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
MLC1_chr22_50054391_50090426	50081009	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18994.hp2 HG03942.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0052 a0001c0001t0001g0022 a0001c0001t0001g0052	2	212	0.0094	23	c.268 others(38): Show c.268-613_268-612insCTTTCTTTCTTTCTTTCTTTCTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLC1_chr22_50054391_50090426	50081029	G G	GAAAGAAA others(16): Show GAAAGAAAGAAAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	212	0.0047	23	c.268 others(38): Show c.268-633_268-632insTCTTTCTTTCTTTTTCTTTCTTT	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLF1_chr3_158566194_158611456	158607230	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0234	1	380	0.0026	23	c.20 others(34): Show c.2028_*2029insAAAAAAAAAAAAAAAAAAAAAAA	MLF1	ENSG00000178053.21	transcript	ENST00000466246.7	protein_coding		775		chr3	TogoVar
MLIP_chr6_54106443_54271280	54109924	T T	TCTTCTTC others(16): Show TCTTCTTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	248	0.0040	23	c.-15 others(34): Show c.-1556_-1555insCTTCTTCCTTCCTTCCTTCCTTC	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding		1518		chr6	TogoVar
MLLT10_chr10_21529232_21748630	21745601	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0085	1	192	0.0052	23	c.36 others(34): Show c.3618_*3619insTTTTTTTTTTTTTTTTTTTTTTT	MLLT10	ENSG00000078403.17	transcript	ENST00000307729.12	protein_coding		1972		chr10	TogoVar
MLPH_chr2_237482251_237560322	237488030	T T	TACTAGCC others(16): Show TACTAGCCCCAAGTCCCTACAGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0272 a0001c0022t0001g0272	1	286	0.0035	23	c.-25 others(38): Show c.-25+596_-25+618dupTAGCCCCAAGTCCCTACAGGAAC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03704.hp1 NA18612.hp2 others(2): Show HG03516.hp1 HG03704.hp1 NA18612.hp2 NA18941.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0011 a0002c0002 a0002c0004 a0002c0011	a0002c0002t0002 a0002c0002t0010 a0002c0002t0042 others(2): Show a0002c0002t0002 a0002c0002t0010 a0002c0002t0042 a0002c0004t0005 a0002c0011t0002	a0002c0002t0002g0331 a0002c0002t0010g0020 a0002c0002t0042g0018 others(2): Show a0002c0002t0002g0331 a0002c0002t0010g0020 a0002c0002t0042g0018 a0002c0004t0005g0008 a0002c0011t0002g0260	5	354	0.0141	23	c.414 others(40): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMACHC_chr1_45495300_45518382	45515598	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	386	0.0026	23	c.63 others(34): Show c.6383_*6384insAAAAAAAAAAAAAAAAAAAAAAA	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2217		chr1	TogoVar
MME_chr3_155075319_155188704	155133058	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0251 a0001c0001t0007g0251	1	336	0.0030	23	c.721 others(40): Show c.721-5044_721-5043insTATATATATATATATATATATAT	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22			chr3	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	336	0.0030	23	c.721 others(40): Show c.721-5039_721-5038insATATATATATATATATATATATA	MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP12_chr11_102857736_102879982	102860719	G G	GTCGTGTT others(16): Show GTCGTGTTCGTCTTTCTTACTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	448	0.0022	23	c.23 others(34): Show c.2380_*2381insAATAGTAAGAAAGACGAACACGA	MMP12	ENSG00000262406.3	transcript	ENST00000571244.3	protein_coding		2016		chr11	TogoVar
MMP16_chr8_88027011_88332483	88088084	A A	ATATATAA others(16): Show ATATATAATAGATATCTATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18972.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19010.hp1 NA19063.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0002 a0001c0002t0031 a0001c0002t0043 a0001c0003t0020 a0001c0008t0054	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 others(116): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0155 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0184 a0001c0001t0003g0033 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0116 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0089 a0001c0001t0004g0092 a0001c0001t0004g0137 a0001c0001t0004g0142 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0164 a0001c0001t0004g0169 a0001c0001t0005g0012 a0001c0001t0005g0023 a0001c0001t0005g0067 a0001c0001t0005g0123 a0001c0001t0005g0174 a0001c0001t0006g0016 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0124 a0001c0001t0006g0129 a0001c0001t0007g0066 a0001c0001t0007g0141 a0001c0001t0007g0166 a0001c0001t0008g0030 a0001c0001t0008g0086 a0001c0001t0008g0090 a0001c0001t0009g0139 a0001c0001t0010g0040 a0001c0001t0010g0073 a0001c0001t0013g0031 a0001c0001t0013g0125 a0001c0001t0014g0101 a0001c0001t0014g0173 a0001c0001t0015g0024 a0001c0001t0016g0006 a0001c0001t0016g0131 a0001c0001t0017g0013 a0001c0001t0017g0145 a0001c0001t0018g0017 a0001c0001t0018g0127 a0001c0001t0021g0044 a0001c0001t0022g0128 a0001c0001t0023g0083 a0001c0001t0024g0115 a0001c0001t0027g0064 a0001c0001t0028g0105 a0001c0001t0029g0110 a0001c0001t0033g0109 a0001c0001t0035g0119 a0001c0001t0037g0029 a0001c0001t0038g0047 a0001c0001t0039g0135 a0001c0001t0040g0126 a0001c0001t0041g0035 a0001c0001t0042g0056 a0001c0001t0044g0149 a0001c0001t0045g0157 a0001c0001t0047g0120 a0001c0001t0048g0178 a0001c0001t0049g0036 a0001c0001t0050g0108 a0001c0002t0002g0176 a0001c0002t0031g0084 a0001c0002t0043g0008 a0001c0003t0020g0150 a0001c0008t0054g0186	119	186	0.6398	23	c.108 others(44): Show c.1084-13342_1084-13341insGATATATAGATATCTATTATATA	MMP16	ENSG00000156103.16	transcript	ENST00000286614.11	protein_coding	6/9			chr8	TogoVar
MMP17_chr12_131823393_131856771	131827353	C C	CGGGGGGG others(16): Show CGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	398	0.0025	23	c.-11 others(34): Show c.-1142_-1141insGGGGGGGGGGGGGGGGGGGGGGG	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1039		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827361	G G	GTGGGGGG others(16): Show GTGGGGGGGGGGAGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0050 a0008c0011t0001g0050	1	398	0.0025	23	c.-11 others(34): Show c.-1134_-1133insTGGGGGGGGGGAGGGGGGGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1031		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(16): Show GGGGGGGGGGGAGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0044 a0005c0004t0001g0044	1	398	0.0025	23	c.-11 others(34): Show c.-1129_-1128insGGGGGGGGGGAGGGGGGGGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(16): Show GGGGGGGGGGGGAGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0052 a0009c0016t0001g0052	1	398	0.0025	23	c.-11 others(34): Show c.-1129_-1128insGGGGGGGGGGGAGGGGGGGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827367	G G	GGGGGGGG others(16): Show GGGGGGGGGGGGGGGGGGGGGGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0167 a0004c0005t0002g0167	1	398	0.0025	23	c.-11 others(34): Show c.-1128_-1127insGGGGGGGGGGGGGGGGGGGGGTT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1025		chr12	TogoVar
MMP20_chr11_102571832_102630332	102601125	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02280.hp1 HG02895.hp2 others(4): Show HG01192.hp2 HG02280.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03471.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0001 a0003c0005t0001 a0002c0002t0001 a0003c0005t0001	a0002c0002t0001g0019 a0002c0002t0001g0081 a0002c0002t0001g0141 others(3): Show a0002c0002t0001g0019 a0002c0002t0001g0081 a0002c0002t0001g0141 a0003c0005t0001g0164 a0003c0005t0001g0222 a0003c0005t0001g0223	7	446	0.0157	23	c.953 others(40): Show c.953+5387_953+5409dupAAAAAAAAAAAAAAAAAAAAAAA	MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	6/9			chr11	TogoVar
MMP26_chr11_4699784_4997429	4907095	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	206	0.0049	23	c.-14 others(44): Show c.-144-80953_-144-80952insAAAAAAAAAAAAAAAAAAAAAAA	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4942089	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02738.hp1 HG02886.hp2 others(1): Show HG00741.hp1 HG02738.hp1 HG02886.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0087 a0001c0001t0001g0186	4	206	0.0194	23	c.-14 others(44): Show c.-144-45958_-144-45957insAAAAAAAAAAAAAAAAAAAAAAA	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP26_chr11_4699784_4997429	4996721	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 NA18977.hp2 HG02683.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0020 a0001c0001t0001g0043	2	206	0.0097	23	c.44 others(34): Show c.4479_*4480insTTCTTTCTTTCTTTCTTTCTTTC	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding		4293		chr11	TogoVar
MMP28_chr17_35760865_35800641	35786699	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03579.hp2 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0226 a0001c0001t0003g0031 a0001c0001t0001g0226 a0001c0001t0003g0031	2	309	0.0065	23	c.112 others(40): Show c.112-7377_112-7376insTTTTTTTTTTTTTTTTTTTTTTT	MMP28	ENSG00000271447.6	transcript	ENST00000605424.6	protein_coding	1/7			chr17	TogoVar
MMP9_chr20_46003908_46021561	46010321	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0078 a0002c0008t0001g0078	1	420	0.0024	23	c.372 others(38): Show c.372-142_372-141insAAAAAAAAAAAAAAAAAAAAAAA	MMP9	ENSG00000100985.7	transcript	ENST00000372330.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01928.hp1 HG01168.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0197 a0001c0001t0001g0176 a0001c0001t0001g0197	2	414	0.0048	23	c.226 others(40): Show c.226-3489_226-3488insATATATATATATATTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOCOS_chr18_36182497_36277157	36262276	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	358	0.0028	23	c.240 others(42): Show c.2409+2101_2409+2102insACACACACACACACACACACACA	MOCOS	ENSG00000075643.6	transcript	ENST00000261326.6	protein_coding	13/14			chr18	TogoVar
MOK_chr14_102223836_102310164	102234944	A A	AAACCCGA others(16): Show AAACCCGACTCACCTCCTGCTCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0249 a0002c0004t0002g0249	1	252	0.0040	23	c.591 others(40): Show c.591-1178_591-1156dupGGGAGCAGGAGGTGAGTCGGGTT	MOK	ENSG00000080823.23	transcript	ENST00000361847.7	protein_coding	7/11			chr14	TogoVar
MON1A_chr3_49903873_49934811	49911217	G G	GATAGATA others(16): Show GATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01099.hp2 others(10): Show HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03834.hp2 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0035 a0001c0002t0001g0008 a0001c0002t0001g0116 others(6): Show a0001c0001t0001g0035 a0001c0002t0001g0008 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0128	13	262	0.0496	23	c.613 others(38): Show c.613+308_613+309insGTATCTATCATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911221	G G	GATAGATA others(16): Show GATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03041.hp1 HG01069.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0002t0001 a0001c0004t0003	a0001c0002t0001g0051 a0001c0004t0003g0130 a0001c0002t0001g0051 a0001c0004t0003g0130	2	262	0.0076	23	c.613 others(38): Show c.613+304_613+305insGTATCTATCATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49911225	G G	GATAGATA others(16): Show GATAGATAGATAGATGATAGATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp2 HG02559.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0019 a0001c0004t0001g0019	2	262	0.0076	23	c.613 others(38): Show c.613+300_613+301insGTATCTATCATCTATCTATCTAT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	3/5			chr3	TogoVar
MON1A_chr3_49903873_49934811	49913352	G G	GAGCTGTC others(16): Show GAGCTGTCAGTAGCCATCCTTTGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0143 a0001c0002t0004g0143	1	262	0.0038	23	c.-7_ others(28): Show c.-7_-6insTCAAAGGATGGCTACTGACAGCT	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding	2/6	7		chr3	TogoVar
MON1A_chr3_49903873_49934811	49933555	A A	ATGCCCGG others(16): Show ATGCCCGGCCTTGTTTGTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	262	0.0038	23	c.-39 others(34): Show c.-3961_-3960insCAAAAAACAAACAAGGCCGGGCA	MON1A	ENSG00000164077.15	transcript	ENST00000296473.8	protein_coding		3745		chr3	TogoVar
MON2_chr12_62461826_62605476	62534542	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0271 a0003c0004t0004g0271	1	368	0.0027	23	c.163 others(40): Show c.1634-303_1634-302insTATATATATATATATATATATAT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34			chr12	TogoVar
MON2_chr12_62461826_62605476	62557962	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0008 a0001c0006t0003g0008	1	368	0.0027	23	c.340 others(42): Show c.3409+1771_3409+1772insATATATATATATATATATATTTT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	25/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAGAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0129 a0003c0003t0001g0129	1	294	0.0034	23	c.133 others(42): Show c.1331-4936_1331-4935insCTTCCTTCTCTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040427	G G	GGAAGGAA others(16): Show GGAAGGAAGGAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	294	0.0034	23	c.133 others(42): Show c.1331-4960_1331-4959insTTTCTTTCTTTCTTCCTTCCTTC	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC4_chrX_106935738_107005212	106947571	T T	TTATATAT others(16): Show TTATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18953.hp1 NA18945.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	237	0.0084	23	c.168 others(42): Show c.1686-4367_1686-4366insTTATATATATATATATATATATA	MORC4	ENSG00000133131.15	transcript	ENST00000355610.9	protein_coding	14/16			chrX	TogoVar
MORN3_chr12_121643742_121674654	121669813	C C	CATATATA others(16): Show CATATATATATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02109.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0008 a0001c0001t0029	a0001c0001t0008g0030 a0001c0001t0029g0029 a0001c0001t0008g0030 a0001c0001t0029g0029	2	384	0.0052	23	c.-33 others(32): Show c.-331_-330insATATATATTATATATATATATAT	MORN3	ENSG00000139714.12	transcript	ENST00000355329.7	protein_coding		160		chr12	TogoVar
MOV10L1_chr22_50085006_50166687	50098214	T T	TTATTAAG others(16): Show TTATTAAGATTAACATCTTAATAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	400	0.0025	23	c.283 others(40): Show c.283-1227_283-1226insTTAAGATTAACATCTTAATAATA	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50098243	A A	AATTATTA others(16): Show AATTATTAAGATTAACATCTTAAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0118 a0005c0004t0001g0118	1	400	0.0025	23	c.283 others(40): Show c.283-1198_283-1176dupTTATTAAGATTAACATCTTAATA	MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0004 a0002c0007t0006g0004	1	302	0.0033	23	c.429 others(40): Show c.4293-166_4293-144dupAAAAAAAAAAAAAAAAAAAAAAA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13236267	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	302	0.0033	23	c.183 others(42): Show c.183+11367_183+11368insAAATATATATATATATATATATA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	3/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13236268	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03579.hp1 HG03834.hp2 others(7): Show HG00544.hp1 HG03579.hp1 HG03834.hp2 HG04115.hp1 NA18950.hp2 NA18953.hp2 NA18990.hp2 NA19002.hp2 NA19011.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0005 a0001c0003t0006	a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0216 others(7): Show a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0005g0005 a0001c0002t0005g0041 a0001c0003t0006g0013	10	302	0.0331	23	c.183 others(42): Show c.183+11366_183+11367insTATATATATATATATATATATAT	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	3/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13279352	C C	CGCGGGGG others(16): Show CGCGGGGGCGCGCCTCGGCCCAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0281 a0001c0002t0001g0281	1	302	0.0033	23	c.-58 others(36): Show c.-58+47_-58+48insTCTGGGCCGAGGCGCGCCCCCGC	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	1/46			chr9	TogoVar
MPHOSPH10_chr2_71125634_71155101	71152947	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG01928.hp1 others(8): Show HG00738.hp2 HG01123.hp1 HG01928.hp1 HG02273.hp1 HG02602.hp2 HG03654.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0002 a0004c0004 a0012c0013 a0002c0002 a0004c0004 a0012c0013	a0002c0002t0001 a0004c0004t0001 a0012c0013t0001 a0002c0002t0001 a0004c0004t0001 a0012c0013t0001	a0002c0002t0001g0001 a0002c0002t0001g0058 a0002c0002t0001g0061 others(6): Show a0002c0002t0001g0001 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0176 a0002c0002t0001g0181 a0004c0004t0001g0055 a0012c0013t0001g0056	11	432	0.0255	23	c.29 others(34): Show c.2932_*2933insTTTTTTTTTTTTTTTTTTTTTTT	MPHOSPH10	ENSG00000124383.11	transcript	ENST00000244230.7	protein_coding		2847		chr2	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	422	0.0024	23	c.670 others(38): Show c.670+788_670+789insTGTGTGTGTGTTTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPP3_chr17_43795811_43838146	43822678	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	332	0.0030	23	c.684 others(40): Show c.684+1252_684+1253insTTTTTTTTTTTTTTTTTTTTTTT	MPP3	ENSG00000161647.19	transcript	ENST00000398389.9	protein_coding	10/19			chr17	TogoVar
MPPED2_chr11_30405224_30591353	30583134	C C	CTTTTTTT others(16): Show CTTTTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0147 a0001c0001t0010g0147	1	262	0.0038	23	c.-12 others(42): Show c.-121-2641_-121-2640insAAAAAAAAAAAAAAAGAAAAAAA	MPPED2	ENSG00000066382.17	transcript	ENST00000358117.10	protein_coding	1/6			chr11	TogoVar
MPV17L2_chr19_18188218_18201948	18201259	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02717.hp1 HG03471.hp2 HG00733.hp1 HG02717.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0008 a0002c0002t0004 a0002c0002t0008	a0002c0002t0004g0003 a0002c0002t0004g0004 a0002c0002t0008g0004 a0002c0002t0004g0003 a0002c0002t0004g0004 a0002c0002t0008g0004	3	378	0.0079	23	c.52 others(34): Show c.5204_*5205insAAGAAAGAAAGAAAGAAAGAAAG	MPV17L2	ENSG00000254858.10	transcript	ENST00000599612.3	protein_coding		4312		chr19	TogoVar
MRGBP_chr20_62791473_62806729	62800191	T T	TGAAGGCC others(16): Show TGAAGGCCACCCCCACCCACCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0005 a0001c0001t0030g0005	1	410	0.0024	23	c.55 others(32): Show c.552_*574dupGGCCACCCCCACCCACCTGGGAA	MRGBP	ENSG00000101189.7	transcript	ENST00000370487.5	protein_coding	5/5	575	INFO_REALIGN_3_PRIME	chr20	TogoVar
MRGPRG_chr11_3212944_3223813	3216895	G G	GCTTTCTT others(16): Show GCTTTCTTTCTTTTTCCTTCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0000 a0004c0004t0000	a0004c0004t0000g0000 a0004c0004t0000g0000	1	426	0.0024	23	c.10 others(34): Show c.1048_*1049insAAAGGAAGGAAAAAGAAAGAAAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1048		chr11	TogoVar

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Search Results (Total: 8696 hits)