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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MAST2_chr1_45798612_46041122	45900195	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAGATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0119 a0002c0014t0001g0119	1	288	0.0035	26	c.500 others(45): Show c.500+17800_500+17801insAAAAAAAAAAAAAAAAAAAAAAGATT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
MAST3_chr19_18092778_18156687	18100128	C C	CTCTTTTT others(19): Show CTCTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18947.hp1 HG03834.hp2 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0001 a0001c0002t0002 a0002c0001t0001	a0001c0002t0002g0061 a0002c0001t0001g0060 a0001c0002t0002g0061 a0002c0001t0001g0060	2	296	0.0068	26	c.39+ others(41): Show c.39+2298_39+2299insCTTTTTTTTTTTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0022 a0008c0010t0022	a0008c0010t0022g0064 a0008c0010t0022g0064	1	108	0.0093	26	c.642 others(45): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGTGTGTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	66837864	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0007 a0007c0014t0007	a0007c0014t0007g0008 a0007c0014t0007g0008	1	108	0.0093	26	c.642 others(45): Show c.642+49076_642+49101dupATATATATATATATATATATATATAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67049023	G G	GTATATAT others(19): Show GTATATATATATACACGTATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	108	0.0093	26	c.675 others(43): Show c.675-5369_675-5368insCACGTATATATATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67049058	T T	TACGTGTA others(19): Show TACGTGTATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0017 a0002c0013t0017	a0002c0013t0017g0010 a0002c0013t0017g0010	1	108	0.0093	26	c.675 others(43): Show c.675-5342_675-5341insGTATATATATATATATATATACACGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67049063	A A	ATATATAT others(19): Show ATATATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0054 a0001c0002t0005g0054	1	108	0.0093	26	c.675 others(43): Show c.675-5325_675-5324insTATATATACGTATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67069287	G G	GATAGATA others(19): Show GATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0021 a0004c0007t0021	a0004c0007t0021g0057 a0004c0007t0021g0057	1	108	0.0093	26	c.763 others(45): Show c.763+14798_763+14799insGATATATATATATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67069287	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0079 a0001c0001t0008g0079	1	108	0.0093	26	c.763 others(45): Show c.763+14820_763+14821insTATATATATATATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078722	A A	ATATTTAT others(19): Show ATATTTATATTTATCTAAATATATATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp2 HG01243.hp2 HG03130.hp2	a0005 a0016 a0005 a0016	a0005c0006 a0016c0029 a0005c0006 a0016c0029	a0005c0006t0005 a0016c0029t0001 a0005c0006t0005 a0016c0029t0001	a0005c0006t0005g0037 a0016c0029t0001g0073 a0005c0006t0005g0037 a0016c0029t0001g0073	2	108	0.0185	26	c.764 others(45): Show c.764-11414_764-11389dupTTATTTATATTTATCTAAATATATAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078925	T T	TTTTTATA others(19): Show TTTTTATATTTTTATATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0009 a0001 a0009	a0001c0003 a0009c0032 a0001c0003 a0009c0032	a0001c0003t0029 a0009c0032t0006 a0001c0003t0029 a0009c0032t0006	a0001c0003t0029g0045 a0009c0032t0006g0107 a0001c0003t0029g0045 a0009c0032t0006g0107	2	108	0.0185	26	c.764 others(45): Show c.764-11237_764-11236insTTTTATATTTTTATATAAATAAATAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28			chr5	TogoVar
MATCAP2_chr7_36319152_36372240	36343544	G G	GGGGAGGG others(19): Show GGGGAGGGGAGAGGGGAGGGGCGGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0038 a0003c0004t0001g0038	1	388	0.0026	26	c.715 others(43): Show c.715-7248_715-7247insTCCCCGCCCCTCCCCTCTCCCCTCCC	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATN2_chr8_97864064_98041724	97889459	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01934.hp1 others(14): Show HG01515.hp1 HG01517.hp2 HG01934.hp1 HG02074.hp1 HG02074.hp2 HG02622.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp1 NA18945.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18973.hp1 NA18978.hp2 NA19083.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0002 a0001c0004 a0002c0006 others(5): Show a0001c0002 a0001c0004 a0002c0006 a0002c0007 a0003c0032 a0004c0005 a0007c0038 a0009c0022	a0001c0002t0001 a0001c0004t0001 a0002c0006t0001 others(5): Show a0001c0002t0001 a0001c0004t0001 a0002c0006t0001 a0002c0007t0003 a0003c0032t0002 a0004c0005t0001 a0007c0038t0001 a0009c0022t0002	a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0082 others(14): Show a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0082 a0001c0002t0001g0093 a0001c0002t0001g0294 a0001c0004t0001g0084 a0001c0004t0001g0092 a0002c0006t0001g0091 a0002c0007t0003g0022 a0002c0007t0003g0081 a0002c0007t0003g0085 a0003c0032t0002g0080 a0004c0005t0001g0077 a0004c0005t0001g0157 a0004c0005t0001g0178 a0007c0038t0001g0075 a0009c0022t0002g0192	17	318	0.0535	26	c.142 others(43): Show c.142+1222_142+1247dupTATATATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0002 a0006c0023t0002	a0006c0023t0002g0098 a0006c0023t0002g0100 a0006c0023t0002g0098 a0006c0023t0002g0100	2	318	0.0063	26	c.108 others(45): Show c.1082-6308_1082-6307insAAAAAAAAAAAAAATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0002 a0001c0058t0002	a0001c0058t0002g0003 a0001c0058t0002g0003	1	318	0.0031	26	c.108 others(45): Show c.1082-6308_1082-6307insAAAAAAAAAAAATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988189	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02622.hp2 NA20129.hp2 HG01074.hp2 HG02622.hp2 NA20129.hp2	a0002 a0017 a0002 a0017	a0002c0019 a0002c0033 a0017c0080 a0002c0019 a0002c0033 a0017c0080	a0002c0019t0003 a0002c0033t0003 a0017c0080t0003 a0002c0019t0003 a0002c0033t0003 a0017c0080t0003	a0002c0019t0003g0212 a0002c0033t0003g0017 a0017c0080t0003g0170 a0002c0019t0003g0212 a0002c0033t0003g0017 a0017c0080t0003g0170	3	318	0.0094	26	c.108 others(45): Show c.1082-6290_1082-6289insTATATATATATATATATACACACACA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97992745	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0067 a0001c0025t0006g0067	1	318	0.0031	26	c.108 others(45): Show c.1082-1710_1082-1709insAAAAAAAAAAAAAAAAAAAAAAAAAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02895.hp2 others(2): Show HG02622.hp1 HG02886.hp1 HG02895.hp2 HG04115.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0011 a0001c0002 a0001c0012 a0002c0011	a0001c0002t0001 a0001c0012t0001 a0002c0011t0001 a0001c0002t0001 a0001c0012t0001 a0002c0011t0001	a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0203 others(2): Show a0001c0002t0001g0087 a0001c0002t0001g0093 a0001c0002t0001g0203 a0001c0012t0001g0206 a0002c0011t0001g0047	5	318	0.0157	26	c.16 others(37): Show c.1680_*1681insTATATATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MATN3_chr2_19987052_20017668	20010064	T T	TCCAAAAA others(19): Show TCCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01433.hp2 HG04184.hp2 HG01258.hp1 HG01433.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270	3	432	0.0069	26	c.223 others(43): Show c.223+2344_223+2345insTTTTTTTTTTTTTTTTTTTTTTTTGG	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG00639.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0055 a0001c0003t0001g0055	2	432	0.0046	26	c.223 others(43): Show c.223+2341_223+2342insTTTTTTTTTTTTTTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01496.hp1 others(20): Show HG00639.hp1 HG00642.hp1 HG01496.hp1 HG01928.hp1 HG02015.hp2 HG02080.hp1 HG02451.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp2 HG04199.hp2 NA18612.hp2 NA18948.hp2 NA18953.hp1 NA18965.hp2 NA18967.hp2 NA18975.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19054.hp2 NA19066.hp1 NA19089.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0025 a0002c0003 others(2): Show a0001c0001 a0001c0025 a0002c0003 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0025t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0025t0001 a0002c0003t0001 a0005c0006t0001 a0006c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0088 a0001c0001t0001g0102 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0025t0001g0110 a0002c0003t0001g0056 a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0003t0001g0227 a0005c0006t0001g0109 a0006c0007t0001g0224	23	422	0.0545	26	c.-34 others(41): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MAZ_chr16_29801529_29816164	29815724	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	282	0.0036	26	c.54 others(37): Show c.5493_*5494insAAAAAAAAAAAAAAAAAAAAAAAAAA	MAZ	ENSG00000103495.15	transcript	ENST00000322945.11	protein_coding		4561		chr16	TogoVar
MB21D2_chr3_192791815_192922856	192916098	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	298	0.0034	26	c.211 others(43): Show c.211+1531_211+1532insTATATATATATATATATATATATATA	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD3L2B_chr19_7013969_7026431	7022034	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	350	0.0029	26	c.-63 others(35): Show c.-638_-637insTTTTTTTTTTTTTTTTTTTTTTTTTT	MBD3L2B	ENSG00000196589.8	transcript	ENST00000636986.2	protein_coding		604		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7052118	G G	GGCCTTCC others(19): Show GGCCTTCCAAGTACTGGCTACAGCATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	288	0.0035	26	c.42 others(37): Show c.4203_*4204insTATGCTGTAGCCAGTACTTGGAAGGC	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		4088		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062024	A A	ATATATAA others(19): Show ATATATAATTATATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	288	0.0035	26	c.-34 others(37): Show c.-3420_-3419insAATTATATTATATATATAATTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3349		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062344	A A	ATATAATA others(19): Show ATATAATATATTATATTATATTATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	26	c.-37 others(37): Show c.-3740_-3739insATTATAATATAATATAATATATTATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3669		chr19	TogoVar
MBD5_chr2_148016091_148521971	148180343	C C	CAGATATA others(19): Show CAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0151 a0001c0001t0014g0151	1	188	0.0053	26	c.-83 others(45): Show c.-831+1551_-831+1552insGATATATATATATATATATATATATA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148180343	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03209.hp1 NA18946.hp2 HG00323.hp2 HG03209.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001	a0001c0001t0003g0059 a0001c0001t0004g0065 a0001c0003t0001g0075 a0001c0001t0003g0059 a0001c0001t0004g0065 a0001c0003t0001g0075	3	188	0.0160	26	c.-83 others(45): Show c.-831+1568_-831+1569insATATATATATATATATATATATATAT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148239686	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03098.hp2 HG01261.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0156 a0001c0001t0018g0009 a0001c0001t0002g0156 a0001c0001t0018g0009	2	188	0.0106	26	c.-68 others(45): Show c.-680+6299_-680+6324dupCACACACACACACACACACACACACA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294509	T T	TTTTTTGT others(19): Show TTTTTTGTTTTTGTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01169.hp1 HG00738.hp2 HG01081.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0002 a0001c0001t0004 a0001c0001t0019	a0001c0001t0002g0103 a0001c0001t0004g0096 a0001c0001t0019g0146 a0001c0001t0002g0103 a0001c0001t0004g0096 a0001c0001t0019g0146	3	188	0.0160	26	c.-67 others(47): Show c.-679-47700_-679-47699insGTTTTTGTTTTTTTTTGTTTGTTT TT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148294509	T T	TTTTTTGT others(19): Show TTTTTTGTTTTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01106.hp2 others(1): Show HG00280.hp2 HG00741.hp1 HG01106.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0021	a0001c0001t0001g0080 a0001c0001t0004g0038 a0001c0001t0013g0166 others(1): Show a0001c0001t0001g0080 a0001c0001t0004g0038 a0001c0001t0013g0166 a0001c0001t0021g0097	4	188	0.0213	26	c.-67 others(47): Show c.-679-47700_-679-47699insGTTTTTTTTTTTTTTTGTTTGTTT TT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148330088	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp2 HG02683.hp2 others(1): Show HG01981.hp2 HG02004.hp2 HG02683.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0015 a0001c0001t0001 a0001c0001t0010 a0001c0001t0015	a0001c0001t0001g0019 a0001c0001t0001g0188 a0001c0001t0010g0127 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0188 a0001c0001t0010g0127 a0001c0001t0015g0023	4	188	0.0213	26	c.-67 others(47): Show c.-679-12121_-679-12096dupACACACACACACACACACACACAC AC	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148345541	A A	ATATACAC others(19): Show ATATACACATACATATGTATATACACG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	188	0.0053	26	c.-55 others(45): Show c.-557+3290_-557+3315dupCATACATATGTATATACACGTATACA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0015 a0002c0002t0006g0015	1	312	0.0032	26	c.48 others(37): Show c.4803_*4804insTTTTTTTTTTTTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBNL1_chr3_152263929_152470780	152286299	A A	ATTATATT others(19): Show ATTATATTTTATTTATAATATAAATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18957.hp2 NA18975.hp1 others(1): Show NA18944.hp1 NA18957.hp2 NA18975.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0281 a0001c0001t0001g0282 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0002g0280	4	338	0.0118	26	c.-78 others(47): Show c.-789-13087_-789-13086insTAAATATTTATATTTTATTTATAA TA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152286329	A A	ATTATATT others(19): Show ATTATATTTTATTTATAATATAAATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	338	0.0030	26	c.-78 others(47): Show c.-789-13046_-789-13021dupTATTTTATTTATAATATAAATATT TA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152286460	A A	ATATATTT others(19): Show ATATATTTTATTTATAATATAAATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG00642.hp2 others(85): Show HG00408.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02572.hp2 HG02683.hp2 HG02717.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18947.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18966.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp2 NA19075.hp2 NA19078.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0186 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0295 a0001c0001t0001g0314 a0001c0001t0001g0324 a0001c0001t0001g0330 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0131 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0299 a0001c0001t0002g0307 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0329 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0244 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0006g0193 a0001c0001t0008g0107 a0001c0001t0010g0286 a0001c0001t0011g0313 a0001c0001t0012g0095 a0001c0001t0013g0300 a0001c0001t0014g0028 a0001c0001t0015g0031 a0001c0001t0018g0211 a0001c0001t0024g0327	88	338	0.2604	26	c.-78 others(47): Show c.-789-12920_-789-12919insTTATATTTTATTTATAATATAAAT AT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152286482	A A	ATATATTT others(19): Show ATATATTTTATTTATAATATAAATATT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	338	0.0030	26	c.-78 others(47): Show c.-789-12897_-789-12872dupTTATATTTTATTTATAATATAAAT AT	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152286530	A A	ATATATTT others(19): Show ATATATTTTATTTATAATATAAATATT	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19009.hp2 HG02300.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0310 a0001c0001t0002g0089 a0001c0001t0001g0310 a0001c0001t0002g0089	2	338	0.0059	26	c.-78 others(47): Show c.-789-12846_-789-12821dupTATTTTATTTATAATATAAATATT TA	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	254	0.0039	26	c.174 others(45): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97388314	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02572.hp2 HG03195.hp2 HG00099.hp2 HG02572.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0002t0006g0197 a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0002t0006g0197	3	254	0.0118	26	c.104 others(45): Show c.1049-2986_1049-2985insATATATATATATATATATATATATAT	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132396347	T T	TATATATA others(19): Show TATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0002 a0001c0001t0043g0002	1	191	0.0052	26	c.343 others(43): Show c.343-4014_343-4013insGAATATATATATGAATATATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396725	C C	CATATATA others(19): Show CATATATATTCATATATATATTCATAT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0188 a0001c0001t0017g0188	1	191	0.0052	26	c.343 others(43): Show c.343-4392_343-4391insATATGAATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT4_chr8_30126671_30149665	30143347	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0068 a0003c0003t0001g0068	1	380	0.0026	26	c.119 others(43): Show c.119+1135_119+1136insTTTTTTTTTTTTTTTTTTTTTTTTTT	MBOAT4	ENSG00000177669.4	transcript	ENST00000320542.4	protein_coding	1/2			chr8	TogoVar
MBP_chr18_76973833_77137783	77074314	C C	CGGTCTCA others(19): Show CGGTCTCAAGGGGGTTCAGTGAGCCCG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0141 a0001c0003t0010g0141	1	396	0.0025	26	c.52- others(41): Show c.52-7955_52-7930dupCGGGCTCACTGAACCCCCTTGAGACC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBP_chr18_76973833_77137783	77081781	C C	CGTATATA others(19): Show CGTATATATATATGCACACACATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp2 NA18522.hp1 others(1): Show HG02451.hp1 HG02723.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0012 a0001c0009t0001	a0001c0001t0001g0007 a0001c0001t0002g0302 a0001c0002t0012g0012 others(1): Show a0001c0001t0001g0007 a0001c0001t0002g0302 a0001c0002t0012g0012 a0001c0009t0001g0205	4	396	0.0101	26	c.52- others(43): Show c.52-15397_52-15396insATATATGTGTGTGCATATATATATAC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	2/8			chr18	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0267 a0001c0001t0072g0267	1	340	0.0029	26	c.41 others(37): Show c.4153_*4154insATATATATATATATATTTTTTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0016 a0001c0002t0065g0016	1	340	0.0029	26	c.41 others(37): Show c.4153_*4154insATATATATATATATATATATTTTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar
MBTD1_chr17_51172425_51265049	51176422	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0301 a0001c0001t0037g0301	1	340	0.0029	26	c.41 others(37): Show c.4153_*4154insATATATATATATATATATATATTTTT	MBTD1	ENSG00000011258.16	transcript	ENST00000586178.6	protein_coding		1002		chr17	TogoVar

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