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
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp1 HG01243.hp1 HG02922.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0305 a0002c0004t0001g0339 a0002c0004t0001g0305 a0002c0004t0001g0339	2	376	0.0053	22	c.125 others(39): Show c.1258-229_1258-228insAAAAAAAATATATATATATATA	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 AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0036 a0015c0022t0001g0036	1	376	0.0027	22	c.125 others(39): Show c.1258-229_1258-228insAAAAAATATATATATATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0017 a0017	a0017c0034 a0017c0034	a0017c0034t0001 a0017c0034t0001	a0017c0034t0001g0246 a0017c0034t0001g0246	1	376	0.0027	22	c.125 others(39): Show c.1258-229_1258-228insAAAATATATATATATATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50524737	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0220 a0002c0004t0001g0220	1	376	0.0027	22	c.163 others(39): Show c.1636-139_1636-138insTGTGTGTGTGAGAGAGAGAGAG	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50524737	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02280.hp2 HG02683.hp2 others(1): Show HG01074.hp1 HG02280.hp2 HG02683.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0006 a0002c0016 a0002c0003 a0002c0006 a0002c0016	a0002c0003t0001 a0002c0006t0001 a0002c0016t0001 a0002c0003t0001 a0002c0006t0001 a0002c0016t0001	a0002c0003t0001g0076 a0002c0006t0001g0183 a0002c0006t0001g0192 others(1): Show a0002c0003t0001g0076 a0002c0006t0001g0183 a0002c0006t0001g0192 a0002c0016t0001g0200	4	376	0.0106	22	c.163 others(39): Show c.1636-139_1636-138insTGTGTGTGTGTGTGTGAGAGAG	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50524737	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03453.hp2 HG02818.hp2 HG03453.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0151 a0011c0015t0001g0302 a0011c0015t0001g0151 a0011c0015t0001g0302	2	376	0.0053	22	c.163 others(39): Show c.1636-139_1636-138insTGTGTGTGTGTGTGTGTGTGAG	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCT1_chr6_152692897_152729569	152697679	A A	AACACACA others(15): Show AACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG02083.hp1 NA18747.hp1 others(2): Show HG01928.hp2 HG02083.hp1 NA18747.hp1 NA20129.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0007 a0001c0001 a0003c0003 a0005c0007	a0001c0001t0001 a0003c0003t0001 a0005c0007t0001 a0001c0001t0001 a0003c0003t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0049 a0003c0003t0001g0004 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0049 a0003c0003t0001g0004 a0003c0003t0001g0010 a0005c0007t0001g0144	5	444	0.0113	22	c.-22 others(31): Show c.-224_-223insACACACACACACACACACACAC	MYCT1	ENSG00000120279.7	transcript	ENST00000367245.6	protein_coding		217		chr6	TogoVar
MYH10_chr17_8469224_8635725	8489706	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG00741.hp2 others(7): Show HG00438.hp2 HG00673.hp2 HG00741.hp2 HG02055.hp1 HG02257.hp2 HG02965.hp2 HG03195.hp1 NA18973.hp1 NA19011.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0015	a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0009t0010 a0001c0015t0012	a0001c0001t0006g0123 a0001c0002t0002g0133 a0001c0002t0002g0134 others(7): Show a0001c0001t0006g0123 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0148 a0001c0002t0002g0153 a0001c0002t0002g0244 a0001c0002t0003g0092 a0001c0009t0010g0004 a0001c0015t0012g0151	10	274	0.0365	22	c.488 others(39): Show c.4884+633_4884+634insGTGTGTGTGTGTGTGTGTGTGT	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	35/42			chr17	TogoVar
MYH10_chr17_8469224_8635725	8489745	A A	ACACACAC others(15): Show ACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0163 a0001c0003t0002g0163	1	274	0.0037	22	c.488 others(39): Show c.4884+594_4884+595insGGTGTGTGTGTGTGTGTGTGTG	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	35/42			chr17	TogoVar
MYH10_chr17_8469224_8635725	8585286	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01169.hp2 others(27): Show HG00639.hp2 HG01074.hp2 HG01169.hp2 HG01257.hp2 HG01943.hp1 HG02004.hp1 HG02015.hp2 HG02080.hp2 HG02148.hp2 HG02257.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp2 HG02976.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG04204.hp2 NA18955.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18984.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19081.hp1 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0010 a0006c0018	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0003t0007 a0002c0010t0001 a0006c0018t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 others(27): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0103 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0232 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0015 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0135 a0001c0002t0002g0148 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0233 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0259 a0001c0002t0003g0009 a0001c0003t0007g0067 a0002c0010t0001g0066 a0006c0018t0001g0079	30	274	0.1095	22	c.530 others(39): Show c.530+3794_530+3795insTATATATATATATATATATATA	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	4/42			chr17	TogoVar
MYH10_chr17_8469224_8635725	8592933	C C	CCATATAT others(15): Show CCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01361.hp2 others(18): Show HG00735.hp1 HG01099.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02071.hp1 HG02080.hp1 HG02523.hp2 HG02630.hp2 HG02683.hp1 HG03927.hp1 HG04204.hp2 NA18906.hp2 NA18951.hp2 NA18973.hp2 NA19011.hp1 NA19064.hp2 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001	a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0183 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0272 a0001c0001t0003g0204 a0001c0001t0015g0218 a0001c0002t0001g0111 a0001c0002t0002g0115 a0001c0002t0002g0135 a0001c0002t0002g0148 a0001c0002t0002g0222 a0001c0002t0002g0236 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0006t0001g0191	21	274	0.0766	22	c.503 others(39): Show c.503-3826_503-3825insTATATATATATATATATATATG	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	3/42			chr17	TogoVar
MYH11_chr16_15698135_15862028	15712882	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02109.hp2 HG02074.hp2 HG02109.hp2	a0001 a0001	a0001c0006 a0001c0013 a0001c0006 a0001c0013	a0001c0006t0001 a0001c0013t0001 a0001c0006t0001 a0001c0013t0001	a0001c0006t0001g0079 a0001c0013t0001g0243 a0001c0006t0001g0079 a0001c0013t0001g0243	2	297	0.0067	22	c.578 others(41): Show c.5786+2026_5786+2027insAAAAAAAAAAAAAAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	40/40			chr16	TogoVar
MYH11_chr16_15698135_15862028	15788077	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0144 a0001c0018t0001g0145 a0001c0018t0001g0144 a0001c0018t0001g0145	2	297	0.0067	22	c.531 others(39): Show c.531-1346_531-1345insAAAAAAAAAAAAAAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	4/40			chr16	TogoVar
MYH11_chr16_15698135_15862028	15788095	T T	TTTTTTTT others(15): Show TTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03017.hp2 HG03491.hp1 others(1): Show HG01433.hp2 HG03017.hp2 HG03491.hp1 NA18954.hp1	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0002 a0001c0004 a0006c0027 others(1): Show a0001c0002 a0001c0004 a0006c0027 a0011c0046	a0001c0002t0001 a0001c0004t0002 a0006c0027t0001 others(1): Show a0001c0002t0001 a0001c0004t0002 a0006c0027t0001 a0011c0046t0001	a0001c0002t0001g0287 a0001c0004t0002g0291 a0006c0027t0001g0221 others(1): Show a0001c0002t0001g0287 a0001c0004t0002g0291 a0006c0027t0001g0221 a0011c0046t0001g0072	4	297	0.0135	22	c.531 others(39): Show c.531-1364_531-1363insTAAAAAAAAAAAAAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	4/40			chr16	TogoVar
MYH11_chr16_15698135_15862028	15842762	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03710.hp2 HG00642.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0001 a0001c0002t0001 a0001c0007t0001	a0001c0002t0001g0166 a0001c0007t0001g0231 a0001c0002t0001g0166 a0001c0007t0001g0231	2	297	0.0067	22	c.-17 others(39): Show c.-17-4515_-17-4494dupTTTTTTTTTTTTTTTTTTTTTT	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	1/40			chr16	TogoVar
MYH13_chr17_10295865_10378006	10351220	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03654.hp2 HG02074.hp2 HG03654.hp2	a0016 a0029 a0016 a0029	a0016c0116 a0029c0098 a0016c0116 a0029c0098	a0016c0116t0001 a0029c0098t0001 a0016c0116t0001 a0029c0098t0001	a0016c0116t0001g0087 a0029c0098t0001g0024 a0016c0116t0001g0087 a0029c0098t0001g0024	2	382	0.0052	22	c.100 others(39): Show c.1006-527_1006-526insTTTTTTTTTTTTTTTTTTTTTT	MYH13	ENSG00000006788.14	transcript	ENST00000252172.9	protein_coding	11/40			chr17	TogoVar
MYH14_chr19_50198622_50315540	50207271	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp2 HG02622.hp1 others(2): Show HG01243.hp1 HG01978.hp2 HG02622.hp1 HG03654.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0112	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0112t0001	a0001c0001t0001g0258 a0001c0002t0002g0262 a0001c0002t0004g0261 others(2): Show a0001c0001t0001g0258 a0001c0002t0002g0262 a0001c0002t0004g0261 a0001c0003t0002g0259 a0001c0112t0001g0260	5	298	0.0168	22	c.-3- others(37): Show c.-3-3070_-3-3049dupGAGAGAGAGAGAGAGAGAGAGA	MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYH1_chr17_10487307_10523542	10495760	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01167.hp1 others(9): Show HG00099.hp2 HG00733.hp1 HG01167.hp1 HG01169.hp2 HG01515.hp2 HG02523.hp2 HG02683.hp1 HG03041.hp1 HG03491.hp1 NA18906.hp1 NA19054.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0059 a0001c0001t0001g0133 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0059 a0001c0001t0001g0133 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0210 a0001c0001t0001g0218 a0001c0011t0001g0099	12	360	0.0333	22	c.516 others(39): Show c.5169+189_5169+190insTTTTTTTTTTTTTTTTTTTTTT	MYH1	ENSG00000109061.10	transcript	ENST00000226207.6	protein_coding	35/39			chr17	TogoVar
MYH2_chr17_10516148_10554658	10546255	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	352	0.0028	22	c.349 others(37): Show c.349-754_349-753insTATATATATATATATATATATA	MYH2	ENSG00000125414.19	transcript	ENST00000245503.10	protein_coding	4/39			chr17	TogoVar
MYH2_chr17_10516148_10554658	10546256	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01993.hp2 HG02615.hp1 others(4): Show HG01123.hp2 HG01993.hp2 HG02615.hp1 HG02717.hp1 HG03516.hp2 NA18964.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0181 a0001c0002t0001g0075 a0001c0002t0001g0124 others(4): Show a0001c0001t0001g0181 a0001c0002t0001g0075 a0001c0002t0001g0124 a0001c0003t0001g0123 a0001c0003t0001g0160 a0001c0004t0001g0125 a0001c0005t0001g0126	7	352	0.0199	22	c.349 others(37): Show c.349-776_349-755dupATATATATATATATATATATAT	MYH2	ENSG00000125414.19	transcript	ENST00000245503.10	protein_coding	4/39			chr17	TogoVar
MYH7_chr14_23407740_23440660	23422574	C C	CCTTTCTT others(15): Show CCTTTCTTTCTTTCTTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02976.hp2 HG02572.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0051 a0001c0004t0001g0051	2	346	0.0058	22	c.310 others(39): Show c.3100-250_3100-249insAAAGGGAAAGAAAGAAAGAAAG	MYH7	ENSG00000092054.13	transcript	ENST00000355349.4	protein_coding	24/39			chr14	TogoVar
MYH9_chr22_36276280_36392967	36354956	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	242	0.0041	22	c.-19 others(39): Show c.-19-5723_-19-5702dupGTGTGTGTGTGTGTGTGTGTGT	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40			chr22	TogoVar
MYL1_chr2_210285150_210320174	210308399	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	398	0.0025	22	c.133 others(39): Show c.133-5906_133-5885dupATATATATATATATATATATAT	MYL1	ENSG00000168530.16	transcript	ENST00000352451.4	protein_coding	1/6			chr2	TogoVar
MYLIP_chr6_16124086_16153248	16135748	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	416	0.0024	22	c.278 others(39): Show c.278+5007_278+5008insATATATATATATATATATATAT	MYLIP	ENSG00000007944.15	transcript	ENST00000356840.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYLK4_chr6_2658637_2755922	2699287	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02080.hp2 HG01192.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0218 a0001c0001t0002g0209 a0001c0001t0002g0218	2	384	0.0052	22	c.160 others(39): Show c.160-6450_160-6429dupAAAAAAAAAAAAAAAAAAAAAA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2725577	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01981.hp2 others(7): Show HG01106.hp2 HG01109.hp2 HG01981.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 NA19004.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0022 a0001c0001t0050 a0001c0001t0069 a0003c0003t0008	a0001c0001t0002g0084 a0001c0001t0002g0207 a0001c0001t0003g0186 others(7): Show a0001c0001t0002g0084 a0001c0001t0002g0207 a0001c0001t0003g0186 a0001c0001t0007g0183 a0001c0001t0009g0141 a0001c0001t0009g0341 a0001c0001t0022g0172 a0001c0001t0050g0336 a0001c0001t0069g0179 a0003c0003t0008g0088	10	384	0.0260	22	c.159 others(41): Show c.159+23558_159+23559insCTTTCTTTCTTTCTTTCTTTCT	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK_chr3_123605049_123889332	123607502	T T	TTATAATA others(15): Show TTATAATATATAATTTTATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0014 a0002c0002t0005g0014	1	156	0.0064	22	c.66 others(33): Show c.6602_*6603insTAATATAAAATTATATATTATA	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2546		chr3	TogoVar
MYLK_chr3_123605049_123889332	123677884	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18522.hp2 NA19057.hp2 HG02976.hp1 NA18522.hp2 NA19057.hp2	a0003 a0047 a0003 a0047	a0003c0018 a0047c0063 a0003c0018 a0047c0063	a0003c0018t0020 a0047c0063t0006 a0003c0018t0020 a0047c0063t0006	a0003c0018t0020g0044 a0003c0018t0020g0047 a0047c0063t0006g0054 a0003c0018t0020g0044 a0003c0018t0020g0047 a0047c0063t0006g0054	3	156	0.0192	22	c.365 others(41): Show c.3652+4318_3652+4339dupATATATATATATATATATATAT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding	20/33			chr3	TogoVar
MYLK_chr3_123605049_123889332	123677918	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18952.hp2 HG00558.hp1 NA18952.hp2	a0002 a0002	a0002c0003 a0002c0066 a0002c0003 a0002c0066	a0002c0003t0003 a0002c0066t0001 a0002c0003t0003 a0002c0066t0001	a0002c0003t0003g0142 a0002c0066t0001g0061 a0002c0003t0003g0142 a0002c0066t0001g0061	2	156	0.0128	22	c.365 others(41): Show c.3652+4305_3652+4306insGTGTATATATATATATATATAT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding	20/33			chr3	TogoVar
MYLK_chr3_123605049_123889332	123677918	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18906.hp1 HG01884.hp1 NA18906.hp1	a0005 a0006 a0005 a0006	a0005c0082 a0006c0009 a0005c0082 a0006c0009	a0005c0082t0002 a0006c0009t0049 a0005c0082t0002 a0006c0009t0049	a0005c0082t0002g0048 a0006c0009t0049g0129 a0005c0082t0002g0048 a0006c0009t0049g0129	2	156	0.0128	22	c.365 others(41): Show c.3652+4305_3652+4306insGTATATATATATATATATATAT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding	20/33			chr3	TogoVar
MYMK_chr9_133509586_133529959	133523682	G G	GGAGAGAG others(15): Show GGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	456	0.0022	22	c.135 others(39): Show c.135+1006_135+1027dupTCTCTCTCTCTCTCTCTCTCTC	MYMK	ENSG00000187616.5	transcript	ENST00000339996.4	protein_coding	1/4			chr9	TogoVar
MYO10_chr5_16656907_16941288	16662316	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp1 NA18989.hp1 NA18946.hp1 NA18989.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0019 a0002c0002 a0013c0019	a0002c0002t0034 a0013c0019t0034 a0002c0002t0034 a0013c0019t0034	a0002c0002t0034g0226 a0013c0019t0034g0019 a0002c0002t0034g0226 a0013c0019t0034g0019	2	272	0.0074	22	c.43 others(33): Show c.4354_*4375dupAAAAAAAAAAAAAAAAAAAAAA	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	41/41	4375		chr5	TogoVar
MYO10_chr5_16656907_16941288	16679524	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0111 a0001c0015t0111	a0001c0015t0111g0009 a0001c0015t0111g0009	1	272	0.0037	22	c.454 others(39): Show c.4542+422_4542+423insAAAAAAAAAAAAAAAAAAAAAA	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	33/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16823446	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0068 a0002c0008t0068	a0002c0008t0068g0141 a0002c0008t0068g0141	1	272	0.0037	22	c.121 others(39): Show c.121-5280_121-5279insCCCCCCCCCCCCCCCCCCCCCC	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16830679	G G	GCACACAC others(15): Show GCACACACACACACACACTCACA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02559.hp2 others(4): Show HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG03130.hp1 NA18906.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0038 a0002c0002 others(1): Show a0001c0001 a0001c0038 a0002c0002 a0008c0024	a0001c0001t0081 a0001c0001t0114 a0001c0038t0025 others(4): Show a0001c0001t0081 a0001c0001t0114 a0001c0038t0025 a0002c0002t0004 a0002c0002t0033 a0002c0002t0154 a0008c0024t0013	a0001c0001t0081g0246 a0001c0001t0114g0038 a0001c0038t0025g0034 others(4): Show a0001c0001t0081g0246 a0001c0001t0114g0038 a0001c0038t0025g0034 a0002c0002t0004g0119 a0002c0002t0033g0010 a0002c0002t0154g0245 a0008c0024t0013g0008	7	272	0.0257	22	c.121 others(41): Show c.121-12513_121-12512insTGTGAGTGTGTGTGTGTGTGTG	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16830679	G G	GCACACAC others(15): Show GCACACACACACACACTCACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02572.hp1 others(6): Show HG01891.hp2 HG02280.hp1 HG02572.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp2 HG03209.hp1 HG03516.hp2 NA19030.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0008 a0022	a0001c0001 a0002c0002 a0002c0026 others(3): Show a0001c0001 a0002c0002 a0002c0026 a0005c0005 a0008c0036 a0022c0045	a0001c0001t0100 a0001c0001t0101 a0002c0002t0017 others(6): Show a0001c0001t0100 a0001c0001t0101 a0002c0002t0017 a0002c0002t0026 a0002c0002t0050 a0002c0026t0152 a0005c0005t0020 a0008c0036t0017 a0022c0045t0047	a0001c0001t0100g0155 a0001c0001t0101g0156 a0002c0002t0017g0252 others(6): Show a0001c0001t0100g0155 a0001c0001t0101g0156 a0002c0002t0017g0252 a0002c0002t0026g0253 a0002c0002t0050g0255 a0002c0026t0152g0181 a0005c0005t0020g0182 a0008c0036t0017g0154 a0022c0045t0047g0031	9	272	0.0331	22	c.121 others(41): Show c.121-12513_121-12512insTGTGTGAGTGTGTGTGTGTGTG	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16830679	G G	GCACACAC others(15): Show GCACACACACACACGCTCACACA	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA19043.hp1 HG02897.hp1 NA19043.hp1	a0004 a0018 a0004 a0018	a0004c0004 a0018c0057 a0004c0004 a0018c0057	a0004c0004t0064 a0018c0057t0057 a0004c0004t0064 a0018c0057t0057	a0004c0004t0064g0084 a0018c0057t0057g0026 a0004c0004t0064g0084 a0018c0057t0057g0026	2	272	0.0074	22	c.121 others(41): Show c.121-12513_121-12512insTGTGTGAGCGTGTGTGTGTGTG	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16848155	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	272	0.0037	22	c.120 others(41): Show c.120+29453_120+29454insAAAAGAAAAAAAAAAAAAAAAA	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO15A_chr17_18103756_18184800	18113797	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0125 a0006c0008t0001g0125	1	328	0.0031	22	c.-21 others(41): Show c.-219-4762_-219-4741dupACACACACACACACACACACAC	MYO15A	ENSG00000091536.20	transcript	ENST00000647165.2	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYO16_chr13_108624611_109213005	108677335	G G	GTGTATAT others(15): Show GTGTATATATATATATATGCATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03453.hp2 HG02895.hp2 HG03453.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0013 a0001c0002 a0005c0013	a0001c0002t0015 a0005c0013t0008 a0001c0002t0015 a0005c0013t0008	a0001c0002t0015g0038 a0005c0013t0008g0040 a0001c0002t0015g0038 a0005c0013t0008g0040	2	152	0.0132	22	c.292 others(41): Show c.292+11187_292+11188insGTATATATATATATATGCATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972205	G G	GTCTCTCT others(15): Show GTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19011.hp1 HG02572.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0001c0005 a0002c0001	a0001c0005t0001 a0002c0001t0001 a0001c0005t0001 a0002c0001t0001	a0001c0005t0001g0018 a0002c0001t0001g0060 a0001c0005t0001g0018 a0002c0001t0001g0060	2	152	0.0132	22	c.236 others(41): Show c.2369+7327_2369+7348dupCTCTCTCTCTCTCTCTCTCTCT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0039 a0002c0009t0001g0039	1	152	0.0066	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0001 a0002c0052t0001	a0002c0052t0001g0094 a0002c0052t0001g0094	1	152	0.0066	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTCTATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19085.hp1 HG03669.hp2 NA19085.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0013 a0003c0004t0001 a0002c0001t0013 a0003c0004t0001	a0002c0001t0013g0136 a0003c0004t0001g0107 a0002c0001t0013g0136 a0003c0004t0001g0107	2	152	0.0132	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTCTCTATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03516.hp1 HG03834.hp1 HG03486.hp2 HG03516.hp1 HG03834.hp1	a0002 a0009 a0002 a0009	a0002c0001 a0002c0009 a0009c0040 a0002c0001 a0002c0009 a0009c0040	a0002c0001t0001 a0002c0009t0003 a0009c0040t0004 a0002c0001t0001 a0002c0009t0003 a0009c0040t0004	a0002c0001t0001g0053 a0002c0009t0003g0003 a0009c0040t0004g0121 a0002c0001t0001g0053 a0002c0009t0003g0003 a0009c0040t0004g0121	3	152	0.0197	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTCTCTCTATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0049 a0001c0008t0012g0049	1	152	0.0066	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0001 a0006c0034t0001	a0006c0034t0001g0009 a0006c0034t0001g0009	1	152	0.0066	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTCTATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0001 a0002c0070t0001	a0002c0070t0001g0063 a0002c0070t0001g0063	1	152	0.0066	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTCTCTATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp1 HG01891.hp1 HG03139.hp1	a0006 a0025 a0006 a0025	a0006c0032 a0025c0072 a0006c0032 a0025c0072	a0006c0032t0001 a0025c0072t0001 a0006c0032t0001 a0025c0072t0001	a0006c0032t0001g0030 a0025c0072t0001g0145 a0006c0032t0001g0030 a0025c0072t0001g0145	2	152	0.0132	22	c.236 others(41): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTCTCTCTAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972351	C C	CATCTATA others(15): Show CATCTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19010.hp2 HG02280.hp1 NA19010.hp2	a0001 a0021 a0001 a0021	a0001c0002 a0021c0035 a0001c0002 a0021c0035	a0001c0002t0002 a0021c0035t0001 a0001c0002t0002 a0021c0035t0001	a0001c0002t0002g0027 a0021c0035t0001g0146 a0001c0002t0002g0027 a0021c0035t0001g0146	2	152	0.0132	22	c.236 others(41): Show c.2369+7451_2369+7452insCTATATATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar

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