Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MDGA1_chr6_37625679_37702883	37698156	TTCTCTTT others(23): Show TTCTCTTTCTCTTTCTCTTTCTCTTTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03486.hp1 HG03540.hp2 HG02717.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0003t0037 a0001c0003t0047 a0001c0001t0022 a0001c0003t0037 a0001c0003t0047	a0001c0001t0022g0024 a0001c0003t0037g0042 a0001c0003t0047g0022 a0001c0001t0022g0024 a0001c0003t0037g0042 a0001c0003t0047g0022	3	402	0.0075	-30	c.-13 others(41): Show c.-1375_-1346delGAGAGAAAGAGAAAGAGAAAGAGAAAGAGA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		274		chr6	TogoVar
MDGA2_chr14_46835092_47680605	46933799	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0095 a0001c0001t0014g0096 a0001c0001t0014g0095 a0001c0001t0014g0096	2	120	0.0167	-30	c.209 others(51): Show c.2090-13669_2090-13640delATATATATATATATATATATATAT ATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	9/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	46969930	TTCCATAT others(23): Show TTCCATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0025 a0002c0002t0019g0025	1	120	0.0083	-30	c.182 others(51): Show c.1820-12317_1820-12288delTATATATATATATATATATATATA TATGGA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	8/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47286807	ATATATAT others(23): Show ATATATATATATATATATACATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02818.hp1 HG02965.hp2	a0002 a0003 a0002 a0003	a0002c0010 a0003c0004 a0002c0010 a0003c0004	a0002c0010t0005 a0003c0004t0024 a0002c0010t0005 a0003c0004t0024	a0002c0010t0005g0119 a0003c0004t0024g0032 a0002c0010t0005g0119 a0003c0004t0024g0032	2	120	0.0167	-30	c.420 others(49): Show c.420+14574_420+14603delCATATATATATGTATATATATATATA TATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47323149	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01167.hp2 HG02145.hp1 others(6): Show HG01069.hp2 HG01167.hp2 HG02145.hp1 HG02257.hp2 HG02976.hp2 HG03017.hp2 HG04184.hp1 HG04199.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0026	a0001c0001t0001g0047 a0001c0001t0001g0111 a0001c0001t0002g0088 others(6): Show a0001c0001t0001g0047 a0001c0001t0001g0111 a0001c0001t0002g0088 a0001c0001t0003g0038 a0001c0001t0003g0057 a0001c0001t0003g0070 a0001c0001t0003g0118 a0001c0001t0017g0011 a0001c0001t0026g0117	9	120	0.0750	-30	c.281 others(49): Show c.281-21629_281-21600delATATATATATATATATATATATATAT ATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDH2_chr7_76043106_76072508	76046274	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02809.hp1 NA20805.hp2 HG00438.hp1 HG02809.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0002 a0001c0010 a0002c0002	a0001c0010t0003 a0002c0002t0002 a0001c0010t0003 a0002c0002t0002	a0001c0010t0003g0081 a0002c0002t0002g0001 a0002c0002t0002g0013 a0001c0010t0003g0081 a0002c0002t0002g0001 a0002c0002t0002g0013	3	398	0.0075	-30	c.-18 others(41): Show c.-1886_-1857delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1831		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046311	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA19058.hp1 NA19088.hp2 NA18973.hp1 NA19058.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0041 a0002c0002t0002g0004 a0002c0002t0002g0041	3	398	0.0075	-30	c.-18 others(41): Show c.-1849_-1820delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1794		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046313	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	398	0.0025	-30	c.-18 others(41): Show c.-1847_-1818delGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1792		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046315	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	398	0.0025	-30	c.-18 others(41): Show c.-1845_-1816delGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1790		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046317	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03225.hp2 HG00099.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0102 a0001c0001t0001g0038 a0001c0001t0001g0102	2	398	0.0050	-30	c.-18 others(41): Show c.-1843_-1814delGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1788		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046319	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01070.hp1 HG01192.hp2 others(7): Show HG00423.hp2 HG01070.hp1 HG01192.hp2 HG01496.hp1 HG02738.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0021 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0097 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0206 a0001c0001t0001g0218	10	398	0.0251	-30	c.-18 others(41): Show c.-1841_-1812delGTGTGTGTGTGTGTGTGTGTGCGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1786		chr7	TogoVar
MDH2_chr7_76043106_76072508	76046321	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	398	0.0025	-30	c.-18 others(41): Show c.-1839_-1810delGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	MDH2	ENSG00000146701.12	transcript	ENST00000315758.10	protein_coding		1784		chr7	TogoVar
ME1_chr6_83205402_83436051	83263745	CAACATAA others(23): Show CAACATAACATAACATAACATAACATAACAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00597.hp2 others(71): Show HG00140.hp1 HG00323.hp1 HG00597.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG04204.hp2 NA18939.hp2 NA18941.hp2 NA18948.hp2 NA18960.hp1 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0003t0004 a0001c0005t0002 a0007c0009t0001	a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0068 others(71): Show a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0002g0013 a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0092 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0268 a0001c0001t0003g0271 a0001c0001t0010g0225 a0001c0002t0001g0005 a0001c0002t0001g0032 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0091 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0103 a0001c0002t0001g0108 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0132 a0001c0002t0001g0136 a0001c0002t0001g0159 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0201 a0001c0002t0004g0174 a0001c0002t0004g0209 a0001c0002t0006g0231 a0001c0002t0006g0261 a0001c0002t0007g0104 a0001c0002t0008g0148 a0001c0002t0009g0095 a0001c0003t0004g0012 a0001c0003t0004g0021 a0001c0003t0004g0184 a0001c0003t0004g0210 a0001c0005t0002g0028 a0007c0009t0001g0088	74	272	0.2721	-30	c.705 others(49): Show c.705-10037_705-10008delATGTTATGTTATGTTATGTTATGTTA TGTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83281823	AAAAAAAA others(23): Show AAAAAAAAAAAAAGAAAAGAAAACAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18946.hp1 NA18967.hp1 others(1): Show NA18939.hp1 NA18946.hp1 NA18967.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0137 others(1): Show a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0137 a0001c0002t0001g0138	4	272	0.0147	-30	c.705 others(49): Show c.705-28115_705-28086delCTTTTTTGTTTTCTTTTCTTTTTTTT TTTT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	6/13			chr6	TogoVar
ME2_chr18_50874118_50959257	50959178	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02145.hp1 HG02559.hp1 others(3): Show HG01361.hp1 HG02145.hp1 HG02559.hp1 HG02809.hp2 HG03225.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0107 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0107 a0002c0002t0023 a0002c0002t0150	a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0010g0048 others(3): Show a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0010g0048 a0001c0001t0107g0202 a0002c0002t0023g0174 a0002c0002t0150g0179	6	342	0.0175	-30	c.11 others(43): Show c.11995_*12024delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	ME2	ENSG00000082212.13	transcript	ENST00000321341.11	protein_coding		4922		chr18	TogoVar
ME3_chr11_86436108_86677616	86661831	AGTATTGT others(23): Show AGTATTGTATTGTATTGTATTGTATTGTATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02717.hp1 HG02897.hp1 others(2): Show HG01070.hp1 HG02717.hp1 HG02897.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0177 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0006t0001g0046	5	320	0.0156	-30	c.183 others(47): Show c.183+9901_183+9930delAATACAATACAATACAATACAATACAAT AC	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169183761	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0022 a0001c0001t0011g0022	1	160	0.0063	-30	c.376 others(49): Show c.376-39959_376-39930delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169191710	AAGAAAGA others(23): Show AAGAAAGAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02630.hp2 HG03098.hp1 others(3): Show HG01099.hp2 HG02630.hp2 HG03098.hp1 HG03471.hp2 HG03486.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0004t0002 a0001c0006t0003	a0001c0001t0004g0060 a0001c0001t0006g0124 a0001c0001t0008g0111 others(3): Show a0001c0001t0004g0060 a0001c0001t0006g0124 a0001c0001t0008g0111 a0001c0001t0011g0023 a0001c0004t0002g0082 a0001c0006t0003g0035	6	160	0.0375	-30	c.376 others(49): Show c.376-47908_376-47879delCTTTCTTTCTTTCTTTCTTTTTTTCT TTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169477095	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0156 a0001c0001t0051g0156	1	160	0.0063	-30	c.38- others(47): Show c.38-95601_38-95572delTATATATATATATATATATACACACACA CA	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151081299	CTCCCTTC others(23): Show CTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG02071.hp2 HG02135.hp1 others(12): Show HG01257.hp1 HG02071.hp2 HG02135.hp1 HG02486.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG03139.hp2 HG03516.hp1 HG04228.hp2 HG06807.hp1 NA18971.hp2 NA18972.hp2 NA19010.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0001c0004 a0001c0005 others(8): Show a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0015 a0001c0017 a0001c0020 a0001c0024 a0001c0035 a0002c0021 a0007c0028	a0001c0002t0001 a0001c0004t0023 a0001c0004t0055 others(11): Show a0001c0002t0001 a0001c0004t0023 a0001c0004t0055 a0001c0005t0001 a0001c0005t0005 a0001c0009t0010 a0001c0015t0056 a0001c0017t0024 a0001c0017t0052 a0001c0020t0001 a0001c0024t0002 a0001c0035t0001 a0002c0021t0003 a0007c0028t0054	a0001c0002t0001g0273 a0001c0004t0023g0179 a0001c0004t0055g0003 others(12): Show a0001c0002t0001g0273 a0001c0004t0023g0179 a0001c0004t0055g0003 a0001c0005t0001g0235 a0001c0005t0005g0271 a0001c0009t0010g0238 a0001c0015t0056g0007 a0001c0017t0024g0002 a0001c0017t0052g0001 a0001c0020t0001g0017 a0001c0024t0002g0115 a0001c0024t0002g0116 a0001c0035t0001g0278 a0002c0021t0003g0183 a0007c0028t0054g0006	15	280	0.0536	-30	c.-47 others(41): Show c.-4766_-4737delTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding		4364		chr3	TogoVar
MED12L_chr3_151080664_151441653	151368604	TATTTTAT others(23): Show TATTTTATTTTATTTTATTTTATTTTATTTC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03453.hp2 HG03490.hp1 others(1): Show HG00741.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0007 a0003c0006 a0001c0002 a0001c0007 a0003c0006	a0001c0002t0002 a0001c0007t0032 a0003c0006t0003 a0001c0002t0002 a0001c0007t0032 a0003c0006t0003	a0001c0002t0002g0220 a0001c0007t0032g0032 a0003c0006t0003g0102 others(1): Show a0001c0002t0002g0220 a0001c0007t0032g0032 a0003c0006t0003g0102 a0003c0006t0003g0152	4	280	0.0143	-30	c.355 others(47): Show c.3550+358_3550+387delTATTTTATTTTATTTTATTTTATTTCAT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12L_chr3_151080664_151441653	151368677	GTCATTTC others(23): Show GTCATTTCATTTTATTTCATTTCATTTCATT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01496.hp2 HG02559.hp2 others(4): Show HG01255.hp1 HG01496.hp2 HG02559.hp2 HG02572.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0009 a0001c0013 a0001c0007 a0001c0009 a0001c0013	a0001c0007t0032 a0001c0009t0012 a0001c0009t0037 others(1): Show a0001c0007t0032 a0001c0009t0012 a0001c0009t0037 a0001c0013t0002	a0001c0007t0032g0032 a0001c0009t0012g0133 a0001c0009t0012g0135 others(4): Show a0001c0007t0032g0032 a0001c0009t0012g0133 a0001c0009t0012g0135 a0001c0009t0012g0175 a0001c0009t0012g0176 a0001c0009t0037g0174 a0001c0013t0002g0258	7	280	0.0250	-30	c.355 others(47): Show c.3550+438_3550+467delTATTTCATTTCATTTCATTTCATTTCAT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MED12_chrX_71113596_71147450	71132767	CCTCTTCT others(23): Show CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(15): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG02074.hp1 HG02630.hp2 HG02683.hp1 HG03579.hp1 HG03669.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0005 a0005c0022 a0001c0002 a0002c0005 a0005c0022	a0001c0002t0001 a0002c0005t0001 a0005c0022t0001 a0001c0002t0001 a0002c0005t0001 a0005c0022t0001	a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0144 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0010 a0001c0002t0001g0144 a0001c0002t0001g0146 a0002c0005t0001g0006 a0002c0005t0001g0145 a0005c0022t0001g0010	18	273	0.0659	-30	c.441 others(45): Show c.4416-45_4416-16delCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	31/44		INFO_REALIGN_3_PRIME	chrX	TogoVar
MED13L_chr12_115953576_116282693	116031675	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0033 a0007c0015t0001g0033	1	254	0.0039	-30	c.480 others(47): Show c.480-9104_480-9075delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TT	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	4/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116102691	CTTTTTCT others(23): Show CTTTTTCTTTTTCTTTTTTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00423.hp2 others(51): Show HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01168.hp2 HG01346.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02293.hp1 HG02451.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03209.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18939.hp2 NA18949.hp1 NA18950.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18977.hp2 NA18981.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19087.hp1 NA19090.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0013 others(2): Show a0001c0002 a0001c0006 a0001c0013 a0001c0014 a0002c0007	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(5): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0011 a0001c0006t0002 a0001c0013t0001 a0001c0014t0002 a0002c0007t0002	a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0047 others(51): Show a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0116 a0001c0002t0002g0119 a0001c0002t0002g0156 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0237 a0001c0002t0006g0008 a0001c0002t0006g0010 a0001c0002t0006g0022 a0001c0002t0009g0030 a0001c0002t0009g0031 a0001c0002t0011g0124 a0001c0006t0002g0036 a0001c0006t0002g0037 a0001c0013t0001g0225 a0001c0014t0002g0079 a0002c0007t0002g0088	54	254	0.2126	-30	c.396 others(47): Show c.396-5969_396-5940delAAAAAAAAAAAGAAAAAAGAAAAAGAAA AA	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	3/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116120469	TCTCTCTC others(23): Show TCTCTCTCTCACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18986.hp1 HG00558.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0056 a0001c0002t0002g0057	2	254	0.0079	-30	c.311 others(47): Show c.311-8987_311-8958delTGTGTGTGTGTGTGTGTGTGTGAGAGAG AG	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116185652	GCTTTTCT others(23): Show GCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG03225.hp1 others(1): Show HG02630.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0007c0015t0001 a0001c0001t0001 a0007c0015t0001	a0001c0001t0001g0035 a0001c0001t0001g0163 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0163 a0001c0001t0001g0208 a0007c0015t0001g0033	4	254	0.0158	-30	c.310 others(49): Show c.310+51786_310+51815delAAAAGAAAAGAAAAGAAAAGAAAAGA AAAG	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED13L_chr12_115953576_116282693	116228476	GCCCAACT others(23): Show GCCCAACTACTGCTTTTCTTTTCTGCAGAGA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	254	0.0039	-30	c.310 others(47): Show c.310+8962_310+8991delTCTCTGCAGAAAAGAAAAGCAGTAGTTG GG	MED13L	ENSG00000123066.9	transcript	ENST00000281928.9	protein_coding	2/30			chr12	TogoVar
MED16_chr19_862963_898187	892655	CTCTCCAG others(23): Show CTCTCCAGGCCCCGCACCGATAACCCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01099.hp2 others(13): Show HG00673.hp1 HG01070.hp1 HG01099.hp2 HG01258.hp2 HG02451.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG04199.hp1 NA18995.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0004 a0001c0014 a0001c0017 others(8): Show a0001c0004 a0001c0014 a0001c0017 a0002c0003 a0002c0007 a0002c0020 a0002c0022 a0003c0021 a0007c0019 a0008c0018 a0009c0024	a0001c0004t0001 a0001c0014t0003 a0001c0017t0001 others(8): Show a0001c0004t0001 a0001c0014t0003 a0001c0017t0001 a0002c0003t0001 a0002c0007t0001 a0002c0020t0001 a0002c0022t0001 a0003c0021t0001 a0007c0019t0001 a0008c0018t0006 a0009c0024t0003	a0001c0004t0001g0016 a0001c0014t0003g0002 a0001c0017t0001g0003 others(13): Show a0001c0004t0001g0016 a0001c0014t0003g0002 a0001c0017t0001g0003 a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0010 a0002c0003t0001g0013 a0002c0007t0001g0011 a0002c0007t0001g0015 a0002c0020t0001g0009 a0002c0022t0001g0012 a0003c0021t0001g0004 a0007c0019t0001g0017 a0008c0018t0006g0014 a0009c0024t0003g0001	16	56	0.2857	-30	c.-19 others(45): Show c.-19+401_-19+430delCTGCGGGGTTATCGGTGCGGGGCCTGGAGA	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	1/15			chr19	TogoVar
MED23_chr6_131581732_131633242	131630839	GGCCCTCA others(23): Show GGCCCTCATGAGTACACTAAAAATGAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	320	0.0031	-30	c.-28 others(41): Show c.-2820_-2791delTCTTCTCATTTTTAGTGTACTCATGAGGGC	MED23	ENSG00000112282.18	transcript	ENST00000368068.8	protein_coding		2598		chr6	TogoVar
MED28_chr4_17609641_17639105	17632043	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0001 a0001c0001t0128g0001	1	328	0.0031	-30	c.82 others(41): Show c.8260_*8289delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED28	ENSG00000118579.13	transcript	ENST00000237380.12	protein_coding	4/4	8260	INFO_REALIGN_3_PRIME	chr4	TogoVar
MED8_chr1_43378917_43394800	43392083	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	-30	c.-23 others(41): Show c.-2349_-2320delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MED8	ENSG00000159479.17	transcript	ENST00000372457.9	protein_coding		2284		chr1	TogoVar
MEF2C_chr5_88712117_88888184	88869252	CATATATA others(23): Show CATATATATATATATATATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0076 a0001c0001t0003g0076	1	302	0.0033	-30	c.-14 others(51): Show c.-143+13673_-143+13702delATATGTATATATATATATATATAT ATATAT	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	1/10			chr5	TogoVar
MEGF10_chr5_127285796_127466222	127391094	GCGCGCGC others(23): Show GCGCGCGCGCACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	268	0.0037	-30	c.413 others(47): Show c.413-5436_413-5407delGCGCGCGCACACACACACACACACACAC AC	MEGF10	ENSG00000145794.17	transcript	ENST00000503335.7	protein_coding	5/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
MEGF11_chr15_65890299_66258750	66020991	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(62): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03225.hp1 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 NA18747.hp2 NA19043.hp1 NA19056.hp2 NA19066.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0013	a0001c0001 a0001c0010 a0001c0021 others(5): Show a0001c0001 a0001c0010 a0001c0021 a0002c0002 a0002c0005 a0003c0003 a0004c0004 a0013c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0010t0001 a0001c0021t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0005t0001 a0003c0003t0003 a0004c0004t0003 a0013c0020t0007	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(62): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0002g0163 a0001c0001t0004g0038 a0001c0001t0004g0045 a0001c0001t0004g0089 a0001c0001t0006g0046 a0001c0001t0006g0076 a0001c0001t0008g0175 a0001c0010t0001g0093 a0001c0021t0008g0165 a0002c0002t0001g0005 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0033 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0086 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0125 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0166 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0004g0142 a0002c0002t0006g0066 a0002c0002t0006g0091 a0002c0002t0007g0134 a0002c0002t0008g0156 a0002c0002t0012g0127 a0002c0005t0001g0049 a0003c0003t0003g0102 a0004c0004t0003g0080 a0013c0020t0007g0104	65	176	0.3693	-30	c.395 others(49): Show c.395-38533_395-38504delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	5/25			chr15	TogoVar
MEGF11_chr15_65890299_66258750	66192470	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03139.hp1 HG02622.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0131 a0001c0001t0001g0042 a0001c0001t0001g0131	2	176	0.0114	-30	c.-9+ others(47): Show c.-9+61105_-9+61134delATTTTATTTTATTTTATTTTATTTTATT TT	MEGF11	ENSG00000157890.19	transcript	ENST00000395614.6	protein_coding	1/25			chr15	TogoVar
MEGF6_chr1_3482951_3616508	3513334	TCCGAGTA others(23): Show TCCGAGTAGCTGGGACTCCTGCCTCGGCATC	T T	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19090.hp1 NA19085.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0007 a0005c0019 a0001c0007 a0005c0019	a0001c0007t0014 a0005c0019t0024 a0001c0007t0014 a0005c0019t0024	a0001c0007t0014g0168 a0005c0019t0024g0038 a0001c0007t0014g0168 a0005c0019t0024g0038	2	292	0.0069	-30	c.853 others(47): Show c.853+1186_854-1207delGATGCCGAGGCAGGAGTCCCAGCTACTC GG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	7/36			chr1	TogoVar
MEIKIN_chr5_131801990_131950663	131885341	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG00738.hp1 others(95): Show HG00438.hp1 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02486.hp1 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18939.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18988.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0204 a0001c0002t0001g0205 others(94): Show a0001c0002t0001g0003 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0341	98	346	0.2832	-30	c.704 others(47): Show c.704-6323_704-6294delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	8/12			chr5	TogoVar
MEIS2_chr15_36884204_37105549	37101335	TGTGTGTG others(23): Show TGTGTGTGTGCGCGCGCGCGCCCGCGCGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	274	0.0037	-30	c.-18 others(41): Show c.-1899_-1870delGGGCGCGCGGGCGCGCGCGCGCACACACAC	MEIS2	ENSG00000134138.22	transcript	ENST00000561208.6	protein_coding		787		chr15	TogoVar
MELK_chr9_36567895_36682682	36596563	GTTTTTTT others(23): Show GTTTTTTTTGTTTTTTTTGTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0209 a0003c0005t0004g0209	1	242	0.0041	-30	c.406 others(45): Show c.406-650_406-621delGTTTTTTTTGTTTTTTTTGTTTTTTTTTTT	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MELK_chr9_36567895_36682682	36666853	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	242	0.0041	-30	c.140 others(49): Show c.1408+1297_1408+1326delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
MEP1A_chr6_46788389_46844778	46797772	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTTTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0003	a0006c0005t0003g0124 a0006c0005t0003g0124	1	352	0.0028	-30	c.146 others(45): Show c.146-812_146-783delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEP1B_chr18_32185039_32225404	32215969	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(148): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02735.hp1 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19077.hp2 NA19078.hp2 NA19082.hp2 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0010 a0014 a0015	a0001c0001 a0001c0009 a0002c0003 others(7): Show a0001c0001 a0001c0009 a0002c0003 a0002c0005 a0003c0007 a0005c0011 a0007c0014 a0010c0022 a0014c0020 a0015c0015	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0005c0011t0001 a0007c0014t0001 a0010c0022t0001 a0014c0020t0001 a0015c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0003g0155 a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0001g0071 a0001c0009t0001g0085 a0002c0003t0001g0086 a0002c0005t0001g0006 a0002c0005t0001g0051 a0002c0005t0001g0202 a0003c0007t0001g0228 a0003c0007t0001g0229 a0005c0011t0001g0191 a0005c0011t0001g0192 a0005c0011t0001g0194 a0007c0014t0001g0001 a0007c0014t0001g0014 a0010c0022t0001g0256 a0014c0020t0001g0232 a0015c0015t0001g0004	151	350	0.4314	-30	c.175 others(47): Show c.1759+729_1759+758delATATATATATATATATATATATATATAT AT	MEP1B	ENSG00000141434.12	transcript	ENST00000269202.11	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr18	TogoVar
MESP1_chr15_89744875_89756249	89747101	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0001 a0003c0028t0001	a0003c0028t0001g0036 a0003c0028t0001g0036	1	428	0.0023	-30	c.30 others(41): Show c.3013_*3042delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	MESP1	ENSG00000166823.6	transcript	ENST00000300057.5	protein_coding		2773		chr15	TogoVar
METAP1D_chr2_171994953_172087430	172042786	CGTGTGTG others(23): Show CGTGTGTGTGTGTATATGTACACATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA20805.hp1 HG02602.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0003 a0001c0001t0002 a0003c0005t0003	a0001c0001t0002g0260 a0003c0005t0003g0038 a0001c0001t0002g0260 a0003c0005t0003g0038	2	356	0.0056	-30	c.41- others(47): Show c.41-18703_41-18674delGTGTATATGTACACATATACGTGTGTGT GT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METAP1_chr4_98990721_99067809	99004454	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	338	0.0030	-30	c.114 others(47): Show c.114+8617_114+8646delTACACACACACACACACACACACACACA CA	METAP1	ENSG00000164024.12	transcript	ENST00000296411.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
METTL15_chr11_28103388_28338507	28310893	CTGCTGCT others(23): Show CTGCTGCTGCTGCTGCTGCTGCTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	332	0.0030	-30	c.778 others(49): Show c.778+13965_778+13994delCTGCTGCTGCTGCTGCTGCTGGTGGT GGTG	METTL15	ENSG00000169519.21	transcript	ENST00000407364.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
METTL15_chr11_28103388_28338507	28310902	CTGCTGCT others(23): Show CTGCTGCTGCTGCTGGTGGTGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	332	0.0030	-30	c.778 others(49): Show c.778+13974_778+14003delCTGCTGCTGCTGGTGGTGGTGGTGGT GGTG	METTL15	ENSG00000169519.21	transcript	ENST00000407364.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
METTL16_chr17_2411049_2516888	2428556	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0173 a0001c0001t0018g0173	1	298	0.0034	-30	c.889 others(47): Show c.889-7682_889-7653delATATATATATATATATATATATTTTTTT TT	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding	8/9			chr17	TogoVar
METTL16_chr17_2411049_2516888	2513562	GGCTTTGA others(23): Show GGCTTTGATACTAGTTATGGCATTTTATTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	298	0.0034	-30	c.-18 others(41): Show c.-1834_-1805delTAAATAAAATGCCATAACTAGTATCAAAGC	METTL16	ENSG00000127804.13	transcript	ENST00000263092.11	protein_coding		1675		chr17	TogoVar

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