAC	MRPL17	ENSG00000158042.9	transcript	ENST00000288937.7	protein_coding		4729		chr11	TogoVar
MRPL2_chr6_43049029_43064434	43050549	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0027 a0001c0001t0004g0027	1	300	0.0033	-24	c.37 others(35): Show c.3701_*3724delGTGTGTGTGTGTGTGTGTGTGTGT	MRPL2	ENSG00000112651.12	transcript	ENST00000388752.8	protein_coding		3479		chr6	TogoVar
MRPL32_chr7_42927376_42942857	42930206	AACACACA others(17): Show AACACACACACACACACACGCACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	394	0.0051	-24	c.-21 others(35): Show c.-2180_-2157delACACACACACACACACACGCACAC	MRPL32	ENSG00000106591.4	transcript	ENST00000223324.3	protein_coding		2169		chr7	TogoVar
MRPL34_chr19_17300872_17311843	17302327	TCATTCAG others(17): Show TCATTCAGGTATACACTAACTCATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01099.hp1 HG03942.hp1 HG00280.hp2 HG01099.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	3	382	0.0079	-24	c.-35 others(35): Show c.-3565_-3542delCATTCAGGTATACACTAACTCATC	MRPL34	ENSG00000130312.7	transcript	ENST00000252602.2	protein_coding		3544		chr19	TogoVar
MRPL41_chr9_137546879_137557555	137548731	GAGCGAGA others(17): Show GAGCGAGACTCCATCTCAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-24	c.-32 others(35): Show c.-3255_-3232delAGCGAGACTCCATCTCAAAAAAAA	MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding		3147		chr9	TogoVar
MRPL42_chr12_93462514_93521214	93484977	CACATATA others(17): Show CACATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02615.hp2 others(8): Show HG01109.hp1 HG01884.hp1 HG02615.hp2 HG02647.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0027 a0001c0001t0181 others(3): Show a0001c0001t0019 a0001c0001t0027 a0001c0001t0181 a0001c0001t0182 a0001c0001t0183 a0001c0001t0184	a0001c0001t0019g0013 a0001c0001t0019g0042 a0001c0001t0027g0043 others(6): Show a0001c0001t0019g0013 a0001c0001t0019g0042 a0001c0001t0027g0043 a0001c0001t0027g0299 a0001c0001t0027g0300 a0001c0001t0181g0303 a0001c0001t0182g0042 a0001c0001t0183g0298 a0001c0001t0184g0043	11	388	0.0284	-24	c.220 others(41): Show c.220-2518_220-2495delCATATATATATATATATATATATA	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPL42_chr12_93462514_93521214	93484979	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0115 a0001c0001t0146g0115	1	388	0.0026	-24	c.220 others(41): Show c.220-2492_220-2469delTATATATATATATATATATATATA	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPL42_chr12_93462514_93521214	93518627	TGTGCCCG others(17): Show TGTGCCCGGCCGAGAATTATTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0195 a0001c0001t0007g0195	1	388	0.0026	-24	c.17 others(37): Show c.17407_*17430delGTGCCCGGCCGAGAATTATTTTTA	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding		2414		chr12	TogoVar
MRPL45_chr17_38292168_38328211	38313344	ATACGTAT others(17): Show ATACGTATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0204 a0002c0002t0002g0204	1	287	0.0035	-24	c.462 others(41): Show c.462-5340_462-5317delCGTATATATATATATATATACGTA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPL53_chr2_74466982_74477680	74476044	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02647.hp2 others(2): Show HG01167.hp1 HG01169.hp2 HG02647.hp2 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	384	0.0130	-24	c.-34 others(35): Show c.-3408_-3385delGTGTGTGTGTGTGTGTGTGTGTGT	MRPL53	ENSG00000204822.7	transcript	ENST00000258105.8	protein_coding		3365		chr2	TogoVar
MRPS14_chr1_175007958_175028425	175027193	ATATATAT others(17): Show ATATATATATTGAATATATATATTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG03098.hp1 others(2): Show HG02109.hp1 HG02630.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0097 a0001c0001t0004g0011 a0001c0001t0004g0097	5	398	0.0126	-24	c.-38 others(35): Show c.-3809_-3786delGAATATATATATTCAATATATATA	MRPS14	ENSG00000120333.4	transcript	ENST00000476371.1	protein_coding		3769		chr1	TogoVar
MRPS28_chr8_79913717_80035259	79991909	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	300	0.0033	-24	c.395 others(43): Show c.395+11066_395+11089delAGAGAGAGAGAGAGAGAGAGAGAG	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	2/2			chr8	TogoVar
MRPS31_chr13_40724128_40776190	40762782	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA19240.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	404	0.0050	-24	c.441 others(41): Show c.441-3700_441-3677delCACACACACACACACACACACACA	MRPS31	ENSG00000102738.8	transcript	ENST00000323563.8	protein_coding	2/6			chr13	TogoVar
MRPS31_chr13_40724128_40776190	40769373	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG03927.hp2 HG02273.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0278 a0002c0003t0001g0277 a0001c0001t0001g0278 a0002c0003t0001g0277	2	404	0.0050	-24	c.152 others(41): Show c.152+1588_152+1611delATATATATATATATATATATATAT	MRPS31	ENSG00000102738.8	transcript	ENST00000323563.8	protein_coding	1/6			chr13	TogoVar
MRTFA_chr22_40405289_40641719	40459822	CATATATA others(17): Show CATATATACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	256	0.0039	-24	c.307 others(41): Show c.307+3375_307+3398delATATATATATATATATGTATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40470229	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG01123.hp2 others(23): Show HG00280.hp1 HG00558.hp1 HG01123.hp2 HG01255.hp1 HG01358.hp1 HG01934.hp2 HG01952.hp1 HG02071.hp1 HG02165.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp1 NA18939.hp2 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18979.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19080.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0002 a0001c0011t0005 a0001c0019t0002	a0001c0001t0001g0037 a0001c0001t0002g0017 a0001c0001t0002g0020 others(23): Show a0001c0001t0001g0037 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0225 a0001c0001t0005g0043 a0001c0001t0005g0047 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0003t0001g0075 a0001c0004t0001g0049 a0001c0005t0002g0018 a0001c0011t0005g0045 a0001c0011t0005g0051 a0001c0019t0002g0040	26	256	0.1016	-24	c.242 others(41): Show c.242-6967_242-6944delTATATATATATATATATATATAAA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40470231	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0244 a0001c0006t0001g0244	1	256	0.0039	-24	c.242 others(41): Show c.242-6969_242-6946delTATATATATATATATATATATATA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40501438	CAGTAGGG others(17): Show CAGTAGGGGCGGCCGGGCAGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18966.hp1 HG02129.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0061 a0001c0001t0003g0062	2	256	0.0078	-24	c.242 others(43): Show c.242-38176_242-38153delCGCCTCTGCCCGGCCGCCCCTACT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537641	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	256	0.0039	-24	c.241 others(43): Show c.241+14441_241+14464delAGTAGGGGCGGCCGGGCAGAGGCG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40569716	AATACATA others(17): Show AATACATACATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03239.hp2 HG00741.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0068 a0001c0016t0001g0208 a0001c0001t0001g0068 a0001c0016t0001g0208	2	256	0.0078	-24	c.-21 others(43): Show c.-21-17373_-21-17350delGTATGTATGTATGTATGTATGTAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	2/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFB_chr16_14066319_14271773	14127911	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp2 HG02559.hp1 others(5): Show HG01496.hp2 HG02055.hp2 HG02559.hp1 HG02717.hp1 HG03130.hp1 HG03139.hp2 HG03579.hp2 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0009 a0001c0001t0014 a0001c0001t0034 others(2): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0034 a0001c0001t0035 a0007c0008t0003	a0001c0001t0009g0072 a0001c0001t0009g0074 a0001c0001t0009g0076 others(5): Show a0001c0001t0009g0072 a0001c0001t0009g0074 a0001c0001t0009g0076 a0001c0001t0014g0070 a0001c0001t0014g0077 a0001c0001t0034g0078 a0001c0001t0035g0073 a0007c0008t0003g0075	8	240	0.0333	-24	c.-63 others(43): Show c.-63-12631_-63-12608delATATATATATATATATATTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14127913	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02572.hp1 others(6): Show HG01891.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02809.hp1 HG03130.hp2 HG03471.hp2 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0001t0009 a0001c0012t0003 a0001c0001t0003 a0001c0001t0009 a0001c0012t0003	a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 others(6): Show a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0104 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0009g0071 a0001c0001t0009g0105 a0001c0012t0003g0108	9	240	0.0375	-24	c.-63 others(43): Show c.-63-12629_-63-12606delATATATATATATATATTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14127917	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03209.hp1 HG02486.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0030 a0001c0001t0017 a0001c0001t0030	a0001c0001t0017g0225 a0001c0001t0030g0212 a0001c0001t0017g0225 a0001c0001t0030g0212	2	240	0.0083	-24	c.-63 others(43): Show c.-63-12625_-63-12602delATATATATATATTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14127919	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02897.hp2 HG02572.hp2 HG02615.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016	a0001c0001t0010g0230 a0001c0001t0015g0226 a0001c0001t0016g0227 a0001c0001t0010g0230 a0001c0001t0015g0226 a0001c0001t0016g0227	3	240	0.0125	-24	c.-63 others(43): Show c.-63-12623_-63-12600delATATATATATTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A14_chr11_60391459_60422756	60418985	ATATATAT others(17): Show ATATATATATATATATATATGTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01106.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0156 a0002c0002t0001g0002 a0002c0002t0001g0156	2	428	0.0047	-24	c.19 others(35): Show c.1978_*2001delTATATATATATATATATATGTATG	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		1230		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60419011	ATATATAT others(17): Show ATATATATATATATATATATGTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 NA19067.hp2 HG04199.hp2 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0001 a0001c0005t0001 a0002c0002t0001	a0001c0005t0001g0034 a0002c0002t0001g0007 a0001c0005t0001g0034 a0002c0002t0001g0007	2	428	0.0047	-24	c.20 others(35): Show c.2004_*2027delTATATATATATATATATATGTATG	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		1256		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60419028	TATGTATG others(17): Show TATGTATGTATATATATATATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01167.hp2 others(33): Show HG00621.hp1 HG00741.hp2 HG01167.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02300.hp2 HG02735.hp2 HG03492.hp2 HG03688.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18947.hp2 NA18951.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18971.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18989.hp1 NA18999.hp1 NA19000.hp2 NA19063.hp2 NA19066.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0005 a0002c0002 a0014c0014 a0001c0005 a0002c0002 a0014c0014	a0001c0005t0001 a0002c0002t0001 a0014c0014t0001 a0001c0005t0001 a0002c0002t0001 a0014c0014t0001	a0001c0005t0001g0034 a0002c0002t0001g0002 a0002c0002t0001g0007 others(13): Show a0001c0005t0001g0034 a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0118 a0002c0002t0001g0136 a0002c0002t0001g0138 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0014c0014t0001g0002	36	428	0.0841	-24	c.20 others(35): Show c.2021_*2044delATGTATGTATATATATATATATAG	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		1273		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60419030	TGTATGTA others(17): Show TGTATGTATATATATATATATAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG01081.hp1 others(4): Show HG00597.hp1 HG01074.hp1 HG01081.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 NA19072.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0017 a0002c0002 a0011c0017	a0002c0002t0001 a0011c0017t0001 a0002c0002t0001 a0011c0017t0001	a0002c0002t0001g0002 a0002c0002t0001g0137 a0011c0017t0001g0134 a0002c0002t0001g0002 a0002c0002t0001g0137 a0011c0017t0001g0134	7	428	0.0164	-24	c.20 others(35): Show c.2023_*2046delGTATGTATATATATATATATAGAG	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		1275		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60421415	TAGATGAT others(17): Show TAGATGATAGATAGATAGATAGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG03471.hp2 HG02886.hp1 HG03471.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0010 a0002c0002 a0006c0010	a0002c0002t0004 a0006c0010t0001 a0002c0002t0004 a0006c0010t0001	a0002c0002t0004g0047 a0006c0010t0001g0029 a0002c0002t0004g0047 a0006c0010t0001g0029	2	428	0.0047	-24	c.44 others(35): Show c.4408_*4431delAGATGATAGATAGATAGATAGATA	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		3660		chr11	TogoVar
MS4A14_chr11_60391459_60422756	60421418	ATGATAGA others(17): Show ATGATAGATAGATAGATAGATAGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02055.hp1 HG02083.hp2 others(13): Show HG00438.hp1 HG02055.hp1 HG02083.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG03098.hp2 HG03486.hp1 HG04184.hp2 NA19001.hp1 NA19005.hp1 NA19030.hp1 NA19064.hp1	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0012 a0008c0021 others(1): Show a0001c0001 a0001c0012 a0008c0021 a0009c0019	a0001c0001t0001 a0001c0012t0001 a0008c0021t0001 others(1): Show a0001c0001t0001 a0001c0012t0001 a0008c0021t0001 a0009c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0081 a0001c0001t0001g0107 a0001c0001t0001g0117 a0001c0012t0001g0003 a0008c0021t0001g0044 a0009c0019t0001g0044	16	428	0.0374	-24	c.44 others(35): Show c.4411_*4434delTGATAGATAGATAGATAGATAGAT	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding		3663		chr11	TogoVar
MS4A4A_chr11_60275666_60313970	60294892	ACTTCTTC others(17): Show ACTTCTTCTTCTTCTTCTTCTTCTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	430	0.0023	-24	c.202 others(41): Show c.202-2269_202-2246delTCTTCTTCTTCTTCTTCTTCTTCT	MS4A4A	ENSG00000110079.19	transcript	ENST00000337908.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A6E_chr11_60322255_60346341	60342170	TGTGTGTG others(17): Show TGTGTGTGTGAGAGAGAGAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	450	0.0022	-24	c.14 others(35): Show c.1405_*1428delGTGTGTGTGAGAGAGAGAGAGAGA	MS4A6E	ENSG00000166926.9	transcript	ENST00000684409.1	protein_coding		830		chr11	TogoVar
MSC_chr8_71836560_71849412	71843031	AACACACA others(17): Show AACACACACACACACACACGCACAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02922.hp1 others(4): Show HG02486.hp2 HG02559.hp1 HG02922.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	7	472	0.0148	-24	c.535 others(39): Show c.535-308_535-285delGTGTGCGTGTGTGTGTGTGTGTGT	MSC	ENSG00000178860.9	transcript	ENST00000325509.5	protein_coding	1/1			chr8	TogoVar
MSH3_chr5_80649652_80881815	80691887	GTGTATAT others(17): Show GTGTATATGTTTATATAGATAAACA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19077.hp1 HG02015.hp1 NA19077.hp1	a0003 a0007 a0003 a0007	a0003c0004 a0007c0008 a0003c0004 a0007c0008	a0003c0004t0004 a0007c0008t0010 a0003c0004t0004 a0007c0008t0010	a0003c0004t0004g0240 a0007c0008t0010g0052 a0003c0004t0004g0240 a0007c0008t0010g0052	2	362	0.0055	-24	c.134 others(45): Show c.1340+12879_1340+12902delTATAGATAAACATGTATATGTTTA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80691972	TATAGATA others(17): Show TATAGATAAACATGTATATGTTTAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 NA21309.hp2 HG02257.hp2 HG02451.hp1 NA21309.hp2	a0020 a0037 a0020 a0037	a0020c0016 a0037c0027 a0020c0016 a0037c0027	a0020c0016t0005 a0037c0027t0023 a0020c0016t0005 a0037c0027t0023	a0020c0016t0005g0009 a0020c0016t0005g0010 a0037c0027t0023g0019 a0020c0016t0005g0009 a0020c0016t0005g0010 a0037c0027t0023g0019	3	362	0.0083	-24	c.134 others(45): Show c.1340+12915_1340+12938delTGTATATGTTTAGATAGATAAACA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80819338	GTGTGTGT others(17): Show GTGTGTGTATATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02486.hp2 others(3): Show HG02257.hp2 HG02451.hp1 HG02486.hp2 HG02809.hp1 HG02965.hp1 NA19043.hp2	a0007 a0020 a0007 a0020	a0007c0008 a0020c0016 a0007c0008 a0020c0016	a0007c0008t0005 a0007c0008t0027 a0020c0016t0005 a0007c0008t0005 a0007c0008t0027 a0020c0016t0005	a0007c0008t0005g0016 a0007c0008t0005g0017 a0007c0008t0005g0342 others(3): Show a0007c0008t0005g0016 a0007c0008t0005g0017 a0007c0008t0005g0342 a0007c0008t0027g0031 a0020c0016t0005g0009 a0020c0016t0005g0010	6	362	0.0166	-24	c.281 others(43): Show c.2813+5615_2813+5638delATATATATGTGTGTATATATATGT	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75902673	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00642.hp2 others(6): Show HG00323.hp2 HG00438.hp1 HG00642.hp2 HG00741.hp1 HG01175.hp1 HG01261.hp2 HG02602.hp1 HG03471.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0010 a0001c0002 a0001c0004 a0001c0010	a0001c0002t0006 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0002t0006 a0001c0004t0001 a0001c0004t0002 a0001c0010t0001	a0001c0002t0006g0293 a0001c0004t0001g0012 a0001c0004t0001g0013 others(6): Show a0001c0002t0006g0293 a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0014 a0001c0004t0001g0061 a0001c0004t0001g0069 a0001c0004t0002g0060 a0001c0004t0002g0063 a0001c0010t0001g0048	9	332	0.0271	-24	c.261 others(43): Show c.2619+3006_2619+3029delTATATATATATATATATATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH6_chr2_47778145_47811953	47788900	CTTCTTCC others(17): Show CTTCTTCCTTTTTTTTTTTTTTGTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	390	0.0026	-24	c.261 others(41): Show c.261-2024_261-2001delCTTCCTTTTTTTTTTTTTTGTTTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSI2_chr17_57251523_57689689	57526356	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03710.hp1 NA18994.hp2 others(1): Show HG02165.hp2 HG03710.hp1 NA18994.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0029 a0001c0001t0038 a0001c0001t0016 a0001c0001t0029 a0001c0001t0038	a0001c0001t0016g0154 a0001c0001t0016g0155 a0001c0001t0029g0149 others(1): Show a0001c0001t0016g0154 a0001c0001t0016g0155 a0001c0001t0029g0149 a0001c0001t0038g0164	4	168	0.0238	-24	c.406 others(41): Show c.406-3290_406-3267delTGTGTGTGTGTGTGTGTGTGTGTG	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSL1_chr17_40116971_40141917	40118724	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02976.hp2 HG03041.hp1 HG02723.hp2 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	3	356	0.0084	-24	c.-38 others(35): Show c.-3888_-3865delATATATATATATATATATATATAT	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3246		chr17	TogoVar
MSL2_chr3_136143917_136201335	136160325	AGGAGGGA others(17): Show AGGAGGGAAGGAAGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03041.hp1 HG02818.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0183 a0001c0001t0010g0184 a0001c0001t0010g0183 a0001c0001t0010g0184	2	310	0.0065	-24	c.143 others(41): Show c.143-7611_143-7588delCTCCCTCCCTCCTTCCTTCCCTCC	MSL2	ENSG00000174579.5	transcript	ENST00000309993.3	protein_coding	1/1			chr3	TogoVar

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