Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
MYO1B_chr2_191240404_191430386	191260254	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	61	0.0164	27	c.-10 others(46): Show c.-10+14641_-10+14642insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1D_chr17_32487522_32882124	32818125	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01175.hp2 others(3): Show HG00140.hp2 HG00642.hp2 HG01175.hp2 HG01981.hp1 HG02148.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0067 a0001c0001t0003g0075 a0001c0001t0003g0095 others(3): Show a0001c0001t0001g0067 a0001c0001t0003g0075 a0001c0001t0003g0095 a0001c0001t0010g0094 a0001c0001t0012g0047 a0001c0001t0014g0062	6	73	0.0822	27	c.96- others(44): Show c.96-37342_96-37341insTTTTTTTTTTTTTTTTTTTTTTTTTTT	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	1/21			chr17	TogoVar
MYO1E_chr15_59127434_59377871	59253901	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0067 a0001c0002t0041g0067	1	70	0.0143	27	c.332 others(44): Show c.332+2382_332+2383insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	4/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(20): Show CTTTTTTTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0013 a0001c0001t0014g0013	1	25	0.0400	27	c.4-4 others(42): Show c.4-47102_4-47101insAAAAAAAAAAAAAAAAAGAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1F_chr19_8515778_8582442	8543687	G G	GTGGTGCT others(20): Show GTGGTGCTGGTGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp2 HG03486.hp1 others(3): Show HG02895.hp2 HG03098.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0131 a0001c0001t0003g0218 a0001c0001t0003g0220 others(3): Show a0001c0001t0001g0131 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0007g0341	6	326	0.0184	27	c.152 others(44): Show c.1524+609_1524+610insGCACCACCAGCACCACCACCAGCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543795	G G	GTGGTGGT others(20): Show GTGGTGGTGCTGGTGGTGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	325	0.0031	27	c.152 others(44): Show c.1524+501_1524+502insGCACCACCACCACCACCAGCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543801	C C	CTGGTGCT others(20): Show CTGGTGCTGGTGGTGCTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	209	0.0048	27	c.152 others(44): Show c.1524+495_1524+496insCCACCACCACCAGCACCACCAGCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543804	G G	GTGGTGGT others(20): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0167 a0002c0004t0003g0167	1	336	0.0030	27	c.152 others(44): Show c.1524+492_1524+493insGCACCACCACCACCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8581130	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0295 a0001c0001t0006g0295	1	31	0.0323	27	c.-38 others(38): Show c.-3848_-3822dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding		3689		chr19	TogoVar
MYO1G_chr7_44957662_44984015	44961499	T T	TGAGGGCT others(20): Show TGAGGGCTGAGGGAGCTGAGGGGGCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0105 a0002c0006t0001g0105	1	376	0.0027	27	c.12 others(38): Show c.1239_*1240insTCAGCCCCCTCAGCTCCCTCAGCCCTC	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		1162		chr7	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03239.hp2 HG02896.hp2 HG03239.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0024 a0001c0006 a0004c0024	a0001c0006t0001 a0004c0024t0003 a0001c0006t0001 a0004c0024t0003	a0001c0006t0001g0301 a0004c0024t0003g0145 a0001c0006t0001g0301 a0004c0024t0003g0145	2	73	0.0274	27	c.194 others(44): Show c.1949+324_1949+325insAAAAAAAAATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0213 a0001c0004t0001g0213	1	72	0.0139	27	c.194 others(44): Show c.1949+324_1949+325insAAAAAAATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0152 a0002c0001t0001g0152	1	72	0.0139	27	c.194 others(44): Show c.1949+324_1949+325insAAAAATATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG03098.hp1 others(1): Show HG00621.hp1 HG00673.hp1 HG03098.hp1 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0001c0005 a0002c0001	a0001c0005t0001 a0002c0001t0001 a0001c0005t0001 a0002c0001t0001	a0001c0005t0001g0251 a0002c0001t0001g0154 a0002c0001t0001g0165 others(1): Show a0001c0005t0001g0251 a0002c0001t0001g0154 a0002c0001t0001g0165 a0002c0001t0001g0172	4	75	0.0533	27	c.194 others(44): Show c.1949+324_1949+325insAAATATATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01167.hp2 others(2): Show HG00642.hp2 HG00735.hp1 HG01167.hp2 HG02055.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0007 a0002c0001t0001 a0001c0004t0007 a0002c0001t0001	a0001c0004t0007g0206 a0001c0004t0007g0245 a0002c0001t0001g0103 others(2): Show a0001c0004t0007g0206 a0001c0004t0007g0245 a0002c0001t0001g0103 a0002c0001t0001g0116 a0002c0001t0001g0162	5	76	0.0658	27	c.194 others(44): Show c.1949+324_1949+325insATATATATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO3A_chr10_25929229_26217532	26062530	A A	AAAAAAAC others(20): Show AAAAAAACAAAAAAAACAAAAAAAAACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(75): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18953.hp2 NA18962.hp2 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18988.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp2 NA19030.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1	a0002 a0004 a0006 others(4): Show a0002 a0004 a0006 a0010 a0016 a0019 a0025	a0002c0001 a0002c0025 a0004c0017 others(5): Show a0002c0001 a0002c0025 a0004c0017 a0006c0006 a0010c0011 a0016c0023 a0019c0024 a0025c0044	a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 others(8): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0025t0002 a0004c0017t0011 a0006c0006t0001 a0010c0011t0002 a0016c0023t0003 a0019c0024t0001 a0025c0044t0004	a0002c0001t0001g0003 a0002c0001t0001g0107 a0002c0001t0001g0115 others(75): Show a0002c0001t0001g0003 a0002c0001t0001g0107 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0121 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0146 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0002g0101 a0002c0001t0002g0102 a0002c0001t0002g0103 a0002c0001t0002g0104 a0002c0001t0002g0105 a0002c0001t0002g0106 a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0110 a0002c0001t0002g0112 a0002c0001t0002g0113 a0002c0001t0002g0114 a0002c0001t0002g0117 a0002c0001t0002g0118 a0002c0001t0002g0119 a0002c0001t0002g0120 a0002c0001t0002g0122 a0002c0001t0002g0123 a0002c0001t0002g0125 a0002c0001t0002g0126 a0002c0001t0002g0127 a0002c0001t0002g0128 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0131 a0002c0001t0002g0133 a0002c0001t0002g0134 a0002c0001t0002g0137 a0002c0001t0002g0138 a0002c0001t0002g0145 a0002c0001t0002g0147 a0002c0001t0002g0148 a0002c0001t0002g0149 a0002c0001t0002g0150 a0002c0001t0002g0154 a0002c0001t0002g0155 a0002c0001t0002g0157 a0002c0001t0002g0162 a0002c0001t0002g0163 a0002c0001t0002g0219 a0002c0001t0002g0220 a0002c0001t0003g0144 a0002c0001t0004g0132 a0002c0025t0002g0141 a0004c0017t0011g0025 a0004c0017t0011g0026 a0006c0006t0001g0014 a0006c0006t0001g0015 a0006c0006t0001g0016 a0006c0006t0001g0017 a0006c0006t0001g0018 a0006c0006t0001g0019 a0006c0006t0001g0020 a0010c0011t0002g0095 a0010c0011t0002g0097 a0010c0011t0002g0098 a0010c0011t0002g0099 a0016c0023t0003g0111 a0019c0024t0001g0100 a0025c0044t0004g0096	78	259	0.3012	27	c.954 others(44): Show c.954-4442_954-4441insAAACAAAAAAAACAAAAAAAAACGAAA	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYO3B_chr2_170173147_170660167	170650939	C C	CCCAAAGT others(20): Show CCCAAAGTGCTGGGATTACAGACGTGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01515.hp2 HG01891.hp2 others(13): Show HG01192.hp1 HG01515.hp2 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02970.hp1 HG03041.hp1 HG03239.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0009 a0016 a0019 a0021 a0022 a0025	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006 a0002c0018 a0004c0013 a0006c0021 a0006c0058 a0009c0016 a0009c0020 a0016c0065 a0019c0034 a0021c0074 a0022c0035 a0025c0031	a0001c0001t0006 a0001c0001t0011 a0001c0002t0010 others(13): Show a0001c0001t0006 a0001c0001t0011 a0001c0002t0010 a0001c0004t0006 a0002c0006t0014 a0002c0018t0006 a0004c0013t0011 a0006c0021t0024 a0006c0058t0021 a0009c0016t0006 a0009c0020t0006 a0016c0065t0023 a0019c0034t0014 a0021c0074t0008 a0022c0035t0008 a0025c0031t0008	a0001c0001t0006g0134 a0001c0001t0011g0039 a0001c0002t0010g0138 others(13): Show a0001c0001t0006g0134 a0001c0001t0011g0039 a0001c0002t0010g0138 a0001c0004t0006g0014 a0002c0006t0014g0006 a0002c0018t0006g0086 a0004c0013t0011g0163 a0006c0021t0024g0082 a0006c0058t0021g0131 a0009c0016t0006g0007 a0009c0020t0006g0080 a0016c0065t0023g0126 a0019c0034t0014g0159 a0021c0074t0008g0113 a0022c0035t0008g0085 a0025c0031t0008g0160	16	172	0.0930	27	c.373 others(44): Show c.3734-686_3734-685insAAGTGCTGGGATTACAGACGTGAGCCA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG03209.hp1 others(2): Show HG02486.hp1 HG02615.hp1 HG03209.hp1 NA18906.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0022 a0001c0001 a0001c0003 a0001c0022	a0001c0001t0001 a0001c0001t0009 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0004 a0001c0022t0016	a0001c0001t0001g0193 a0001c0001t0001g0229 a0001c0001t0009g0222 others(2): Show a0001c0001t0001g0193 a0001c0001t0001g0229 a0001c0001t0009g0222 a0001c0003t0004g0039 a0001c0022t0016g0271	5	35	0.1429	27	c.220 others(46): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT T	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5C_chr15_52187322_52300804	52291731	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp1 HG03471.hp2 NA18906.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0040 a0006c0009t0002 a0001c0001t0040 a0006c0009t0002	a0001c0001t0040g0350 a0006c0009t0002g0349 a0001c0001t0040g0350 a0006c0009t0002g0349	2	126	0.0159	27	c.27+ others(42): Show c.27+3878_27+3879insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40			chr15	TogoVar
MYO6_chr6_75744239_75924537	75924500	A A	ATATAATA others(20): Show ATATAATATAATTAATATAATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01192.hp1 others(12): Show HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG02559.hp1 HG03017.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03688.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0013 a0001c0001 a0001c0003 a0005c0013	a0001c0001t0003 a0001c0001t0020 a0001c0001t0029 others(6): Show a0001c0001t0003 a0001c0001t0020 a0001c0001t0029 a0001c0001t0101 a0001c0001t0105 a0001c0001t0113 a0001c0001t0117 a0001c0003t0092 a0005c0013t0003	a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 others(12): Show a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0089 a0001c0001t0020g0103 a0001c0001t0020g0314 a0001c0001t0029g0151 a0001c0001t0101g0129 a0001c0001t0105g0204 a0001c0001t0113g0184 a0001c0001t0117g0343 a0001c0003t0092g0152 a0005c0013t0003g0045	15	356	0.0421	27	c.94 others(38): Show c.9488_*9489insTATAATATAATTAATATAATTATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding		4964		chr6	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0022 a0007c0009t0022	a0007c0009t0022g0263 a0007c0009t0022g0263	1	153	0.0065	27	c.268 others(46): Show c.2686-1753_2686-1752insAAAAAAAAAAAAGAAAAAAAAAAAAA A	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03130.hp1 NA20905.hp1 HG01109.hp2 HG03130.hp1 NA20905.hp1	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0001 a0007c0009 a0014c0034 a0001c0001 a0007c0009 a0014c0034	a0001c0001t0001 a0007c0009t0022 a0014c0034t0001 a0001c0001t0001 a0007c0009t0022 a0014c0034t0001	a0001c0001t0001g0224 a0007c0009t0022g0267 a0014c0034t0001g0124 a0001c0001t0001g0224 a0007c0009t0022g0267 a0014c0034t0001g0124	3	106	0.0283	27	c.256 others(46): Show c.2562+5613_2562+5614insATATATATATATATATATATATATAT A	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01891.hp2 HG00673.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0192 a0001c0001t0001g0118 a0001c0001t0001g0192	2	105	0.0190	27	c.256 others(46): Show c.2562+5613_2562+5614insAAAAATATATATATATATATATATAT A	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03516.hp1 HG01081.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0216 a0001c0001t0001g0150 a0001c0001t0001g0216	2	105	0.0190	27	c.256 others(46): Show c.2562+5613_2562+5614insAAAAAAATATATATATATATATATAT A	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928057	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19084.hp1 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0152 a0001c0001t0026g0183 a0001c0001t0001g0152 a0001c0001t0026g0183	2	293	0.0068	27	c.256 others(46): Show c.2562+5612_2562+5613insTATATATATATATATATATATATATA T	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0010 a0001c0002t0006g0010	1	67	0.0149	27	c.218 others(46): Show c.2182+3570_2182+3571insATATATATATATATATATTTTTTTTT T	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYOCD_chr17_12660890_12773949	12697360	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19010.hp2 NA18968.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0086 a0001c0001t0008 a0001c0001t0086	a0001c0001t0008g0052 a0001c0001t0086g0092 a0001c0001t0008g0052 a0001c0001t0086g0092	2	299	0.0067	27	c.56- others(42): Show c.56-7768_56-7767insATATATATATATATATATATATATATA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13			chr17	TogoVar
MYOF_chr10_93301429_93487334	93354702	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	231	0.0043	27	c.340 others(44): Show c.3404-815_3404-814insGAGAGAGAGAGAGAGAGAGAGAGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93406288	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	14	0.0714	27	c.730 others(44): Show c.730-2070_730-2069insTATATATATATATATATATATATATAT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	7/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0089 a0001c0021t0001g0089	1	153	0.0065	27	c.88+ others(42): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93483368	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0040 a0008c0040	a0008c0040t0007 a0008c0040t0007	a0008c0040t0007g0165 a0008c0040t0007g0165	1	16	0.0625	27	c.-11 others(38): Show c.-1175_-1174insAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		1035		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTTATATA others(20): Show TTTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG03098.hp2 HG02622.hp2 HG02922.hp1 HG03098.hp2	a0004 a0036 a0041 a0004 a0036 a0041	a0004c0139 a0036c0182 a0041c0177 a0004c0139 a0036c0182 a0041c0177	a0004c0139t0003 a0036c0182t0001 a0041c0177t0001 a0004c0139t0003 a0036c0182t0001 a0041c0177t0001	a0004c0139t0003g0201 a0036c0182t0001g0016 a0041c0177t0001g0177 a0004c0139t0003g0201 a0036c0182t0001g0016 a0041c0177t0001g0177	3	178	0.0169	27	c.27 others(38): Show c.2727_*2728insTATATATATATATATATATATATATAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM1_chr18_3061807_3224968	3187893	G G	GCACTGGT others(20): Show GCACTGGTGCAACCTGCATCACTGCAGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01167.hp1 others(6): Show HG00738.hp1 HG01081.hp2 HG01167.hp1 HG02257.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 NA19043.hp2 NA21309.hp2	a0002 a0004 a0018 a0002 a0004 a0018	a0002c0107 a0002c0108 a0002c0112 others(5): Show a0002c0107 a0002c0108 a0002c0112 a0004c0109 a0004c0110 a0004c0111 a0004c0184 a0018c0053	a0002c0107t0001 a0002c0108t0001 a0002c0112t0001 others(5): Show a0002c0107t0001 a0002c0108t0001 a0002c0112t0001 a0004c0109t0002 a0004c0110t0001 a0004c0111t0003 a0004c0184t0001 a0018c0053t0001	a0002c0107t0001g0034 a0002c0108t0001g0033 a0002c0112t0001g0153 others(6): Show a0002c0107t0001g0034 a0002c0108t0001g0033 a0002c0112t0001g0153 a0004c0109t0002g0146 a0004c0110t0001g0001 a0004c0111t0003g0176 a0004c0184t0001g0032 a0018c0053t0001g0136 a0018c0053t0001g0137	9	328	0.0274	27	c.772 others(42): Show c.772-283_772-257dupGCTGCAGTGATGCAGGTTGCACCAGTG	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	4/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085468	G G	GCTGTCGT others(20): Show GCTGTCGTGATCTCCGCGTGGCCCCTCA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0103 a0001c0103	a0001c0103t0001 a0001c0103t0001	a0001c0103t0001g0346 a0001c0103t0001g0346	1	393	0.0025	27	c.164 others(43): Show c.1644+83_1644+109dupCGTGATCTCCGCGTGGCCCCTCACTGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085755	C C	CTACTGTC others(20): Show CTACTGTCATGATCTCCACGTGGCCACA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0088 a0002c0088	a0002c0088t0002 a0002c0088t0002	a0002c0088t0002g0023 a0002c0088t0002g0023	1	385	0.0026	27	c.164 others(44): Show c.1644+365_1644+366insTACTGTCATGATCTCCACGTGGCCACA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085944	T T	TGTCGTGA others(20): Show TGTCGTGATCTCTTTGTGGCCCCCCACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0001 a0002c0070t0001	a0002c0070t0001g0176 a0002c0070t0001g0176	1	389	0.0026	27	c.164 others(44): Show c.1644+580_1644+581insAGTCGTGATCTCTTTGTGGCCCCCCAC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086076	T T	TACTGTCA others(20): Show TACTGTCATGATCTCCACGTGGCCACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0094 a0094	a0094c0092 a0094c0092	a0094c0092t0001 a0094c0092t0001	a0094c0092t0001g0331 a0094c0092t0001g0331	1	262	0.0038	27	c.164 others(44): Show c.1644+692_1644+693insATGATCTCCACGTGGCCACACACTGTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086100	C C	CCCCACTG others(20): Show CCCCACTGTCGTGATCTCTGCGTGGCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0112 a0001c0014t0002g0112	1	346	0.0029	27	c.164 others(44): Show c.1644+718_1644+719insCGTGATCTCTGCGTGGCTTCCCACTGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086102	C C	CTACTGTC others(20): Show CTACTGTCATGATCTCCACGTGGCCACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0266 a0004c0007t0002g0266	1	369	0.0027	27	c.164 others(44): Show c.1644+712_1644+713insTACTGTCATGATCTCCACGTGGCCACA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086109	T T	TGTGATCT others(20): Show TGTGATCTCCGCGTGGCCCCCCACAGTC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0017 a0017	a0017c0075 a0017c0075	a0017c0075t0002 a0017c0075t0002	a0017c0075t0002g0245 a0017c0075t0002g0245	1	255	0.0039	27	c.164 others(44): Show c.1644+727_1644+728insCGCGTGGCCCCCCACAGTCGTGATCTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086214	A A	ATGATCTC others(20): Show ATGATCTCCGCGTGGCCCCCCACAGTCG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0092 a0092	a0092c0081 a0092c0081	a0092c0081t0001 a0092c0081t0001	a0092c0081t0001g0317 a0092c0081t0001g0317	1	295	0.0034	27	c.164 others(44): Show c.1644+831_1644+832insCGCGTGGCCCCCCACAGTCGTGATCTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086360	T T	TCCCACTG others(20): Show TCCCACTGTCGTGATCTCCGCGTGGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0112 a0001c0014t0002g0112	1	238	0.0042	27	c.164 others(44): Show c.1644+978_1644+979insCGTGATCTCCGCGTGGCCCCCCACTGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086362	C C	CTACTGTC others(20): Show CTACTGTCATGATCTCCACGTGGCCACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18944.hp2 NA18968.hp2 others(3): Show HG03834.hp1 NA18944.hp2 NA18968.hp2 NA18970.hp2 NA19057.hp2 NA19085.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0012 a0017 a0092	a0001c0014 a0002c0088 a0006c0191 others(3): Show a0001c0014 a0002c0088 a0006c0191 a0012c0031 a0017c0077 a0092c0081	a0001c0014t0001 a0002c0088t0002 a0006c0191t0001 others(3): Show a0001c0014t0001 a0002c0088t0002 a0006c0191t0001 a0012c0031t0001 a0017c0077t0001 a0092c0081t0001	a0001c0014t0001g0026 a0002c0088t0002g0023 a0006c0191t0001g0169 others(3): Show a0001c0014t0001g0026 a0002c0088t0002g0023 a0006c0191t0001g0169 a0012c0031t0001g0376 a0017c0077t0001g0305 a0092c0081t0001g0317	6	378	0.0159	27	c.164 others(44): Show c.1644+972_1644+973insTACTGTCATGATCTCCACGTGGCCACA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086362	C C	CTACTGTC others(20): Show CTACTGTCGTGATCTCCACGTGGCCACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03239.hp2 HG03491.hp2 others(1): Show HG00280.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0016t0001g0039 others(1): Show a0002c0016t0001g0037 a0002c0016t0001g0038 a0002c0016t0001g0039 a0002c0016t0001g0248	4	376	0.0106	27	c.164 others(44): Show c.1644+972_1644+973insTACTGTCGTGATCTCCACGTGGCCACA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086378	T T	TGCGTGGC others(20): Show TGCGTGGCCCCCTACTGTCGTGATCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0117 a0001c0117	a0001c0117t0004 a0001c0117t0004	a0001c0117t0004g0285 a0001c0117t0004g0285	1	266	0.0038	27	c.164 others(44): Show c.1644+996_1644+997insCCCTACTGTCGTGATCTCCGCGTGGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086393	T T	TGTCGTGA others(20): Show TGTCGTGATCTCCGCGTGGCCCCCCACA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20905.hp2 HG02602.hp2 NA20905.hp2	a0012 a0060 a0012 a0060	a0012c0031 a0060c0076 a0012c0031 a0060c0076	a0012c0031t0002 a0060c0076t0001 a0012c0031t0002 a0060c0076t0001	a0012c0031t0002g0281 a0060c0076t0001g0011 a0012c0031t0002g0281 a0060c0076t0001g0011	2	368	0.0054	27	c.164 others(46): Show c.1644+1005_1644+1006insCGTGATCTCCGCGTGGCCCCCCACAG T	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086396	T T	TGTGATCT others(20): Show TGTGATCTCTGTGTGGCCCCCCACTGTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0104 a0002c0104	a0002c0104t0001 a0002c0104t0001	a0002c0104t0001g0217 a0002c0104t0001g0217	1	150	0.0067	27	c.164 others(46): Show c.1644+1016_1644+1017insTGTGGCCCCCCACTGTCGTGATCTCT G	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086467	C C	CCCCCACT others(20): Show CCCCCACTGTCGTGATCTCTGCGTGGCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0094 a0094	a0094c0092 a0094c0092	a0094c0092t0001 a0094c0092t0001	a0094c0092t0001g0331 a0094c0092t0001g0331	1	402	0.0025	27	c.164 others(46): Show c.1644+1077_1644+1078insCCCCACTGTCGTGATCTCTGCGTGGC T	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36			chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086478	A A	ATGATCTC others(20): Show ATGATCTCTGTGTGGCCCCCCACTGTCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0112 a0001c0014t0002g0112	1	381	0.0026	27	c.164 others(46): Show c.1644+1098_1644+1124dupTGTGGCCCCCCACTGTCGTGATCTCT G	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOZ2_chr4_119130832_119192789	119134256	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA18947.hp1 NA18974.hp2 HG04115.hp2 NA18947.hp1 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0084 a0002c0003t0002g0009 a0002c0003t0002g0105 a0001c0001t0002g0084 a0002c0003t0002g0009 a0002c0003t0002g0105	3	382	0.0079	27	c.-17 others(38): Show c.-1741_-1740insGATAGATAGATAGATAGATAGATAGAT	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1575		chr4	TogoVar

Search by Variant

Search

Search Results