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
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(32): Show GGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA18980.hp2 HG03490.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0255 a0001c0003t0003g0249 a0001c0001t0002g0255 a0001c0003t0003g0249	2	398	0.0050	39	c.-11 others(50): Show c.-1129_-1128insGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGT GGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1026		chr12	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02258.hp2 HG02155.hp2 HG02258.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0181 a0002c0002t0001g0046 a0001c0001t0001g0181 a0002c0002t0001g0046	2	414	0.0048	39	c.226 others(56): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18992.hp1 NA19082.hp2 NA18951.hp1 NA18992.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0152 a0001c0001t0001g0013 a0001c0001t0001g0152	3	414	0.0073	39	c.226 others(56): Show c.226-3489_226-3488insATATATATATATATATATATATATATTT TTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MON1A_chr3_49903873_49934811	49911205	G G	GATAGATA others(32): Show GATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02074.hp1 NA18939.hp2 others(2): Show HG02004.hp1 HG02074.hp1 NA18939.hp2 NA18962.hp1 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0134 a0001c0002t0001g0145 others(1): Show a0001c0002t0001g0031 a0001c0002t0001g0134 a0001c0002t0001g0145 a0001c0002t0001g0147	5	262	0.0191	39	c.613 others(54): Show c.613+320_613+321insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911209	G G	GATAGATA others(32): Show GATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01256.hp2 others(8): Show HG00741.hp1 HG01167.hp1 HG01256.hp2 HG01346.hp2 HG02723.hp2 HG04228.hp1 NA18954.hp2 NA18979.hp1 NA18998.hp1 NA19057.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001	a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0136 others(4): Show a0001c0002t0001g0006 a0001c0002t0001g0043 a0001c0002t0001g0136 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0003t0001g0062 a0001c0006t0001g0038	11	262	0.0420	39	c.613 others(54): Show c.613+316_613+317insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911217	G G	GATAGATA others(32): Show GATAGATAGATAGATAGATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp2 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0175 a0001c0002t0001g0125 a0001c0001t0005g0175 a0001c0002t0001g0125	2	262	0.0076	39	c.613 others(54): Show c.613+308_613+309insGTATCTATCATCTATCTATCTATCTATCTA TCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1B_chr16_77186190_77207398	77202917	T T	TTCATGTG others(32): Show TTCATGTGCATTTGAATTCATGTGCATTTGAAAATTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00621.hp2 others(68): Show HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01361.hp1 HG01516.hp2 HG01934.hp1 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19058.hp1 NA19059.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0021 others(5): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0021 a0001c0003t0039 a0001c0003t0058 a0001c0003t0067 a0001c0003t0069 a0001c0003t0088	a0001c0001t0002g0064 a0001c0003t0002g0003 a0001c0003t0002g0016 others(10): Show a0001c0001t0002g0064 a0001c0003t0002g0003 a0001c0003t0002g0016 a0001c0003t0002g0043 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0065 a0001c0003t0021g0003 a0001c0003t0039g0003 a0001c0003t0058g0016 a0001c0003t0067g0003 a0001c0003t0069g0003 a0001c0003t0088g0003	71	440	0.1614	39	c.46 others(50): Show c.4609_*4610insTCATGTGCATTTGAATTCATGTGCATTTGAAAAT TCTCA	MON1B	ENSG00000103111.15	transcript	ENST00000248248.8	protein_coding		520		chr16	TogoVar
MORN3_chr12_121643742_121674654	121669813	C C	CATATATA others(32): Show CATATATATATATATATATATATAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	1	384	0.0026	39	c.-33 others(48): Show c.-331_-330insATATATATATATATATTATATATATATATATATATA TAT	MORN3	ENSG00000139714.12	transcript	ENST00000355329.7	protein_coding		160		chr12	TogoVar
MPPED1_chr22_43407014_43512848	43495686	G G	GAGGTACT others(32): Show GAGGTACTAGTAATGGAGGTGGTGGTGGAAGTGCTGGTTA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0020 a0001c0010t0001g0020	1	250	0.0040	39	c.633 others(56): Show c.633-2549_633-2548insAGGTACTAGTAATGGAGGTGGTGGTGGA AGTGCTGGTTA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495761	G G	GTGGTGGA others(32): Show GTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	250	0.0040	39	c.633 others(56): Show c.633-2468_633-2467insAGATGGTGGTGGTGGAGGTGGTGGTGGT GGAGATGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495989	G G	GTGGTGGA others(32): Show GTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0158 a0002c0011t0001g0158	1	250	0.0040	39	c.633 others(56): Show c.633-2240_633-2239insAGGTAGTGGTGGTGGAGGTAGTGGTGGT GGAGATGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500124	A A	ATGGGGGT others(32): Show ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp2 HG01981.hp2 others(10): Show HG00639.hp2 HG01884.hp2 HG01981.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02809.hp1 HG03225.hp2 NA18968.hp1 NA18981.hp2 NA18999.hp2 NA19009.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0013 a0001c0003t0011	a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0001t0002g0003 others(10): Show a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0001t0002g0003 a0001c0001t0004g0195 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0002g0091 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0013g0075 a0001c0003t0011g0197 a0001c0003t0011g0238	13	250	0.0520	39	c.748 others(56): Show c.748+1777_748+1778insGGGTGGTGGTGGTGATGGTGATGGAGGT GGTGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GTGATGGT others(32): Show GTGATGGTGGAGGTGGTGGTGATGGTGATGGAGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01515.hp2 HG01070.hp1 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0112 a0001c0002t0002g0071 a0001c0002t0001g0112 a0001c0002t0002g0071	2	250	0.0080	39	c.748 others(56): Show c.748+1797_748+1798insATGGTGGAGGTGGTGGTGATGGTGATGG AGGTGGTGATG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 homoSapiens_chm13v2.hp1 HG01515.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	2	444	0.0045	39	c.67+ others(52): Show c.67+286_67+287insAAAAAAAAAAAAAAAAATATATATATATATAT ATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	444	0.0023	39	c.67+ others(52): Show c.67+286_67+287insAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MRGPRG_chr11_3212944_3223813	3216935	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	426	0.0024	39	c.10 others(50): Show c.1008_*1009insAAAGAAAGAAAGAAAGAAAGCAAGAAAGAAAGAA AGAAA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1008		chr11	TogoVar
MROH1_chr8_144143016_144266926	144181312	G G	GCCCGGTG others(32): Show GCCCGGTGATGGGGGAGGGGCCCGGTGATGGGGGAGGGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0003 a0002c0007t0001g0003	1	140	0.0071	39	c.562 others(54): Show c.562+791_562+792insCGGTGATGGGGGAGGGGCCCGGTGATGGGG GAGGGGCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0025 a0025	a0025c0030 a0025c0030	a0025c0030t0001 a0025c0030t0001	a0025c0030t0001g0215 a0025c0030t0001g0215	1	396	0.0025	39	c.757 others(54): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41			chr5	TogoVar
MRPL14_chr6_44108451_44132452	44127168	A A	ACCCCCCT others(32): Show ACCCCCCTCCCCGTCGGGACCCCCCTCCCCGTCGGGACCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02083.hp1 HG02083.hp2 HG00609.hp2 HG02083.hp1 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0133 a0001c0002t0002g0039 a0001c0002t0002g0133	3	436	0.0069	39	c.-19 others(54): Show c.-19+175_-19+176insGGGTCCCGACGGGGAGGGGGGTCCCGACGG GGAGGGGGG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL14_chr6_44108451_44132452	44127186	A A	ACCCCCCT others(32): Show ACCCCCCTCCCCGTCGGGACCCCCCCCTCCCCGTCGGGAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18997.hp1 NA19056.hp2 HG00673.hp1 NA18997.hp1 NA19056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0031 a0001c0002t0010g0088 a0001c0002t0002g0031 a0001c0002t0010g0088	3	436	0.0069	39	c.-19 others(54): Show c.-19+157_-19+158insGTCCCGACGGGGAGGGGGGGGTCCCGACGG GGAGGGGGG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL45_chr17_38292168_38328211	38313309	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATACGTATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19056.hp2 NA18747.hp1 NA19056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0144 a0001c0004t0001g0149 a0001c0004t0001g0144 a0001c0004t0001g0149	2	287	0.0070	39	c.462 others(56): Show c.462-5378_462-5377insTATATATATATATATATATATATATATA CGTATATATAT	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7			chr17	TogoVar
MRPL45_chr17_38292168_38328211	38313311	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATACGTATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0053 a0001c0004t0003g0053	1	287	0.0035	39	c.462 others(56): Show c.462-5375_462-5374insATATATATATATATATATATATATACGT ATATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	404	0.0025	39	c.48+ others(54): Show c.48+1416_48+1417insACACACACACACACACACACCTCTCTCTCT CTCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MSH2_chr2_47398156_47488223	47449015	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	370	0.0027	39	c.138 others(58): Show c.1386+3369_1386+3370insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	MSH2	ENSG00000095002.15	transcript	ENST00000233146.7	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSH3_chr5_80649652_80881815	80784212	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	362	0.0028	39	c.243 others(58): Show c.2436-3326_2436-3325insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75886325	A A	AGTATATA others(32): Show AGTATATATGGTATATATGATGTATTATATATTATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0165 a0003c0005t0001g0165	1	332	0.0030	39	c.210 others(58): Show c.2107+2513_2107+2514insGTATATATGATGTATTATATATTATA TATGGTATATATG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSL1_chr17_40116971_40141917	40140349	C C	CACACACA others(32): Show CACACACACACACACACACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0049 a0001c0001t0025g0049	1	356	0.0028	39	c.59 others(50): Show c.5980_*5981insACACACACACACACACACACACACACACACACAC ACACA	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3433		chr17	TogoVar
MSLN_chr16_755734_773862	767973	T T	TGGAGGGG others(32): Show TGGAGGGGGGCGCGTGGGGGGGCGCATGGGGGGCGTGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0227 a0003c0004t0003g0227	1	388	0.0026	39	c.159 others(56): Show c.1597-404_1597-403insAGGGGGGCGCGTGGGGGGGCGCATGGGG GGCGTGGAGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65396700	A A	AAGAAAGA others(32): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0302 a0001c0001t0009g0302	1	312	0.0032	39	c.292 others(58): Show c.292+27675_292+27676insGAAAGAAAGAAAGAAAGAAAGAAAAG AAAGAAAGAAAGA	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MT4_chr16_56560073_56573957	56566793	A A	AGAAAGAA others(32): Show AGAAAGAAAGAAAGAAAGAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	428	0.0023	39	c.32- others(52): Show c.32-939_32-938insGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA GAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566799	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	428	0.0023	39	c.32- others(52): Show c.32-951_32-950insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56566819	A A	AAGGAAGG others(32): Show AAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	428	0.0023	39	c.32- others(52): Show c.32-931_32-930insGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAA AGAAAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	312	0.0032	39	c.191 others(58): Show c.191-14729_191-14728insATATATATATATATATATATATATAT TTTTTTTTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTCH2_chr11_47612317_47647559	47633527	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	370	0.0027	39	c.369 others(56): Show c.369+1144_369+1145insTATATATATATATATATATATATATATA TATATATATAT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19011.hp1 HG00544.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0059 a0001c0001t0026g0083 a0001c0001t0001g0059 a0001c0001t0026g0083	2	370	0.0054	39	c.104 others(58): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAGAA others(32): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	294	0.0034	39	c.677 others(54): Show c.677+224_677+225insCCTCCTCCTCCTTCTTCTTCTTCTTCTTCT TCTTCTTCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAGGAAGAGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	294	0.0034	39	c.677 others(54): Show c.677+223_677+224insCCCTCCCCCTCCCTCTTCCTCTTCTTCTTC TTCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250696	G G	GGGGGGGA others(32): Show GGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0227 a0002c0002t0003g0227	1	294	0.0034	39	c.677 others(54): Show c.677+209_677+210insTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CCTCCCCCC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250696	G G	GGGGGGGG others(32): Show GGGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	294	0.0034	39	c.677 others(54): Show c.677+209_677+210insTCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCCCCC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(32): Show CATATATATATATATATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	348	0.0029	39	c.-81 others(58): Show c.-81+11185_-81+11186insATATATATATATATATATATGTATAT ATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTHFD2_chr2_74193615_74222565	74219709	C C	CAGTCAAT others(32): Show CAGTCAATTTCATGTAGATTATTTTATAAATGAAAATAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	414	0.0024	39	c.54 others(50): Show c.5467_*5468insAGTCAATTTCATGTAGATTATTTTATAAATGAAA ATAAG	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding		2145		chr2	TogoVar
MTMR3_chr22_29878174_30035868	29954059	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0240 a0001c0002t0011g0240	1	334	0.0030	39	c.-13 others(58): Show c.-137-2953_-137-2952insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(32): Show CCACACACATGCGCGCTTGCGCGCGCTGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0035 a0002c0003t0003g0035	1	372	0.0027	39	c.371 others(56): Show c.3711+190_3711+191insTGCGCGCTTGCGCGCGCTGCGCGCGCGC ACACACACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MUSK_chr9_110663791_110811558	110689728	A A	AAATATAT others(32): Show AAATATATATATATATTATATATAAATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0049 a0001c0002t0012g0049	1	326	0.0031	39	c.358 others(56): Show c.358+2460_358+2461insAATATATATATATATTATATATAAATAT ATATATATAAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATAGATAG others(32): Show ATAGATAGATGAAATAGGTAGAAGGATGGATAGATGATGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03490.hp1 HG01123.hp2 HG03490.hp1	a0001 a0033 a0001 a0033	a0001c0001 a0033c0046 a0001c0001 a0033c0046	a0001c0001t0004 a0033c0046t0001 a0001c0001t0004 a0033c0046t0001	a0001c0001t0004g0255 a0033c0046t0001g0269 a0001c0001t0004g0255 a0033c0046t0001g0269	2	284	0.0070	39	c.657 others(58): Show c.6578+1729_6578+1730insCCATCATCTATCCATCCTTCTACCTA TTTCATCTATCTA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3315373	A A	ATGAAATA others(32): Show ATGAAATAGGTAGAAGGATGGATAGATGATGGATAGATAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02965.hp1 HG03704.hp2 others(3): Show HG02083.hp1 HG02965.hp1 HG03704.hp2 HG04228.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0165 a0001c0001t0001g0171 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0246 a0003c0003t0001g0214	6	284	0.0211	39	c.657 others(58): Show c.6578+1729_6578+1730insCTATCTATCCATCATCTATCCATCCT TCTACCTATTTCA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	6/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3340977	A A	AGATATAT others(32): Show AGATATATATTATATATCATGTATAATATATATTATACAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02897.hp2 others(2): Show HG02630.hp1 HG02647.hp1 HG02897.hp2 NA18522.hp1 NA20300.hp2	a0002 a0010 a0032 a0002 a0010 a0032	a0002c0026 a0010c0012 a0010c0020 others(1): Show a0002c0026 a0010c0012 a0010c0020 a0032c0036	a0002c0026t0001 a0010c0012t0001 a0010c0020t0001 others(1): Show a0002c0026t0001 a0010c0012t0001 a0010c0020t0001 a0032c0036t0007	a0002c0026t0001g0157 a0010c0012t0001g0125 a0010c0012t0001g0126 others(2): Show a0002c0026t0001g0157 a0010c0012t0001g0125 a0010c0012t0001g0126 a0010c0020t0001g0141 a0032c0036t0007g0158	5	284	0.0176	39	c.188 others(56): Show c.188+2630_188+2668dupATGTATAATATATATTATACATGATATA TAATATATATC	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MXRA8_chr1_1347691_1363555	1351446	T T	TGGAGCGG others(32): Show TGGAGCGGTGGGGAGAGTGAGGGGGCCTGGACGGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	1	338	0.0030	39	c.21 others(50): Show c.2157_*2158insCAGCCCCCGTCCAGGCCCCCTCACTCTCCCCACC GCTCC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1244		chr1	TogoVar
MYBPC1_chr12_101589971_101691028	101591843	C C	CCTTCTCC others(32): Show CCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0174 a0001c0008t0002g0174	1	360	0.0028	39	c.-32 others(50): Show c.-3228_-3227insCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTT	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3127		chr12	TogoVar
MYBPC3_chr11_47326406_47357702	47348904	C C	CTATATAT others(32): Show CTATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	374	0.0027	39	c.655 others(54): Show c.655-364_655-363insATATATATATATATATATATATATATATAT ATATATATA	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding	5/34			chr11	TogoVar

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Search Results (Total: 3425 hits)