Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0021 a0021	a0021c0014 a0021c0014	a0021c0014t0006 a0021c0014t0006	a0021c0014t0006g0291 a0021c0014t0006g0291	1	328	0.0031	30	c.114 others(49): Show c.114+11389_114+11390insAAAAAATATATATATATATATATATA TATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPRE1_chr20_32814954_32855405	32854691	T T	TATATATA others(23): Show TATATATATGATCATATATAATATATATAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	386	0.0026	30	c.59 others(41): Show c.5963_*5964insATATATATGATCATATATAATATATATAAG	MAPRE1	ENSG00000101367.9	transcript	ENST00000375571.6	protein_coding		4287		chr20	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0008 a0009c0011t0008	a0009c0011t0008g0097 a0009c0011t0008g0097	1	253	0.0040	30	c.217 others(49): Show c.2174-1177_2174-1148dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02717.hp2 HG03492.hp2 others(2): Show HG02132.hp1 HG02717.hp2 HG03492.hp2 HG03831.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0053 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0053 a0001c0001t0001g0189 a0001c0001t0002g0098	5	280	0.0179	30	c.210 others(47): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62812459	G G	GCCAGTGT others(23): Show GCCAGTGTGGTGTTGCCTTCATCCATGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	280	0.0036	30	c.-44 others(41): Show c.-4401_-4400insTGTGCATGGATGAAGGCAACACCACACTGG	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding		4146		chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163643327	C C	CAAAAATA others(23): Show CAAAAATAAAAATAAAAATAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	102	0.0098	30	c.163 others(49): Show c.163-29964_163-29935dupATTTTTATTTTTATTTTTATTTTTAT TTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	5/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733193	A A	ATATATAT others(23): Show ATATATATATATATATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp1 HG02451.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0036 a0001c0001t0022g0040 a0001c0001t0001g0036 a0001c0001t0022g0040	2	102	0.0196	30	c.112 others(49): Show c.112-32331_112-32330insCACGTGTATATATATATATATATATA TATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733209	A A	ACACATGT others(23): Show ACACATGTATATATATATATATACACATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18952.hp1 HG02735.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0063 a0001c0002t0002g0094 a0001c0001t0010g0063 a0001c0002t0002g0094	2	102	0.0196	30	c.112 others(49): Show c.112-32347_112-32346insCACATGTGTATATATATATATATACA TGTG	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163866466	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0075 a0002c0003t0008g0075	1	102	0.0098	30	c.-38 others(49): Show c.-38-12298_-38-12297insTATATATATATATATATATATATATA TATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164220667	C C	CTATATAT others(23): Show CTATATATGCATATATGTAATATATATGCTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0039 a0001c0001t0017g0039	1	102	0.0098	30	c.-32 others(53): Show c.-322-109006_-322-109005insTAGCATATATATTACATATATG CATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164325333	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0051 a0001c0001t0007g0051	1	102	0.0098	30	c.-32 others(51): Show c.-323+58536_-323+58537insTATATATATATATATATATATATA TATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	1	102	0.0098	30	c.-32 others(51): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA TATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01361.hp1 others(14): Show HG00280.hp1 HG01123.hp1 HG01361.hp1 HG01433.hp1 HG01993.hp2 HG02258.hp2 HG02300.hp2 HG02602.hp1 HG02683.hp1 HG03139.hp2 HG03471.hp1 HG03654.hp2 NA18906.hp1 NA18954.hp1 NA18995.hp1 NA19011.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0030 a0001c0001t0049 a0001c0001t0050 a0001c0001t0081 a0001c0001t0098	a0001c0001t0001g0163 a0001c0001t0002g0071 a0001c0001t0002g0166 others(14): Show a0001c0001t0001g0163 a0001c0001t0002g0071 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0002g0214 a0001c0001t0003g0034 a0001c0001t0007g0039 a0001c0001t0007g0100 a0001c0001t0009g0033 a0001c0001t0012g0044 a0001c0001t0021g0138 a0001c0001t0030g0070 a0001c0001t0049g0237 a0001c0001t0050g0236 a0001c0001t0081g0075 a0001c0001t0098g0283	17	296	0.0574	30	c.37 others(41): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARK3_chr14_103380415_103508831	103452471	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	348	0.0029	30	c.412 others(45): Show c.412+506_412+507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18939.hp1 NA20752.hp2 HG00733.hp2 NA18939.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0041 a0001c0001t0003g0071 a0001c0001t0001g0051 a0001c0001t0003g0041 a0001c0001t0003g0071	3	348	0.0086	30	c.111 others(47): Show c.1111-336_1111-335insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103481757	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	348	0.0029	30	c.158 others(49): Show c.1586+1294_1586+1295insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	288	0.0035	30	c.500 others(47): Show c.500+6275_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST4_chr5_66591393_67174593	66837023	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0029 a0001c0001t0030g0029	1	108	0.0093	30	c.642 others(49): Show c.642+48229_642+48230insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	67057610	G G	GAAAGAAA others(23): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0001 a0001c0008t0007g0001	1	108	0.0093	30	c.763 others(47): Show c.763+3139_763+3140insAAGAAAAGAAAAGAAAAGAAAAGAAAAG AA	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(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0081 a0001c0002t0016g0081	1	108	0.0093	30	c.763 others(49): Show c.763+14820_763+14821insTATATATATATATATATATATATATA TATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MATN2_chr8_97864064_98041724	97889459	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18964.hp2 NA18970.hp2 others(1): Show HG04115.hp1 NA18964.hp2 NA18970.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0024	a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0024t0002	a0001c0001t0002g0304 a0001c0002t0001g0087 a0001c0004t0001g0234 others(1): Show a0001c0001t0002g0304 a0001c0002t0001g0087 a0001c0004t0001g0234 a0001c0024t0002g0090	4	318	0.0126	30	c.142 others(47): Show c.142+1218_142+1247dupTATATATATATATATATATATATATATA TA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97889472	T T	TAATATAT others(23): Show TAATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0068 a0005c0013t0002g0068	1	318	0.0031	30	c.142 others(47): Show c.142+1231_142+1232insATATATATATATATATATATATATATAT AA	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(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0012 a0012	a0012c0061 a0012c0061	a0012c0061t0002 a0012c0061t0002	a0012c0061t0002g0018 a0012c0061t0002g0018	1	318	0.0031	30	c.108 others(49): Show c.1082-6308_1082-6307insAAAAAAAAAAAAAATATATATATATA TATA	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(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0077 a0002c0077	a0002c0077t0002 a0002c0077t0002	a0002c0077t0002g0118 a0002c0077t0002g0118	1	318	0.0031	30	c.108 others(49): Show c.1082-6308_1082-6307insAAAAAAAAAAAATATATATATATATA TATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98037386	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0126 a0003c0015t0002g0126	1	318	0.0031	30	c.16 others(41): Show c.1674_*1675insTGTGTGTGTGTGTGTATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		663		chr8	TogoVar
MATN2_chr8_97864064_98041724	98037392	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02129.hp1 HG02818.hp1 others(5): Show HG01109.hp1 HG02129.hp1 HG02818.hp1 NA18612.hp2 NA18949.hp1 NA18973.hp2 NA18983.hp1 NA19066.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0012 others(1): Show a0001c0002 a0001c0004 a0001c0012 a0004c0005	a0001c0002t0001 a0001c0004t0001 a0001c0012t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0012t0001 a0004c0005t0001	a0001c0002t0001g0105 a0001c0002t0001g0163 a0001c0002t0001g0201 others(5): Show a0001c0002t0001g0105 a0001c0002t0001g0163 a0001c0002t0001g0201 a0001c0002t0001g0235 a0001c0002t0001g0274 a0001c0004t0001g0227 a0001c0012t0001g0216 a0004c0005t0001g0171	8	318	0.0252	30	c.16 others(41): Show c.1680_*1681insTATATATATATATATATATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding		669		chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG02293.hp2 others(5): Show HG00639.hp2 HG01167.hp2 HG02293.hp2 NA18947.hp1 NA18964.hp1 NA18973.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0058 a0001c0001t0001g0282 a0001c0001t0001g0283 others(4): Show a0001c0001t0001g0058 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0002t0002g0281 a0001c0003t0001g0285 a0001c0003t0001g0286	8	432	0.0185	30	c.223 others(47): Show c.223+2341_223+2342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19080.hp1 NA21309.hp1 HG01975.hp2 NA19080.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0094 a0002c0003t0001g0215 a0002c0003t0001g0216 a0001c0001t0001g0094 a0002c0003t0001g0215 a0002c0003t0001g0216	3	422	0.0071	30	c.-34 others(45): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MAU2_chr19_19315829_19363754	19326704	A A	ATATATAT others(23): Show ATATATATATATATACGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	344	0.0029	30	c.276 others(47): Show c.276+5583_276+5584insCGTATATATATATATGTATATATATATA TA	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
MB21D2_chr3_192791815_192922856	192916098	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20300.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	298	0.0067	30	c.211 others(47): Show c.211+1531_211+1532insTATATATATATATATATATATATATATA TA	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD2_chr18_54146606_54229669	54180897	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0247 a0001c0001t0007g0247	1	300	0.0033	30	c.840 others(47): Show c.840+7976_840+7977insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD3L2_chr19_7044321_7056735	7053262	T T	TTATATAT others(23): Show TTATATATAATTATAAATACATTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG03041.hp2 HG01109.hp2 HG01891.hp1 HG03041.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0022 a0002c0004t0003g0041 a0002c0004t0003g0022 a0002c0004t0003g0041	3	258	0.0116	30	c.16 others(41): Show c.1640_*1641insTATATATAATTATAAATACATTATATATAA	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1528		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7053830	A A	ATATATTA others(23): Show ATATATTATAATTATATAATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(113): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18992.hp1 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19082.hp2 NA19088.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0001c0011 others(1): Show a0001c0001 a0001c0008 a0001c0011 a0003c0006	a0001c0001t0002 a0001c0001t0006 a0001c0008t0002 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0008t0002 a0001c0011t0002 a0003c0006t0001	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(15): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0006g0001 a0001c0008t0002g0001 a0001c0011t0002g0029 a0003c0006t0001g0009	116	258	0.4496	30	c.22 others(41): Show c.2208_*2209insTATATTATAATTATATAATATAATATATAT	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		2096		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053262	T T	TTATATAT others(23): Show TTATATATAATTATAAATACATTATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01109.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0018	2	288	0.0069	30	c.30 others(41): Show c.3059_*3060insTTATATATAATGTATTTATAATTATATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2944		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053830	A A	ATATATTA others(23): Show ATATATTATAATTATATAATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(123): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18998.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19082.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0012 a0015	a0001c0001 a0001c0015 a0002c0002 others(3): Show a0001c0001 a0001c0015 a0002c0002 a0009c0011 a0012c0018 a0015c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0015t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0009c0011t0001 a0012c0018t0001 a0015c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0002g0003 a0001c0001t0002g0019 a0001c0001t0003g0009 a0001c0001t0005g0030 a0001c0015t0001g0029 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0003g0023 a0002c0002t0006g0047 a0009c0011t0001g0024 a0012c0018t0001g0032 a0015c0009t0001g0028	126	288	0.4375	30	c.24 others(41): Show c.2491_*2492insATATATATTATATTATATAATTATAATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2376		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053834	A A	ATTATAAT others(23): Show ATTATAATTATATAATATAATATATATTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	30	c.24 others(41): Show c.2487_*2488insGATAATATATATTATATTATATAATTATAA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2372		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062125	A A	ATATTATA others(23): Show ATATTATATATAATTATATATATAATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	30	c.-35 others(41): Show c.-3521_-3520insATATAATTATATATATAATTATATATAATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3450		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7035512	A A	ATATAATA others(23): Show ATATAATATAATATATATTATATTATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0002 a0023c0031t0002	a0023c0031t0002g0051 a0023c0031t0002g0051	1	262	0.0038	30	c.23 others(41): Show c.2348_*2349insATTATATAATATAATATATATTATATTATA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2236		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035512	A A	ATATAATA others(23): Show ATATAATATAATATATATTATATTATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0006 a0002c0008t0002g0006	1	249	0.0040	30	c.26 others(41): Show c.2618_*2619insTATAATATAATATATATTATATTATATAAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2502		chr19	TogoVar
MBD5_chr2_148016091_148521971	148239686	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	188	0.0053	30	c.-68 others(49): Show c.-680+6295_-680+6324dupCACACACACACACACACACACACACA CACA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296863	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	188	0.0053	30	c.-67 others(51): Show c.-679-45351_-679-45350insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13			chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp1 HG01243.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0111 a0001c0003t0001g0075 a0001c0001t0003g0111 a0001c0003t0001g0075	2	188	0.0106	30	c.-67 others(51): Show c.-679-45330_-679-45329insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02165.hp2 HG02647.hp2 others(4): Show HG02055.hp2 HG02165.hp2 HG02647.hp2 HG02698.hp2 HG04115.hp1 NA18747.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0096 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0152 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0002g0011	7	254	0.0276	30	c.174 others(49): Show c.174+15508_174+15509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL2_chr13_97217333_97399120	97368412	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01952.hp2 HG03239.hp1 others(5): Show HG00423.hp1 HG01952.hp2 HG03239.hp1 NA18948.hp2 NA18951.hp2 NA18967.hp2 NA19043.hp1 NA19056.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0002t0001 a0004c0004t0001 a0001c0001t0001 a0001c0002t0001 a0004c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0217 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0064 a0001c0001t0001g0217 a0001c0001t0001g0251 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0004c0004t0001g0232	8	254	0.0315	30	c.104 others(49): Show c.1048+3268_1048+3269insAAATAAAATAAAATAAAATAAAATAA AATA	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(23): Show TATATATATTCATATATATACATATATATTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0098 a0001c0001t0006g0098	1	191	0.0052	30	c.343 others(47): Show c.343-4014_343-4013insGAATATATATGTATATATATGAATATAT AT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396829	T T	TATATATA others(23): Show TATATATATTCATATATACATATATATATTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0103 a0001c0001t0013g0103	1	191	0.0052	30	c.343 others(47): Show c.343-4496_343-4495insGAATATATATATGTATATATGAATATAT AT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396847	C C	CATATATA others(23): Show CATATATATTCATATATATTCATATATACAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0023 a0001c0001t0041g0023	1	191	0.0052	30	c.343 others(47): Show c.343-4514_343-4513insATGTATATATGAATATATATGAATATAT AT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBOAT1_chr6_20094684_20217469	20168599	G G	GAGAGAAG others(23): Show GAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0017 a0001c0001t0036g0017	1	336	0.0030	30	c.100 others(49): Show c.100-15860_100-15831dupTCTCTTCTCTTCTCTTCTCTTCTCTT CTCT	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168630	A A	AGAGAGGA others(23): Show AGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	336	0.0030	30	c.100 others(49): Show c.100-15862_100-15861insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar
MBOAT1_chr6_20094684_20217469	20168640	A A	AGAGAAGA others(23): Show AGAGAAGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0271 a0001c0001t0007g0271	1	336	0.0030	30	c.100 others(49): Show c.100-15872_100-15871insCTCTCCTCTCCTCTCCTCTCCTCTCT TCTC	MBOAT1	ENSG00000172197.11	transcript	ENST00000324607.8	protein_coding	1/12			chr6	TogoVar

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