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
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02129.hp2 NA18974.hp2 HG02056.hp2 HG02129.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0231 a0001c0001t0006g0286 a0001c0001t0007g0117 a0001c0001t0006g0231 a0001c0001t0006g0286 a0001c0001t0007g0117	3	350	0.0086	42	c.42 others(53): Show c.4246_*4247insTATATATATATATATATATATACACACACACACA CACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA19080.hp2 NA18998.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0279 a0001c0001t0007g0115 a0001c0001t0006g0279 a0001c0001t0007g0115	2	350	0.0057	42	c.42 others(53): Show c.4246_*4247insTATATATATATATATATATACACACACACACACA CACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0282 a0001c0001t0033g0282	1	350	0.0029	42	c.42 others(53): Show c.4246_*4247insTATATATATATATATATACACACACACACACACA CACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCTP2_chr15_94226561_94488952	94243827	A A	ATGTATAT others(35): Show ATGTATATATTTATGTACACATATATGTATACACATACATATG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp1 HG02559.hp1 others(4): Show HG01081.hp2 HG01261.hp1 HG02559.hp1 HG03471.hp2 NA19068.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0018 a0001c0002t0055 a0002c0003t0031	a0001c0001t0003g0126 a0001c0002t0001g0055 a0001c0002t0001g0125 others(4): Show a0001c0001t0003g0126 a0001c0002t0001g0055 a0001c0002t0001g0125 a0001c0002t0004g0210 a0001c0002t0018g0098 a0001c0002t0055g0079 a0002c0003t0031g0190	7	276	0.0254	42	c.-66 others(61): Show c.-66+12218_-66+12259dupTGTACACATATATGTATACACATACA TATGTGTATATATTTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94390074	A A	ATGTATAT others(35): Show ATGTATATATATATGTATATATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03669.hp1 HG03710.hp1 others(1): Show HG00673.hp2 HG03669.hp1 HG03710.hp1 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0027 a0002c0004 others(1): Show a0001c0002 a0001c0027 a0002c0004 a0002c0019	a0001c0002t0002 a0001c0027t0002 a0002c0004t0005 others(1): Show a0001c0002t0002 a0001c0027t0002 a0002c0004t0005 a0002c0019t0030	a0001c0002t0002g0203 a0001c0027t0002g0257 a0002c0004t0005g0229 others(1): Show a0001c0002t0002g0203 a0001c0027t0002g0257 a0002c0004t0005g0229 a0002c0019t0030g0070	4	276	0.0145	42	c.178 others(61): Show c.1788+4550_1788+4551insGTATATATATATGTATATATATATAT ATGTATATATATATGT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464244	A A	ATATTATA others(35): Show ATATTATATATATATATTATATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0010	a0002c0004t0010g0094 a0002c0004t0010g0094	1	276	0.0036	42	c.236 others(61): Show c.2360+6001_2360+6002insTATATATATATATTATATATATATAT TATATATATATATTAT	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464269	A A	ATAATATA others(35): Show ATAATATATATATATAATATATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0129 a0001c0002t0014g0129	1	276	0.0036	42	c.236 others(61): Show c.2360+6025_2360+6026insATATATATATATAATATATATATATT ATATATATATATATTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72805178	T T	TCTCTCTT others(35): Show TCTCTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	210	0.0048	42	c.151 others(61): Show c.151-29181_151-29180insCTCTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCC	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7			chr10	TogoVar
MCU_chr10_72687143_72892694	72805178	T T	TCTTTCCT others(35): Show TCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	210	0.0048	42	c.151 others(61): Show c.151-29181_151-29180insCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCC	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7			chr10	TogoVar
MDGA1_chr6_37625679_37702883	37664842	G G	GACACACA others(35): Show GACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0179 a0001c0001t0108g0179	1	402	0.0025	42	c.68- others(55): Show c.68-778_68-737dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding	1/16			chr6	TogoVar
MDGA2_chr14_46835092_47680605	47224283	T T	TGATATAG others(35): Show TGATATAGATATAGATATAGATATAGATATAGATATAGATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	120	0.0083	42	c.421 others(59): Show c.421-6130_421-6089dupTATATCTATATCTATATCTATATCTATA TCTATATCTATATC	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47286824	T T	TATATATA others(35): Show TATATATACACATATATATATGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02145.hp2 HG02922.hp1 others(2): Show HG01099.hp2 HG02145.hp2 HG02922.hp1 HG03225.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0002g0106 others(2): Show a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0002g0106 a0001c0001t0002g0110 a0002c0002t0001g0114	5	120	0.0417	42	c.420 others(61): Show c.420+14586_420+14587insGTATATATATATATATATATACATAT ATATATGTGTATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	120	0.0083	42	c.281 others(61): Show c.281-34196_281-34195insGTATGTGTGTATATATATATATATAT ATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp2 NA18966.hp2 HG02683.hp2 HG03017.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 a0001c0001t0001 a0001c0001t0006 a0001c0001t0026	a0001c0001t0001g0062 a0001c0001t0006g0061 a0001c0001t0026g0117 a0001c0001t0001g0062 a0001c0001t0006g0061 a0001c0001t0026g0117	3	120	0.0250	42	c.281 others(61): Show c.281-34196_281-34195insGTATGTGTATATATATATATATATAT ATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG02647.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0004 a0001c0001t0009 a0002c0002t0004	a0001c0001t0009g0090 a0002c0002t0004g0008 a0001c0001t0009g0090 a0002c0002t0004g0008	2	120	0.0167	42	c.281 others(61): Show c.281-34196_281-34195insGTATGTATATATATATATATATATAT ATATATATATATATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	120	0.0083	42	c.280 others(63): Show c.280+133976_280+133977insTATATATATATATATATATATATA TATATATACACACACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TCATATAT others(35): Show TCATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0205 a0001c0001t0023g0205	1	388	0.0026	42	c.73 others(53): Show c.7347_*7348insCATATATATATATATATATATATATATATATATA TATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01255.hp1 others(2): Show HG00642.hp2 HG01167.hp1 HG01255.hp1 HG02451.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0032	a0001c0001t0001g0257 a0001c0002t0006g0172 a0001c0002t0006g0176 others(2): Show a0001c0001t0001g0257 a0001c0002t0006g0172 a0001c0002t0006g0176 a0001c0002t0008g0030 a0001c0002t0032g0180	5	388	0.0129	42	c.73 others(53): Show c.7347_*7348insTATATATATATATATATATATATATATATATATA TATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	290	0.0035	42	c.139 others(61): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	272	0.0037	42	c.363 others(59): Show c.363-5797_363-5796insTATATATATATATATATATATATATATA GAGAGAGAGAGAGA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME3_chr11_86436108_86677616	86560748	G G	GTGTATGT others(35): Show GTGTATGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03669.hp2 NA18963.hp2 others(3): Show HG01978.hp2 HG03669.hp2 NA18963.hp2 NA18974.hp1 NA18974.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0002c0005 a0001c0002 a0002c0004 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0004t0001 a0002c0005t0002	a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0031 others(3): Show a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0002g0242 a0002c0004t0001g0055 a0002c0005t0002g0309	6	320	0.0188	42	c.184 others(57): Show c.184-926_184-925insTATATATATATATATATATATATATATATA TATACACATACA	ME3	ENSG00000151376.19	transcript	ENST00000543262.6	protein_coding	2/14			chr11	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GAGATATA others(35): Show GAGATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0044 a0001c0001t0013g0044	1	160	0.0063	42	c.376 others(61): Show c.376-36963_376-36962insATATATATATATATATATATATATAT ATATATATATATATCT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169180794	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03540.hp2 NA18943.hp2 others(1): Show HG00408.hp2 HG03540.hp2 NA18943.hp2 NA18965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0002c0002t0006 a0001c0001t0004 a0001c0001t0007 a0002c0002t0006	a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0007g0127 others(1): Show a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0007g0127 a0002c0002t0006g0119	4	160	0.0250	42	c.376 others(61): Show c.376-36963_376-36962insATATATATATATATATATATATATAT ATATATATATATATAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MED11_chr17_4726428_4738607	4726988	C C	CGGGGGGG others(35): Show CGGGGGGGGGGGGGGGGGCCCAGGGGGGGGTGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	432	0.0023	42	c.-45 others(53): Show c.-4502_-4501insGGGGGGGGGGGGGGGGGCCCAGGGGGGGGTGGGG GGGGGGGG	MED11	ENSG00000161920.11	transcript	ENST00000293777.6	protein_coding		4439		chr17	TogoVar
MED19_chr11_57698710_57717215	57702455	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	380	0.0026	42	c.15 others(53): Show c.1582_*1583insGTATATATATATATATATATATATATATATATAT ATATATAT	MED19	ENSG00000156603.20	transcript	ENST00000431606.5	protein_coding		1254		chr11	TogoVar
MEF2A_chr15_99560984_99721488	99570011	T T	TTTTTTTA others(35): Show TTTTTTTATAATTTTATAATTTTATACTTTATATAATTTTATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0153 a0002c0002t0037g0153	1	376	0.0027	42	c.-22 others(61): Show c.-225+3907_-225+3908insTTTTTTATAATTTTATAATTTTATAC TTTATATAATTTTATA	MEF2A	ENSG00000068305.19	transcript	ENST00000557942.6	protein_coding	1/11			chr15	TogoVar
MEF2C_chr5_88712117_88888184	88869272	T T	TATATATA others(35): Show TATATATATATATATACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0055 a0001c0001t0011g0055	1	302	0.0033	42	c.-14 others(63): Show c.-143+13682_-143+13683insGTATATATATATATATATATATAT ATGTATATATATATATAT	MEF2C	ENSG00000081189.17	transcript	ENST00000504921.7	protein_coding	1/10			chr5	TogoVar
MEI4_chr6_77648039_77932045	77680115	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0283 a0002c0002t0013g0283	1	360	0.0028	42	c.-14 others(61): Show c.-14-10529_-14-10528insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MEIKIN_chr5_131801990_131950663	131885341	A A	AAGAGAGA others(35): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	346	0.0029	42	c.704 others(59): Show c.704-6335_704-6294dupCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCT	MEIKIN	ENSG00000239642.6	transcript	ENST00000442687.6	protein_coding	8/12			chr5	TogoVar
MEIS1_chr2_66430125_66578869	66431904	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0015 a0001c0001t0020g0015	1	246	0.0041	42	c.-39 others(53): Show c.-3953_-3952insATATATATATATATATATATATATATATATATAT ATATATAT	MEIS1	ENSG00000143995.20	transcript	ENST00000272369.14	protein_coding		3220		chr2	TogoVar
MEMO1_chr2_31862823_32016008	31925475	C C	CAAACAAA others(35): Show CAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	304	0.0033	42	c.213 others(59): Show c.213-4566_213-4565insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGTTT	MEMO1	ENSG00000162959.14	transcript	ENST00000404530.6	protein_coding	4/9			chr2	TogoVar
METAP1D_chr2_171994953_172087430	172017322	C C	CATATATA others(35): Show CATATATATGTGTATATATATGTGTATATATAGGTATATATGT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	356	0.0028	42	c.40+ others(59): Show c.40+17336_40+17377dupGTATATATAGGTATATATGTATATATAT GTGTATATATATGT	METAP1D	ENSG00000172878.14	transcript	ENST00000315796.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
METRNL_chr17_83074609_83100122	83090453	A A	AGGGTGGG others(35): Show AGGGTGGGAGCCACACACCCCCGCCCTGCCCCAGGGTGGGAGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0295 a0001c0001t0019g0295	1	399	0.0025	42	c.557 others(59): Show c.557-2714_557-2713insGGGTGGGAGCCACACACCCCCGCCCTGC CCCAGGGTGGGAGC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3			chr17	TogoVar
METTL8_chr2_171310746_171438990	171363796	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG04199.hp2 HG03098.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0019 a0001c0003t0019g0024 a0001c0003t0019g0019 a0001c0003t0019g0024	2	332	0.0060	42	c.144 others(59): Show c.144-3284_144-3283insCATATATATATATATATATATATATATA TATATATATATATA	METTL8	ENSG00000123600.21	transcript	ENST00000375258.9	protein_coding	2/9			chr2	TogoVar
METTL9_chr16_21594577_21662471	21613168	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	364	0.0028	42	c.356 others(57): Show c.356+369_356+370insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(35): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03139.hp2 HG03540.hp1 others(1): Show HG02622.hp1 HG03139.hp2 HG03540.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0025 a0001c0003t0001g0200 a0001c0003t0002g0003 a0001c0003t0001g0025 a0001c0003t0001g0200 a0001c0003t0002g0003	4	436	0.0092	42	c.-67 others(51): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding		615		chr15	TogoVar
MFSD14A_chr1_100033095_100088377	100059144	G G	GTTTTTTT others(35): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	242	0.0041	42	c.243 others(57): Show c.243+443_243+444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	MFSD14A	ENSG00000156875.14	transcript	ENST00000370152.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD3_chr8_144504070_144516213	144505490	G G	GTGCGTTC others(35): Show GTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0002 a0007c0010t0001g0002	1	400	0.0025	42	c.-38 others(53): Show c.-3844_-3843insTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGC GCCCACGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		3579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144505532	T T	TTGCGTTC others(35): Show TTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGCGCCCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	42	c.-38 others(53): Show c.-3802_-3801insTGCGTTCCCCGCCGCCCCGCCCCACTCCCCCCGC GCCCACGG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		3537		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144505646	C C	CCCGCGCC others(35): Show CCCGCGCCCACGGTGCGTTCCCCGCCGCCCCGCCCCACTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0002 a0007c0010t0001g0002	1	400	0.0025	42	c.-36 others(53): Show c.-3688_-3687insCCGCGCCCACGGTGCGTTCCCCGCCGCCCCGCCC CACTCCCT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		3423		chr8	TogoVar
MGAM2_chr7_142106718_142227324	142171625	T T	TCCACAAC others(35): Show TCCACAACTGACAGAGGGAAATATATATATATTTCCCTCTGTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG02630.hp1 HG03098.hp1	a0027 a0027	a0027c0073 a0027c0074 a0027c0073 a0027c0074	a0027c0073t0001 a0027c0074t0001 a0027c0073t0001 a0027c0074t0001	a0027c0073t0001g0031 a0027c0074t0001g0186 a0027c0073t0001g0031 a0027c0074t0001g0186	2	329	0.0061	42	c.335 others(59): Show c.3351+185_3351+186insCCACAACTGACAGAGGGAAATATATATA TATTTCCCTCTGTC	MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	28/47			chr7	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	ATATATAT others(35): Show ATATATATATAAATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0001 a0002c0072t0001	a0002c0072t0001g0164 a0002c0072t0001g0164	1	316	0.0032	42	c.500 others(59): Show c.5004+562_5004+563insATATATATAAATATATATATATATATAT ATATTTTTTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT5_chr2_134249072_134459621	134334496	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0023 a0001c0001t0045g0023	1	282	0.0036	42	c.574 others(59): Show c.574-1698_574-1697insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134381364	T T	TAGATAGA others(35): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0034 a0001c0001t0041g0034	1	282	0.0036	42	c.138 others(63): Show c.1380+18961_1380+18962insGATAGATAGATAGATAGATAGATA GATAGATAAGATAAGATA	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134381369	A A	AGATAGAT others(35): Show AGATAGATAGATAGATAGATAGATAGATAAGATAAGATAAGAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0108 a0002c0006t0004g0108	1	282	0.0036	42	c.138 others(63): Show c.1380+18961_1380+18962insGATAGATAGATAGATAGATAGATA GATAAGATAAGATAAGAT	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15			chr2	TogoVar
MGA_chr15_41655405_41774940	41656377	T T	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0002 a0020c0034t0002	a0020c0034t0002g0214 a0020c0034t0002g0214	1	292	0.0034	42	c.-42 others(53): Show c.-4216_-4215insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCACA	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4027		chr15	TogoVar
MGA_chr15_41655405_41774940	41656377	T T	TCTCTCTC others(35): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	292	0.0034	42	c.-42 others(53): Show c.-4216_-4215insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCA	MGA	ENSG00000174197.19	transcript	ENST00000703841.1	protein_coding		4027		chr15	TogoVar
MGMT_chr10_129462241_129775983	129646719	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0080 a0001c0001t0011g0080	1	194	0.0052	42	c.126 others(61): Show c.126-61140_126-61139insATATATATATATATATATATATATAT ATATATATATATATAT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MIA2_chr14_39228915_39355694	39298442	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATGTAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0034 a0034	a0034c0045 a0034c0045	a0034c0045t0001 a0034c0045t0001	a0034c0045t0001g0006 a0034c0045t0001g0006	1	368	0.0027	42	c.249 others(61): Show c.2497-1421_2497-1420insTATATATATATATATATATATATATA TATATATATATGTAAA	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICU2_chr13_21487691_21609170	21570978	C C	CTTAATCT others(35): Show CTTAATCTGTTCTTTTCCTTTCTTTCTTCACTTCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	316	0.0032	42	c.211 others(59): Show c.211-4076_211-4035dupAGGAAGGAAGAAGTGAAGAAAGAAAGGA AAAGAACAGATTAA	MICU2	ENSG00000165487.14	transcript	ENST00000382374.9	protein_coding	1/11			chr13	TogoVar

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