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
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0145 a0001c0001t0020g0145	1	308	0.0033	20	c.256 others(39): Show c.2562+5613_2562+5614insAAAATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	308	0.0033	20	c.256 others(39): Show c.2562+5613_2562+5614insAAAAAATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71966265	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03098.hp2 NA20129.hp1 others(1): Show HG02630.hp2 HG03098.hp2 NA20129.hp1 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0008c0009t0051 a0001c0001t0001 a0008c0009t0051	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0008c0009t0051g0263	4	308	0.0130	20	c.198 others(39): Show c.1986+1699_1986+1718dupACACACACACACACACACAC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	13/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71981641	G G	GTCTCTCT others(13): Show GTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0007 a0001c0011t0007	a0001c0011t0007g0012 a0001c0011t0007g0012	1	308	0.0033	20	c.172 others(39): Show c.1723-3369_1723-3350dupGAGAGAGAGAGAGAGAGAGA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	11/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	72028214	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02886.hp2 HG02004.hp2 HG02886.hp2	a0001 a0025 a0001 a0025	a0001c0002 a0025c0031 a0001c0002 a0025c0031	a0001c0002t0004 a0025c0031t0021 a0001c0002t0004 a0025c0031t0021	a0001c0002t0004g0069 a0025c0031t0021g0017 a0001c0002t0004g0069 a0025c0031t0021g0017	2	308	0.0065	20	c.936 others(35): Show c.936-422_936-421insATATATATATATATATATAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	3/41			chr15	TogoVar
MYO9B_chr19_17070777_17218286	17121444	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0045 a0001c0060t0001g0045	1	262	0.0038	20	c.840 others(39): Show c.840+18888_840+18907dupATATATATATATATATATAT	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYO9B_chr19_17070777_17218286	17197445	T T	TACATAGA others(13): Show TACATAGATAGATAGATAGAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01891.hp2 others(4): Show HG01167.hp2 HG01169.hp1 HG01891.hp2 HG02055.hp1 HG02615.hp1 HG02647.hp1 HG03579.hp1	a0003 a0005 a0010 others(1): Show a0003 a0005 a0010 a0026	a0003c0006 a0005c0057 a0010c0017 others(1): Show a0003c0006 a0005c0057 a0010c0017 a0026c0033	a0003c0006t0003 a0005c0057t0005 a0010c0017t0001 others(1): Show a0003c0006t0003 a0005c0057t0005 a0010c0017t0001 a0026c0033t0007	a0003c0006t0003g0013 a0003c0006t0003g0165 a0003c0006t0003g0166 others(4): Show a0003c0006t0003g0013 a0003c0006t0003g0165 a0003c0006t0003g0166 a0003c0006t0003g0177 a0005c0057t0005g0178 a0010c0017t0001g0050 a0026c0033t0007g0187	7	262	0.0267	20	c.404 others(37): Show c.4047-346_4047-345insCATAGATAGATAGATAGACA	MYO9B	ENSG00000099331.14	transcript	ENST00000682292.1	protein_coding	22/39		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOCD_chr17_12660890_12773949	12660968	C C	CGTGCGTG others(13): Show CGTGCGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA18954.hp2 NA18979.hp1 others(4): Show HG02155.hp2 NA18954.hp2 NA18979.hp1 NA18983.hp1 NA18987.hp2 NA18995.hp1 NA19080.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0025 a0001c0001 a0001c0002 a0013c0025	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0027 a0001c0001t0080 a0001c0002t0152 a0013c0025t0003	a0001c0001t0002g0244 a0001c0001t0011g0235 a0001c0001t0019g0147 others(4): Show a0001c0001t0002g0244 a0001c0001t0011g0235 a0001c0001t0019g0147 a0001c0001t0027g0245 a0001c0001t0080g0228 a0001c0002t0152g0162 a0013c0025t0003g0152	7	346	0.0202	20	c.-52 others(31): Show c.-5221_-5220insGTGCGTGTGTGTGTGTGTGT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		4921		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12663502	G G	GCACACAC others(13): Show GCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 NA18981.hp1 HG01256.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0172 a0001c0001t0001 a0001c0001t0172	a0001c0001t0001g0027 a0001c0001t0172g0263 a0001c0001t0001g0027 a0001c0001t0172g0263	2	346	0.0058	20	c.-26 others(31): Show c.-2687_-2686insCACACACACACACACACACA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding		2387		chr17	TogoVar
MYOCD_chr17_12660890_12773949	12714323	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0177 a0001c0001t0177	a0001c0001t0177g0043 a0001c0001t0177g0043	1	346	0.0029	20	c.122 others(37): Show c.122-1176_122-1157dupACACACACACACACACACAC	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12749707	G G	GTGTATAT others(13): Show GTGTATATATATATACATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01346.hp2 others(12): Show HG00642.hp1 HG01081.hp2 HG01346.hp2 HG01993.hp2 HG02055.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp2 HG06807.hp1 NA20905.hp1	a0001 a0012 a0017 a0001 a0012 a0017	a0001c0001 a0001c0003 a0012c0019 others(1): Show a0001c0001 a0001c0003 a0012c0019 a0017c0020	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0042 a0001c0001t0064 a0001c0003t0048 a0001c0003t0113 a0012c0019t0009 a0017c0020t0199	a0001c0001t0001g0051 a0001c0001t0001g0136 a0001c0001t0001g0176 others(12): Show a0001c0001t0001g0051 a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0009g0326 a0001c0001t0010g0223 a0001c0001t0010g0230 a0001c0001t0010g0231 a0001c0001t0013g0008 a0001c0001t0042g0224 a0001c0001t0064g0330 a0001c0003t0048g0134 a0001c0003t0113g0035 a0012c0019t0009g0331 a0017c0020t0199g0225	15	346	0.0434	20	c.112 others(39): Show c.1126-2696_1126-2695insATACATATATGTATATATAT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12749709	G G	GTATATAT others(13): Show GTATATATATACATATATGTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00423.hp1 others(104): Show HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19065.hp1 NA19065.hp2 NA19080.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0011 a0015	a0001c0001 a0001c0003 a0001c0006 others(4): Show a0001c0001 a0001c0003 a0001c0006 a0003c0008 a0005c0012 a0011c0026 a0015c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(76): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0058 a0001c0001t0074 a0001c0001t0078 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0107 a0001c0001t0108 a0001c0001t0126 a0001c0001t0129 a0001c0001t0131 a0001c0001t0132 a0001c0001t0134 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0149 a0001c0001t0150 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0160 a0001c0001t0161 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0170 a0001c0001t0171 a0001c0001t0184 a0001c0003t0185 a0001c0006t0093 a0003c0008t0070 a0003c0008t0071 a0003c0008t0112 a0005c0012t0028 a0011c0026t0025 a0015c0023t0013	a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0058 others(103): Show a0001c0001t0001g0027 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0089 a0001c0001t0001g0124 a0001c0001t0001g0181 a0001c0001t0001g0206 a0001c0001t0001g0261 a0001c0001t0001g0343 a0001c0001t0002g0018 a0001c0001t0002g0090 a0001c0001t0002g0108 a0001c0001t0002g0119 a0001c0001t0002g0157 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0003g0093 a0001c0001t0003g0150 a0001c0001t0004g0085 a0001c0001t0004g0277 a0001c0001t0005g0054 a0001c0001t0005g0095 a0001c0001t0005g0127 a0001c0001t0005g0232 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0098 a0001c0001t0006g0118 a0001c0001t0006g0250 a0001c0001t0007g0088 a0001c0001t0008g0131 a0001c0001t0008g0137 a0001c0001t0009g0328 a0001c0001t0013g0338 a0001c0001t0014g0064 a0001c0001t0014g0107 a0001c0001t0014g0111 a0001c0001t0017g0046 a0001c0001t0020g0288 a0001c0001t0021g0251 a0001c0001t0023g0203 a0001c0001t0024g0290 a0001c0001t0025g0297 a0001c0001t0027g0245 a0001c0001t0029g0029 a0001c0001t0030g0034 a0001c0001t0031g0146 a0001c0001t0032g0156 a0001c0001t0033g0243 a0001c0001t0037g0094 a0001c0001t0038g0024 a0001c0001t0039g0138 a0001c0001t0040g0256 a0001c0001t0041g0055 a0001c0001t0047g0158 a0001c0001t0058g0323 a0001c0001t0074g0265 a0001c0001t0078g0023 a0001c0001t0085g0092 a0001c0001t0087g0103 a0001c0001t0088g0022 a0001c0001t0089g0084 a0001c0001t0094g0212 a0001c0001t0096g0110 a0001c0001t0097g0081 a0001c0001t0099g0259 a0001c0001t0107g0097 a0001c0001t0108g0171 a0001c0001t0126g0341 a0001c0001t0129g0168 a0001c0001t0131g0153 a0001c0001t0132g0101 a0001c0001t0134g0025 a0001c0001t0137g0056 a0001c0001t0138g0053 a0001c0001t0139g0151 a0001c0001t0140g0132 a0001c0001t0143g0015 a0001c0001t0144g0066 a0001c0001t0145g0191 a0001c0001t0146g0186 a0001c0001t0149g0019 a0001c0001t0150g0237 a0001c0001t0153g0227 a0001c0001t0154g0182 a0001c0001t0155g0120 a0001c0001t0156g0010 a0001c0001t0157g0028 a0001c0001t0160g0030 a0001c0001t0161g0125 a0001c0001t0165g0057 a0001c0001t0166g0217 a0001c0001t0167g0189 a0001c0001t0168g0197 a0001c0001t0170g0202 a0001c0001t0171g0260 a0001c0001t0184g0135 a0001c0003t0185g0303 a0001c0006t0093g0294 a0003c0008t0070g0226 a0003c0008t0071g0304 a0003c0008t0112g0305 a0005c0012t0028g0003 a0011c0026t0025g0017 a0015c0023t0013g0005	107	346	0.3093	20	c.112 others(39): Show c.1126-2696_1126-2695insACATATATGTATATATATAT	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOCD_chr17_12660890_12773949	12749717	A A	ATACATAT others(13): Show ATACATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0200 a0001c0001t0200	a0001c0001t0200g0287 a0001c0001t0200g0287	1	346	0.0029	20	c.112 others(39): Show c.1126-2696_1126-2695insACATATATGTATATATATGT	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(13): Show ACTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01175.hp1 HG01192.hp1 others(1): Show HG01123.hp1 HG01175.hp1 HG01192.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0161 a0001c0003t0002g0173	4	240	0.0167	20	c.340 others(37): Show c.3404-798_3404-779dupAGAGAGAGAGAGAGAGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93369110	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	240	0.0042	20	c.258 others(37): Show c.2589+515_2589+534dupAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	25/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	240	0.0083	20	c.200 others(39): Show c.2001+1150_2001+1169dupTATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03471.hp2 HG02165.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0013 a0001c0002 a0002c0013	a0001c0002t0001 a0002c0013t0001 a0001c0002t0001 a0002c0013t0001	a0001c0002t0001g0038 a0002c0013t0001g0105 a0001c0002t0001g0038 a0002c0013t0001g0105	2	240	0.0083	20	c.200 others(39): Show c.2001+1169_2001+1170insTATATATATATATATACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02165.hp1 HG02523.hp2 others(1): Show HG02129.hp2 HG02165.hp1 HG02523.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0002g0186 a0001c0002t0001g0106 others(1): Show a0001c0001t0001g0124 a0001c0001t0002g0186 a0001c0002t0001g0106 a0001c0002t0001g0108	4	240	0.0167	20	c.200 others(39): Show c.2001+1169_2001+1170insTATATATATATATACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93378693	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02698.hp2 HG02622.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0042 a0001c0001 a0001c0042	a0001c0001t0001 a0001c0042t0001 a0001c0001t0001 a0001c0042t0001	a0001c0001t0001g0047 a0001c0042t0001g0042 a0001c0001t0001g0047 a0001c0042t0001g0042	2	240	0.0083	20	c.200 others(39): Show c.2001+1169_2001+1170insTATATATATATACACACACA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	21/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93394448	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	240	0.0042	20	c.141 others(39): Show c.1418-1513_1418-1494dupAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	16/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406286	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG03669.hp1 HG01123.hp1 HG01123.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0128 a0001c0001t0001g0019 a0001c0001t0001g0070 a0001c0001t0001g0128	3	240	0.0125	20	c.730 others(37): Show c.730-2068_730-2067insTATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG02129.hp1 others(3): Show HG00673.hp2 HG01255.hp2 HG02129.hp1 HG02970.hp1 NA18962.hp2 NA20300.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0005 a0001c0012 others(3): Show a0001c0002 a0001c0005 a0001c0012 a0001c0058 a0002c0011 a0008c0032	a0001c0002t0001 a0001c0005t0002 a0001c0012t0001 others(3): Show a0001c0002t0001 a0001c0005t0002 a0001c0012t0001 a0001c0058t0002 a0002c0011t0002 a0008c0032t0001	a0001c0002t0001g0091 a0001c0005t0002g0184 a0001c0012t0001g0149 others(3): Show a0001c0002t0001g0091 a0001c0005t0002g0184 a0001c0012t0001g0149 a0001c0058t0002g0189 a0002c0011t0002g0167 a0008c0032t0001g0027	6	240	0.0250	20	c.730 others(37): Show c.730-2089_730-2070dupTATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TTTTATAT others(13): Show TTTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0223 a0001c0009t0003g0223	1	240	0.0042	20	c.730 others(37): Show c.730-2070_730-2069insTATATATATATATATATAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93482835	G G	GTATAAAT others(13): Show GTATAAATAATTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0031 a0001c0018t0001g0031	1	240	0.0042	20	c.-64 others(29): Show c.-642_-641insTATATATATAATTATTTATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		502		chr10	TogoVar
MYOF_chr10_93301429_93487334	93482844	A A	ATTATATA others(13): Show ATTATATATATATATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01175.hp2 others(4): Show HG00639.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01891.hp2 HG01978.hp2 HG03669.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0051 a0005c0020 a0012c0022	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0051t0001 a0005c0020t0001 a0012c0022t0001	a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0002t0001g0162 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0088 a0001c0002t0001g0162 a0001c0003t0001g0116 a0001c0051t0001g0059 a0005c0020t0001g0052 a0012c0022t0001g0055	7	240	0.0292	20	c.-65 others(29): Show c.-651_-650insAATTATATATATATATATAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		511		chr10	TogoVar
MYOG_chr1_203078129_203091012	203084195	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01243.hp1 HG01358.hp2 others(13): Show HG00099.hp2 HG01243.hp1 HG01358.hp2 HG01993.hp2 HG02004.hp1 HG02559.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG03491.hp2 HG03710.hp1 NA18906.hp1 NA18960.hp2 NA18993.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023	a0001c0001t0001g0007 a0001c0001t0008g0073 a0001c0001t0012g0120 others(2): Show a0001c0001t0001g0007 a0001c0001t0008g0073 a0001c0001t0012g0120 a0001c0001t0014g0072 a0001c0001t0023g0052	16	460	0.0348	20	c.554 others(35): Show c.554-184_554-165dupACACACACACACACACACAC	MYOG	ENSG00000122180.5	transcript	ENST00000241651.5	protein_coding	2/2			chr1	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG03139.hp2 HG01106.hp1 HG03139.hp2	a0004 a0043 a0004 a0043	a0004c0045 a0043c0091 a0004c0045 a0043c0091	a0004c0045t0001 a0043c0091t0001 a0004c0045t0001 a0043c0091t0001	a0004c0045t0001g0122 a0043c0091t0001g0190 a0004c0045t0001g0122 a0043c0091t0001g0190	2	330	0.0061	20	c.27 others(31): Show c.2727_*2728insTATATATATATATATATATA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM1_chr18_3061807_3224968	3114544	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0007 a0007	a0007c0151 a0007c0151	a0007c0151t0001 a0007c0151t0001	a0007c0151t0001g0079 a0007c0151t0001g0079	1	330	0.0030	20	c.330 others(39): Show c.3303+1767_3303+1786dupAAAAAAAAAAAAAAAAAAAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	21/37			chr18	TogoVar
MYOM1_chr18_3061807_3224968	3127282	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02135.hp2 HG02818.hp1 others(2): Show HG01168.hp1 HG02135.hp2 HG02818.hp1 HG03130.hp1 NA18974.hp2	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0019	a0003c0004 a0004c0113 a0004c0125 others(2): Show a0003c0004 a0004c0113 a0004c0125 a0008c0024 a0019c0170	a0003c0004t0003 a0004c0113t0003 a0004c0125t0001 others(2): Show a0003c0004t0003 a0004c0113t0003 a0004c0125t0001 a0008c0024t0003 a0019c0170t0001	a0003c0004t0003g0265 a0004c0113t0003g0211 a0004c0125t0001g0006 others(2): Show a0003c0004t0003g0265 a0004c0113t0003g0211 a0004c0125t0001g0006 a0008c0024t0003g0262 a0019c0170t0001g0184	5	330	0.0152	20	c.279 others(37): Show c.2795-405_2795-386dupATATATATATATATATATAT	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	18/37			chr18	TogoVar
MYOM1_chr18_3061807_3224968	3127305	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0048 a0048	a0048c0105 a0048c0105	a0048c0105t0003 a0048c0105t0003	a0048c0105t0003g0261 a0048c0105t0003g0261	1	330	0.0030	20	c.279 others(37): Show c.2795-409_2795-408insAATATATATATATATATATA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	18/37			chr18	TogoVar
MYOM3_chr1_24051041_24117135	24067297	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0034 a0034	a0034c0081 a0034c0081	a0034c0081t0009 a0034c0081t0009	a0034c0081t0009g0208 a0034c0081t0009g0208	1	364	0.0028	20	c.335 others(37): Show c.3356-210_3356-209insGGAAGGAAGGAAGGAAGGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOT_chr5_137862860_137892851	137863804	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG01496.hp2 others(6): Show HG00323.hp2 HG00597.hp2 HG01496.hp2 HG02027.hp1 HG02559.hp1 HG03225.hp1 HG03834.hp1 NA18961.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0067 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0134 a0001c0001t0001g0223 a0001c0001t0001g0224	9	352	0.0256	20	c.-43 others(31): Show c.-4361_-4360insACACACACACACACACACAC	MYOT	ENSG00000120729.10	transcript	ENST00000239926.9	protein_coding		4055		chr5	TogoVar
MYOZ1_chr10_73626612_73646474	73628261	T T	TATATATA others(13): Show TATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	386	0.0026	20	c.36 others(31): Show c.3668_*3669insGTATATATATATATATATAT	MYOZ1	ENSG00000177791.12	transcript	ENST00000359322.5	protein_coding		3350		chr10	TogoVar
MYOZ1_chr10_73626612_73646474	73638668	T T	TTATTTAT others(13): Show TTATTTATGTATTTATTTATG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	386	0.0026	20	c.74- others(33): Show c.74-747_74-746insCATAAATAAATACATAAATA	MYOZ1	ENSG00000177791.12	transcript	ENST00000359322.5	protein_coding	2/5			chr10	TogoVar
MYOZ1_chr10_73626612_73646474	73638668	T T	TTATTTAT others(13): Show TTATTTATTTATTTATTTATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03453.hp2 NA18981.hp1 others(1): Show HG00621.hp2 HG03453.hp2 NA18981.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071	4	386	0.0104	20	c.74- others(33): Show c.74-747_74-746insCATAAATAAATAAATAAATA	MYOZ1	ENSG00000177791.12	transcript	ENST00000359322.5	protein_coding	2/5			chr10	TogoVar
MYOZ3_chr5_150656251_150684368	150675226	T T	TTGTGTGC others(13): Show TTGTGTGCGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02451.hp1 others(8): Show HG01891.hp2 HG02145.hp1 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA20129.hp1 NA20129.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0002 a0005c0006t0002 a0002c0002t0002 a0005c0006t0002	a0002c0002t0002g0034 a0002c0002t0002g0057 a0002c0002t0002g0070 others(6): Show a0002c0002t0002g0034 a0002c0002t0002g0057 a0002c0002t0002g0070 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0224 a0002c0002t0002g0234 a0005c0006t0002g0068	11	394	0.0279	20	c.588 others(37): Show c.588-1475_588-1474insCGTGTGTGTGTGTGTGTGTG	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYOZ3_chr5_150656251_150684368	150683495	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0050 a0002c0004t0002g0050	1	394	0.0025	20	c.66 others(31): Show c.6620_*6621insAAAAGAAAAGAAAAGAAAAG	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding		4128		chr5	TogoVar
MYPN_chr10_68104488_68217017	68118877	T T	TGAAGGAA others(13): Show TGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0222 a0003c0004t0001g0222	1	306	0.0033	20	c.-1- others(35): Show c.-1-2529_-1-2510dupGGAAGGAAGGAAGGAAGGAA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYPOP_chr19_45885023_45907613	45899732	C C	CAGGAGGC others(13): Show CAGGAGGCTGAGGCAGGAGAA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0184 a0002c0005t0001g0184	1	408	0.0025	20	c.499 others(37): Show c.499+1523_499+1542dupTTCTCCTGCCTCAGCCTCCT	MYPOP	ENSG00000176182.6	transcript	ENST00000322217.6	protein_coding	2/2			chr19	TogoVar
MYRFL_chr12_69820227_69964097	69891561	A A	ATTTCTTT others(13): Show ATTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp2 others(23): Show HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG01106.hp1 HG01496.hp2 HG01928.hp1 HG02258.hp2 HG02970.hp2 HG03516.hp1 HG03927.hp2 NA18522.hp1 NA18948.hp2 NA18950.hp1 NA18968.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA19001.hp1 NA19010.hp1 NA19030.hp2 NA19089.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0011 a0002c0027 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0002t0002 a0002c0002t0003 a0002c0011t0002 a0002c0027t0002 a0005c0008t0004	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 others(23): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0296 a0001c0001t0003g0096 a0001c0003t0001g0138 a0001c0003t0001g0277 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0055 a0002c0002t0002g0057 a0002c0002t0002g0162 a0002c0002t0002g0164 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0003g0131 a0002c0002t0003g0137 a0002c0002t0003g0140 a0002c0011t0002g0237 a0002c0027t0002g0183 a0005c0008t0004g0303	26	322	0.0808	20	c.903 others(35): Show c.903+421_903+440dupTTCTTTCTTTCTTTCTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891635	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 NA18522.hp1 others(3): Show HG02258.hp2 HG02809.hp1 NA18522.hp1 NA18948.hp2 NA19030.hp1 NA19089.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0008 a0002c0002 a0003c0004 a0005c0008	a0002c0002t0002 a0003c0004t0001 a0005c0008t0004 a0002c0002t0002 a0003c0004t0001 a0005c0008t0004	a0002c0002t0002g0164 a0002c0002t0002g0174 a0002c0002t0002g0185 others(3): Show a0002c0002t0002g0164 a0002c0002t0002g0174 a0002c0002t0002g0185 a0003c0004t0001g0247 a0005c0008t0004g0230 a0005c0008t0004g0303	6	322	0.0186	20	c.903 others(35): Show c.903+470_903+471insCTTTCTTTCTTTCTTTCTTT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01109.hp1 others(15): Show HG00639.hp2 HG00741.hp2 HG01109.hp1 HG01433.hp2 HG01517.hp2 HG02040.hp2 HG02083.hp2 HG02273.hp1 HG02602.hp1 HG03209.hp2 HG04199.hp2 NA18906.hp1 NA18939.hp2 NA18968.hp2 NA19010.hp2 NA19054.hp2 NA19064.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0011 a0003c0004 a0003c0006 a0004c0007 a0019c0017	a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 others(8): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0002c0011t0001 a0003c0004t0001 a0003c0004t0003 a0003c0006t0001 a0004c0007t0001 a0019c0017t0001	a0001c0001t0001g0119 a0001c0001t0001g0206 a0001c0003t0001g0133 others(14): Show a0001c0001t0001g0119 a0001c0001t0001g0206 a0001c0003t0001g0133 a0002c0002t0002g0194 a0002c0002t0003g0132 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0204 a0002c0002t0003g0219 a0002c0005t0002g0001 a0002c0011t0001g0240 a0003c0004t0001g0082 a0003c0004t0003g0158 a0003c0006t0001g0129 a0003c0006t0001g0190 a0004c0007t0001g0113 a0019c0017t0001g0196	18	322	0.0559	20	c.903 others(35): Show c.903+500_903+519dupTTTCTTTCTTTCTTTCTTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891682	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCGTTCG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19030.hp2 NA19003.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0096 a0001c0003t0001g0011 a0001c0001t0003g0096 a0001c0003t0001g0011	2	322	0.0062	20	c.903 others(35): Show c.903+519_903+520insTTTCTTTCTTTCGTTCGTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891682	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01074.hp2 HG01975.hp2 others(4): Show HG00438.hp1 HG01074.hp2 HG01975.hp2 HG01978.hp1 HG02080.hp1 HG02723.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0005t0002	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0227 others(4): Show a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0227 a0001c0001t0002g0157 a0002c0002t0002g0020 a0002c0005t0002g0017 a0002c0005t0002g0031	7	322	0.0217	20	c.903 others(35): Show c.903+519_903+520insTTTCTTTCTTTCTTTCGTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	39857251	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp1 HG01123.hp1 others(29): Show HG00099.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01884.hp1 HG02027.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03704.hp2 NA18612.hp1 NA18906.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0020 a0002c0012 a0003c0003 a0003c0007 a0006c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0002t0002 a0001c0004t0003 a0001c0006t0002 a0001c0020t0004 a0002c0012t0006 a0003c0003t0002 a0003c0007t0001 a0006c0016t0008	a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0058 others(29): Show a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0047 a0001c0001t0003g0138 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0009g0136 a0001c0001t0015g0029 a0001c0002t0002g0105 a0001c0002t0002g0141 a0001c0002t0002g0149 a0001c0004t0003g0023 a0001c0004t0003g0165 a0001c0006t0002g0019 a0001c0020t0004g0140 a0002c0012t0006g0087 a0002c0012t0006g0091 a0002c0012t0006g0092 a0003c0003t0002g0072 a0003c0003t0002g0145 a0003c0007t0001g0049 a0003c0007t0001g0130 a0006c0016t0008g0028	32	170	0.1882	20	c.-30 others(39): Show c.-30-43533_-30-43532insAAGGAAGGAAGGAAGGAAGG	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	39857255	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG02647.hp2 HG00323.hp1 HG01123.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0009g0161 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0001t0009g0161 a0001c0002t0002g0150 a0001c0002t0002g0151	3	170	0.0177	20	c.-30 others(39): Show c.-30-43526_-30-43507dupGGAAGGAAGGAAGGAAGGAA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40060596	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA20300.hp2 HG01074.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0024 a0002c0008t0001g0032 a0001c0001t0001g0024 a0002c0008t0001g0032	2	170	0.0118	20	c.332 others(39): Show c.332+16328_332+16347dupGAGAGAGAGAGAGAGAGAGA	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(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0131	1	170	0.0059	20	c.333 others(39): Show c.333-52288_333-52269dupGTGTGTGTGTGTGTGTGTGT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40251231	C C	CTTGGTTC others(13): Show CTTGGTTCTGCTATTGATCAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp2 HG02683.hp2 HG03688.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0010 a0005c0013t0010	a0005c0013t0010g0078 a0005c0013t0010g0133 a0005c0013t0010g0078 a0005c0013t0010g0133	2	170	0.0118	20	c.242 others(37): Show c.2429-647_2429-628dupGGTTCTGCTATTGATCATTT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01070.hp2 others(17): Show HG00280.hp1 HG00735.hp2 HG01070.hp2 HG02273.hp1 HG02300.hp1 HG02970.hp2 HG03098.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 NA18747.hp2 NA18978.hp2 NA18981.hp1 NA18985.hp2 NA18994.hp2 NA18999.hp1 NA19007.hp1 NA19072.hp2 NA19089.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0036 a0001c0001t0056 a0003c0003t0003 a0003c0003t0065	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0161 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0161 a0001c0001t0001g0209 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0004g0156 a0001c0001t0008g0041 a0001c0001t0008g0178 a0001c0001t0036g0044 a0001c0001t0056g0267 a0003c0003t0003g0001 a0003c0003t0003g0004 a0003c0003t0003g0027 a0003c0003t0003g0276 a0003c0003t0003g0305 a0003c0003t0003g0328 a0003c0003t0065g0293	20	410	0.0488	20	c.85 others(31): Show c.8570_*8589dupACACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar

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