Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
MYNN_chr3_169768396_169794716	169771400	A A	ATGTTTAT others(22): Show ATGTTTATATATAATAAATATATAAAAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	350	0.0029	29	c.-20 others(40): Show c.-2094_-2093insTGTTTATATATAATAAATATATAAAAATT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		1995		chr3	TogoVar
MYO10_chr5_16656907_16941288	16719063	T T	TGCTCTTT others(22): Show TGCTCTTTGCAATAAATCTTGCTACTGCTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0031 a0031	a0031c0051 a0031c0051	a0031c0051t0104 a0031c0051t0104	a0031c0051t0104g0042 a0031c0051t0104g0042	1	272	0.0037	29	c.193 others(48): Show c.1930-7847_1930-7819dupGAGCAGTAGCAAGATTTATTGCAAAG AGC	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16823467	G G	GGGGGGGG others(22): Show GGGGGGGGGAGTGGGGATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0145 a0002c0002t0145	a0002c0002t0145g0222 a0002c0002t0145g0222	1	272	0.0037	29	c.121 others(46): Show c.121-5301_121-5300insAAAAAAAAAAAAATCCCCACTCCCCCCC C	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16823467	G G	GGGGGGGG others(22): Show GGGGGGGGGGAGTGGGGATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19002.hp2 NA19009.hp2 NA18952.hp2 NA19002.hp2 NA19009.hp2	a0002 a0016 a0002 a0016	a0002c0002 a0016c0018 a0002c0002 a0016c0018	a0002c0002t0007 a0002c0002t0133 a0016c0018t0019 a0002c0002t0007 a0002c0002t0133 a0016c0018t0019	a0002c0002t0007g0196 a0002c0002t0133g0145 a0016c0018t0019g0021 a0002c0002t0007g0196 a0002c0002t0133g0145 a0016c0018t0019g0021	3	272	0.0110	29	c.121 others(46): Show c.121-5301_121-5300insAAAAAAAAAAAATCCCCACTCCCCCCCC C	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16823467	G G	GGGGGGGG others(22): Show GGGGGGGGGGGGGAGTGGGGATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0128 a0003c0006t0128	a0003c0006t0128g0058 a0003c0006t0128g0058	1	272	0.0037	29	c.121 others(46): Show c.121-5301_121-5300insAAAAAAAAATCCCCACTCCCCCCCCCCC C	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO16_chr13_108624611_109213005	109023305	T T	TATATATA others(22): Show TATATATATTTATATATTATACAGATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0021 a0021	a0021c0035 a0021c0035	a0021c0035t0001 a0021c0035t0001	a0021c0035t0001g0146 a0021c0035t0001g0146	1	152	0.0066	29	c.279 others(48): Show c.2796+3577_2796+3605dupTTATATATTATACAGATATAAATATA TAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1E_chr15_59127434_59377871	59268718	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0064 a0001c0004t0019g0064	1	226	0.0044	29	c.147 others(46): Show c.147+3587_147+3588insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	2/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282922	G G	GGAGGGGG others(22): Show GGAGGGGGAGGGGGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18963.hp2 HG02809.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0006 a0001c0001t0005 a0001c0003t0006	a0001c0001t0005g0121 a0001c0003t0006g0142 a0001c0001t0005g0121 a0001c0003t0006g0142	2	226	0.0089	29	c.4-1 others(44): Show c.4-10474_4-10473insTCCCCCCTCCCCCCTCCCCCCTCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282922	G G	GGAGGGGG others(22): Show GGAGGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20300.hp2 HG02451.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0210 a0001c0003t0013g0211 a0001c0003t0013g0210 a0001c0003t0013g0211	2	226	0.0089	29	c.4-1 others(44): Show c.4-10474_4-10473insTCCCCCCTCCCCCTCCCCCCTCCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282927	G G	GGGAGGGG others(22): Show GGGAGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	226	0.0044	29	c.4-1 others(44): Show c.4-10479_4-10478insTCCCCCCTCCCCCTCCCCCCTCCCCCTCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0093 a0001c0002t0038g0093	1	226	0.0044	29	c.4-4 others(44): Show c.4-47130_4-47102dupAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1H_chr12_109342900_109453379	109427905	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0079 a0003c0002t0002g0079	1	312	0.0032	29	c.194 others(46): Show c.1949+319_1949+320insTATATATATATATATATATATATATATA T	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0003 a0004c0014t0003	a0004c0014t0003g0104 a0004c0014t0003g0104	1	312	0.0032	29	c.194 others(46): Show c.1949+324_1949+325insAAAAAAATATATATATATATATATATAT A	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(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 NA18952.hp1 others(2): Show HG00408.hp2 HG01106.hp1 NA18952.hp1 NA18955.hp2 NA18998.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0122 a0002c0001t0001g0139 a0002c0001t0001g0169 others(2): Show a0002c0001t0001g0122 a0002c0001t0001g0139 a0002c0001t0001g0169 a0002c0001t0001g0178 a0002c0001t0001g0180	5	312	0.0160	29	c.194 others(46): Show c.1949+324_1949+325insAAAAATATATATATATATATATATATAT A	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(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0030 a0002c0001t0001g0030	1	312	0.0032	29	c.194 others(46): Show c.1949+324_1949+325insAAATATATATATATATATATATATATAT A	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(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18968.hp2 HG02083.hp2 NA18968.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0001 a0003c0002t0002 a0002c0001t0001 a0003c0002t0002	a0002c0001t0001g0148 a0003c0002t0002g0091 a0002c0001t0001g0148 a0003c0002t0002g0091	2	312	0.0064	29	c.194 others(46): Show c.1949+324_1949+325insATATATATATATATATATATATATATAT A	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19004.hp1 NA18984.hp2 NA19004.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0085 a0003c0002t0002g0087 a0003c0002t0002g0085 a0003c0002t0002g0087	2	312	0.0064	29	c.194 others(46): Show c.1949+323_1949+324insTATATATATATATATATATATATATATA T	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO3B_chr2_170173147_170660167	170230336	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	174	0.0058	29	c.604 others(46): Show c.604-5629_604-5628insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18950.hp2 NA18973.hp2 others(1): Show HG02818.hp1 NA18950.hp2 NA18973.hp2 NA19083.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0025 a0001c0001 a0001c0003 a0010c0025	a0001c0001t0052 a0001c0003t0004 a0010c0025t0003 a0001c0001t0052 a0001c0003t0004 a0010c0025t0003	a0001c0001t0052g0218 a0001c0003t0004g0247 a0001c0003t0004g0248 others(1): Show a0001c0001t0052g0218 a0001c0003t0004g0247 a0001c0003t0004g0248 a0010c0025t0003g0245	4	302	0.0133	29	c.220 others(48): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5C_chr15_52187322_52300804	52291731	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0098 a0001c0004t0004g0098	1	360	0.0028	29	c.27+ others(44): Show c.27+3878_27+3879insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40			chr15	TogoVar
MYO6_chr6_75744239_75924537	75756947	A A	ATGTGTAT others(22): Show ATGTGTATATATGTATACACACATATATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02165.hp1 NA18939.hp1 others(1): Show HG00408.hp2 HG02165.hp1 NA18939.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0106 a0001c0002t0002 others(1): Show a0001c0001t0009 a0001c0001t0106 a0001c0002t0002 a0001c0002t0082	a0001c0001t0009g0330 a0001c0001t0106g0186 a0001c0002t0002g0239 others(1): Show a0001c0001t0009g0330 a0001c0001t0106g0186 a0001c0002t0002g0239 a0001c0002t0082g0240	4	358	0.0112	29	c.-48 others(46): Show c.-48+7596_-48+7624dupATACACACATATATAGTGTGTATATATG T	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(22): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02622.hp1 HG03209.hp2 HG00408.hp2 HG02622.hp1 HG03209.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0010 a0001c0001 a0009c0010	a0001c0001t0020 a0009c0010t0001 a0001c0001t0020 a0009c0010t0001	a0001c0001t0020g0145 a0001c0001t0020g0175 a0009c0010t0001g0133 a0001c0001t0020g0145 a0001c0001t0020g0175 a0009c0010t0001g0133	3	308	0.0097	29	c.268 others(48): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAAAAAAAAAG AAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02027.hp1 HG01433.hp2 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0160 a0001c0002t0004g0093 a0001c0001t0001g0160 a0001c0002t0004g0093	2	308	0.0065	29	c.256 others(48): Show c.2562+5613_2562+5614insATATATATATATATATATATATATAT ATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	308	0.0033	29	c.256 others(48): Show c.2562+5613_2562+5614insAAAAATATATATATATATATATATAT ATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0001 a0020c0027t0001	a0020c0027t0001g0139 a0020c0027t0001g0139	1	308	0.0033	29	c.256 others(48): Show c.2562+5613_2562+5614insAAAAAAAAAAATATATATATATATAT ATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928057	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0098	1	308	0.0033	29	c.256 others(48): Show c.2562+5612_2562+5613insTATATATATATATATATATATATATA TAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYOCD_chr17_12660890_12773949	12697360	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0238 a0001c0004t0031g0238	1	346	0.0029	29	c.56- others(44): Show c.56-7768_56-7767insATATATATATATATATATATATATATATA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13			chr17	TogoVar
MYOC_chr1_171630417_171657688	171648631	T T	TATTATAT others(22): Show TATTATATATATAATAAATTTATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00597.hp1 others(53): Show HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp2 HG01074.hp2 HG01109.hp1 HG01175.hp2 HG01346.hp1 HG01433.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02300.hp1 HG02738.hp1 HG02886.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18950.hp2 NA18956.hp1 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18981.hp2 NA18987.hp1 NA19054.hp2 NA19065.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19088.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0009 a0004c0020 others(1): Show a0001c0001 a0001c0009 a0004c0020 a0005c0019	a0001c0001t0001 a0001c0009t0001 a0004c0020t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0004c0020t0001 a0005c0019t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0021 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0185 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0009t0001g0131 a0004c0020t0001g0230 a0005c0019t0001g0229	56	434	0.1290	29	c.604 others(46): Show c.604+3348_604+3376dupTATATATATAAATTTATTATATATATAA T	MYOC	ENSG00000034971.17	transcript	ENST00000037502.11	protein_coding	1/2			chr1	TogoVar
MYOF_chr10_93301429_93487334	93369110	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	240	0.0042	29	c.258 others(46): Show c.2589+534_2589+535insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	25/53			chr10	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTTATATA others(22): Show TTTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02922.hp2 others(1): Show HG01243.hp2 HG02451.hp1 HG02922.hp2 HG03225.hp2	a0002 a0007 a0002 a0007	a0002c0025 a0002c0049 a0002c0117 others(1): Show a0002c0025 a0002c0049 a0002c0117 a0007c0006	a0002c0025t0001 a0002c0049t0001 a0002c0117t0001 others(1): Show a0002c0025t0001 a0002c0049t0001 a0002c0117t0001 a0007c0006t0001	a0002c0025t0001g0008 a0002c0049t0001g0123 a0002c0117t0001g0121 others(1): Show a0002c0025t0001g0008 a0002c0049t0001g0123 a0002c0117t0001g0121 a0007c0006t0001g0080	4	330	0.0121	29	c.27 others(40): Show c.2727_*2728insTATATATATATATATATATATATATATAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085545	C C	CCCCACTG others(22): Show CCCCACTGTCGTGATCTCCGCGTGGCCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0083 a0083	a0083c0092 a0083c0092	a0083c0092t0001 a0083c0092t0001	a0083c0092t0001g0331 a0083c0092t0001g0331	1	403	0.0025	29	c.164 others(46): Show c.1644+156_1644+157insCCACTGTCGTGATCTCCGCGTGGCCCCT C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085567	G G	GCCCCCCA others(22): Show GCCCCCCACAGTCGTGATCTCTTTGTGGCC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0104 a0002c0104	a0002c0104t0001 a0002c0104t0001	a0002c0104t0001g0215 a0002c0104t0001g0215	1	403	0.0025	29	c.164 others(46): Show c.1644+181_1644+182insCCACAGTCGTGATCTCTTTGTGGCCCCC C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085671	G G	GCCCCCCA others(22): Show GCCCCCCACTGTTGTGATCTCTGCGTGGCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0246 a0002c0016t0001g0246	1	403	0.0025	29	c.164 others(46): Show c.1644+285_1644+286insCCACTGTTGTGATCTCTGCGTGGCACCC C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085831	G G	GCCTCCCA others(22): Show GCCTCCCACTGTTGTGATCTTTGCGTGGCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0005 a0005	a0005c0090 a0005c0090	a0005c0090t0002 a0005c0090t0002	a0005c0090t0002g0339 a0005c0090t0002g0339	1	403	0.0025	29	c.164 others(46): Show c.1644+443_1644+444insTCCCACTGTTGTGATCTTTGCGTGGCCC C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2086181	C C	CCTCACTG others(22): Show CCTCACTGTCGTGATCTCCGCGTGGCCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0048 a0048	a0048c0195 a0048c0195	a0048c0195t0001 a0048c0195t0001	a0048c0195t0001g0093 a0048c0195t0001g0093	1	403	0.0025	29	c.164 others(46): Show c.1644+792_1644+793insTCACTGTCGTGATCTCCGCGTGGCCCCT C	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120689	A A	ATATATAT others(22): Show ATATATATATATAATATATATTTATAATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0233 a0002c0017t0001g0233	1	403	0.0025	29	c.345 others(48): Show c.3454-2563_3454-2562insTATATATATATAATATATATTTATAA TAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36			chr8	TogoVar
MYPN_chr10_68104488_68217017	68169181	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0196 a0007c0008t0004g0196	1	306	0.0033	29	c.197 others(48): Show c.1973+2542_1973+2543insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0317 a0003c0006t0001g0317	1	322	0.0031	29	c.903 others(44): Show c.903+471_903+472insCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24			chr12	TogoVar
MYRIP_chr3_39804609_40265321	40202995	T T	TGTCGGCT others(22): Show TGTCGGCTCACTGCAATCTCCACCTCCCAG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0029 a0001c0001t0015g0029	1	170	0.0059	29	c.166 others(48): Show c.1666-6856_1666-6828dupCGGCTCACTGCAATCTCCACCTCCCA GGT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651443	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	410	0.0024	29	c.85 others(40): Show c.8553_*8554insCACACACACACACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3299		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0335 a0004c0004t0007g0335	1	410	0.0024	29	c.68+ others(44): Show c.68+1882_68+1883insATATATATATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20129.hp2 HG03195.hp1 NA20129.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0023 a0005c0006t0011 a0004c0004t0023 a0005c0006t0011	a0004c0004t0023g0272 a0005c0006t0011g0360 a0004c0004t0023g0272 a0005c0006t0011g0360	2	410	0.0049	29	c.68+ others(44): Show c.68+1882_68+1883insAAAAATATATATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01993.hp2 HG00741.hp1 HG01993.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0254 a0002c0005t0016g0255 a0002c0005t0016g0254 a0002c0005t0016g0255	2	410	0.0049	29	c.68+ others(44): Show c.68+1882_68+1883insAAAAAAAAAAATATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0202 a0001c0001t0050g0202	1	410	0.0024	29	c.68+ others(44): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0167 a0001c0001t0004g0167	1	410	0.0024	29	c.68+ others(44): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1L_chr2_1784113_2336275	1797963	C C	CTCCGGCA others(22): Show CTCCGGCACAGGCGCGGCGGTCTCCCCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	104	0.0096	29	c.327 others(48): Show c.3276+3704_3276+3732dupTGGGGGGAGACCGCCGCGCCTGTGCC GGA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	23/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1798165	T T	TCCATCCG others(22): Show TCCATCCGGCACAGGCGCGGCGGTCTCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA20300.hp2 HG02735.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0018 a0001c0002t0002 a0001c0007t0018	a0001c0002t0002g0054 a0001c0007t0018g0068 a0001c0002t0002g0054 a0001c0007t0018g0068	2	104	0.0192	29	c.327 others(48): Show c.3276+3530_3276+3531insGGGGAGACCGCCGCGCCTGTGCCGGA TGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	23/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64177537	G G	GGGGCGGG others(22): Show GGGGCGGGGACAAGAGGGCACCCCTCTCCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	223	0.0045	29	c.-98 others(48): Show c.-98-12522_-98-12494dupCGGGGACAAGAGGGCACCCCTCTCCA GGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64177541	C C	CGGGGACA others(22): Show CGGGGACAAGAGGGCACCCCTCTCCAGGGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0222 a0001c0001t0010g0222	1	223	0.0045	29	c.-98 others(48): Show c.-98-12493_-98-12465dupTGGGGACAAGAGGGCACCCCTCTCCA GGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAA60_chr16_3438680_3491953	3488161	A A	ACTGCCAC others(22): Show ACTGCCACTGCTCCAGGCCTCTCACCAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA21309.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0299 a0001c0001t0001g0303	2	376	0.0053	29	c.29 others(40): Show c.2901_*2902insCTGCCACTGCTCCAGGCCTCTCACCAGTC	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding		1209		chr16	TogoVar

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Search Results (Total: 6085 hits)