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
MAFA_chr8_143423064_143435732	143425295	T T	TGTGTGTG others(34): Show TGTGTGTGCGTGGGGTCCAGGTGGGCTGTCGGGCACAGGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	446	0.0022	41	c.40 others(52): Show c.4009_*4049dupTCGCCTGTGCCCGACAGCCCACCTGGACCCCACG CACACAC	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding		2768		chr8	TogoVar
MAGI1_chr3_65348526_66043918	65611629	A A	ATATATAT others(34): Show ATATATATACTAGTATTATATATACTATACTAGTATATACAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp1 HG01952.hp2 others(7): Show HG00140.hp2 HG01361.hp1 HG01952.hp2 HG02572.hp1 HG02896.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 NA19240.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0004c0004 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0005t0001 a0002c0002t0001 a0004c0004t0012 a0008c0010t0001	a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0004g0001 others(7): Show a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0004g0001 a0001c0001t0006g0005 a0001c0001t0011g0102 a0001c0005t0001g0043 a0002c0002t0001g0036 a0002c0002t0001g0060 a0004c0004t0012g0103 a0008c0010t0001g0067	10	104	0.0962	41	c.430 others(60): Show c.430+10342_430+10343insCTGTATATACTAGTATAGTATATATA ATACTAGTATATATA	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	2/22			chr3	TogoVar
MAN1A2_chr1_117362449_117533872	117515274	G G	GTAAATAG others(34): Show GTAAATAGTTTAATGCATTTACATACTTTAAATGTAATGCAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01981.hp1 HG01074.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0086 a0001c0001t0006 a0001c0001t0086	a0001c0001t0006g0178 a0001c0001t0086g0135 a0001c0001t0006g0178 a0001c0001t0086g0135	2	370	0.0054	41	c.179 others(60): Show c.1794-7550_1794-7549insAAATAGTTTAATGCATTTACATACTT TAAATGTAATGCAAT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN1B1_chr9_137081985_137114183	137114055	C C	CCCCGCGA others(34): Show CCCCGCGACCCCACCCGGCACCCGCGTGCCCCGCGACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0040 a0007c0011t0002g0040	1	404	0.0025	41	c.54 others(52): Show c.5464_*5465insCCCGCGACCCCACCCGGCACCCGCGTGCCCCGCG ACCCCCG	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4873		chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114055	C C	CCCCGCGA others(34): Show CCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02886.hp2 NA19240.hp1 HG02135.hp1 HG02886.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0002 a0004c0006t0001 a0001c0002t0002 a0004c0006t0001	a0001c0002t0002g0009 a0004c0006t0001g0022 a0001c0002t0002g0009 a0004c0006t0001g0022	3	404	0.0074	41	c.54 others(52): Show c.5464_*5465insCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCG ACCCCCG	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4873		chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114071	G G	GGCACCCG others(34): Show GGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACCCCGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	404	0.0025	41	c.54 others(52): Show c.5480_*5481insGCACCCGCGTGCCCCGCGACCCCCGCCCGCGACC CCGCCCA	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4889		chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114088	C C	CGACCCCC others(34): Show CGACCCCCGCCCGCGACCCCGCCCAGCACCCGCGTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0003 a0003c0004t0001g0003	1	404	0.0025	41	c.54 others(52): Show c.5497_*5498insGACCCCCGCCCGCGACCCCGCCCAGCACCCGCGT GCCCCGT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4906		chr9	TogoVar
MAN1B1_chr9_137081985_137114183	137114088	C C	CGACCCCC others(34): Show CGACCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(127): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0014 a0015	a0001c0001 a0001c0002 a0001c0017 others(9): Show a0001c0001 a0001c0002 a0001c0017 a0001c0022 a0001c0023 a0001c0029 a0002c0003 a0003c0004 a0004c0006 a0006c0010 a0014c0020 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0002 a0001c0017t0001 a0001c0022t0001 a0001c0023t0001 a0001c0029t0001 a0002c0003t0001 a0002c0003t0002 a0003c0004t0001 a0004c0006t0001 a0006c0010t0002 a0014c0020t0001 a0015c0024t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(83): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0002g0223 a0001c0001t0003g0002 a0001c0001t0006g0025 a0001c0001t0006g0192 a0001c0002t0002g0009 a0001c0017t0001g0170 a0001c0022t0001g0002 a0001c0023t0001g0194 a0001c0029t0001g0005 a0002c0003t0001g0019 a0002c0003t0002g0018 a0003c0004t0001g0002 a0003c0004t0001g0147 a0003c0004t0001g0153 a0003c0004t0001g0221 a0004c0006t0001g0022 a0006c0010t0002g0002 a0014c0020t0001g0016 a0015c0024t0001g0210	130	404	0.3218	41	c.54 others(52): Show c.5497_*5498insGACCCCCGCCCGCGACCCCGCCCGGCACCCGCGT GCCCCGT	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4906		chr9	TogoVar
MAP2K1_chr15_66381912_66496544	66394390	C C	CAGGTTGA others(34): Show CAGGTTGATGTGCTTTTTTTTGTCTCTTATGGCTCTTTCTGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01515.hp1 others(5): Show HG00280.hp2 HG00639.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02145.hp2 HG02602.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 others(5): Show a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0006 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0012g0005	8	372	0.0215	41	c.80+ others(56): Show c.80+6964_80+7004dupAGGTTGATGTGCTTTTTTTTGTCTCTTATG GCTCTTTCTGA	MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAP2K5_chr15_67537703_67812114	67575919	T T	TCTTTCTT others(34): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	278	0.0036	41	c.253 others(58): Show c.253-4835_253-4834insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	3/21			chr15	TogoVar
MAP3K15_chrX_19355059_19520508	19478024	G G	GGGGGGAG others(34): Show GGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0001 a0015c0014t0001	a0015c0014t0001g0025 a0015c0014t0001g0025	1	163	0.0061	41	c.525 others(58): Show c.525+8457_525+8458insTCCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCCCTCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	334	0.0030	41	c.160 others(60): Show c.160-35376_160-35375insATATATATATATATATATATATATAT ATATATATATTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	334	0.0030	41	c.160 others(60): Show c.160-35376_160-35375insATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	334	0.0030	41	c.160 others(60): Show c.160-35376_160-35375insATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K2_chr2_127293668_127392975	127346409	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0096 a0001c0001t0058g0096	1	320	0.0031	41	c.-65 others(58): Show c.-65-3216_-65-3215insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	MAP3K2	ENSG00000169967.17	transcript	ENST00000682094.1	protein_coding	1/16			chr2	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01346.hp2 HG01515.hp1 others(3): Show HG01123.hp2 HG01346.hp2 HG01515.hp1 HG02486.hp2 HG04115.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0163 others(3): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0188 a0001c0002t0002g0012	6	386	0.0155	41	c.-16 others(52): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	386	0.0026	41	c.-16 others(52): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGA	MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding		1205		chr10	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp2 NA18522.hp1 HG02723.hp2 HG02976.hp2 NA18522.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0002c0020 a0014c0032 a0002c0002 a0002c0020 a0014c0032	a0002c0002t0002 a0002c0020t0002 a0014c0032t0002 a0002c0002t0002 a0002c0020t0002 a0014c0032t0002	a0002c0002t0002g0125 a0002c0020t0002g0054 a0014c0032t0002g0059 a0002c0002t0002g0125 a0002c0020t0002g0054 a0014c0032t0002g0059	3	232	0.0129	41	c.223 others(58): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20			chr3	TogoVar
MAPK14_chr6_36022808_36116236	36112685	T T	TCCTCAAC others(34): Show TCCTCAACTTTCCTTTTATTGTTAACTGGTCTGAGTCTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	342	0.0029	41	c.42 others(52): Show c.4238_*4239insCCTCAACTTTCCTTTTATTGTTAACTGGTCTGAG TCTGTCA	MAPK14	ENSG00000112062.12	transcript	ENST00000229794.9	protein_coding		1450		chr6	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	348	0.0029	41	c.111 others(58): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57493776	T T	TATATATT others(34): Show TATATATTATATATTATAATATATTATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03688.hp1 HG02735.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	288	0.0069	41	c.770 others(58): Show c.770+3149_770+3150insATATATTATATATTATATATTATAATAT ATTATATATTATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS2_chr2_197700369_197713395	197712937	T T	TCCTCCTC others(34): Show TCCTCCTCCGTTGTTGTTGAGAGAGAGCACACGCGCGCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	382	0.0026	41	c.57 others(52): Show c.5750_*5751insCCTCCTCCGTTGTTGTTGAGAGAGAGCACACGCG CGCTATA	MARS2	ENSG00000247626.5	transcript	ENST00000282276.8	protein_coding		4543		chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19077.hp2 NA18994.hp1 NA19077.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0047 a0003c0002t0001g0047	2	422	0.0047	41	c.-34 others(56): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	254	0.0039	41	c.174 others(60): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBOAT2_chr2_8847690_9008684	8981436	T T	TGTCGCCC others(34): Show TGTCGCCCCCAACAGCCCCATTCCATGTAGTTTCACAAAGTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0036 a0002c0002t0031g0036	1	162	0.0062	41	c.75+ others(58): Show c.75+22063_75+22103dupGACTTTGTGAAACTACATGGAATGGGGC TGTTGGGGGCGAC	MBOAT2	ENSG00000143797.12	transcript	ENST00000305997.8	protein_coding	1/12			chr2	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	428	0.0023	41	c.-25 others(52): Show c.-2544_-2543insAAAAATATATATATATATATATATATATATATAT ATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18972.hp2 NA18941.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	428	0.0047	41	c.-25 others(52): Show c.-2544_-2543insAAAAAAAAAAAAAAATATATATATATATATATAT ATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MC4R_chr18_60366062_60377775	60374892	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	41	c.-25 others(52): Show c.-2544_-2543insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATA	MC4R	ENSG00000166603.5	transcript	ENST00000299766.5	protein_coding		2118		chr18	TogoVar
MCF2L_chr13_112964214_113104742	113000910	G G	GTGGGTGT others(34): Show GTGGGTGTGATATTCTCAGGAGATGTGCATTGACTCCAGCAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01243.hp1 HG01257.hp2 others(16): Show HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01517.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG06807.hp1 NA18522.hp2 NA18946.hp1 NA18950.hp1 NA19085.hp1 NA19085.hp2 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0016 a0003c0009 a0004c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0020 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0025 a0001c0005t0029 a0001c0006t0030 a0001c0016t0004 a0003c0009t0011 a0004c0011t0002	a0001c0001t0001g0094 a0001c0001t0003g0099 a0001c0002t0002g0093 others(16): Show a0001c0001t0001g0094 a0001c0001t0003g0099 a0001c0002t0002g0093 a0001c0003t0001g0086 a0001c0003t0001g0092 a0001c0003t0002g0064 a0001c0003t0020g0089 a0001c0004t0001g0102 a0001c0004t0001g0103 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0095 a0001c0005t0001g0088 a0001c0005t0025g0016 a0001c0005t0029g0091 a0001c0006t0030g0096 a0001c0016t0004g0085 a0003c0009t0011g0101 a0004c0011t0002g0090	19	116	0.1638	41	c.80- others(58): Show c.80-13826_80-13825insATTGACTCCAGCACTGGGTGTGATATTC TCAGGAGATGTGC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113012325	T T	TGGACGGT others(34): Show TGGACGGTGGACAGGCAGTGTGGACGGTGGACACTGTGATGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0061 a0001c0001t0008g0061	1	116	0.0086	41	c.80- others(56): Show c.80-2361_80-2321dupTGATGCGGACGGTGGACAGGCAGTGTGGAC GGTGGACACTG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113041465	C C	CCATGACC others(34): Show CCATGACCACAGTCAGTATGGGGGATCACATGGCCCTGCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0101 a0003c0009t0011g0101	1	116	0.0086	41	c.279 others(58): Show c.279-3805_279-3804insATGACCACAGTCAGTATGGGGGATCACA TGGCCCTGCCCTC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113041467	G G	ATGACCAC others(34): Show ATGACCACAGTCAGTATGGGGGATCACATGGCCCTGCCCTCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp1 HG02145.hp1 others(3): Show HG01109.hp2 HG01496.hp1 HG02145.hp1 HG02145.hp2 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0007 a0001c0001t0023 a0001c0001t0026 others(1): Show a0001c0001t0007 a0001c0001t0023 a0001c0001t0026 a0001c0012t0031	a0001c0001t0007g0017 a0001c0001t0007g0026 a0001c0001t0007g0035 others(3): Show a0001c0001t0007g0017 a0001c0001t0007g0026 a0001c0001t0007g0035 a0001c0001t0023g0018 a0001c0001t0026g0034 a0001c0012t0031g0021	6	116	0.0517	41	c.279 others(58): Show c.279-3805_279-3804insATGACCACAGTCAGTATGGGGGATCACA TGGCCCTGCCCTC	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29			chr13	TogoVar
ME3_chr11_86436108_86677616	86560770	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	320	0.0031	41	c.184 others(56): Show c.184-948_184-947insATATATATATATATATATATATATATATAT ATATATATATA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169433482	A A	AAGACAGA others(34): Show AAGACAGACAGACAGAATGAAAGAAAGAAAAGAAAGACAAAC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0015 a0001c0001t0031g0015	1	160	0.0063	41	c.38- others(58): Show c.38-51999_38-51959dupGTTTGTCTTTCTTTTCTTTCTTTCATTC TGTCTGTCTGTCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED16_chr19_862963_898187	870650	C C	CACTAGGG others(34): Show CACTAGGGGATGGAGTTAGGGGCACCTAGAAGGAAGCAGCAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	41	c.231 others(58): Show c.2315+346_2315+386dupCTGCTGCTTCCTTCTAGGTGCCCCTAAC TCCATCCCCTAGT	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	13/15			chr19	TogoVar
MED25_chr19_49813289_49841979	49841958	T T	TCCCTGAA others(34): Show TCCCTGAATACAAGGTTCTCCTAAGGCAAGAAATAGTGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	406	0.0025	41	c.50 others(52): Show c.5014_*5015insCCCTGAATACAAGGTTCTCCTAAGGCAAGAAATA GTGAAAA	MED25	ENSG00000104973.19	transcript	ENST00000312865.10	protein_coding		4980		chr19	TogoVar
MED27_chr9_131855112_132084867	131966383	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	274	0.0037	41	c.480 others(60): Show c.480-26910_480-26909insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MEIOC_chr17_44651468_44680801	44670538	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	352	0.0028	41	c.245 others(60): Show c.2457+1041_2457+1042insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	MEIOC	ENSG00000180336.18	transcript	ENST00000409122.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL21C_chr13_102680747_102700044	102685359	A A	AACAAAAA others(34): Show AACAAAAAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	488	0.0021	41	c.67 others(50): Show c.671_*672insATATATATATATATATATATATATATATATTTTTTT TTTGT	METTL21C	ENSG00000139780.8	transcript	ENST00000267273.7	protein_coding		387		chr13	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	364	0.0028	41	c.567 others(58): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(34): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01167.hp1 HG01243.hp1 others(3): Show HG00323.hp1 HG01167.hp1 HG01243.hp1 NA18970.hp1 NA19006.hp1 NA19080.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0011 a0001c0002 a0011c0011	a0001c0002t0002 a0011c0011t0002 a0001c0002t0002 a0011c0011t0002	a0001c0002t0002g0007 a0001c0002t0002g0050 a0001c0002t0002g0057 others(3): Show a0001c0002t0002g0007 a0001c0002t0002g0050 a0001c0002t0002g0057 a0001c0002t0002g0150 a0001c0002t0002g0155 a0011c0011t0002g0225	6	436	0.0138	41	c.-67 others(50): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MGAM_chr7_141990879_142111747	142042530	T T	TATATAAT others(34): Show TATATAATATATAATATATATTATATATACATATTATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0078 a0001c0010t0001g0078	1	316	0.0032	41	c.249 others(60): Show c.2498+1689_2498+1690insATATATAATATATATTATATATACAT ATTATATATAATATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142045568	A A	AATATATA others(34): Show AATATATATATTATATATACATACAATATATGAATATATAAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01993.hp2 others(35): Show HG00423.hp2 HG00597.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02155.hp1 HG03195.hp1 HG03688.hp2 HG03927.hp1 HG04115.hp2 NA18906.hp1 NA18948.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18971.hp1 NA18978.hp1 NA18992.hp1 NA18995.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19058.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0008 a0011 a0023 a0029 a0055 a0057	a0001c0001 a0001c0010 a0001c0030 others(16): Show a0001c0001 a0001c0010 a0001c0030 a0001c0031 a0001c0032 a0001c0056 a0001c0080 a0001c0090 a0002c0002 a0003c0006 a0004c0008 a0004c0018 a0004c0143 a0008c0022 a0011c0021 a0023c0029 a0029c0142 a0055c0048 a0057c0052	a0001c0001t0001 a0001c0010t0001 a0001c0030t0001 others(16): Show a0001c0001t0001 a0001c0010t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0056t0001 a0001c0080t0001 a0001c0090t0001 a0002c0002t0001 a0003c0006t0001 a0004c0008t0001 a0004c0018t0001 a0004c0143t0001 a0008c0022t0001 a0011c0021t0001 a0023c0029t0001 a0029c0142t0001 a0055c0048t0001 a0057c0052t0001	a0001c0001t0001g0075 a0001c0010t0001g0021 a0001c0010t0001g0078 others(35): Show a0001c0001t0001g0075 a0001c0010t0001g0021 a0001c0010t0001g0078 a0001c0010t0001g0079 a0001c0010t0001g0144 a0001c0010t0001g0225 a0001c0030t0001g0261 a0001c0030t0001g0262 a0001c0031t0001g0038 a0001c0032t0001g0257 a0001c0032t0001g0259 a0001c0056t0001g0277 a0001c0080t0001g0234 a0001c0090t0001g0010 a0002c0002t0001g0190 a0002c0002t0001g0247 a0002c0002t0001g0260 a0003c0006t0001g0080 a0003c0006t0001g0095 a0004c0008t0001g0028 a0004c0008t0001g0054 a0004c0008t0001g0055 a0004c0008t0001g0073 a0004c0008t0001g0074 a0004c0008t0001g0088 a0004c0008t0001g0089 a0004c0018t0001g0018 a0004c0018t0001g0019 a0004c0018t0001g0086 a0004c0143t0001g0017 a0008c0022t0001g0020 a0011c0021t0001g0016 a0011c0021t0001g0087 a0011c0021t0001g0281 a0023c0029t0001g0226 a0029c0142t0001g0027 a0055c0048t0001g0298 a0057c0052t0001g0235	38	316	0.1203	41	c.249 others(60): Show c.2499-2209_2499-2208insATTATATATACATACAATATATGAAT ATATAATATATATAT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT5_chr2_134249072_134459621	134381364	T T	TAGATAGA others(34): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	282	0.0036	41	c.138 others(62): Show c.1380+18961_1380+18962insGATAGATAGATAGATAGATAGATA GATAGATAGATAAGATA	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGA_chr15_41655405_41774940	41656344	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	292	0.0034	41	c.-42 others(52): Show c.-4249_-4248insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTC	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4060		chr15	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	194	0.0052	41	c.126 others(60): Show c.126-61140_126-61139insATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MIER2_chr19_300573_349796	300681	C C	CCAGTGAC others(34): Show CCAGTGACTGGAGAGACTGTGGGTCACCCATGGCCGTGACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0224 a0002c0015t0003g0224	1	384	0.0026	41	c.60 others(52): Show c.6008_*6009insATGTCACGGCCATGGGTGACCCACAGTCTCTCCA GTCACTG	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4891		chr19	TogoVar
MIER2_chr19_300573_349796	300790	T T	TGGCCGTG others(34): Show TGGCCGTGACACCAGTGACTGGAGAGACTGTGGGTCACCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	384	0.0026	41	c.58 others(52): Show c.5899_*5900insCTGGGTGACCCACAGTCTCTCCAGTCACTGGTGT CACGGCC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4782		chr19	TogoVar
MINAR1_chr15_79427336_79477304	79438009	G G	GGGGTGTG others(34): Show GGGGTGTGGGGCTGGTAGTGTGTGGAGTGTGGGGTGGGTAGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0257 a0001c0004t0004g0257	1	390	0.0026	41	c.-51 others(58): Show c.-51+5478_-51+5479insGCTGGTAGTGTGTGGAGTGTGGGGTGGG TAGTGGGTGTGGG	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIS18BP1_chr14_45198190_45258202	45257785	T T	TAAAAATA others(34): Show TAAAAATAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0066 a0008c0011t0002g0066	1	246	0.0041	41	c.-48 others(52): Show c.-4843_-4842insTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT TATTTTT	MIS18BP1	ENSG00000129534.14	transcript	ENST00000310806.9	protein_coding		4584		chr14	TogoVar

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Search Results (Total: 2600 hits)