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
MYO5C_chr15_52187322_52300804	52256587	A A	ACACACGC others(15): Show ACACACGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp2 HG03516.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0038 a0001c0003t0003g0059 a0001c0003t0003g0038 a0001c0003t0003g0059	2	360	0.0056	22	c.139 others(37): Show c.1395+51_1395+52insCGCGCGCGCGCGCGCGCGTGTG	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	11/40			chr15	TogoVar
MYO5C_chr15_52187322_52300804	52291731	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0150 a0002c0002t0006g0150	1	360	0.0028	22	c.27+ others(37): Show c.27+3857_27+3878dupAAAAAAAAAAAAAAAAAAAAAA	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40			chr15	TogoVar
MYO6_chr6_75744239_75924537	75924529	A A	ATAATATA others(15): Show ATAATATAATTATATAATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 NA18939.hp1 NA18962.hp2 others(6): Show HG01069.hp2 NA18939.hp1 NA18962.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp2 NA18998.hp1 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0018 a0001c0001t0121 others(3): Show a0001c0001t0009 a0001c0001t0018 a0001c0001t0121 a0001c0001t0123 a0001c0001t0137 a0001c0002t0082	a0001c0001t0009g0327 a0001c0001t0018g0340 a0001c0001t0018g0345 others(6): Show a0001c0001t0009g0327 a0001c0001t0018g0340 a0001c0001t0018g0345 a0001c0001t0018g0348 a0001c0001t0018g0349 a0001c0001t0121g0351 a0001c0001t0123g0342 a0001c0001t0137g0165 a0001c0002t0082g0240	9	358	0.0251	22	c.95 others(33): Show c.9517_*9518insTAATATAATTATATAATATAAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding		4993		chr6	TogoVar
MYO7B_chr2_127530683_127642726	127571442	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0114 a0002c0001t0001g0114	1	282	0.0036	22	c.592 others(39): Show c.592+1549_592+1550insTTTTTTTTTTTTTTTTTTTTTT	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO9A_chr15_71817291_72123150	71860969	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01433.hp2 HG01978.hp2 others(1): Show HG01070.hp1 HG01433.hp2 HG01978.hp2 HG02257.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0007 a0001c0002 a0006c0007	a0001c0002t0004 a0006c0007t0015 a0001c0002t0004 a0006c0007t0015	a0001c0002t0004g0073 a0001c0002t0004g0093 a0001c0002t0004g0095 others(1): Show a0001c0002t0004g0073 a0001c0002t0004g0093 a0001c0002t0004g0095 a0006c0007t0015g0075	4	308	0.0130	22	c.609 others(41): Show c.6092-1195_6092-1174dupTTTTTTTTTTTTTTTTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	33/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71867798	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02615.hp2 HG02040.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0023 a0001c0001t0005 a0001c0002t0023	a0001c0001t0005g0216 a0001c0002t0023g0085 a0001c0001t0005g0216 a0001c0002t0023g0085	2	308	0.0065	22	c.598 others(41): Show c.5980-5209_5980-5188dupTGTGTGTGTGTGTGTGTGTGTG	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	32/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(15): Show CTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG03486.hp1 others(1): Show HG02258.hp2 HG02965.hp1 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0121 a0001c0001t0001g0150 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0150 a0001c0001t0001g0180 a0001c0001t0014g0113	4	308	0.0130	22	c.268 others(41): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAAGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71910168	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18945.hp2 NA18961.hp1 others(3): Show HG00408.hp1 NA18945.hp2 NA18961.hp1 NA18967.hp2 NA18983.hp2 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0022 a0001c0002 a0001c0022	a0001c0002t0002 a0001c0002t0043 a0001c0022t0002 a0001c0002t0002 a0001c0002t0043 a0001c0022t0002	a0001c0002t0002g0022 a0001c0002t0002g0040 a0001c0002t0002g0045 others(3): Show a0001c0002t0002g0022 a0001c0002t0002g0040 a0001c0002t0002g0045 a0001c0002t0002g0065 a0001c0002t0043g0051 a0001c0022t0002g0050	6	308	0.0195	22	c.268 others(41): Show c.2686-5163_2686-5162insTATATATATATATATATATACA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928027	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 homoSapiens_chm13v2.hp1 HG01081.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0001t0001 a0001c0002t0016	a0001c0001t0001g0195 a0001c0002t0016g0081 a0001c0001t0001g0195 a0001c0002t0016g0081	2	308	0.0065	22	c.256 others(41): Show c.2562+5621_2562+5642dupATATATATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18939.hp2 HG01943.hp2 NA18939.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0026 a0001c0001 a0017c0026	a0001c0001t0001 a0017c0026t0001 a0001c0001t0001 a0017c0026t0001	a0001c0001t0001g0201 a0017c0026t0001g0174 a0001c0001t0001g0201 a0017c0026t0001g0174	2	308	0.0065	22	c.256 others(41): Show c.2562+5613_2562+5614insAATATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	308	0.0033	22	c.256 others(41): Show c.2562+5613_2562+5614insAAAATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	308	0.0033	22	c.256 others(41): Show c.2562+5613_2562+5614insAAAAAATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956350	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03540.hp1 HG02886.hp1 HG03540.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0024 a0007c0009t0024	a0007c0009t0024g0269 a0007c0009t0024g0270 a0007c0009t0024g0269 a0007c0009t0024g0270	2	308	0.0065	22	c.218 others(41): Show c.2182+3550_2182+3551insTTATATATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71966265	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0175 a0001c0001t0020g0175	1	308	0.0033	22	c.198 others(41): Show c.1986+1697_1986+1718dupACACACACACACACACACACAC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	13/41			chr15	TogoVar
MYOCD_chr17_12660890_12773949	12660968	C C	CGTGCGTG others(15): Show CGTGCGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19005.hp1 NA19004.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0191 a0001c0001t0005 a0001c0001t0191	a0001c0001t0005g0232 a0001c0001t0191g0213 a0001c0001t0005g0232 a0001c0001t0191g0213	2	346	0.0058	22	c.-52 others(33): Show c.-5221_-5220insGTGCGTGTGTGTGTGTGTGTGT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		4921		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12663502	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0045 a0001c0001t0023g0045	1	346	0.0029	22	c.-26 others(33): Show c.-2687_-2686insCACACACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		2387		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12663502	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02615.hp1 others(1): Show HG01515.hp2 HG01517.hp1 HG02615.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0035 a0001c0001t0040 a0001c0007t0043 a0001c0001t0035 a0001c0001t0040 a0001c0007t0043	a0001c0001t0035g0183 a0001c0001t0040g0272 a0001c0007t0043g0207 others(1): Show a0001c0001t0035g0183 a0001c0001t0040g0272 a0001c0007t0043g0207 a0001c0007t0043g0208	4	346	0.0116	22	c.-26 others(33): Show c.-2687_-2686insCGCACACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		2387		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12688550	T T	TCTTCCTT others(15): Show TCTTCCTTCCTTCCATCTTCTTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	346	0.0029	22	c.56- others(39): Show c.56-16565_56-16564insATCTTCTTCCTTCCTTCCTTCC	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12749709	G G	GTATATAT others(15): Show GTATATATATACATATATGTATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	346	0.0029	22	c.112 others(41): Show c.1126-2696_1126-2695insACATATATGTATATATATATAT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOF_chr10_93301429_93487334	93354666	A A	ACTCTCTC others(15): Show ACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01261.hp1 HG01433.hp2 others(3): Show HG00140.hp1 HG01261.hp1 HG01433.hp2 HG02055.hp1 HG02683.hp1 NA19003.hp1	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0001 a0001c0003 a0002c0011 others(1): Show a0001c0001 a0001c0003 a0002c0011 a0024c0044	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0002c0011t0001 a0024c0044t0001	a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0002g0200 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0002g0200 a0001c0003t0002g0205 a0002c0011t0001g0144 a0024c0044t0001g0001	6	240	0.0250	22	c.340 others(39): Show c.3404-800_3404-779dupAGAGAGAGAGAGAGAGAGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93369110	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG01884.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0001 a0001c0003t0002 a0001c0004t0001	a0001c0003t0002g0207 a0001c0004t0001g0009 a0001c0003t0002g0207 a0001c0004t0001g0009	2	240	0.0083	22	c.258 others(39): Show c.2589+513_2589+534dupAAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	25/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93370314	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03139.hp2 HG02615.hp1 HG03139.hp2	a0004 a0018 a0004 a0018	a0004c0006 a0018c0027 a0004c0006 a0018c0027	a0004c0006t0003 a0018c0027t0001 a0004c0006t0003 a0018c0027t0001	a0004c0006t0003g0235 a0018c0027t0001g0050 a0004c0006t0003g0235 a0018c0027t0001g0050	2	240	0.0083	22	c.245 others(39): Show c.2458-539_2458-538insAAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	24/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0003 a0025c0041t0003	a0025c0041t0003g0239 a0025c0041t0003g0239	1	240	0.0042	22	c.200 others(41): Show c.2001+1169_2001+1170insTATATATATATATATATATACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0006 a0006	a0006c0059 a0006c0059	a0006c0059t0002 a0006c0059t0002	a0006c0059t0002g0178 a0006c0059t0002g0178	1	240	0.0042	22	c.200 others(41): Show c.2001+1169_2001+1170insTATATATATATATATATACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp2 HG01081.hp2 others(6): Show HG00673.hp2 HG00741.hp2 HG01081.hp2 HG02523.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 NA18612.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0010 others(2): Show a0001c0001 a0001c0003 a0002c0010 a0002c0011 a0002c0053	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0010t0001 a0002c0010t0002 a0002c0011t0002 a0002c0053t0001	a0001c0001t0001g0067 a0001c0001t0002g0171 a0001c0003t0001g0034 others(6): Show a0001c0001t0001g0067 a0001c0001t0002g0171 a0001c0003t0001g0034 a0002c0010t0001g0048 a0002c0010t0001g0065 a0002c0010t0001g0066 a0002c0010t0002g0220 a0002c0011t0002g0167 a0002c0053t0001g0077	9	240	0.0375	22	c.200 others(41): Show c.2001+1169_2001+1170insTATATATATATATATACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	240	0.0042	22	c.200 others(41): Show c.2001+1169_2001+1170insTATATATATATATACACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01978.hp1 HG03486.hp1 others(1): Show HG00099.hp2 HG01978.hp1 HG03486.hp1 HG03669.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0005 a0021c0056 a0001c0001 a0001c0005 a0021c0056	a0001c0001t0001 a0001c0005t0001 a0021c0056t0002 a0001c0001t0001 a0001c0005t0001 a0021c0056t0002	a0001c0001t0001g0129 a0001c0001t0001g0163 a0001c0005t0001g0024 others(1): Show a0001c0001t0001g0129 a0001c0001t0001g0163 a0001c0005t0001g0024 a0021c0056t0002g0172	4	240	0.0167	22	c.730 others(39): Show c.730-2091_730-2070dupTATATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482845	T T	TTATATAT others(15): Show TTATATATATATATATAATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01496.hp2 others(1): Show HG00741.hp2 HG01081.hp2 HG01496.hp2 HG01952.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0010 a0001c0001 a0001c0003 a0002c0010	a0001c0001t0001 a0001c0003t0001 a0002c0010t0001 a0001c0001t0001 a0001c0003t0001 a0002c0010t0001	a0001c0001t0001g0073 a0001c0003t0001g0115 a0002c0010t0001g0048 others(1): Show a0001c0001t0001g0073 a0001c0003t0001g0115 a0002c0010t0001g0048 a0002c0010t0001g0065	4	240	0.0167	22	c.-65 others(31): Show c.-652_-651insTAAAATTATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		512		chr10	TogoVar
MYOG_chr1_203078129_203091012	203084195	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG01496.hp1 others(3): Show HG00639.hp2 HG01168.hp1 HG01496.hp1 HG01978.hp2 HG02615.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0001 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0041 a0001c0001t0007g0051 a0001c0001t0007g0119 others(1): Show a0001c0001t0001g0041 a0001c0001t0007g0051 a0001c0001t0007g0119 a0001c0001t0012g0118	6	460	0.0130	22	c.554 others(37): Show c.554-186_554-165dupACACACACACACACACACACAC	MYOG	ENSG00000122180.5	transcript	ENST00000241651.5	protein_coding	2/2			chr1	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03471.hp2 HG03041.hp2 HG03471.hp2	a0002 a0011 a0002 a0011	a0002c0044 a0011c0137 a0002c0044 a0011c0137	a0002c0044t0003 a0011c0137t0001 a0002c0044t0003 a0011c0137t0001	a0002c0044t0003g0206 a0011c0137t0001g0145 a0002c0044t0003g0206 a0011c0137t0001g0145	2	330	0.0061	22	c.27 others(33): Show c.2727_*2728insTATATATATATATATATATATA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM1_chr18_3061807_3224968	3127282	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA20300.hp1 NA19090.hp1 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0037 a0004c0130 a0003c0037 a0004c0130	a0003c0037t0002 a0004c0130t0001 a0003c0037t0002 a0004c0130t0001	a0003c0037t0002g0197 a0004c0130t0001g0089 a0003c0037t0002g0197 a0004c0130t0001g0089	2	330	0.0061	22	c.279 others(39): Show c.2795-407_2795-386dupATATATATATATATATATATAT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	18/37			chr18	TogoVar
MYOM1_chr18_3061807_3224968	3161472	T T	TGCACTAA others(15): Show TGCACTAAGCAGAAGTGATGAGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0004 a0004	a0004c0113 a0004c0113	a0004c0113t0003 a0004c0113t0003	a0004c0113t0003g0211 a0004c0113t0003g0211	1	330	0.0030	22	c.150 others(41): Show c.1501+2784_1501+2805dupCCTCATCACTTCTGCTTAGTGC	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	10/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2120675	T T	TATATATA others(15): Show TATATATATATATATTTCCTGTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG02145.hp2 HG03516.hp1	a0002 a0002	a0002c0034 a0002c0122 a0002c0034 a0002c0122	a0002c0034t0001 a0002c0122t0001 a0002c0034t0001 a0002c0122t0001	a0002c0034t0001g0384 a0002c0122t0001g0193 a0002c0034t0001g0384 a0002c0122t0001g0193	2	403	0.0050	22	c.345 others(41): Show c.3454-2577_3454-2576insATATATATATATATTTCCTGTA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36			chr8	TogoVar
MYOT_chr5_137862860_137892851	137863804	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01167.hp2 HG03195.hp2 others(1): Show HG00609.hp2 HG01167.hp2 HG03195.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0135 a0001c0001t0001g0225	4	352	0.0114	22	c.-43 others(33): Show c.-4361_-4360insACACACACACACACACACACAC	MYOT	ENSG00000120729.10	transcript	ENST00000239926.9	protein_coding		4055		chr5	TogoVar
MYOZ3_chr5_150656251_150684368	150675226	T T	TTGTGTGC others(15): Show TTGTGTGCGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp2 NA19240.hp1 HG02723.hp2 HG03453.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0007 a0002c0002t0006 a0002c0002t0007	a0002c0002t0006g0088 a0002c0002t0007g0107 a0002c0002t0007g0108 a0002c0002t0006g0088 a0002c0002t0007g0107 a0002c0002t0007g0108	3	394	0.0076	22	c.588 others(39): Show c.588-1475_588-1474insCGTGTGTGTGTGTGTGTGTGTG	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYPN_chr10_68104488_68217017	68169181	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0009 a0009	a0009c0039 a0009c0039	a0009c0039t0002 a0009c0039t0002	a0009c0039t0002g0214 a0009c0039t0002g0214	1	306	0.0033	22	c.197 others(41): Show c.1973+2521_1973+2542dupAAAAAAAAAAAAAAAAAAAAAA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYRFL_chr12_69820227_69964097	69891596	T T	TCTCTTTC others(15): Show TCTCTTTCTTTCTTTCTTTCCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01952.hp2 others(1): Show HG00438.hp2 HG01255.hp1 HG01952.hp2 NA19086.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0067 a0003c0004t0001g0074 a0003c0004t0001g0075 others(1): Show a0003c0004t0001g0067 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0083	4	322	0.0124	22	c.903 others(37): Show c.903+432_903+433insCTTTCTTTCTTTCTTTCCTCCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69945986	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG00735.hp1 HG01070.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0009 a0002c0002 a0006c0009	a0002c0002t0003 a0006c0009t0003 a0002c0002t0003 a0006c0009t0003	a0002c0002t0003g0139 a0006c0009t0003g0220 a0002c0002t0003g0139 a0006c0009t0003g0220	2	322	0.0062	22	c.222 others(41): Show c.2225-6120_2225-6099dupAAAAAAAAAAAAAAAAAAAAAA	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	39986400	T T	TCTCTCTC others(15): Show TCTCTCTCTTTCTCTCTCTCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03486.hp2 NA19240.hp1 others(1): Show HG02486.hp2 HG03486.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0010 a0001c0001 a0001c0004 a0002c0010	a0001c0001t0007 a0001c0004t0003 a0002c0010t0004 a0001c0001t0007 a0001c0004t0003 a0002c0010t0004	a0001c0001t0007g0096 a0001c0004t0003g0106 a0001c0004t0003g0165 others(1): Show a0001c0001t0007g0096 a0001c0004t0003g0106 a0001c0004t0003g0165 a0002c0010t0004g0045	4	170	0.0235	22	c.111 others(41): Show c.111-57642_111-57641insTTCTCTCTCTCTTCCTCTCTCT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40060596	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp1 HG02647.hp1 others(6): Show HG02258.hp2 HG02630.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp2 HG03041.hp1 NA18986.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0014 a0001c0020 a0002c0008	a0001c0001t0001 a0001c0004t0001 a0001c0006t0006 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0006 a0001c0014t0007 a0001c0020t0004 a0002c0008t0001	a0001c0001t0001g0050 a0001c0001t0001g0135 a0001c0004t0001g0079 others(6): Show a0001c0001t0001g0050 a0001c0001t0001g0135 a0001c0004t0001g0079 a0001c0006t0006g0084 a0001c0006t0006g0085 a0001c0006t0006g0088 a0001c0014t0007g0090 a0001c0020t0004g0140 a0002c0008t0001g0027	9	170	0.0529	22	c.332 others(41): Show c.332+16326_332+16347dupGAGAGAGAGAGAGAGAGAGAGA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40098740	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	170	0.0059	22	c.333 others(41): Show c.333-52290_333-52269dupGTGTGTGTGTGTGTGTGTGTGT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00741.hp2 others(18): Show HG00140.hp1 HG00642.hp2 HG00741.hp2 HG01192.hp2 HG01243.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02109.hp1 HG02155.hp1 HG02258.hp1 HG03130.hp1 HG03471.hp1 HG03942.hp1 NA18945.hp1 NA18971.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19080.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0001t0037 a0001c0001t0055 a0003c0003t0003 a0003c0003t0010 a0003c0003t0011 a0004c0004t0063	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0133 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0133 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0196 a0001c0001t0001g0226 a0001c0001t0004g0002 a0001c0001t0004g0145 a0001c0001t0008g0142 a0001c0001t0008g0157 a0001c0001t0009g0357 a0001c0001t0019g0268 a0001c0001t0037g0273 a0001c0001t0037g0275 a0001c0001t0055g0274 a0003c0003t0003g0001 a0003c0003t0010g0297 a0003c0003t0011g0329 a0004c0004t0063g0353	21	410	0.0512	22	c.85 others(33): Show c.8568_*8589dupACACACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58651446	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	410	0.0024	22	c.85 others(33): Show c.8550_*8551insAACACACACACACACACACACA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3296		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698084	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0369 a0004c0004t0012g0370 a0004c0004t0012g0369 a0004c0004t0012g0370	2	410	0.0049	22	c.68+ others(37): Show c.68+1900_68+1901insTATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG02630.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0125 a0002c0002t0013g0126 a0002c0002t0002g0125 a0002c0002t0013g0126	2	410	0.0049	22	c.68+ others(37): Show c.68+1882_68+1883insAAAAAAAAAAAAAATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1866565	A A	AGGGGAGA others(15): Show AGGGGAGAGAGAGAGAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0016 a0001c0016t0002g0016	1	104	0.0096	22	c.271 others(43): Show c.2712-14884_2712-14863dupGCCTGCCTCTCTCTCTCTCCCC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	18/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2216072	A A	ACTTCCAG others(15): Show ACTTCCAGCATGTAAAATGCTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01109.hp1 others(30): Show HG00140.hp2 HG00280.hp1 HG01109.hp1 HG01109.hp2 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG06807.hp2 NA18969.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0018 a0001c0022 a0001c0024 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0027 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0003t0017 a0001c0004t0007 a0001c0004t0012 a0001c0005t0011 a0001c0005t0012 a0001c0006t0003 a0001c0006t0007 a0001c0007t0004 a0001c0007t0018 a0001c0008t0001 a0001c0012t0014 a0001c0018t0002 a0001c0022t0016 a0001c0024t0020 a0003c0011t0001	a0001c0001t0001g0079 a0001c0001t0002g0090 a0001c0001t0004g0010 others(30): Show a0001c0001t0001g0079 a0001c0001t0002g0090 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0010g0034 a0001c0001t0021g0053 a0001c0002t0001g0089 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0004g0003 a0001c0002t0027g0104 a0001c0003t0001g0067 a0001c0003t0001g0100 a0001c0003t0003g0077 a0001c0003t0010g0096 a0001c0003t0017g0014 a0001c0004t0007g0035 a0001c0004t0012g0066 a0001c0005t0011g0074 a0001c0005t0011g0095 a0001c0005t0012g0092 a0001c0006t0003g0027 a0001c0006t0003g0028 a0001c0006t0007g0098 a0001c0007t0004g0006 a0001c0007t0018g0068 a0001c0008t0001g0091 a0001c0012t0014g0004 a0001c0018t0002g0085 a0001c0022t0016g0012 a0001c0024t0020g0064 a0003c0011t0001g0043 a0003c0011t0001g0078	33	104	0.3173	22	c.-42 others(43): Show c.-420-43085_-420-43084insAAAGCATTTTACATGCTGGAAG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236816	T T	TCTTCTTC others(15): Show TCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19055.hp1 HG02135.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0023t0003 a0001c0001t0001 a0001c0023t0003	a0001c0001t0001g0032 a0001c0023t0003g0057 a0001c0001t0001g0032 a0001c0023t0003g0057	2	104	0.0192	22	c.-42 others(43): Show c.-421+47587_-421+47588insGAAGAAGAAGAAGAAGAAGAAG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262939	G G	GATATATA others(15): Show GATATATATATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03195.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0013 a0001c0008 a0001c0013	a0001c0008t0005 a0001c0013t0001 a0001c0008t0005 a0001c0013t0001	a0001c0008t0005g0101 a0001c0013t0001g0038 a0001c0008t0005g0101 a0001c0013t0001g0038	2	104	0.0192	22	c.-42 others(43): Show c.-421+21464_-421+21465insATTTATATATATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2295553	G G	GACAGACA others(15): Show GACAGACAGACAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	104	0.0096	22	c.-52 others(43): Show c.-520-11051_-520-11050insATCTCTCTCTCTGTCTGTCTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar

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