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
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02155.hp1 HG02129.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0175 a0001c0001t0004g0154 a0001c0001t0004g0175	2	420	0.0048	41	c.37 others(52): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding		3456		chr3	TogoVar
MLC1_chr22_50054391_50090426	50081009	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	212	0.0047	41	c.268 others(56): Show c.268-613_268-612insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11			chr22	TogoVar
MLIP_chr6_54106443_54271280	54251881	T T	TATAAATA others(34): Show TATAAATATATATTATAACATATGATACATATATATTATAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02451.hp2 others(6): Show HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02647.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1	a0002 a0004 a0022 a0002 a0004 a0022	a0002c0003 a0004c0004 a0022c0025 a0002c0003 a0004c0004 a0022c0025	a0002c0003t0003 a0004c0004t0003 a0022c0025t0003 a0002c0003t0003 a0004c0004t0003 a0022c0025t0003	a0002c0003t0003g0124 a0004c0004t0003g0035 a0004c0004t0003g0036 others(6): Show a0002c0003t0003g0124 a0004c0004t0003g0035 a0004c0004t0003g0036 a0004c0004t0003g0037 a0004c0004t0003g0058 a0004c0004t0003g0059 a0004c0004t0003g0151 a0004c0004t0003g0155 a0022c0025t0003g0039	9	248	0.0363	41	c.292 others(60): Show c.2923-5424_2923-5423insAATATATATTATAACATATGATACAT ATATATTATAACATA	MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
MLXIPL_chr7_73588202_73629522	73588943	T T	TTATAAAT others(34): Show TTATAAATACATTTATAATATAAATATAAAATACATTTATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	276	0.0036	41	c.49 others(52): Show c.4921_*4922insTTATAAATGTATTTTATATTTATATTATAAATGT ATTTATA	MLXIPL	ENSG00000009950.16	transcript	ENST00000313375.8	protein_coding		4258		chr7	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	354	0.0028	41	c.414 others(58): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMD2_chr7_4900998_4964187	4945206	C C	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	382	0.0026	41	c.47+ others(58): Show c.47+13764_47+13765insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(34): Show GGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0264 a0001c0003t0003g0264	1	398	0.0025	41	c.-11 others(52): Show c.-1130_-1129insGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGGGGG GTGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(34): Show GGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	1	398	0.0025	41	c.-11 others(52): Show c.-1130_-1129insGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGG GTGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827369	G G	GGGGGGGG others(34): Show GGGGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0240 a0001c0003t0003g0240	1	398	0.0025	41	c.-11 others(52): Show c.-1126_-1125insGGGGGGGGGGGGGGGGGGGAGGGGGGGGGTGGGG TGGGGGT	MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding		1023		chr12	TogoVar
MND1_chr4_153339688_153420118	153381667	A A	AATATATA others(34): Show AATATATATATATATATATATAATATATATAATATAATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	342	0.0029	41	c.277 others(60): Show c.277-12574_277-12573insATATATATAATATAATATATATATAT ATATATATATATATA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	414	0.0024	41	c.226 others(58): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA18972.hp2 HG02683.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0001g0168 a0001c0001t0001g0207	2	414	0.0048	41	c.226 others(58): Show c.226-3489_226-3488insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	414	0.0024	41	c.226 others(58): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	414	0.0024	41	c.226 others(58): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATATATATTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOGAT2_chr11_75712838_75737953	75714080	G G	GATGGCTC others(34): Show GATGGCTCCCAGAGTCCAAGTAATGGTCAGGCAGACATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	418	0.0024	41	c.-38 others(52): Show c.-3809_-3808insATGGCTCCCAGAGTCCAAGTAATGGTCAGGCAGA CATAAAT	MOGAT2	ENSG00000166391.15	transcript	ENST00000198801.10	protein_coding		3757		chr11	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	294	0.0034	41	c.133 others(60): Show c.1331-4936_1331-4935insCTTCCTTCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAAAGAGAAGAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0168 a0002c0002t0002g0168	1	294	0.0034	41	c.133 others(60): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCTCTTCTCTTT CTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAAAGAGAAGGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	294	0.0034	41	c.133 others(60): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCCCTTCTCTTT CTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORC1_chr3_108953248_109123134	109040403	A A	AAAGAAAG others(34): Show AAAGAAAGAAAGAAAGAGAAGAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0162	1	294	0.0034	41	c.133 others(60): Show c.1331-4936_1331-4935insCTTCCTTCCTTCCTTCCTTCTCTTCT CTTTCTTTCTTTCTT	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	14/27			chr3	TogoVar
MORN1_chr1_2316253_2396554	2323335	C C	CAGTGAGC others(34): Show CAGTGAGCAGCGGGTCCAGACCTTCCAGCCTTTGGCTCTCCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	80	0.0125	41	c.129 others(58): Show c.1297+721_1297+761dupTGGAGAGCCAAAGGCTGGAAGGTCTGGA CCCGCTGCTCACT	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	13/13			chr1	TogoVar
MORN1_chr1_2316253_2396554	2390749	G G	GCTCTTTT others(34): Show GCTCTTTTTTTTTTTTTTGAGACTGAGTCTTGCTCTGTCGCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	80	0.0125	41	c.76+ others(54): Show c.76+668_76+708dupGGCGACAGAGCAAGACTCAGTCTCAAAAAAAA AAAAAAGAG	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding	1/13			chr1	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19084.hp1 HG03834.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0141 a0001c0002t0002g0135 a0001c0002t0002g0141	2	302	0.0066	41	c.429 others(58): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46			chr9	TogoVar
MPEG1_chr11_59203510_59217927	59217919	A A	AGGAAGGA others(34): Show AGGAAGGAGGGAGGAAGGGAGGGAGGGAGGGGAGGAAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01168.hp1 HG01168.hp2 others(42): Show HG00099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp1 HG01433.hp2 HG01975.hp2 HG02056.hp1 HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp1 NA18522.hp1 NA18951.hp1 NA18960.hp2 NA18968.hp1 NA18975.hp1 NA18995.hp2 NA19004.hp1 NA19030.hp1 NA19086.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0024 a0001c0001t0028 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0007t0030 a0001c0007t0054 a0002c0002t0003 a0003c0003t0005 a0007c0008t0008 a0007c0008t0025	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(16): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 a0001c0001t0014g0000 a0001c0001t0018g0000 a0001c0001t0024g0000 a0001c0001t0028g0000 a0001c0001t0041g0000 a0001c0001t0043g0000 a0001c0001t0046g0000 a0001c0001t0048g0000 a0001c0007t0030g0000 a0001c0007t0054g0000 a0002c0002t0003g0000 a0003c0003t0005g0000 a0007c0008t0008g0000 a0007c0008t0025g0000	45	418	0.1077	41	c.-50 others(52): Show c.-5055_-5054insCTCCCTTCCTCCCCTCCCTCCCTCCCTTCCTCCC TCCTTCC	MPEG1	ENSG00000197629.6	transcript	ENST00000361050.4	protein_coding		4993		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216862	C C	CTCTTCTC others(34): Show CTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	426	0.0024	41	c.10 others(52): Show c.1081_*1082insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAGA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1081		chr11	TogoVar
MROH1_chr8_144143016_144266926	144203007	T T	TCTGTGGA others(34): Show TCTGTGGAGGGGCGGGGGAGGGAGCGCCCGCTGTCTGTGAGG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	140	0.0071	41	c.114 others(60): Show c.1141+2483_1141+2484insAGGGAGCGCCCGCTGTCTGTGAGGCT GTGGAGGGGCGGGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144262838	G G	GCCCCCCC others(34): Show GCCCCCCCCCCCACCCCTCACCTGCAGGGTACACCGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0130 a0006c0010t0001g0130	1	140	0.0071	41	c.10 others(52): Show c.1098_*1099insCCCCCCCCCCCACCCCTCACCTGCAGGGTACACC GCCCCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding		913		chr8	TogoVar
MRPL21_chr11_68886278_68908832	68892196	T T	TGGGGTCA others(34): Show TGGGGTCACGCGCGGAGGGTGGAGGAGAAGGGGAGCGAGGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	395	0.0025	41	c.553 others(56): Show c.553+693_553+694insCACCTCGCTCCCCTTCTCCTCCACCCTCCG CGCGTGACCCC	MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding	6/6			chr11	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGGAGA others(34): Show AGAGGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	404	0.0025	41	c.48+ others(56): Show c.48+1416_48+1417insACACACACACACACACACACACACACTCTC TCTCTCTCCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MSH4_chr1_75791882_75918242	75886347	T T	TAGCATGT others(34): Show TAGCATGTATAGTATATATGATGTATTATATATAGTGTATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01175.hp2 HG01884.hp1 others(8): Show HG00140.hp1 HG01175.hp2 HG01884.hp1 HG02055.hp1 HG02257.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02818.hp2 HG03098.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0131 others(8): Show a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0148	11	332	0.0331	41	c.210 others(60): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGTGTATAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSH4_chr1_75791882_75918242	75886407	T T	TAGCATGT others(34): Show TAGCATGTATAGTATATATGATGTATTATATATAGTGTATAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03540.hp2 HG02647.hp2 HG02723.hp1 HG03540.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0173 a0003c0005t0001g0174 a0003c0005t0001g0176 a0003c0005t0001g0173 a0003c0005t0001g0174 a0003c0005t0001g0176	3	332	0.0090	41	c.210 others(60): Show c.2107+2586_2107+2587insAGCATGTATAGTATATATGATGTATT ATATATAGTGTATAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSLN_chr16_755734_773862	767495	T T	TGTGGGGG others(34): Show TGTGGGGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0273 a0003c0004t0003g0273	1	388	0.0026	41	c.159 others(56): Show c.1596+29_1596+30insGGGGGGGGCGAGTGGAGGAGCCCCGGTGGA GGGGCGCGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767672	G G	GGGTGTGG others(34): Show GGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02602.hp1 HG03927.hp1 HG00558.hp1 HG02602.hp1 HG03927.hp1	a0004 a0004	a0004c0006 a0004c0021 a0004c0006 a0004c0021	a0004c0006t0001 a0004c0021t0001 a0004c0006t0001 a0004c0021t0001	a0004c0006t0001g0224 a0004c0006t0001g0346 a0004c0021t0001g0298 a0004c0006t0001g0224 a0004c0006t0001g0346 a0004c0021t0001g0298	3	388	0.0077	41	c.159 others(58): Show c.1596+203_1596+204insGTGTGGAGGGGGGCGCGTGGAGGGGGCA CGTGGAGGGGTCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGGCGCAT others(34): Show GGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0206 a0001c0035t0001g0206	1	388	0.0026	41	c.159 others(58): Show c.1596+242_1596+243insGCGCATGGGGGGGCGTGGAGGGGGGTGC GTGGAGGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767791	G G	GGGCGCAT others(34): Show GGGCGCATGGGGGGGTGTGGAGGGGGGGCGCGTGGAGGGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0234 a0002c0003t0004g0234	1	388	0.0026	41	c.159 others(58): Show c.1596+322_1596+323insGCGCATGGGGGGGTGTGGAGGGGGGGCG CGTGGAGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0083 a0001c0001t0002g0084	2	312	0.0064	41	c.191 others(60): Show c.191-14729_191-14728insATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTCH2_chr11_47612317_47647559	47633526	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	370	0.0027	41	c.369 others(58): Show c.369+1145_369+1146insAAAAATATATATATATATATATATATAT ATATATATATATA	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCP1_chrX_155059034_155076136	155075291	C C	CCCCTGAA others(34): Show CCCCTGAAACTCTAGTTCTGGTTTTGCCTTCTTTGTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	297	0.0034	41	c.-46 others(52): Show c.-4646_-4645insAGGAAGACAAAGAAGGCAAAACCAGAACTAGAGT TTCAGGG	MTCP1	ENSG00000214827.11	transcript	ENST00000369476.8	protein_coding		4156		chrX	TogoVar
MTCP1_chrX_155059034_155076136	155075291	C C	CCCCTGAA others(34): Show CCCCTGAAACTCTTGTTCTGGTTTTGCCTTCTTTGTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	297	0.0034	41	c.-46 others(52): Show c.-4646_-4645insAGGAAGACAAAGAAGGCAAAACCAGAACAAGAGT TTCAGGG	MTCP1	ENSG00000214827.11	transcript	ENST00000369476.8	protein_coding		4156		chrX	TogoVar
MTERF3_chr8_96234402_96266610	96250682	A A	AGAAGAAG others(34): Show AGAAGAAGAAGAAGAAGAAGAAGAAGGAGGGAGGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	294	0.0034	41	c.677 others(56): Show c.677+223_677+224insCCCTCCCCCCTCCCTCCTTCTTCTTCTTCT TCTTCTTCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTF1_chr1_37804574_37864592	37838797	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	376	0.0027	41	c.648 others(54): Show c.648-42_648-41insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MTF1	ENSG00000188786.10	transcript	ENST00000373036.5	protein_coding	3/10			chr1	TogoVar
MTFR1_chr8_65639734_65715562	65655968	A A	ATATATAT others(34): Show ATATATATATGTATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	348	0.0029	41	c.-81 others(60): Show c.-81+11184_-81+11185insTATATATATGTATATATATATATATA TGTATATATATATAT	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(34): Show CATATATATATATATATATATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp1 HG01243.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0257 a0001c0001t0001g0238 a0001c0001t0001g0257	2	348	0.0058	41	c.-81 others(60): Show c.-81+11185_-81+11186insATATATATATATATATATATGTATAT ATATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(34): Show CATATATATATATATATATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	348	0.0029	41	c.-81 others(60): Show c.-81+11185_-81+11186insATATATATATATATATATGTATATAT ATATATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MUC5AC_chr11_1152953_1206138	1170696	C C	CTCACCTA others(34): Show CTCACCTACTCACTCAGTCACCTCACTCACTCACTCACCCAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0002 a0027c0039t0002	a0027c0039t0002g0047 a0027c0039t0002g0047	1	292	0.0034	41	c.187 others(60): Show c.1870+1670_1870+1671insTCACCTACTCACTCAGTCACCTCACT CACTCACTCACCCAT	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48			chr11	TogoVar
MUSK_chr9_110663791_110811558	110689728	A A	AAATATAT others(34): Show AAATATATATATATATATTATATATAAATATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0047 a0001c0002t0012g0047	1	326	0.0031	41	c.358 others(58): Show c.358+2460_358+2461insAATATATATATATATATTATATATAAAT ATATATATATAAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATTATTTT others(34): Show ATTATTTTTTTTATTTTTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	326	0.0031	41	c.628 others(58): Show c.628+4188_628+4189insATTTTTTTTATTTTTTTATTTTATTTTA TTTTATTTTATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVB12B_chr9_126321829_126512040	126433316	C C	CTGATACA others(34): Show CTGATACACCAGGTATCCCCTTTGATACACCAGGTTCCCCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02970.hp1 HG02055.hp1 HG02486.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0030 a0001c0001t0003 a0001c0001t0030	a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0030g0014 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0030g0014	3	318	0.0094	41	c.757 others(60): Show c.757+11402_757+11403insTCCCCTTTGATACACCAGGTATCCCC TTTGATACACCAGGT	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA8_chr1_1347691_1363555	1351148	A A	AGGGGGCC others(34): Show AGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	338	0.0030	41	c.24 others(52): Show c.2455_*2456insCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCA GGCCCCC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1542		chr1	TogoVar
MYDGF_chr19_4652545_4675342	4663548	C C	CCTCCCCA others(34): Show CCTCCCCACCCCATCCTCATTCTACAGCCTCCAACCTGTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01081.hp1 others(4): Show HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01261.hp2 HG01361.hp2 HG01943.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0284	7	410	0.0171	41	c.287 others(58): Show c.287+1327_287+1328insTGCACAGGTTGGAGGCTGTAGAATGAGG ATGGGGTGGGGAG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663552	C C	CCCACCCC others(34): Show CCCACCCCATCCTCATTCTACAGCCTCCAACCTGTGCACTCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02717.hp2 HG02809.hp1 others(7): Show HG02300.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0172 others(7): Show a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0187 a0001c0001t0001g0201 a0001c0001t0001g0234 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0275	10	410	0.0244	41	c.287 others(58): Show c.287+1323_287+1324insAGAGTGCACAGGTTGGAGGCTGTAGAAT GAGGATGGGGTGG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar

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Search Results (Total: 2600 hits)