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
MTURN_chr7_30129986_30167762	30140415	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	426	0.0024	22	c.162 others(39): Show c.162+5118_162+5119insGTGTGTATATATATATATATAT	MTURN	ENSG00000180354.16	transcript	ENST00000324453.13	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
MTUS1_chr8_17638802_17806094	17658024	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	330	0.0030	22	c.290 others(41): Show c.2906-1981_2906-1960dupGTGTGTGTGTGTGTGTGTGTGT	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	8/14			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29031237	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01496.hp1 HG02055.hp2 others(3): Show HG00621.hp2 HG01496.hp1 HG02055.hp2 HG03017.hp2 NA18944.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0024	a0001c0001t0001g0047 a0001c0001t0002g0048 a0001c0001t0002g0077 others(3): Show a0001c0001t0001g0047 a0001c0001t0002g0048 a0001c0001t0002g0077 a0002c0002t0002g0057 a0002c0002t0003g0066 a0002c0002t0024g0059	6	92	0.0652	22	c.220 others(41): Show c.2206-2636_2206-2615dupTGTGTGTGTGTGTGTGTGTGTG	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29071409	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18983.hp1 HG03516.hp1 NA18983.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0004 a0001c0001 a0007c0004	a0001c0001t0005 a0007c0004t0002 a0001c0001t0005 a0007c0004t0002	a0001c0001t0005g0031 a0007c0004t0002g0013 a0001c0001t0005g0031 a0007c0004t0002g0013	2	92	0.0217	22	c.244 others(43): Show c.2447-29351_2447-29330dupTTTTTTTTTTTTTTTTTTTTTT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29168888	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04228.hp1 HG03209.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0005 a0001c0012t0010 a0001c0001t0005 a0001c0012t0010	a0001c0001t0005g0021 a0001c0012t0010g0068 a0001c0001t0005g0021 a0001c0012t0010g0068	2	92	0.0217	22	c.264 others(43): Show c.2644+67927_2644+67948dupTGTGTGTGTGTGTGTGTGTGTG	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29350960	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02717.hp2 HG03098.hp1 others(3): Show HG01346.hp1 HG02717.hp2 HG03098.hp1 HG03209.hp1 NA19030.hp2 NA19043.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0010 a0001c0012 others(1): Show a0001c0001 a0001c0010 a0001c0012 a0007c0004	a0001c0001t0001 a0001c0001t0013 a0001c0001t0033 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0033 a0001c0010t0006 a0001c0012t0010 a0007c0004t0006	a0001c0001t0001g0054 a0001c0001t0013g0073 a0001c0001t0033g0087 others(3): Show a0001c0001t0001g0054 a0001c0001t0013g0073 a0001c0001t0033g0087 a0001c0010t0006g0004 a0001c0012t0010g0068 a0007c0004t0006g0042	6	92	0.0652	22	c.290 others(41): Show c.2906-8299_2906-8278dupATATATATATATATATATATAT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29365510	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01175.hp2 others(8): Show HG00621.hp2 HG00735.hp1 HG01175.hp2 HG01978.hp1 HG02717.hp2 HG03041.hp2 HG03225.hp1 HG03490.hp1 NA18983.hp2 NA18988.hp2 NA19084.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0008 a0004c0016 others(1): Show a0001c0001 a0004c0008 a0004c0016 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0017 a0004c0008t0009 a0004c0016t0012 a0006c0007t0002	a0001c0001t0001g0085 a0001c0001t0002g0077 a0001c0001t0002g0078 others(8): Show a0001c0001t0001g0085 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0013g0073 a0001c0001t0017g0025 a0004c0008t0009g0072 a0004c0016t0012g0076 a0006c0007t0002g0060	11	92	0.1196	22	c.311 others(41): Show c.3117+6056_3117+6057insGTGTGTGTGTGTGTGTGTGTGT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29383242	G G	GTATATAT others(15): Show GTATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0003 a0002c0002t0012g0003	1	92	0.0109	22	c.311 others(43): Show c.3117+23770_3117+23771insATATATATATATATATATTTAT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29383244	G G	GTATATAT others(15): Show GTATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG03540.hp2 others(1): Show HG02145.hp2 HG03195.hp1 HG03540.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021	a0001c0001t0007g0020 a0001c0001t0010g0090 a0001c0001t0011g0010 others(1): Show a0001c0001t0007g0020 a0001c0001t0010g0090 a0001c0001t0011g0010 a0001c0001t0021g0016	4	92	0.0435	22	c.311 others(43): Show c.3117+23772_3117+23773insATATATATATATATATTTATTT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC13_chr3_124900442_124939751	124909485	C C	CATGTGTG others(15): Show CATGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0319 a0003c0003t0002g0319	1	452	0.0022	22	c.133 others(39): Show c.1337+929_1337+930insACACACACACACACACACACAT	MUC13	ENSG00000173702.7	transcript	ENST00000616727.4	protein_coding	10/11			chr3	TogoVar
MUC20_chr3_195715978_195738551	195738099	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02615.hp2 HG01978.hp1 HG02615.hp2	a0008 a0032 a0008 a0032	a0008c0009 a0032c0068 a0008c0009 a0032c0068	a0008c0009t0002 a0032c0068t0002 a0008c0009t0002 a0032c0068t0002	a0008c0009t0002g0050 a0032c0068t0002g0054 a0008c0009t0002g0050 a0032c0068t0002g0054	2	185	0.0108	22	c.48 others(33): Show c.4881_*4882insTGTGTGTGTGTGTGTGTGTGTG	MUC20	ENSG00000176945.18	transcript	ENST00000447234.7	protein_coding		4549		chr3	TogoVar
MUC4_chr3_195741771_195816929	195762589	C C	CACGCACC others(15): Show CACGCACCGGGCCCTGCACCGCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp2 HG03209.hp1 HG02486.hp2 HG02723.hp2 HG03209.hp1	a0080 a0092 a0103 a0080 a0092 a0103	a0080c0149 a0092c0150 a0103c0152 a0080c0149 a0092c0150 a0103c0152	a0080c0149t0006 a0092c0150t0007 a0103c0152t0014 a0080c0149t0006 a0092c0150t0007 a0103c0152t0014	a0080c0149t0006g0079 a0092c0150t0007g0189 a0103c0152t0014g0185 a0080c0149t0006g0079 a0092c0150t0007g0189 a0103c0152t0014g0185	3	249	0.0121	22	c.143 others(41): Show c.14344+265_14344+266insTGCGGTGCAGGGCCCGGTGCGT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195762618	C C	CGGGCCCG others(15): Show CGGGCCCGGCACCACAACGCACT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0151 a0151	a0151c0169 a0151c0169	a0151c0169t0013 a0151c0169t0013	a0151c0169t0013g0184 a0151c0169t0013g0184	1	249	0.0040	22	c.143 others(41): Show c.14344+236_14344+237insAGTGCGTTGTGGTGCCGGGCCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195762770	G G	GCCCGGCC others(15): Show GCCCGGCCCTGCACCACAACGCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0180 a0001c0016t0002g0181 a0001c0016t0002g0180 a0001c0016t0002g0181	2	249	0.0080	22	c.143 others(39): Show c.14344+84_14344+85insTGCGTTGTGGTGCAGGGCCGGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	13/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110676360	A A	ATATTATA others(15): Show ATATTATATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01516.hp2 others(30): Show HG00544.hp1 HG00609.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp1 HG02129.hp1 HG02135.hp1 HG02698.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18959.hp1 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18989.hp2 NA18990.hp1 NA19010.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0002 a0002c0012 a0003c0003 others(2): Show a0001c0002 a0002c0012 a0003c0003 a0005c0005 a0006c0009	a0001c0002t0001 a0001c0002t0008 a0002c0012t0005 others(10): Show a0001c0002t0001 a0001c0002t0008 a0002c0012t0005 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0014 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0008 a0006c0009t0007	a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0008g0075 others(29): Show a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0008g0075 a0001c0002t0008g0114 a0002c0012t0005g0073 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0183 a0003c0003t0002g0084 a0003c0003t0003g0001 a0003c0003t0004g0077 a0003c0003t0004g0083 a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0090 a0003c0003t0004g0182 a0003c0003t0004g0298 a0003c0003t0004g0299 a0003c0003t0014g0078 a0005c0005t0001g0088 a0005c0005t0002g0070 a0005c0005t0002g0071 a0005c0005t0002g0072 a0005c0005t0002g0115 a0005c0005t0003g0068 a0005c0005t0008g0184 a0006c0009t0007g0019 a0006c0009t0007g0067 a0006c0009t0007g0069	33	326	0.1012	22	c.80- others(37): Show c.80-6304_80-6303insTATATATTATATTATTATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATATTTTA others(15): Show ATATTTTATTTTATTTATTGTAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0179 a0002c0004t0011g0179	1	326	0.0031	22	c.628 others(39): Show c.628+4187_628+4188insATTTTATTTTATTTATTGTATT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATATTTTA others(15): Show ATATTTTATTTTTTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0138 a0002c0004t0013g0138	1	326	0.0031	22	c.628 others(39): Show c.628+4187_628+4188insATTTTATTTTTTTTATTTTATT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATTATTTT others(15): Show ATTATTTTTTTTATTTATTTTAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	326	0.0031	22	c.628 others(39): Show c.628+4188_628+4189insATTTTTTTTATTTATTTTATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110755951	C C	CGTATATA others(15): Show CGTATATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	326	0.0031	22	c.914 others(39): Show c.914-6251_914-6250insGTATATATATACATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	7/14			chr9	TogoVar
MUSK_chr9_110663791_110811558	110755951	C C	CGTATATA others(15): Show CGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0137 a0002c0004t0011g0137	1	326	0.0031	22	c.914 others(39): Show c.914-6251_914-6250insGTATATATATATATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	7/14			chr9	TogoVar
MUSK_chr9_110663791_110811558	110755981	T T	TATATATA others(15): Show TATATATATACATATATATATAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0117 a0005c0005t0008g0117	1	326	0.0031	22	c.914 others(39): Show c.914-6212_914-6211insCATATATATATACATATATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSTN1_chr3_52828121_52840019	52829341	C C	CTCTTCAA others(15): Show CTCTTCAAGAGTTGGCCCTGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	388	0.0026	22	c.39 others(33): Show c.3961_*3982dupAGTCAGGGCCAACTCTTGAAGA	MUSTN1	ENSG00000272573.6	transcript	ENST00000446157.3	protein_coding		3779		chr3	TogoVar
MVB12B_chr9_126321829_126512040	126336754	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0022 a0001c0001t0016g0022	1	318	0.0031	22	c.82- others(37): Show c.82-3748_82-3727dupACACACACACACACACACACAC	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVB12B_chr9_126321829_126512040	126407278	T T	TGCTGGGA others(15): Show TGCTGGGAGACACGTCAGGGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0082 a0001c0001t0054g0082	1	318	0.0031	22	c.662 others(41): Show c.662+11583_662+11604dupCTGGGAGACACGTCAGGGAGAG	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVD_chr16_88646940_88668091	88663685	T T	TGGGGCGC others(15): Show TGGGGCGCTGTGCGGGTGCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	434	0.0023	22	c.-60 others(31): Show c.-606_-605insCACGGCACCCGCACAGCGCCCC	MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding		595		chr16	TogoVar
MVD_chr16_88646940_88668091	88663706	T T	TGGGGCGC others(15): Show TGGGGCGCTGTGCGGGTGCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	22	c.-62 others(31): Show c.-627_-626insCACGGCACCCGCACAGCGCCCC	MVD	ENSG00000167508.12	transcript	ENST00000301012.8	protein_coding		616		chr16	TogoVar
MVK_chr12_109568794_109603125	109593512	G G	GTCGGGTA others(15): Show GTCGGGTAGACAGGAGCTTCATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp1 HG01358.hp1 others(2): Show HG00140.hp2 HG01346.hp1 HG01358.hp1 HG02683.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	5	382	0.0131	22	c.886 others(39): Show c.886-1514_886-1513insGGGTAGACAGGAGCTTCATATC	MVK	ENSG00000110921.14	transcript	ENST00000228510.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MVK_chr12_109568794_109603125	109600672	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01168.hp2 others(16): Show HG00140.hp1 HG01123.hp2 HG01168.hp2 HG01358.hp1 HG01943.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp2 HG02886.hp1 HG03041.hp2 HG03130.hp2 HG03516.hp1 HG03927.hp2 HG04184.hp1 NA18522.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0001 a0001c0002t0002 a0004c0010t0002 a0001c0001t0001 a0001c0002t0002 a0004c0010t0002	a0001c0001t0001g0012 a0001c0002t0002g0002 a0001c0002t0002g0011 others(7): Show a0001c0001t0001g0012 a0001c0002t0002g0002 a0001c0002t0002g0011 a0001c0002t0002g0036 a0001c0002t0002g0075 a0001c0002t0002g0078 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0086 a0004c0010t0002g0011	19	382	0.0497	22	c.40 others(33): Show c.4095_*4096insTGTGTGTGTGTGTGTGTGTGTG	MVK	ENSG00000110921.14	transcript	ENST00000228510.8	protein_coding		2548		chr12	TogoVar
MVK_chr12_109568794_109603125	109600916	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01346.hp1 HG01358.hp1 others(1): Show HG00140.hp2 HG01346.hp1 HG01358.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	4	382	0.0105	22	c.43 others(33): Show c.4339_*4340insACACACACACACACACACACAC	MVK	ENSG00000110921.14	transcript	ENST00000228510.8	protein_coding		2792		chr12	TogoVar
MXI1_chr10_110202605_110292365	110216665	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02615.hp2 others(9): Show HG01109.hp2 HG01891.hp1 HG02615.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 NA18972.hp1 NA19030.hp2 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0006 a0001c0003t0002 a0001c0001t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0002g0008 a0001c0001t0002g0201 a0001c0001t0002g0202 others(9): Show a0001c0001t0002g0008 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0345 a0001c0001t0006g0210 a0001c0001t0006g0280 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0003t0002g0354	12	372	0.0323	22	c.274 others(39): Show c.274+8603_274+8604insTTTTTTTTTTTTTTTTTTTTTT	MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
MXRA5_chrX_3303565_3351652	3306895	A A	ATCTATCT others(15): Show ATCTATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0002 a0014c0016t0002	a0014c0016t0002g0146 a0014c0016t0002g0146	1	284	0.0035	22	c.28 others(33): Show c.2820_*2821insGATAGATAGATAGATAGATAGA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding		1669		chrX	TogoVar
MXRA5_chrX_3303565_3351652	3325847	A A	AATATATA others(15): Show AATATATAATAATATATTTATTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA20300.hp2 HG02630.hp1 NA20300.hp2	a0002 a0022 a0002 a0022	a0002c0026 a0022c0036 a0002c0026 a0022c0036	a0002c0026t0001 a0022c0036t0007 a0002c0026t0001 a0022c0036t0007	a0002c0026t0001g0157 a0022c0036t0007g0158 a0002c0026t0001g0157 a0022c0036t0007g0158	2	284	0.0070	22	c.710 others(37): Show c.710-873_710-872insGAATAAATATATTATTATATAT	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3341607	A A	ATATATAT others(15): Show ATATATATAATATATATTATTAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01256.hp1 others(18): Show HG01070.hp1 HG01071.hp2 HG01256.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02109.hp1 HG02273.hp2 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp2 HG03704.hp2 NA18906.hp2 NA18957.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0010 a0020 a0024 a0034	a0001c0001 a0005c0005 a0006c0008 others(4): Show a0001c0001 a0005c0005 a0006c0008 a0010c0009 a0020c0037 a0024c0032 a0034c0017	a0001c0001t0001 a0005c0005t0002 a0006c0008t0003 others(5): Show a0001c0001t0001 a0005c0005t0002 a0006c0008t0003 a0010c0009t0002 a0010c0009t0007 a0020c0037t0001 a0024c0032t0006 a0034c0017t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(18): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0267 a0005c0005t0002g0163 a0005c0005t0002g0180 a0005c0005t0002g0181 a0006c0008t0003g0159 a0006c0008t0003g0160 a0010c0009t0002g0161 a0010c0009t0007g0162 a0020c0037t0001g0164 a0024c0032t0006g0240 a0034c0017t0001g0242	21	284	0.0739	22	c.188 others(39): Show c.188+2038_188+2039insATAATAATATATATTATATATA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3350669	A A	AATATATA others(15): Show AATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0147 a0008c0021t0001g0147	1	284	0.0035	22	c.-41 others(33): Show c.-4184_-4183insATATATATATATATATATATAT	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding		4018		chrX	TogoVar
MYADM_chr19_53862883_53881435	53869048	G G	GGGGGCAG others(15): Show GGGGGCAGGCAGTGTCTGGCTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	378	0.0027	22	c.-87 others(37): Show c.-87-702_-87-681dupGCAGGCAGTGTCTGGCTCCGGG	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYADM_chr19_53862883_53881435	53881070	C C	CAGAGACA others(15): Show CAGAGACAGAGACAGAGAAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp2 HG03704.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0001 a0001c0001t0001g0051	2	378	0.0053	22	c.65 others(33): Show c.6572_*6573insAGAGACAGAGACAGAGAAGAGA	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding		4636		chr19	TogoVar
MYBBP1A_chr17_4533904_4560384	4544673	C C	CACGGGGG others(15): Show CACGGGGGTGGGCGCACAGGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03942.hp2 HG01346.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0182 a0001c0001t0001g0183	2	474	0.0042	22	c.248 others(37): Show c.2482-49_2482-28dupCTCCCTGTGCGCCCACCCCCGT	MYBBP1A	ENSG00000132382.15	transcript	ENST00000254718.9	protein_coding	18/25			chr17	TogoVar
MYBBP1A_chr17_4533904_4560384	4544674	A A	ACGGGGGT others(15): Show ACGGGGGTGGGCGCACAGGGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02004.hp1 HG02055.hp1 others(12): Show HG01167.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03540.hp1 NA19089.hp1	a0001 a0002 a0012 others(5): Show a0001 a0002 a0012 a0015 a0023 a0029 a0036 a0045	a0001c0001 a0001c0016 a0001c0060 others(8): Show a0001c0001 a0001c0016 a0001c0060 a0001c0076 a0002c0093 a0012c0019 a0015c0074 a0023c0083 a0029c0066 a0036c0067 a0045c0069	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0001c0060t0002 a0001c0076t0018 a0002c0093t0002 a0012c0019t0002 a0015c0074t0001 a0023c0083t0004 a0029c0066t0001 a0036c0067t0001 a0045c0069t0001	a0001c0001t0001g0146 a0001c0001t0002g0116 a0001c0016t0001g0103 others(12): Show a0001c0001t0001g0146 a0001c0001t0002g0116 a0001c0016t0001g0103 a0001c0016t0001g0104 a0001c0016t0001g0105 a0001c0016t0001g0106 a0001c0060t0002g0277 a0001c0076t0018g0072 a0002c0093t0002g0353 a0012c0019t0002g0079 a0015c0074t0001g0082 a0023c0083t0004g0062 a0029c0066t0001g0094 a0036c0067t0001g0100 a0045c0069t0001g0210	15	474	0.0317	22	c.248 others(37): Show c.2482-50_2482-29dupCCTCCCTGTGCGCCCACCCCCG	MYBBP1A	ENSG00000132382.15	transcript	ENST00000254718.9	protein_coding	18/25			chr17	TogoVar
MYBBP1A_chr17_4533904_4560384	4544686	G G	GCACAGGG others(15): Show GCACAGGGAGGCGGGGGTGGGCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0002 a0012c0019t0002	a0012c0019t0002g0304 a0012c0019t0002g0304	1	474	0.0021	22	c.248 others(37): Show c.2482-41_2482-40insTGCCCACCCCCGCCTCCCTGTG	MYBBP1A	ENSG00000132382.15	transcript	ENST00000254718.9	protein_coding	18/25			chr17	TogoVar
MYBPC1_chr12_101589971_101691028	101591773	T T	TTCTTCTT others(15): Show TTCTTCTTCTTTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0231 a0001c0004t0005g0231	1	360	0.0028	22	c.-32 others(33): Show c.-3298_-3297insTCTTCTTCTTTTCTTCTTCTTC	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3197		chr12	TogoVar
MYBPC1_chr12_101589971_101691028	101591845	T T	TTCTCCTT others(15): Show TTCTCCTTCTCCTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	360	0.0028	22	c.-32 others(33): Show c.-3226_-3225insTCTCCTTCTCCTTCTCTCTCTC	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3125		chr12	TogoVar
MYBPC1_chr12_101589971_101691028	101674862	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02258.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0015 a0001c0004t0005g0167 a0001c0004t0005g0015 a0001c0004t0005g0167	2	360	0.0056	22	c.281 others(39): Show c.2810-429_2810-408dupAAAAAAAAAAAAAAAAAAAAAA	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYBPC3_chr11_47326406_47357702	47348908	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(14): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG01070.hp1 HG01081.hp2 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG02004.hp1 HG02738.hp1 HG03654.hp2 HG03834.hp2 HG04228.hp2 NA18522.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0002c0008 a0008c0030	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0002c0005t0001 a0002c0008t0001 a0008c0030t0001	a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0003g0055 others(8): Show a0001c0001t0001g0072 a0001c0001t0001g0101 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0128 a0001c0002t0001g0015 a0002c0005t0001g0012 a0002c0005t0001g0102 a0002c0005t0001g0103 a0002c0008t0001g0014 a0008c0030t0001g0291	17	374	0.0455	22	c.655 others(37): Show c.655-368_655-367insTATATATATATATATATATATA	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding	5/34			chr11	TogoVar
MYB_chr6_135176308_135224172	135181107	C C	CGCGGCGC others(15): Show CGCGGCGCGCTAGGCGCACCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0198 a0005c0008t0002g0198	1	400	0.0025	22	c.-40 others(31): Show c.-407_-406insGCGGCGCGCTAGGCGCACCGCG	MYB	ENSG00000118513.21	transcript	ENST00000341911.10	protein_coding		200		chr6	TogoVar
MYCBP2_chr13_77039657_77332094	77294125	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0127 a0001c0009t0001g0127	1	334	0.0030	22	c.378 others(39): Show c.378+2473_378+2474insGTATATATATATATATATATAT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77294129	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0303 a0001c0004t0001g0303	1	334	0.0030	22	c.378 others(39): Show c.378+2469_378+2470insGTATATATATATATATATATAT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01978.hp2 HG01952.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0254 a0001c0001t0001g0222 a0001c0001t0001g0254	2	376	0.0053	22	c.125 others(39): Show c.1258-229_1258-228insAAAAAAAAAAAAAAAATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02683.hp1 HG02572.hp2 HG02683.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0013 a0001c0001 a0012c0013	a0001c0001t0001 a0012c0013t0001 a0001c0001t0001 a0012c0013t0001	a0001c0001t0001g0231 a0012c0013t0001g0046 a0001c0001t0001g0231 a0012c0013t0001g0046	2	376	0.0053	22	c.125 others(39): Show c.1258-229_1258-228insAAAAAAAAAAAAAATATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0180 a0002c0004t0001g0180	1	376	0.0027	22	c.125 others(39): Show c.1258-229_1258-228insAAAAAAAAAAAATATATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	376	0.0027	22	c.125 others(39): Show c.1258-229_1258-228insAAAAAAAAAATATATATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar

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