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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
METTL27_chr7_73829590_73847516	73842642	G G	GCCCCCCC others(22): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0004 a0009c0009t0004	a0009c0009t0004g0120 a0009c0009t0004g0120	1	372	0.0027	29	c.-15 others(38): Show c.-158_-157insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG		METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding					127		chr7	TogoVar
METTL2B_chr7_128471748_128511602	128484217	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0127 a0001c0003t0002g0127	1	406	0.0025	29	c.608 others(46): Show c.608+3549_608+3550insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
METTL9_chr16_21594577_21662471	21613168	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	364	0.0028	29	c.356 others(44): Show c.356+341_356+369dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
METTL9_chr16_21594577_21662471	21622141	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0345 a0001c0001t0001g0345	1	364	0.0028	29	c.567 others(46): Show c.567-2769_567-2768insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
MFAP1_chr15_43799492_43829690	43821471	T T	TAGTTTAC others(22): Show TAGTTTACCAGATATGTCAGTGACCCAGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	340	0.0029	29	c.79+ others(44): Show c.79+2991_79+3019dupTCCTGGGTCACTGACATATCTGGTAAACT		MFAP1	ENSG00000140259.7	transcript	ENST00000267812.4	protein_coding	1/8						chr15	TogoVar
MFGE8_chr15_88893683_88918379	88913993	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 NA18992.hp1 HG02273.hp2 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0003 a0001c0003t0003g0151 a0001c0003t0002g0003 a0001c0003t0003g0151	2	436	0.0046	29	c.-67 others(38): Show c.-675_-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MFGE8	ENSG00000140545.16	transcript	ENST00000268150.13	protein_coding					615		chr15	TogoVar
MFSD10_chr4_2925567_2939825	2929397	C C	CAGCCAGA others(22): Show CAGCCAGAAAGATGCCCTAGTTGTGATCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	29	c.14 others(40): Show c.1412_*1440dupTTGATCACAACTAGGGCATCTTTCTGGCT		MFSD10	ENSG00000109736.15	transcript	ENST00000355443.9	protein_coding					1169		chr4	TogoVar
MFSD10_chr4_2925567_2939825	2937421	C C	CCGTCATC others(22): Show CCGTCATCCCCTGGGGAATGCCTCGGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	29	c.-26 others(40): Show c.-2675_-2674insCAGGCCGAGGCATTCCCCAGGGGATGACG		MFSD10	ENSG00000109736.15	transcript	ENST00000355443.9	protein_coding					2597		chr4	TogoVar
MFSD11_chr17_76733119_76784341	76755812	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	348	0.0029	29	c.682 others(46): Show c.682+1726_682+1727insATATATATATATATATATATATTTTTTT T		MFSD11	ENSG00000092931.12	transcript	ENST00000685175.1	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
MFSD11_chr17_76733119_76784341	76755813	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	348	0.0029	29	c.682 others(46): Show c.682+1726_682+1727insATATATATATATATATATATATATATAT A		MFSD11	ENSG00000092931.12	transcript	ENST00000685175.1	protein_coding	8/12						chr17	TogoVar
MFSD14B_chr9_94369569_94466042	94373681	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	350	0.0029	29	c.-11 others(40): Show c.-1139_-1138insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MFSD14B	ENSG00000148110.17	transcript	ENST00000375344.8	protein_coding					887		chr9	TogoVar
MGAM2_chr7_142106718_142227324	142174715	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19004.hp2 NA18993.hp2 NA19004.hp2	a0001 a0063 a0001 a0063	a0001c0001 a0063c0056 a0001c0001 a0063c0056	a0001c0001t0001 a0063c0056t0001 a0001c0001t0001 a0063c0056t0001	a0001c0001t0001g0172 a0063c0056t0001g0208 a0001c0001t0001g0172 a0063c0056t0001g0208	2	329	0.0061	29	c.368 others(46): Show c.3688-919_3688-918insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		MGAM2	ENSG00000257743.9	transcript	ENST00000477922.4	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142041566	G G	GTCTTTCA others(22): Show GTCTTTCATTAATAGGGTATTCAAAACCAA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0080 a0003c0006t0001g0080	1	316	0.0032	29	c.249 others(46): Show c.2498+723_2498+751dupTTTCATTAATAGGGTATTCAAAACCAAT C		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042491	A A	ATATATAT others(22): Show ATATATATAATATATATTATATATACATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0095 a0003c0006t0001g0095	1	316	0.0032	29	c.249 others(48): Show c.2498+1660_2498+1661insTTATATATACATATTATATATAATAT ATA		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142046044	A A	ATACATAT others(22): Show ATACATATAATATGTAATATAATATTATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0041 a0041	a0041c0077 a0041c0077	a0041c0077t0001 a0041c0077t0001	a0041c0077t0001g0184 a0041c0077t0001g0184	1	316	0.0032	29	c.249 others(48): Show c.2499-1735_2499-1734insTAATATGTAATATAATATTATATTAC ATA		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142046051	C C	CAATATGT others(22): Show CAATATGTAATATAATATTATATTACATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0105 a0001c0026t0001g0105	1	316	0.0032	29	c.249 others(48): Show c.2499-1717_2499-1716insTATATTACATATAATATGTAATATAA TAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142046057	G G	GTAATATA others(22): Show GTAATATAATATTATATTACATATAATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp2 HG03209.hp2 HG02258.hp2 HG03130.hp2 HG03209.hp2	a0001 a0042 a0049 a0001 a0042 a0049	a0001c0078 a0042c0107 a0049c0054 a0001c0078 a0042c0107 a0049c0054	a0001c0078t0001 a0042c0107t0001 a0049c0054t0001 a0001c0078t0001 a0042c0107t0001 a0049c0054t0001	a0001c0078t0001g0065 a0042c0107t0001g0309 a0049c0054t0001g0165 a0001c0078t0001g0065 a0042c0107t0001g0309 a0049c0054t0001g0165	3	316	0.0095	29	c.249 others(48): Show c.2499-1717_2499-1716insTATATTACATATAATATATAATATAA TAT		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT1_chr5_180779780_180807806	180788634	C C	CAAGTAAG others(22): Show CAAGTAAGTTGGTACTTATCCTGGAGCACT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0064 a0003c0003t0064	a0003c0003t0064g0308 a0003c0003t0064g0308	1	436	0.0023	29	c.29 others(40): Show c.2971_*2999dupAGTGCTCCAGGATAAGTACCAACTTACTT		MGAT1	ENSG00000131446.17	transcript	ENST00000307826.5	protein_coding	2/2				2999		chr5	TogoVar
MGAT5B_chr17_76863404_76955393	76935432	T T	TGGTCATG others(22): Show TGGTCATGCCATTTTATAGTCCTACCAGCA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18977.hp2 NA18954.hp1 NA18977.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0015 a0001c0013 a0002c0015	a0001c0013t0001 a0002c0015t0003 a0001c0013t0001 a0002c0015t0003	a0001c0013t0001g0251 a0002c0015t0003g0110 a0001c0013t0001g0251 a0002c0015t0003g0110	2	278	0.0072	29	c.142 others(48): Show c.1428+2135_1428+2136insGGTCATGCCATTTTATAGTCCTACCA GCA		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	12/17						chr17	TogoVar
MGAT5_chr2_134249072_134459621	134381364	T T	TAGATAGA others(22): Show TAGATAGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02630.hp2 others(3): Show HG02258.hp2 HG02280.hp1 HG02630.hp2 HG03491.hp2 HG03927.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0068 a0001c0002t0106	a0001c0001t0001g0137 a0001c0001t0005g0022 a0001c0001t0006g0094 others(3): Show a0001c0001t0001g0137 a0001c0001t0005g0022 a0001c0001t0006g0094 a0001c0001t0017g0136 a0001c0001t0068g0021 a0001c0002t0106g0248	6	282	0.0213	29	c.138 others(50): Show c.1380+18961_1380+18962insGATAGATAGATAGATAGATAGATA AGATA		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	282	0.0036	29	c.138 others(50): Show c.1381-15655_1381-15654insATATATATATATATATATATATAT ATATT		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0012 a0001c0001t0007g0012	1	282	0.0036	29	c.138 others(50): Show c.1381-15655_1381-15654insATATATATATATATATATATATAT ATTTT		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02145.hp1 HG02056.hp2 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0126 a0001c0001t0014g0258 a0001c0001t0003g0126 a0001c0001t0014g0258	2	282	0.0071	29	c.138 others(50): Show c.1381-15655_1381-15654insATATATATATATATATATATATTT TTTTT		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	282	0.0036	29	c.138 others(50): Show c.1381-15655_1381-15654insATATATATATATATATATATTTTT TTTTT		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	282	0.0036	29	c.138 others(50): Show c.1381-15655_1381-15654insATATATATATATATATATTTTTTT TTTTT		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGAT5_chr2_134249072_134459621	134387332	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0187 a0001c0001t0042g0187	1	282	0.0036	29	c.138 others(50): Show c.1381-15655_1381-15654insATATATATATATATTTTTTTTTTT TTTTT		MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	194	0.0052	29	c.126 others(48): Show c.126-61140_126-61139insATATATATATATATATATTTTTTTTT TTT		MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129646754	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0161 a0001c0001t0001g0162	2	194	0.0103	29	c.126 others(48): Show c.126-61140_126-61139insATATATATATATATATTTTTTTTTTT TTT		MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129773386	G G	GCAAGGCG others(22): Show GCAAGGCGTGGCCTGCTGGGGTGTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	194	0.0052	29	c.63 others(40): Show c.6389_*6390insCAAGGCGTGGCCTGCTGGGGTGTCCCCTC		MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding					2404		chr10	TogoVar
MGST2_chr4_139660819_139709243	139702844	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02004.hp2 HG02738.hp2 HG01069.hp1 HG02004.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0112 a0001c0001t0001g0250 a0001c0001t0001g0035 a0001c0001t0001g0112 a0001c0001t0001g0250	3	440	0.0068	29	c.230 others(44): Show c.230-585_230-584insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MGST2	ENSG00000085871.9	transcript	ENST00000265498.6	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
MIB2_chr1_1610500_1635605	1623855	T T	TGGACTAC others(22): Show TGGACTACGACCTCTGCACGCAGTGCTACA	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0001 a0015c0016t0001	a0015c0016t0001g0061 a0015c0016t0001g0061	1	412	0.0024	29	c.330 others(36): Show c.330_358dupGGACTACGACCTCTGCACGCAGTGCTACA	p.Met others(5): Show p.Met120fs	MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	4/20	622/3206	359/2868	120/955		INFO_REALIGN_3_PRIME	chr1	TogoVar
MICU1_chr10_72362340_72631079	72366043	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0022 a0001c0001t0007g0022	1	208	0.0048	29	c.21 others(40): Show c.2151_*2152insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MICU1	ENSG00000107745.20	transcript	ENST00000361114.10	protein_coding					1296		chr10	TogoVar
MIEN1_chr17_39723510_39735532	39724272	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	29	c.52 others(40): Show c.5249_*5250insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MIEN1	ENSG00000141741.12	transcript	ENST00000394231.8	protein_coding					4237		chr17	TogoVar
MINAR1_chr15_79427336_79477304	79437835	G G	GAGTGGGT others(22): Show GAGTGGGTGGGGTGTGGGTGTGGGGTGGGT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0170 a0001c0004t0004g0170	1	390	0.0026	29	c.-51 others(46): Show c.-51+5299_-51+5300insGGTGGGGTGTGGGTGTGGGGTGGGTAGT G		MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79438273	G G	GTGGGTGG others(22): Show GTGGGTGGGTAGTGTGTGGGGTGTGGGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0171 a0001c0001t0009g0171	1	390	0.0026	29	c.-51 others(46): Show c.-51+5733_-51+5734insTGGGTGGGTAGTGTGTGGGGTGTGGGTG T		MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3						chr15	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02895.hp1 NA19043.hp1 others(1): Show HG02647.hp2 HG02895.hp1 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0029 a0001c0001t0031 a0001c0001t0008 a0001c0001t0029 a0001c0001t0031	a0001c0001t0008g0041 a0001c0001t0008g0044 a0001c0001t0029g0162 others(1): Show a0001c0001t0008g0041 a0001c0001t0008g0044 a0001c0001t0029g0162 a0001c0001t0031g0181	4	420	0.0095	29	c.37 others(40): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding					3456		chr3	TogoVar
MKKS_chr20_10396009_10439222	10427021	A A	ACTGACAC others(22): Show ACTGACACACACACAGACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0332 a0002c0002t0005g0332	1	390	0.0026	29	c.-64 others(48): Show c.-648-6264_-648-6263insGTGTGTGTGTGTGTCTGTGTGTGTGT CAG		MKKS	ENSG00000125863.20	transcript	ENST00000347364.7	protein_coding	1/5						chr20	TogoVar
MKNK1_chr1_46552407_46609268	46564044	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	346	0.0029	29	c.609 others(44): Show c.609+996_609+997insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		MKNK1	ENSG00000079277.22	transcript	ENST00000371945.10	protein_coding	9/12						chr1	TogoVar
MLC1_chr22_50054391_50090426	50081009	A A	AGAAAGAA others(22): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	212	0.0047	29	c.268 others(44): Show c.268-613_268-612insCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	3/11						chr22	TogoVar
MLF1_chr3_158566194_158611456	158607230	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	380	0.0026	29	c.20 others(40): Show c.2028_*2029insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MLF1	ENSG00000178053.21	transcript	ENST00000466246.7	protein_coding					775		chr3	TogoVar
MLIP_chr6_54106443_54271280	54251972	C C	CAGATAAT others(22): Show CAGATAATATAAATATATATATTATAACAT	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	29	c.292 others(48): Show c.2923-5335_2923-5334insGATAATATAAATATATATATTATAAC ATA		MLIP	ENSG00000146147.15	transcript	ENST00000502396.6	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr6	TogoVar
MLPH_chr2_237482251_237560322	237485052	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA18522.hp2 HG02723.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0108 a0003c0003t0002g0110 a0003c0003t0001g0108 a0003c0003t0002g0110	2	286	0.0070	29	c.-24 others(40): Show c.-2410_-2409insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding					2198		chr2	TogoVar
MLPH_chr2_237482251_237560322	237524321	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02922.hp2 HG01358.hp2 HG02922.hp2	a0006 a0008 a0006 a0008	a0006c0006 a0008c0009 a0006c0006 a0008c0009	a0006c0006t0003 a0008c0009t0002 a0006c0006t0003 a0008c0009t0002	a0006c0006t0003g0118 a0008c0009t0002g0113 a0006c0006t0003g0118 a0008c0009t0002g0113	2	286	0.0070	29	c.676 others(46): Show c.676-1280_676-1279insTATATATATATATATATATATATATATA T		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15						chr2	TogoVar
MLPH_chr2_237482251_237560322	237543318	G G	GGGACAGT others(22): Show GGGACAGTGGTGAGTGGGGGGATGGTGAGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02056.hp2 NA18975.hp2 others(1): Show HG02004.hp1 HG02056.hp2 NA18975.hp2 NA19067.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0002c0002t0002 a0004c0005t0004 a0002c0002t0001 a0002c0002t0002 a0004c0005t0004	a0002c0002t0001g0070 a0002c0002t0002g0056 a0002c0002t0002g0153 others(1): Show a0002c0002t0001g0070 a0002c0002t0002g0056 a0002c0002t0002g0153 a0004c0005t0004g0191	4	286	0.0140	29	c.153 others(46): Show c.1539+661_1539+662insACAGTGGTGAGTGGGGGGATGGTGAGTG G		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01496.hp2 HG01109.hp2 HG01496.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0013 a0002c0002 a0015c0013	a0002c0002t0016 a0015c0013t0002 a0002c0002t0016 a0015c0013t0002	a0002c0002t0016g0177 a0015c0013t0002g0231 a0002c0002t0016g0177 a0015c0013t0002g0231	2	354	0.0057	29	c.414 others(46): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
MMD2_chr7_4900998_4964187	4945237	T T	TTCTTCTT others(22): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	382	0.0026	29	c.47+ others(46): Show c.47+13733_47+13734insGAAGAAGAAGAAGAAGAAGAAGAAGAAG A		MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6						chr7	TogoVar
MME_chr3_155075319_155188704	155133062	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	336	0.0030	29	c.721 others(46): Show c.721-5039_721-5038insATATATATATATATATATATATATATAT A		MME	ENSG00000196549.13	transcript	ENST00000360490.7	protein_coding	8/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
MMP17_chr12_131823393_131856771	131827365	G G	GGGGGGGG others(22): Show GGGGGGGGGGGGGGGGGAGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	398	0.0025	29	c.-11 others(40): Show c.-1130_-1129insGGGGGGGGGGGGGGGGAGGGGGTGGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1027		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827366	G G	GGGGGGGG others(22): Show GGGGGGGGGGGGGGAGGGGGGGGGTGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	398	0.0025	29	c.-11 others(40): Show c.-1129_-1128insGGGGGGGGGGGGGAGGGGGGGGGTGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1026		chr12	TogoVar
MMP17_chr12_131823393_131856771	131827369	G G	GGGGGGGG others(22): Show GGGGGGGGGAGGGGGGGGGGGTGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	398	0.0025	29	c.-11 others(40): Show c.-1126_-1125insGGGGGGGGAGGGGGGGGGGGTGGGGGGGT		MMP17	ENSG00000198598.7	transcript	ENST00000360564.5	protein_coding					1023		chr12	TogoVar

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