JoGo: Joint Open Genome and Omics Platform

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
MYBPC1_chr12_101589971_101691028	101591843	C C	CCTTCTCC others(29): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0334 a0001c0003t0005g0334	1	360	0.0028	36	c.-32 others(47): Show c.-3228_-3227insCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TT	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3127		chr12	TogoVar
MYBPC3_chr11_47326406_47357702	47348908	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp1 HG01358.hp1 others(20): Show HG01109.hp2 HG01123.hp1 HG01358.hp1 HG01358.hp2 HG02080.hp2 HG02129.hp2 HG02683.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03704.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp2 NA18954.hp1 NA18981.hp2 NA18983.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19066.hp2 NA19077.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0007 a0017	a0001c0001 a0001c0002 a0003c0006 others(3): Show a0001c0001 a0001c0002 a0003c0006 a0004c0007 a0007c0012 a0017c0020	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0004c0007t0001 a0007c0012t0001 a0017c0020t0001	a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0002t0001g0017 others(15): Show a0001c0001t0001g0139 a0001c0001t0001g0161 a0001c0002t0001g0017 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0071 a0001c0002t0001g0142 a0001c0002t0001g0162 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0266 a0001c0002t0001g0287 a0003c0006t0001g0136 a0004c0007t0001g0196 a0004c0007t0001g0197 a0004c0007t0001g0198 a0007c0012t0001g0038 a0017c0020t0001g0215	23	374	0.0615	36	c.655 others(51): Show c.655-368_655-367insTATATATATATATATATATATATATATATA TATATA	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding	5/34			chr11	TogoVar
MYCBP2_chr13_77039657_77332094	77294129	T T	TATATATA others(29): Show TATATATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG03490.hp2 HG00741.hp2 HG01261.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0043 a0001c0001t0001g0161 a0001c0001t0001g0165	3	334	0.0090	36	c.378 others(53): Show c.378+2469_378+2470insGTATATATATATATATATATATATATAT GTATATAT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar
MYCBPAP_chr17_50503439_50536501	50522707	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04115.hp1 HG02735.hp2 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0294 a0002c0003t0001g0295	2	376	0.0053	36	c.125 others(53): Show c.1258-231_1258-230insTATATATATATATATATATATATATATA TATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	376	0.0027	36	c.125 others(53): Show c.1258-229_1258-228insAAAAAAAAAAAAAAAATATATATATATA TATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0314 a0002c0003t0001g0314	1	376	0.0027	36	c.125 others(53): Show c.1258-229_1258-228insAAAAAAAAAAAATATATATATATATATA TATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0001 a0018c0020t0001	a0018c0020t0001g0061 a0018c0020t0001g0061	1	376	0.0027	36	c.125 others(53): Show c.1258-229_1258-228insAAAATATATATATATATATATATATATA TATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBP_chr1_38857493_38878348	38866044	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	434	0.0023	36	c.267 others(51): Show c.267+835_267+836insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MYCBP	ENSG00000214114.9	transcript	ENST00000397572.5	protein_coding	4/4			chr1	TogoVar
MYCL_chr1_39890428_39906917	39893789	G G	GGGGGACA others(29): Show GGGGGACAAGTGGAAAAAGCTTACTTGATAGGAGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA19063.hp2 NA18973.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	414	0.0048	36	c.35 others(47): Show c.3582_*3583insAGTCTCCTATCAAGTAAGCTTTTTCCACTTGTCC CC	MYCL	ENSG00000116990.12	transcript	ENST00000372816.3	protein_coding		1638		chr1	TogoVar
MYCT1_chr6_152692897_152729569	152697679	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 NA19081.hp1 HG01934.hp2 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0004 a0002c0008t0004 a0002c0002t0004 a0002c0008t0004	a0002c0002t0004g0029 a0002c0008t0004g0012 a0002c0002t0004g0029 a0002c0008t0004g0012	2	444	0.0045	36	c.-22 others(45): Show c.-224_-223insACACACACACACACACACACACACACACACACACAC	MYCT1	ENSG00000120279.7	transcript	ENST00000367245.6	protein_coding		217		chr6	TogoVar
MYH10_chr17_8469224_8635725	8592933	C C	CCATATAT others(29): Show CCATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	274	0.0037	36	c.503 others(53): Show c.503-3826_503-3825insTATATATATATATATATATATATATATA TATATATG	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	3/42			chr17	TogoVar
MYH11_chr16_15698135_15862028	15712882	G G	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18965.hp2 NA19084.hp2 HG01934.hp2 NA18965.hp2 NA19084.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0210 a0002c0001t0001g0229 a0002c0001t0001g0276 a0002c0001t0001g0210 a0002c0001t0001g0229 a0002c0001t0001g0276	3	297	0.0101	36	c.578 others(55): Show c.5786+2026_5786+2027insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	40/40			chr16	TogoVar
MYH1_chr17_10487307_10523542	10495760	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19087.hp1 HG02922.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0160 a0001c0001t0001g0129 a0001c0001t0001g0160	2	360	0.0056	36	c.516 others(53): Show c.5169+189_5169+190insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	MYH1	ENSG00000109061.10	transcript	ENST00000226207.6	protein_coding	35/39			chr17	TogoVar
MYH2_chr17_10516148_10554658	10546256	G G	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	352	0.0028	36	c.349 others(51): Show c.349-755_349-754insATATATATATATATATATATATATATATAT ATATAT	MYH2	ENSG00000125414.19	transcript	ENST00000245503.10	protein_coding	4/39			chr17	TogoVar
MYH9_chr22_36276280_36392967	36379762	C C	CAGGAGGG others(29): Show CAGGAGGGTCCTGGGCTAGAGATGCAGACAGCCACTG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0141 a0001c0004t0014g0141	1	242	0.0041	36	c.-20 others(53): Show c.-20+8009_-20+8044dupCAGTGGCTGTCTGCATCTCTAGCCCAGG ACCCTCCT	MYH9	ENSG00000100345.23	transcript	ENST00000216181.11	protein_coding	1/40			chr22	TogoVar
MYL12B_chr18_3257133_3283461	3281910	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01261.hp1 HG02015.hp2 others(4): Show HG01070.hp1 HG01261.hp1 HG02015.hp2 NA18942.hp2 NA18975.hp2 NA18992.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0138 a0001c0001t0002g0002 a0001c0001t0002g0138	7	430	0.0163	36	c.39 others(47): Show c.3973_*3974insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CC	MYL12B	ENSG00000118680.14	transcript	ENST00000237500.10	protein_coding		3450		chr18	TogoVar
MYL2_chr12_110905845_110925579	110906023	T T	TATATATT others(29): Show TATATATTATAATAATATAATATATAATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp1 NA18965.hp1 others(5): Show HG00621.hp2 HG00673.hp1 NA18965.hp1 NA18988.hp2 NA19000.hp2 NA19056.hp2 NA19080.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	8	368	0.0217	36	c.50 others(47): Show c.5018_*5053dupTATATATATATTATATATTATATTATTATAATAT AT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4821		chr12	TogoVar
MYL2_chr12_110905845_110925579	110916221	A A	ACCCCCCC others(29): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	368	0.0027	36	c.94- others(49): Show c.94-432_94-431insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGG	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding	2/6			chr12	TogoVar
MYLK_chr3_123605049_123889332	123607797	A A	AAATATAA others(29): Show AAATATAATAATATATTTTATATATAATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0023 a0023	a0023c0032 a0023c0032	a0023c0032t0042 a0023c0032t0042	a0023c0032t0042g0127 a0023c0032t0042g0127	1	156	0.0064	36	c.63 others(47): Show c.6307_*6308insATTATATATATTATATATAAAATATATTATTATA TT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		2251		chr3	TogoVar
MYNN_chr3_169768396_169794716	169769763	A A	ATCCCGGA others(29): Show ATCCCGGACCATCCTCCCTTTCTCCCCCCCCGGGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	350	0.0029	36	c.-37 others(47): Show c.-3731_-3730insTCCCGGACCATCCTCCCTTTCTCCCCCCCCGGGA AC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		3632		chr3	TogoVar
MYO10_chr5_16656907_16941288	16823467	G G	GGGGGGGG others(29): Show GGGGGGGGGGGGGGGGGGGGAGTGGGGGGATTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0065 a0001c0003t0022g0065	1	272	0.0037	36	c.121 others(53): Show c.121-5301_121-5300insAAAAAAATCCCCCCACTCCCCCCCCCCC CCCCCCCC	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	2/40			chr5	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0068 a0003c0068	a0003c0068t0014 a0003c0068t0014	a0003c0068t0014g0075 a0003c0068t0014g0075	1	152	0.0066	36	c.236 others(55): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTCTCTATATATAT ATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109010957	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0002 a0003c0019t0002	a0003c0019t0002g0099 a0003c0019t0002g0099	1	152	0.0066	36	c.259 others(55): Show c.2595+1927_2595+1928insATATATATATATATATATATATATAT ATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109040385	C C	CACAGAGA others(29): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0028 a0001c0002t0003g0028	1	152	0.0066	36	c.279 others(55): Show c.2797-6530_2797-6529insCAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109199196	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0125 a0002c0001t0019g0125	1	152	0.0066	36	c.541 others(55): Show c.5416-7378_5416-7377insGTATATATATATATATATATATATAT ATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18B_chr22_25737188_26036045	25948523	T T	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03017.hp2 HG04115.hp2 HG02602.hp1 HG03017.hp2 HG04115.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0015 a0001c0001 a0002c0002 a0012c0015	a0001c0001t0001 a0002c0002t0001 a0012c0015t0001 a0001c0001t0001 a0002c0002t0001 a0012c0015t0001	a0001c0001t0001g0048 a0002c0002t0001g0141 a0012c0015t0001g0199 a0001c0001t0001g0048 a0002c0002t0001g0141 a0012c0015t0001g0199	3	228	0.0132	36	c.574 others(53): Show c.5748+698_5748+699insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	36/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25948527	T T	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02523.hp1 HG02572.hp2 others(4): Show HG00733.hp2 HG02523.hp1 HG02572.hp2 HG02717.hp2 HG03239.hp1 NA18999.hp2 NA20752.hp2	a0002 a0003 a0006 others(4): Show a0002 a0003 a0006 a0011 a0017 a0018 a0052	a0002c0030 a0003c0004 a0006c0062 others(4): Show a0002c0030 a0003c0004 a0006c0062 a0011c0074 a0017c0126 a0018c0034 a0052c0068	a0002c0030t0001 a0003c0004t0001 a0006c0062t0001 others(4): Show a0002c0030t0001 a0003c0004t0001 a0006c0062t0001 a0011c0074t0001 a0017c0126t0001 a0018c0034t0001 a0052c0068t0001	a0002c0030t0001g0164 a0003c0004t0001g0148 a0006c0062t0001g0228 others(4): Show a0002c0030t0001g0164 a0003c0004t0001g0148 a0006c0062t0001g0228 a0011c0074t0001g0102 a0017c0126t0001g0165 a0018c0034t0001g0046 a0052c0068t0001g0060	7	228	0.0307	36	c.574 others(53): Show c.5748+722_5748+723insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	36/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25948527	T T	TCTTTCTT others(29): Show TCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	228	0.0044	36	c.574 others(53): Show c.5748+702_5748+703insTCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTT	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	36/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1D_chr17_32487522_32882124	32552401	A A	AATCCATC others(29): Show AATCCATCCATCCATCCACCCATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02109.hp2 HG03579.hp1 HG02004.hp2 HG02109.hp2 HG03579.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0009c0011t0010 a0001c0001t0001 a0009c0011t0010	a0001c0001t0001g0012 a0001c0001t0001g0113 a0009c0011t0010g0018 a0001c0001t0001g0012 a0001c0001t0001g0113 a0009c0011t0010g0018	3	244	0.0123	36	c.286 others(57): Show c.2864+52650_2864+52685dupGGATGGATGGATGGATGGGTGGAT GGATGGATGGAT	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1D_chr17_32487522_32882124	32552423	T T	TCCATCCA others(29): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19043.hp2 NA19240.hp2 HG01884.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0031 a0001c0001t0035 a0001c0001t0003 a0001c0001t0031 a0001c0001t0035	a0001c0001t0003g0033 a0001c0001t0031g0129 a0001c0001t0035g0163 a0001c0001t0003g0033 a0001c0001t0031g0129 a0001c0001t0035g0163	3	244	0.0123	36	c.286 others(57): Show c.2864+52663_2864+52664insGTGGATGGATGGATGGATGGATGG ATGGATGGATGG	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0081 a0001c0002t0003g0081	1	226	0.0044	36	c.110 others(55): Show c.1107+1224_1107+1225insTATATACACATACACACACACACACA CACACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19030.hp1 NA19084.hp2 NA18945.hp2 NA19030.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0025 a0001c0001t0001 a0001c0001t0003 a0001c0004t0025	a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0004t0025g0017 a0001c0001t0001g0045 a0001c0001t0003g0050 a0001c0004t0025g0017	3	226	0.0133	36	c.110 others(55): Show c.1107+1224_1107+1225insTATACACATACACACACACACACACA CACACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59216666	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	226	0.0044	36	c.110 others(55): Show c.1107+1224_1107+1225insTACACACATACACACACACACACACA CACACACACA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59282927	G G	GGGAGGGG others(29): Show GGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0018 a0001c0014t0002g0018	1	226	0.0044	36	c.4-1 others(51): Show c.4-10479_4-10478insTCCCCCCTCCCCCTCCCCCCTCCCCCCTCC CCCTCC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1F_chr19_8515778_8582442	8543744	C C	CTGGTGGT others(29): Show CTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG02486.hp2 others(2): Show HG01099.hp2 HG01109.hp1 HG02486.hp2 HG03654.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0084 a0001c0001t0003g0203 others(2): Show a0001c0001t0003g0032 a0001c0001t0003g0084 a0001c0001t0003g0203 a0001c0001t0003g0228 a0001c0001t0003g0315	5	342	0.0146	36	c.152 others(53): Show c.1524+552_1524+553insCCACCACCACCACCAGCACCACCAGCAC CACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543744	C C	CTGGTGGT others(29): Show CTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01891.hp1 HG02015.hp2 others(13): Show HG00673.hp2 HG01891.hp1 HG02015.hp2 HG02074.hp1 HG02572.hp1 HG02976.hp2 NA18747.hp2 NA18942.hp2 NA18948.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18998.hp2 NA19000.hp2 NA19055.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0002 a0002c0005 others(3): Show a0001c0001 a0001c0002 a0002c0005 a0003c0004 a0005c0013 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0005 a0002c0005t0003 a0002c0005t0020 a0003c0004t0003 a0005c0013t0003 a0007c0017t0002	a0001c0001t0001g0327 a0001c0001t0002g0094 a0001c0001t0002g0313 others(13): Show a0001c0001t0001g0327 a0001c0001t0002g0094 a0001c0001t0002g0313 a0001c0001t0002g0330 a0001c0001t0003g0175 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0260 a0001c0001t0003g0337 a0001c0002t0005g0058 a0002c0005t0003g0022 a0002c0005t0003g0033 a0002c0005t0020g0026 a0003c0004t0003g0023 a0005c0013t0003g0328 a0007c0017t0002g0280	16	342	0.0468	36	c.152 others(53): Show c.1524+552_1524+553insCCACCACCACCACCAGCACCACCACCAC CACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543886	T T	TGCTGGTG others(29): Show TGCTGGTGGTGGCGGTGGCGGTGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03927.hp2 HG03209.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0062 a0001c0002t0006g0266 a0001c0001t0001g0062 a0001c0002t0006g0266	2	342	0.0059	36	c.152 others(53): Show c.1524+410_1524+411insGCCACCGCCACCGCCACCGCCACCGCCA CCACCAGC	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8544000	T T	TGCTGGTG others(29): Show TGCTGGTGCTGGTGCTGGTGGTGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	342	0.0029	36	c.152 others(53): Show c.1524+296_1524+297insGCCACCGCCACCGCCACCACCAGCACCA GCACCAGC	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8544041	C C	CTGGTGGT others(29): Show CTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGCTGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0047 a0001c0003t0010g0047	1	342	0.0029	36	c.152 others(53): Show c.1524+255_1524+256insCCAGCACCAGCACCACCACCACCACCAC CACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(29): Show ACACACACACACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0013 a0001c0001t0002g0014	2	342	0.0059	36	c.327 others(51): Show c.327-458_327-457insAGAGAGAGAGAGTGTGTGTGTGTGTGTGTG TGTGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8553894	A A	ACACACAC others(29): Show ACACACACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19081.hp1 NA18957.hp1 NA19081.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0020 a0002c0005t0003 a0002c0005t0020	a0002c0005t0003g0039 a0002c0005t0020g0026 a0002c0005t0003g0039 a0002c0005t0020g0026	2	342	0.0059	36	c.327 others(51): Show c.327-458_327-457insAGAGAGAGAGAGAGTGTGTGTGTGTGTGTG TGTGTG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	4/27			chr19	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0189 a0002c0001t0001g0189	1	312	0.0032	36	c.194 others(53): Show c.1949+324_1949+325insAAAATATATATATATATATATATATATA TATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAATATA others(29): Show AAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0150 a0002c0001t0001g0150	1	312	0.0032	36	c.194 others(53): Show c.1949+324_1949+325insAATATATATATATATATATATATATATA TATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0075 a0003c0002t0002g0075	1	312	0.0032	36	c.194 others(53): Show c.1949+351_1949+352insATATATATATATATATATATATATATAT ATATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109443045	T T	TGTGTATA others(29): Show TGTGTATACACATATATATGTGTGTATATATGTGTAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0013 a0013c0020t0013	a0013c0020t0013g0249 a0013c0020t0013g0249	1	312	0.0032	36	c.268 others(53): Show c.2689-467_2689-466insGTATACACATATATATGTGTGTATATAT GTGTACGT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18986.hp2 HG03831.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0200 a0001c0001t0050g0175 a0001c0001t0001g0200 a0001c0001t0050g0175	2	302	0.0066	36	c.220 others(55): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5B_chr18_49817789_50200147	49974798	G G	GACACACA others(29): Show GACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18979.hp1 HG02809.hp1 NA18979.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0007 a0003c0004 a0004c0007	a0003c0004t0003 a0004c0007t0004 a0003c0004t0003 a0004c0007t0004	a0003c0004t0003g0149 a0004c0007t0004g0208 a0003c0004t0003g0149 a0004c0007t0004g0208	2	238	0.0084	36	c.105 others(53): Show c.1057-184_1057-183insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	9/39			chr18	TogoVar
MYO5B_chr18_49817789_50200147	50104265	G G	GATAGATA others(29): Show GATAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0004 a0001c0001t0024g0004	1	238	0.0042	36	c.28- others(53): Show c.28-48888_28-48887insATATATATATATATATATATATATATAT ATATCTAT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39			chr18	TogoVar
MYO9A_chr15_71817291_72123150	71910168	G G	GTATATAT others(29): Show GTATATATATATATATATATATACGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03195.hp1 HG02683.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0200 a0001c0001t0001g0202	2	308	0.0065	36	c.268 others(55): Show c.2686-5163_2686-5162insTATATATATACACGTATATATATATA TATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71925396	T T	TATACGTA others(29): Show TATACGTATATACATATCTATGTATATGTATATATAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0242 a0002c0003t0003g0242	1	308	0.0033	36	c.256 others(55): Show c.2562+8238_2562+8273dupCTATATATACATATACATAGATATGT ATATACGTAT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar

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Search Results (Total: 8848 hits)