Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYO7B_chr2_127530683_127642726	127571442	G G	GTTTTTTT others(11): Show GTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01256.hp2 others(2): Show HG01069.hp1 HG01071.hp1 HG01256.hp2 HG01346.hp1 HG01884.hp1	a0001 a0005 a0013 others(1): Show a0001 a0005 a0013 a0015	a0001c0010 a0005c0008 a0013c0022 others(1): Show a0001c0010 a0005c0008 a0013c0022 a0015c0066	a0001c0010t0001 a0005c0008t0001 a0013c0022t0001 others(1): Show a0001c0010t0001 a0005c0008t0001 a0013c0022t0001 a0015c0066t0001	a0001c0010t0001g0159 a0005c0008t0001g0213 a0013c0022t0001g0115 others(2): Show a0001c0010t0001g0159 a0005c0008t0001g0213 a0013c0022t0001g0115 a0013c0022t0001g0212 a0015c0066t0001g0064	5	282	0.0177	18	c.592 others(35): Show c.592+1542_592+1543insGTTTTTTTTTTTTTTTTT	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7B_chr2_127530683_127642726	127571442	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG01123.hp1 others(14): Show HG00099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01361.hp2 HG01952.hp1 HG02300.hp2 HG02698.hp2 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18949.hp1 NA18959.hp1 NA18968.hp1 NA19063.hp1 NA19063.hp2	a0001 a0002 a0016 others(1): Show a0001 a0002 a0016 a0017	a0001c0002 a0001c0004 a0002c0001 others(3): Show a0001c0002 a0001c0004 a0002c0001 a0002c0011 a0016c0019 a0017c0040	a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0004t0001 a0002c0001t0001 a0002c0001t0006 a0002c0011t0002 a0016c0019t0001 a0017c0040t0001	a0001c0002t0001g0050 a0001c0004t0001g0118 a0001c0004t0001g0199 others(13): Show a0001c0002t0001g0050 a0001c0004t0001g0118 a0001c0004t0001g0199 a0001c0004t0001g0225 a0002c0001t0001g0003 a0002c0001t0001g0108 a0002c0001t0001g0113 a0002c0001t0001g0179 a0002c0001t0001g0181 a0002c0001t0001g0184 a0002c0001t0001g0189 a0002c0001t0006g0180 a0002c0011t0002g0210 a0016c0019t0001g0176 a0016c0019t0001g0177 a0017c0040t0001g0190	17	282	0.0603	18	c.592 others(35): Show c.592+1549_592+1550insTTTTTTTTTTTTTTTTTT	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7B_chr2_127530683_127642726	127619038	G G	GGTGGGCG others(11): Show GGTGGGCGCTGGTTGGATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG03225.hp2 others(1): Show HG02630.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp1	a0010 a0023 a0010 a0023	a0010c0016 a0023c0048 a0010c0016 a0023c0048	a0010c0016t0001 a0023c0048t0001 a0010c0016t0001 a0023c0048t0001	a0010c0016t0001g0005 a0010c0016t0001g0138 a0023c0048t0001g0129 a0010c0016t0001g0005 a0010c0016t0001g0138 a0023c0048t0001g0129	4	282	0.0142	18	c.339 others(37): Show c.3399-1296_3399-1279dupCGCTGGTTGGATTGTGGG	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7B_chr2_127530683_127642726	127619054	A A	ATTGTGGG others(11): Show ATTGTGGGGGCTGGTTGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01346.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG01346.hp1 HG01884.hp1 HG03453.hp1	a0001 a0013 a0015 a0001 a0013 a0015	a0001c0010 a0013c0022 a0015c0066 others(1): Show a0001c0010 a0013c0022 a0015c0066 a0015c0071	a0001c0010t0001 a0013c0022t0001 a0015c0066t0001 others(1): Show a0001c0010t0001 a0013c0022t0001 a0015c0066t0001 a0015c0071t0001	a0001c0010t0001g0159 a0013c0022t0001g0115 a0013c0022t0001g0212 others(2): Show a0001c0010t0001g0159 a0013c0022t0001g0115 a0013c0022t0001g0212 a0015c0066t0001g0064 a0015c0071t0001g0127	5	282	0.0177	18	c.339 others(37): Show c.3399-1250_3399-1233dupGTTGTGGGGGCTGGTTGG	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO9A_chr15_71817291_72123150	71860969	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	308	0.0033	18	c.609 others(37): Show c.6092-1191_6092-1174dupTTTTTTTTTTTTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	33/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71867798	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	308	0.0033	18	c.598 others(37): Show c.5980-5205_5980-5188dupTGTGTGTGTGTGTGTGTG	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	32/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp1 HG02055.hp2 HG03098.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0022 a0007c0008t0001 a0007c0008t0022	a0007c0008t0001g0209 a0007c0008t0022g0112 a0007c0008t0001g0209 a0007c0008t0022g0112	2	308	0.0065	18	c.268 others(37): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71910168	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01070.hp1 others(19): Show HG00140.hp1 HG00735.hp1 HG01070.hp1 HG01081.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp2 HG02970.hp1 HG03225.hp2 NA18522.hp2 NA20300.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0007 a0001c0002 a0006c0007	a0001c0002t0004 a0001c0002t0016 a0001c0002t0025 others(7): Show a0001c0002t0004 a0001c0002t0016 a0001c0002t0025 a0001c0002t0038 a0001c0002t0045 a0001c0002t0048 a0001c0002t0056 a0006c0007t0017 a0006c0007t0040 a0006c0007t0046	a0001c0002t0004g0069 a0001c0002t0004g0073 a0001c0002t0004g0074 others(19): Show a0001c0002t0004g0069 a0001c0002t0004g0073 a0001c0002t0004g0074 a0001c0002t0004g0077 a0001c0002t0004g0080 a0001c0002t0004g0082 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0016g0072 a0001c0002t0016g0081 a0001c0002t0025g0001 a0001c0002t0038g0086 a0001c0002t0045g0090 a0001c0002t0048g0084 a0001c0002t0056g0287 a0006c0007t0017g0101 a0006c0007t0017g0102 a0006c0007t0040g0088 a0006c0007t0046g0089	22	308	0.0714	18	c.268 others(37): Show c.2686-5163_2686-5162insTATATATATATATATACA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928027	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0175 a0001c0001t0020g0175	1	308	0.0033	18	c.256 others(37): Show c.2562+5625_2562+5642dupATATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	308	0.0033	18	c.256 others(37): Show c.2562+5613_2562+5614insAAAAAATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0132 a0009c0010t0001g0132	1	308	0.0033	18	c.256 others(37): Show c.2562+5613_2562+5614insAAAAAAAATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956350	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0051 a0008c0009t0051	a0008c0009t0051g0263 a0008c0009t0051g0263	1	308	0.0033	18	c.218 others(37): Show c.2182+3550_2182+3551insTTATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71966265	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02622.hp1 HG02895.hp1 others(2): Show HG01257.hp2 HG02622.hp1 HG02895.hp1 HG03516.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0024 a0001c0001 a0001c0002 a0001c0024	a0001c0001t0001 a0001c0001t0020 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0020 a0001c0002t0004 a0001c0024t0001	a0001c0001t0001g0137 a0001c0001t0001g0231 a0001c0001t0020g0145 others(2): Show a0001c0001t0001g0137 a0001c0001t0001g0231 a0001c0001t0020g0145 a0001c0002t0004g0091 a0001c0024t0001g0130	5	308	0.0162	18	c.198 others(37): Show c.1986+1701_1986+1718dupACACACACACACACACAC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	13/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71981641	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18946.hp2 HG01192.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0007 a0001c0011t0007 a0001c0002t0007 a0001c0011t0007	a0001c0002t0007g0010 a0001c0011t0007g0013 a0001c0002t0007g0010 a0001c0011t0007g0013	2	308	0.0065	18	c.172 others(37): Show c.1723-3367_1723-3350dupGAGAGAGAGAGAGAGAGA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	11/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	72028214	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0070 a0001c0002t0044g0070	1	308	0.0033	18	c.936 others(33): Show c.936-422_936-421insATATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	3/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	72103459	A A	AAGAAGCA others(11): Show AAGAAGCAGCAGCAGAAGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02004.hp1 HG01192.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0222 a0001c0001t0001g0223	2	308	0.0065	18	c.-72 others(37): Show c.-72+14203_-72+14220dupGCTTCTGCTGCTGCTTCT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	1/41			chr15	TogoVar
MYO9B_chr19_17070777_17218286	17090118	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0002 a0002c0070t0002	a0002c0070t0002g0066 a0002c0070t0002g0066	1	262	0.0038	18	c.-58 others(37): Show c.-58-11516_-58-11499dupTTTTTTTTTTTTTTTTTT	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOCD_chr17_12660890_12773949	12660968	C C	CGTGCGTG others(11): Show CGTGCGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01978.hp1 others(9): Show HG00673.hp1 HG00733.hp1 HG01978.hp1 HG01993.hp1 HG02293.hp1 NA18747.hp2 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA19005.hp2 NA19060.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0001t0024 a0001c0001t0033 a0001c0001t0147 a0001c0002t0002 a0001c0004t0002 a0001c0004t0031	a0001c0001t0002g0242 a0001c0001t0004g0277 a0001c0001t0006g0118 others(9): Show a0001c0001t0002g0242 a0001c0001t0004g0277 a0001c0001t0006g0118 a0001c0001t0006g0250 a0001c0001t0020g0148 a0001c0001t0020g0288 a0001c0001t0024g0234 a0001c0001t0033g0243 a0001c0001t0147g0218 a0001c0002t0002g0239 a0001c0004t0002g0233 a0001c0004t0031g0238	12	346	0.0347	18	c.-52 others(29): Show c.-5221_-5220insGTGCGTGTGTGTGTGTGT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		4921		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12660968	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	346	0.0029	18	c.-52 others(29): Show c.-5221_-5220insGTGTGTGTGTGTGTGTGT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		4921		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12663500	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0283 a0001c0002t0006g0283	1	346	0.0029	18	c.-26 others(29): Show c.-2689_-2688insCACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		2389		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12663502	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA19000.hp2 NA18942.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0039 a0001c0001t0008 a0001c0001t0039	a0001c0001t0008g0131 a0001c0001t0039g0178 a0001c0001t0008g0131 a0001c0001t0039g0178	2	346	0.0058	18	c.-26 others(29): Show c.-2687_-2686insCACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		2387		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12663502	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG02109.hp2 others(3): Show HG00741.hp2 HG01106.hp2 HG02109.hp2 HG03130.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0055 others(3): Show a0001c0001t0002 a0001c0001t0034 a0001c0001t0055 a0001c0001t0126 a0001c0001t0146 a0001c0001t0168	a0001c0001t0002g0187 a0001c0001t0034g0257 a0001c0001t0055g0314 others(3): Show a0001c0001t0002g0187 a0001c0001t0034g0257 a0001c0001t0055g0314 a0001c0001t0126g0341 a0001c0001t0146g0186 a0001c0001t0168g0197	6	346	0.0173	18	c.-26 others(29): Show c.-2687_-2686insCGCACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		2387		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12688532	C C	CCTTCCTT others(11): Show CCTTCCTTCCTTCCATCTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp2 HG02965.hp2 others(1): Show HG02055.hp2 HG02622.hp2 HG02965.hp2 HG03225.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0006 a0017c0020 a0001c0001 a0001c0006 a0017c0020	a0001c0001t0010 a0001c0006t0015 a0017c0020t0199 a0001c0001t0010 a0001c0006t0015 a0017c0020t0199	a0001c0001t0010g0230 a0001c0001t0010g0231 a0001c0006t0015g0229 others(1): Show a0001c0001t0010g0230 a0001c0001t0010g0231 a0001c0006t0015g0229 a0017c0020t0199g0225	4	346	0.0116	18	c.56- others(35): Show c.56-16582_56-16565dupATCTTCTTCCTTCCTTCC	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12714323	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG02080.hp1 others(7): Show HG00408.hp1 HG00597.hp1 HG02080.hp1 HG02080.hp2 HG03704.hp2 HG04228.hp2 NA18951.hp2 NA18956.hp1 NA19060.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0035 a0001c0001t0038 a0001c0001t0047 a0001c0001t0094 a0001c0001t0145 a0001c0002t0203 a0002c0005t0130	a0001c0001t0001g0089 a0001c0001t0004g0085 a0001c0001t0007g0166 others(7): Show a0001c0001t0001g0089 a0001c0001t0004g0085 a0001c0001t0007g0166 a0001c0001t0035g0183 a0001c0001t0038g0024 a0001c0001t0047g0195 a0001c0001t0094g0212 a0001c0001t0145g0191 a0001c0002t0203g0196 a0002c0005t0130g0192	10	346	0.0289	18	c.122 others(35): Show c.122-1174_122-1157dupACACACACACACACACAC	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12719174	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	346	0.0029	18	c.253 others(35): Show c.253+1766_253+1783dupAAAAAAAAAAAAAAAAAA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12749707	G G	GTGTATAT others(11): Show GTGTATATATATACACATA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA19055.hp2 NA18612.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0198 a0001c0001t0021g0253 a0001c0001t0005g0198 a0001c0001t0021g0253	2	346	0.0058	18	c.112 others(37): Show c.1126-2696_1126-2695insACACATATGTATATATAT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12749707	G G	GTGTATAT others(11): Show GTGTATATATATACATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(165): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18956.hp2 NA18960.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0013 a0014 a0016 a0018	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0015 a0001c0028 a0002c0005 a0003c0008 a0004c0017 a0006c0010 a0007c0030 a0008c0029 a0009c0016 a0013c0025 a0014c0022 a0016c0021 a0018c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(132): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0073 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0001t0090 a0001c0001t0091 a0001c0001t0095 a0001c0001t0102 a0001c0001t0106 a0001c0001t0109 a0001c0001t0114 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0127 a0001c0001t0128 a0001c0001t0133 a0001c0001t0136 a0001c0001t0141 a0001c0001t0142 a0001c0001t0147 a0001c0001t0151 a0001c0001t0158 a0001c0001t0159 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0169 a0001c0001t0172 a0001c0001t0173 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0188 a0001c0001t0189 a0001c0001t0191 a0001c0001t0193 a0001c0001t0194 a0001c0001t0201 a0001c0003t0076 a0001c0003t0110 a0001c0003t0186 a0001c0003t0187 a0001c0003t0207 a0001c0003t0208 a0001c0003t0210 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0031 a0001c0006t0015 a0001c0006t0049 a0001c0006t0092 a0001c0007t0001 a0001c0007t0002 a0001c0007t0043 a0001c0011t0018 a0001c0015t0001 a0001c0028t0174 a0002c0005t0002 a0002c0005t0003 a0002c0005t0011 a0002c0005t0101 a0002c0005t0130 a0002c0005t0190 a0002c0005t0204 a0003c0008t0103 a0004c0017t0007 a0006c0010t0098 a0006c0010t0148 a0007c0030t0115 a0008c0029t0116 a0009c0016t0119 a0013c0025t0003 a0014c0022t0181 a0016c0021t0180 a0018c0024t0011	a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0104 others(163): Show a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0002g0187 a0001c0001t0002g0204 a0001c0001t0003g0116 a0001c0001t0003g0188 a0001c0001t0003g0201 a0001c0001t0003g0211 a0001c0001t0004g0044 a0001c0001t0004g0164 a0001c0001t0004g0220 a0001c0001t0005g0065 a0001c0001t0005g0091 a0001c0001t0005g0141 a0001c0001t0006g0060 a0001c0001t0006g0140 a0001c0001t0006g0174 a0001c0001t0007g0166 a0001c0001t0007g0194 a0001c0001t0008g0047 a0001c0001t0008g0052 a0001c0001t0008g0173 a0001c0001t0008g0179 a0001c0001t0009g0329 a0001c0001t0011g0126 a0001c0001t0011g0235 a0001c0001t0016g0042 a0001c0001t0016g0222 a0001c0001t0017g0109 a0001c0001t0017g0115 a0001c0001t0019g0067 a0001c0001t0019g0147 a0001c0001t0020g0148 a0001c0001t0022g0016 a0001c0001t0022g0163 a0001c0001t0023g0045 a0001c0001t0024g0234 a0001c0001t0026g0002 a0001c0001t0027g0301 a0001c0001t0032g0139 a0001c0001t0033g0129 a0001c0001t0034g0036 a0001c0001t0034g0257 a0001c0001t0035g0078 a0001c0001t0035g0183 a0001c0001t0036g0069 a0001c0001t0036g0175 a0001c0001t0037g0070 a0001c0001t0038g0236 a0001c0001t0039g0178 a0001c0001t0040g0272 a0001c0001t0041g0011 a0001c0001t0042g0061 a0001c0001t0044g0071 a0001c0001t0044g0072 a0001c0001t0046g0298 a0001c0001t0047g0195 a0001c0001t0050g0009 a0001c0001t0051g0007 a0001c0001t0052g0325 a0001c0001t0053g0313 a0001c0001t0055g0314 a0001c0001t0056g0318 a0001c0001t0057g0312 a0001c0001t0059g0320 a0001c0001t0062g0316 a0001c0001t0065g0327 a0001c0001t0066g0315 a0001c0001t0067g0324 a0001c0001t0069g0246 a0001c0001t0073g0105 a0001c0001t0075g0106 a0001c0001t0077g0086 a0001c0001t0079g0291 a0001c0001t0080g0228 a0001c0001t0081g0026 a0001c0001t0082g0193 a0001c0001t0083g0154 a0001c0001t0086g0180 a0001c0001t0090g0310 a0001c0001t0091g0311 a0001c0001t0095g0307 a0001c0001t0102g0339 a0001c0001t0106g0041 a0001c0001t0109g0342 a0001c0001t0114g0282 a0001c0001t0117g0270 a0001c0001t0118g0340 a0001c0001t0120g0280 a0001c0001t0121g0037 a0001c0001t0122g0308 a0001c0001t0123g0102 a0001c0001t0124g0165 a0001c0001t0127g0068 a0001c0001t0128g0274 a0001c0001t0133g0114 a0001c0001t0136g0216 a0001c0001t0141g0013 a0001c0001t0142g0075 a0001c0001t0147g0218 a0001c0001t0151g0247 a0001c0001t0158g0172 a0001c0001t0159g0269 a0001c0001t0162g0184 a0001c0001t0163g0113 a0001c0001t0164g0190 a0001c0001t0169g0267 a0001c0001t0172g0263 a0001c0001t0173g0099 a0001c0001t0175g0014 a0001c0001t0176g0012 a0001c0001t0177g0043 a0001c0001t0178g0077 a0001c0001t0179g0079 a0001c0001t0188g0040 a0001c0001t0189g0215 a0001c0001t0191g0213 a0001c0001t0193g0302 a0001c0001t0194g0214 a0001c0001t0201g0083 a0001c0003t0076g0289 a0001c0003t0110g0306 a0001c0003t0186g0032 a0001c0003t0187g0271 a0001c0003t0207g0209 a0001c0003t0208g0281 a0001c0003t0210g0332 a0001c0004t0001g0100 a0001c0004t0002g0049 a0001c0004t0002g0233 a0001c0004t0003g0128 a0001c0004t0003g0254 a0001c0004t0005g0210 a0001c0004t0031g0238 a0001c0006t0015g0033 a0001c0006t0015g0229 a0001c0006t0049g0006 a0001c0006t0092g0059 a0001c0007t0001g0219 a0001c0007t0002g0205 a0001c0007t0043g0207 a0001c0007t0043g0208 a0001c0011t0018g0001 a0001c0015t0001g0255 a0001c0028t0174g0249 a0002c0005t0002g0185 a0002c0005t0003g0296 a0002c0005t0011g0292 a0002c0005t0101g0160 a0002c0005t0130g0192 a0002c0005t0190g0278 a0002c0005t0204g0295 a0003c0008t0103g0021 a0004c0017t0007g0252 a0006c0010t0098g0266 a0006c0010t0148g0149 a0007c0030t0115g0262 a0008c0029t0116g0335 a0009c0016t0119g0268 a0013c0025t0003g0152 a0014c0022t0181g0279 a0016c0021t0180g0087 a0018c0024t0011g0117	168	346	0.4856	18	c.112 others(37): Show c.1126-2696_1126-2695insACATATATGTATATATAT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12761590	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0183 a0001c0002t0183	a0001c0002t0183g0062 a0001c0002t0183g0062	1	346	0.0029	18	c.238 others(35): Show c.2389+913_2389+930dupCACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCOS_chr1_171617243_171631888	171624435	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02559.hp2 others(4): Show HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02895.hp2 NA19002.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0008 a0001c0001t0001g0034	7	412	0.0170	18	c.95+ others(31): Show c.95+466_95+483dupTATTATTATTATTATTAT	MYOCOS	ENSG00000283683.2	transcript	ENST00000637642.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
MYOF_chr10_93301429_93487334	93336865	A A	AAAGAAAG others(11): Show AAAGAAAGGAAGGAAAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03139.hp2 NA18522.hp2 HG01433.hp1 HG03139.hp2 NA18522.hp2	a0011 a0013 a0011 a0013	a0011c0025 a0013c0027 a0011c0025 a0013c0027	a0011c0025t0001 a0013c0027t0001 a0011c0025t0001 a0013c0027t0001	a0011c0025t0001g0018 a0011c0025t0001g0022 a0013c0027t0001g0050 a0011c0025t0001g0018 a0011c0025t0001g0022 a0013c0027t0001g0050	3	240	0.0125	18	c.443 others(35): Show c.4438-837_4438-820dupCTCTTTCCTTCCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	40/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93354666	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02015.hp2 HG02559.hp2 others(1): Show HG01167.hp1 HG02015.hp2 HG02559.hp2 HG02886.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0001c0003 a0001c0009 others(1): Show a0001c0001 a0001c0003 a0001c0009 a0020c0039	a0001c0001t0001 a0001c0003t0002 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0003t0002 a0001c0009t0001 a0020c0039t0001	a0001c0001t0001g0148 a0001c0003t0002g0204 a0001c0009t0001g0008 others(1): Show a0001c0001t0001g0148 a0001c0003t0002g0204 a0001c0009t0001g0008 a0020c0039t0001g0069	4	240	0.0167	18	c.340 others(35): Show c.3404-796_3404-779dupAGAGAGAGAGAGAGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93369110	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0019 a0019	a0019c0046 a0019c0046	a0019c0046t0003 a0019c0046t0003	a0019c0046t0003g0236 a0019c0046t0003g0236	1	240	0.0042	18	c.258 others(35): Show c.2589+517_2589+534dupAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	25/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0139 a0001c0003t0001g0139	1	240	0.0042	18	c.200 others(37): Show c.2001+1152_2001+1169dupTATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18984.hp2 HG02717.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0137 a0001c0001t0001g0118 a0001c0001t0001g0137	2	240	0.0083	18	c.200 others(37): Show c.2001+1169_2001+1170insTATATATATACACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93394448	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0191 a0002c0011t0002g0191	1	240	0.0042	18	c.141 others(37): Show c.1418-1511_1418-1494dupAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	16/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp2 HG02523.hp1 others(4): Show HG01168.hp2 HG02055.hp2 HG02523.hp1 NA18612.hp1 NA18995.hp2 NA19012.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0030	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0005c0030t0002	a0001c0001t0001g0075 a0001c0001t0001g0146 a0001c0001t0002g0171 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0146 a0001c0001t0002g0171 a0001c0002t0001g0098 a0001c0003t0001g0085 a0001c0003t0001g0135 a0005c0030t0002g0170	7	240	0.0292	18	c.730 others(35): Show c.730-2087_730-2070dupTATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93441997	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0235 a0004c0006t0003g0235	1	240	0.0042	18	c.236 others(37): Show c.236+10035_236+10052dupGTGTGTGTGTGTGTGTGT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	3/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93442041	C C	CACACACA others(11): Show CACACACACACACAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG02965.hp1 others(1): Show HG02055.hp1 HG02922.hp2 HG02965.hp1 HG06807.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0015 a0004c0006 a0001c0003 a0001c0015 a0004c0006	a0001c0003t0002 a0001c0015t0002 a0004c0006t0002 a0001c0003t0002 a0001c0015t0002 a0004c0006t0002	a0001c0003t0002g0173 a0001c0003t0002g0205 a0001c0015t0002g0169 others(1): Show a0001c0003t0002g0173 a0001c0003t0002g0205 a0001c0015t0002g0169 a0004c0006t0002g0203	4	240	0.0167	18	c.236 others(37): Show c.236+10008_236+10009insCTCTCTGTGTGTGTGTGT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	3/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482847	A A	ATATATAT others(11): Show ATATATATATATAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	240	0.0042	18	c.-65 others(27): Show c.-654_-653insATTATTTATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		514		chr10	TogoVar
MYOF_chr10_93301429_93487334	93482847	A A	ATATATAT others(11): Show ATATATATATATATAATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0054 a0001c0035t0001g0054	1	240	0.0042	18	c.-65 others(27): Show c.-654_-653insAAATTATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		514		chr10	TogoVar
MYOG_chr1_203078129_203091012	203084195	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00735.hp2 others(8): Show HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01516.hp1 HG02004.hp2 HG03041.hp2 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0005c0006t0007	a0001c0001t0001g0027 a0001c0001t0007g0025 a0001c0001t0007g0114 others(3): Show a0001c0001t0001g0027 a0001c0001t0007g0025 a0001c0001t0007g0114 a0001c0001t0008g0074 a0001c0001t0019g0104 a0005c0006t0007g0145	11	460	0.0239	18	c.554 others(33): Show c.554-182_554-165dupACACACACACACACACAC	MYOG	ENSG00000122180.5	transcript	ENST00000241651.5	protein_coding	2/2			chr1	TogoVar
MYOM1_chr18_3061807_3224968	3072350	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 NA18522.hp1 HG01891.hp1 HG02257.hp1 NA18522.hp1	a0022 a0023 a0060 a0022 a0023 a0060	a0022c0142 a0023c0155 a0060c0175 a0022c0142 a0023c0155 a0060c0175	a0022c0142t0003 a0023c0155t0001 a0060c0175t0001 a0022c0142t0003 a0023c0155t0001 a0060c0175t0001	a0022c0142t0003g0150 a0023c0155t0001g0026 a0060c0175t0001g0182 a0022c0142t0003g0150 a0023c0155t0001g0026 a0060c0175t0001g0182	3	330	0.0091	18	c.470 others(35): Show c.4709-479_4709-462dupAAAAAAAAAAAAAAAAAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	36/37			chr18	TogoVar
MYOM1_chr18_3061807_3224968	3127282	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00673.hp1 others(6): Show HG00438.hp1 HG00609.hp2 HG00673.hp1 HG02004.hp1 HG02015.hp2 HG02486.hp1 HG02523.hp2 HG02895.hp2 NA18980.hp1	a0003 a0004 a0008 others(2): Show a0003 a0004 a0008 a0019 a0033	a0003c0037 a0003c0093 a0004c0132 others(6): Show a0003c0037 a0003c0093 a0004c0132 a0004c0133 a0008c0024 a0008c0039 a0008c0104 a0019c0171 a0033c0071	a0003c0037t0002 a0003c0093t0001 a0004c0132t0003 others(6): Show a0003c0037t0002 a0003c0093t0001 a0004c0132t0003 a0004c0133t0002 a0008c0024t0001 a0008c0039t0001 a0008c0104t0002 a0019c0171t0001 a0033c0071t0003	a0003c0037t0002g0057 a0003c0093t0001g0070 a0004c0132t0003g0242 others(6): Show a0003c0037t0002g0057 a0003c0093t0001g0070 a0004c0132t0003g0242 a0004c0133t0002g0256 a0008c0024t0001g0072 a0008c0039t0001g0126 a0008c0104t0002g0074 a0019c0171t0001g0185 a0033c0071t0003g0172	9	330	0.0273	18	c.279 others(35): Show c.2795-403_2795-386dupATATATATATATATATAT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	18/37			chr18	TogoVar
MYOM1_chr18_3061807_3224968	3219602	G G	GAGAAGAG others(11): Show GAGAAGAGCTGTGCCAGCC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0267 a0001c0005t0002g0267	1	330	0.0030	18	c.-29 others(33): Show c.-29+183_-29+200dupGGCTGGCACAGCTCTTCT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	1/37			chr18	TogoVar
MYOM3_chr1_24051041_24117135	24067354	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0232 a0002c0001t0001g0232	1	364	0.0028	18	c.335 others(35): Show c.3356-284_3356-267dupGAAAGAAAGAAAGAAAGA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOT_chr5_137862860_137892851	137863804	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01891.hp1 others(8): Show HG01167.hp1 HG01169.hp1 HG01891.hp1 HG02293.hp2 HG02976.hp2 HG04228.hp1 NA18967.hp2 NA18987.hp2 NA19043.hp1 NA19088.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0014 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0136 a0006c0009t0001g0097	11	352	0.0313	18	c.-43 others(29): Show c.-4361_-4360insACACACACACACACACAC	MYOT	ENSG00000120729.10	transcript	ENST00000239926.9	protein_coding		4055		chr5	TogoVar
MYOZ1_chr10_73626612_73646474	73628261	T T	TATATATA others(11): Show TATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	386	0.0026	18	c.36 others(29): Show c.3668_*3669insGTGTATATATATATATAT	MYOZ1	ENSG00000177791.12	transcript	ENST00000359322.5	protein_coding		3350		chr10	TogoVar
MYOZ1_chr10_73626612_73646474	73628261	T T	TATATATA others(11): Show TATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02486.hp2 others(1): Show HG01884.hp2 HG02280.hp2 HG02486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0088 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0003t0001g0144	4	386	0.0104	18	c.36 others(29): Show c.3668_*3669insGTATATATATATATATAT	MYOZ1	ENSG00000177791.12	transcript	ENST00000359322.5	protein_coding		3350		chr10	TogoVar
MYOZ2_chr4_119130832_119192789	119168683	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	394	0.0025	18	c.560 others(35): Show c.560+4301_560+4318dupCAACAACAACAACAACAA	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYOZ3_chr5_150656251_150684368	150656742	A A	ACCGCCCC others(11): Show ACCGCCCCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	394	0.0025	18	c.-46 others(29): Show c.-4687_-4686insCCGCCCCCGCCCCCGCCC	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding		4508		chr5	TogoVar

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