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
MASP1_chr3_187229082_187296737	187268525	G G	GAAAGAAA others(8): Show GAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0327 a0001c0005t0007g0327	1	400	0.0025	15	c.238 others(32): Show c.238-5820_238-5806dupTCTTTTCTTTTCTTT	MASP1	ENSG00000127241.18	transcript	ENST00000296280.11	protein_coding	2/10			chr3	TogoVar
MAST1_chr19_12833515_12879952	12868103	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01993.hp2 HG02273.hp2 others(2): Show HG01167.hp1 HG01993.hp2 HG02273.hp2 HG02615.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0289 a0001c0001t0001g0290 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0295	5	316	0.0158	15	c.256 others(32): Show c.2566+135_2566+149dupTTTTTTTTTTTTTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02258.hp2 HG03139.hp1 HG00673.hp1 HG02258.hp2 HG03139.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0003c0017 a0002c0009 a0003c0017	a0002c0009t0001 a0003c0017t0001 a0002c0009t0001 a0003c0017t0001	a0002c0009t0001g0003 a0002c0009t0001g0004 a0003c0017t0001g0108 a0002c0009t0001g0003 a0002c0009t0001g0004 a0003c0017t0001g0108	3	288	0.0104	15	c.500 others(32): Show c.500+1525_500+1526insCCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(8): Show GCCTCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG01934.hp2 others(14): Show HG00323.hp1 HG01081.hp2 HG01934.hp2 HG01952.hp2 HG02040.hp1 HG02523.hp1 HG03492.hp2 HG03831.hp2 HG06807.hp1 NA18947.hp1 NA18960.hp2 NA18969.hp1 NA18975.hp1 NA19065.hp2 NA19066.hp2 NA19077.hp2 NA21309.hp1	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0012	a0001c0001 a0007c0008 a0008c0010 others(1): Show a0001c0001 a0007c0008 a0008c0010 a0012c0016	a0001c0001t0001 a0007c0008t0001 a0008c0010t0001 others(1): Show a0001c0001t0001 a0007c0008t0001 a0008c0010t0001 a0012c0016t0003	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 others(14): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0244 a0007c0008t0001g0207 a0008c0010t0001g0168 a0012c0016t0003g0155	17	288	0.0590	15	c.500 others(32): Show c.500+1519_500+1520insTCCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03710.hp2 NA18966.hp1 others(1): Show HG02976.hp2 HG03710.hp2 NA18966.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0240 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0240 a0001c0001t0001g0243	4	288	0.0139	15	c.500 others(32): Show c.500+6290_500+6304dupTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45900195	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAGATT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02109.hp1 HG03041.hp1 others(2): Show HG00544.hp2 HG02109.hp1 HG03041.hp1 HG03195.hp1 NA18979.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0009 a0003c0003 others(1): Show a0002c0002 a0002c0009 a0003c0003 a0003c0017	a0002c0002t0001 a0002c0009t0001 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0009t0001 a0003c0003t0001 a0003c0017t0001	a0002c0002t0001g0043 a0002c0002t0001g0102 a0002c0009t0001g0122 others(2): Show a0002c0002t0001g0043 a0002c0002t0001g0102 a0002c0009t0001g0122 a0003c0003t0001g0099 a0003c0017t0001g0107	5	288	0.0174	15	c.500 others(34): Show c.500+17800_500+17801insAAAAAAAAAAAGATT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
MAST2_chr1_45798612_46041122	45921778	G G	GCTCTTCT others(8): Show GCTCTTCTCTCCTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01106.hp1 HG00140.hp2 HG00741.hp2 HG01106.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0209 a0007c0008t0001g0196 a0007c0008t0001g0211 a0001c0001t0001g0209 a0007c0008t0001g0196 a0007c0008t0001g0211	3	288	0.0104	15	c.501 others(34): Show c.501-37592_501-37578dupCTCTTCTCTCCTTCT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45930391	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01168.hp1 others(18): Show HG00735.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03490.hp2 NA18962.hp2 NA18970.hp2 NA19000.hp1 NA19009.hp1 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0009	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0008c0010 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0005c0005t0001 a0008c0010t0001 a0009c0012t0001	a0001c0001t0001g0144 a0001c0001t0001g0169 a0001c0001t0001g0181 others(18): Show a0001c0001t0001g0144 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0256 a0002c0002t0001g0078 a0002c0002t0001g0084 a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 a0004c0004t0001g0279 a0005c0005t0001g0278 a0008c0010t0001g0016 a0008c0010t0001g0167 a0008c0010t0001g0168 a0009c0012t0001g0238	21	288	0.0729	15	c.501 others(34): Show c.501-28971_501-28957dupTGTTTTGTTTTGTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18111530	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0065 a0001c0005t0006g0065	1	296	0.0034	15	c.161 others(30): Show c.161+797_161+811dupTTTTTTTTTTTTTTT	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST4_chr5_66591393_67174593	66635946	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0010 a0003c0023t0010	a0003c0023t0010g0100 a0003c0023t0010g0100	1	108	0.0093	15	c.363 others(34): Show c.363+38943_363+38957dupTTTTTTTTTTTTTTT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66685262	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0038 a0001c0002t0005g0038	1	108	0.0093	15	c.364 others(34): Show c.364-74417_364-74403dupAAAACAAAACAAAAC	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	66837895	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0045 a0001c0003t0029g0045	1	108	0.0093	15	c.642 others(34): Show c.642+49101_642+49102insATATATATATATATA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	3/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	67057610	G G	GAAAGAAA others(8): Show GAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02572.hp2 others(2): Show HG01099.hp2 HG02486.hp1 HG02572.hp2 HG03017.hp2 HG03041.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0004 a0001c0001t0008 a0001c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0005 a0001c0002t0024 a0004c0007t0004	a0001c0001t0004g0034 a0001c0001t0008g0079 a0001c0002t0005g0055 others(2): Show a0001c0001t0004g0034 a0001c0001t0008g0079 a0001c0002t0005g0055 a0001c0002t0024g0049 a0004c0007t0004g0066	5	108	0.0463	15	c.763 others(32): Show c.763+3125_763+3139dupAAGAAAAGAAAAGAA	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST4_chr5_66591393_67174593	67078914	A A	AAATAAAT others(8): Show AAATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0010 a0003c0023t0010	a0003c0023t0010g0100 a0003c0023t0010g0100	1	108	0.0093	15	c.764 others(34): Show c.764-11248_764-11247insAATAAATATATATAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28			chr5	TogoVar
MAST4_chr5_66591393_67174593	67078914	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0079 a0001c0001t0008g0079	1	108	0.0093	15	c.764 others(34): Show c.764-11248_764-11247insAATATATATATATAT	MAST4	ENSG00000069020.19	transcript	ENST00000403625.7	protein_coding	5/28			chr5	TogoVar
MAT2A_chr2_85534168_85550281	85549937	G G	GAACTCTG others(8): Show GAACTCTGAGTGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	15	c.61 others(26): Show c.6165_*6166insAACTCTGAGTGGACA	MAT2A	ENSG00000168906.13	transcript	ENST00000306434.8	protein_coding		4657		chr2	TogoVar
MATCAP2_chr7_36319152_36372240	36322118	T T	TTAAGATT others(8): Show TTAAGATTTGACTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	388	0.0026	15	c.46 others(26): Show c.4641_*4642insGGCAGTCAAATCTTA	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding		2033		chr7	TogoVar
MATCAP2_chr7_36319152_36372240	36337098	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp2 HG02735.hp2 others(11): Show HG01496.hp2 HG01981.hp2 HG02735.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp2 HG03669.hp1 NA18946.hp2 NA19002.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0082 others(11): Show a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0004g0075	14	388	0.0361	15	c.715 others(30): Show c.715-816_715-802dupTTTTTTTTTTTTTTT	MATCAP2	ENSG00000164542.13	transcript	ENST00000440378.6	protein_coding	2/6			chr7	TogoVar
MATK_chr19_3772973_3791381	3777367	T T	TGGGGCTC others(8): Show TGGGGCTCCCATCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	434	0.0023	15	c.81 others(24): Show c.815_*816insCATGATGGGAGCCCC	MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding		605		chr19	TogoVar
MATK_chr19_3772973_3791381	3788097	T T	TTTATATT others(8): Show TTTATATTATATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02056.hp1 HG02132.hp1 others(1): Show HG01884.hp1 HG02056.hp1 HG02132.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008	4	434	0.0092	15	c.-20 others(26): Show c.-2095_-2081dupTATAATATAATATAA	MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding		1717		chr19	TogoVar
MATN2_chr8_97864064_98041724	97893597	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0076 a0004c0005t0001g0076	1	318	0.0031	15	c.142 others(32): Show c.142+5355_142+5356insTTATTTATTTATTTA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18			chr8	TogoVar
MATN2_chr8_97864064_98041724	97916041	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1	a0002 a0015 a0002 a0015	a0002c0006 a0015c0082 a0002c0006 a0015c0082	a0002c0006t0001 a0015c0082t0003 a0002c0006t0001 a0015c0082t0003	a0002c0006t0001g0054 a0002c0006t0001g0055 a0015c0082t0003g0161 a0002c0006t0001g0054 a0002c0006t0001g0055 a0015c0082t0003g0161	3	318	0.0094	15	c.143 others(34): Show c.143-14882_143-14868dupATTTTATTTTATTTT	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97945717	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0310 a0001c0001t0004g0310	1	318	0.0031	15	c.835 others(32): Show c.835+3819_835+3820insAAATATATATATATA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97988171	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01192.hp2 others(2): Show HG00140.hp2 HG00642.hp1 HG01192.hp2 HG01255.hp2 HG03654.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0022 a0002c0007t0003g0162 a0002c0007t0003g0270 others(2): Show a0002c0007t0003g0022 a0002c0007t0003g0162 a0002c0007t0003g0270 a0002c0007t0003g0271 a0002c0007t0003g0295	5	318	0.0157	15	c.108 others(34): Show c.1082-6308_1082-6307insAAATATATATATATA	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(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG00735.hp1 others(2): Show HG00609.hp2 HG00673.hp1 HG00735.hp1 NA18949.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0002 a0001c0027t0002 a0001c0001t0002 a0001c0027t0002	a0001c0001t0002g0057 a0001c0001t0002g0199 a0001c0001t0002g0259 others(2): Show a0001c0001t0002g0057 a0001c0001t0002g0199 a0001c0001t0002g0259 a0001c0001t0002g0296 a0001c0027t0002g0004	5	318	0.0157	15	c.108 others(34): Show c.1082-1724_1082-1710dupAAAAAAAAAAAAAAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	97992958	T T	TAATAATA others(8): Show TAATAATAATAATAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02109.hp2 HG02257.hp2	a0006 a0006	a0006c0035 a0006c0035	a0006c0035t0002 a0006c0035t0002	a0006c0035t0002g0015 a0006c0035t0002g0016 a0006c0035t0002g0015 a0006c0035t0002g0016	2	318	0.0063	15	c.108 others(34): Show c.1082-1520_1082-1519insTAATAATAATAACAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN2_chr8_97864064_98041724	98000604	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(28): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG02280.hp1 HG02486.hp2 HG02886.hp1 HG02965.hp2 HG03225.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18988.hp2 NA19240.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0016 a0001c0065 a0002c0006 others(5): Show a0001c0016 a0001c0065 a0002c0006 a0002c0007 a0002c0011 a0002c0018 a0004c0055 a0007c0038	a0001c0016t0001 a0001c0065t0007 a0002c0006t0001 others(6): Show a0001c0016t0001 a0001c0065t0007 a0002c0006t0001 a0002c0007t0003 a0002c0011t0001 a0002c0011t0007 a0002c0018t0001 a0004c0055t0001 a0007c0038t0001	a0001c0016t0001g0275 a0001c0065t0007g0303 a0002c0006t0001g0002 others(28): Show a0001c0016t0001g0275 a0001c0065t0007g0303 a0002c0006t0001g0002 a0002c0006t0001g0054 a0002c0006t0001g0055 a0002c0006t0001g0056 a0002c0006t0001g0091 a0002c0006t0001g0165 a0002c0006t0001g0168 a0002c0006t0001g0169 a0002c0006t0001g0173 a0002c0006t0001g0185 a0002c0006t0001g0210 a0002c0006t0001g0241 a0002c0006t0001g0263 a0002c0006t0001g0266 a0002c0006t0001g0286 a0002c0007t0003g0158 a0002c0007t0003g0270 a0002c0007t0003g0271 a0002c0011t0001g0040 a0002c0011t0001g0047 a0002c0011t0001g0181 a0002c0011t0001g0279 a0002c0011t0001g0317 a0002c0011t0007g0302 a0002c0018t0001g0007 a0002c0018t0001g0048 a0002c0018t0001g0243 a0004c0055t0001g0211 a0007c0038t0001g0032	31	318	0.0975	15	c.120 others(34): Show c.1205-3051_1205-3050insAAAAAAAAGAAAAAA	MATN2	ENSG00000132561.14	transcript	ENST00000254898.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
MATN3_chr2_19987052_20017668	20010067	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG03139.hp1 HG02615.hp1 HG02723.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0241 a0001c0002t0002g0050 a0001c0002t0002g0241	3	432	0.0069	15	c.223 others(32): Show c.223+2327_223+2341dupTTTTTTTTTTTTTTT	MATN3	ENSG00000132031.13	transcript	ENST00000407540.8	protein_coding	1/7			chr2	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01257.hp2 others(18): Show HG00438.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG02280.hp2 HG02683.hp1 HG02818.hp2 HG03492.hp2 HG03927.hp1 HG04204.hp2 NA18947.hp2 NA18957.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18975.hp2 NA18986.hp2 NA19004.hp1 NA19085.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0012 a0001c0001 a0002c0003 a0002c0012	a0001c0001t0001 a0002c0003t0001 a0002c0003t0011 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0011 a0002c0012t0006	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(11): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0002c0003t0001g0017 a0002c0003t0001g0026 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0202 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0011g0279 a0002c0012t0006g0083	21	422	0.0498	15	c.-34 others(30): Show c.-34-204_-34-190dupAAAAAAAAAAAAAAA	MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9			chr20	TogoVar
MB21D2_chr3_192791815_192922856	192870699	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	298	0.0034	15	c.211 others(34): Show c.211+46916_211+46930dupTTTTTTTTTTTTTTT	MB21D2	ENSG00000180611.7	transcript	ENST00000392452.3	protein_coding	1/1			chr3	TogoVar
MBD2_chr18_54146606_54229669	54168612	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0279 a0002c0002t0014g0279	1	300	0.0033	15	c.841 others(32): Show c.841-2447_841-2446insTATATATATATATAT	MBD2	ENSG00000134046.12	transcript	ENST00000256429.8	protein_coding	3/6			chr18	TogoVar
MBD3L1_chr19_8827377_8848319	8838252	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG01069.hp1 others(14): Show HG00280.hp2 HG00323.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01257.hp2 HG01952.hp1 HG02148.hp2 HG02698.hp1 HG02735.hp2 HG02922.hp1 NA18612.hp1 NA18966.hp1 NA19009.hp1 NA19055.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0046 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0101 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151	17	428	0.0397	15	c.-10 others(34): Show c.-106-2646_-106-2632dupAAAAAAAAAAAAAAA	MBD3L1	ENSG00000170948.4	transcript	ENST00000595891.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062098	A A	ATATATAT others(8): Show ATATATATAATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	288	0.0035	15	c.-35 others(26): Show c.-3508_-3494dupATATAATTATATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3423		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062142	A A	ATAGATTA others(8): Show ATAGATTATAATCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01109.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0018	2	288	0.0069	15	c.-35 others(26): Show c.-3538_-3537insATAGATTATAATCTA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3467		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062436	T T	TAATTATA others(8): Show TAATTATATATAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	288	0.0035	15	c.-38 others(26): Show c.-3832_-3831insTTATTATATATAATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3761		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7062436	T T	TAATTATA others(8): Show TAATTATATATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 NA18988.hp2 HG01099.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	288	0.0069	15	c.-38 others(26): Show c.-3832_-3831insTTATAATATATAATT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3761		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035656	A A	ATTATATA others(8): Show ATTATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0007 a0001c0011t0002g0007	1	249	0.0040	15	c.27 others(26): Show c.2762_*2763insTTATATATATTATAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2646		chr19	TogoVar
MBD5_chr2_148016091_148521971	148074507	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03098.hp2 HG03486.hp1 HG01106.hp2 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0021 a0001c0005t0002 a0001c0001t0002 a0001c0001t0021 a0001c0005t0002	a0001c0001t0002g0156 a0001c0001t0021g0097 a0001c0005t0002g0002 a0001c0001t0002g0156 a0001c0001t0021g0097 a0001c0005t0002g0002	3	188	0.0160	15	c.-92 others(36): Show c.-925+52834_-925+52835insTTGTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148288399	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	188	0.0053	15	c.-67 others(36): Show c.-679-53814_-679-53800dupAAAAAAAAAAAAAAA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148296864	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18945.hp1 NA18946.hp2 others(1): Show HG03098.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0015	a0001c0001t0001g0040 a0001c0001t0002g0156 a0001c0001t0004g0065 others(1): Show a0001c0001t0001g0040 a0001c0001t0002g0156 a0001c0001t0004g0065 a0001c0002t0015g0056	4	188	0.0213	15	c.-67 others(36): Show c.-679-45344_-679-45330dupTTTTTTTTTTTTTTT	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD5_chr2_148016091_148521971	148330117	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0144 a0001c0004t0001g0144	1	188	0.0053	15	c.-67 others(36): Show c.-679-12096_-679-12095insACACACACACACACC	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBD6_chr12_57517824_57535148	57522759	A A	ACGGCGGC others(8): Show ACGGCGGCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	340	0.0029	15	c.-34 others(24): Show c.-341_-340insCGGCGGCGGCGGCGG	MBD6	ENSG00000166987.15	transcript	ENST00000355673.8	protein_coding		64		chr12	TogoVar
MBIP_chr14_36293564_36325637	36294279	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	312	0.0032	15	c.48 others(26): Show c.4803_*4804insTTTTTTTTTTTTTTT	MBIP	ENSG00000151332.20	transcript	ENST00000416007.9	protein_coding		4284		chr14	TogoVar
MBLAC2_chr5_90453209_90479771	90478566	G G	GTCCTTTT others(8): Show GTCCTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	378	0.0027	15	c.-42 others(26): Show c.-4275_-4274insAAAAAAAAAAAAGGA	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding		3796		chr5	TogoVar
MBLAC2_chr5_90453209_90479771	90478569	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00673.hp1 others(46): Show HG00323.hp2 HG00639.hp1 HG00673.hp1 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01496.hp1 HG01884.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02273.hp2 HG02300.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03490.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA18906.hp1 NA18939.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA19002.hp2 NA19009.hp1 NA19054.hp2 NA19068.hp1 NA19240.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0002t0002 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0006g0020 a0001c0001t0007g0044 a0001c0001t0014g0149 a0001c0001t0018g0064 a0001c0001t0019g0102 a0001c0001t0022g0058 a0001c0002t0002g0010 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0003t0003g0041 a0001c0003t0003g0133	49	378	0.1296	15	c.-42 others(26): Show c.-4292_-4278dupAAAAAAAAAAAAAAA	MBLAC2	ENSG00000176055.10	transcript	ENST00000316610.7	protein_coding		3799		chr5	TogoVar
MBNL1_chr3_152263929_152470780	152325087	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01258.hp2 HG01978.hp2 others(8): Show HG00673.hp2 HG01258.hp2 HG01978.hp2 HG02965.hp1 HG02976.hp1 HG03927.hp1 HG04115.hp2 NA18947.hp1 NA18977.hp2 NA18979.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0001g0148 a0001c0001t0001g0227 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0148 a0001c0001t0001g0227 a0001c0001t0001g0291 a0001c0001t0001g0318 a0001c0001t0002g0110 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0264 a0001c0001t0002g0299 a0001c0001t0009g0279	11	338	0.0325	15	c.174 others(34): Show c.174+24729_174+24730insCCCCCCCCCCCCCCC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL1_chr3_152263929_152470780	152325093	C C	CCCCCCCC others(8): Show CCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	338	0.0030	15	c.174 others(34): Show c.174+24729_174+24730insCCCCCCCCCCCGCCC	MBNL1	ENSG00000152601.18	transcript	ENST00000324210.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
MBNL2_chr13_97217333_97399120	97291900	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01361.hp2 HG02300.hp1 others(3): Show HG00140.hp2 HG01361.hp2 HG02300.hp1 HG02896.hp1 HG02922.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0002c0005t0001	a0001c0001t0001g0198 a0001c0001t0001g0241 a0001c0001t0001g0242 others(3): Show a0001c0001t0001g0198 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0005g0252 a0001c0003t0001g0244 a0002c0005t0001g0171	6	254	0.0236	15	c.174 others(34): Show c.174+15494_174+15508dupAAAAAAAAAAAAAAA	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(8): Show TTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01943.hp1 others(14): Show HG01243.hp1 HG01884.hp1 HG01943.hp1 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0130 others(14): Show a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0130 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0007g0114 a0001c0001t0012g0227 a0001c0001t0014g0234 a0001c0001t0015g0216	17	254	0.0669	15	c.104 others(34): Show c.1048+3254_1048+3268dupAAATAAAATAAAATA	MBNL2	ENSG00000139793.21	transcript	ENST00000679496.1	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
MBNL3_chrX_132364320_132494038	132483547	T T	TACAAAAC others(8): Show TACAAAACAAAAGGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp1 HG03453.hp2 others(1): Show HG02145.hp1 HG02486.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0034 a0001c0001t0010 a0001c0001t0034	a0001c0001t0010g0108 a0001c0001t0010g0109 a0001c0001t0010g0110 others(1): Show a0001c0001t0010g0108 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0034g0111	4	191	0.0209	15	c.-70 others(34): Show c.-704+5289_-704+5303dupCACCTTTTGTTTTGT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	1/8			chrX	TogoVar

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