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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
MYCBP2_chr13_77039657_77332094	77294129	T T	TATACATA others(19): Show TATACATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0285 a0001c0026t0001g0285	1	334	0.0030	26	c.378 others(43): Show c.378+2469_378+2470insGTATATATATATATATATATATGTAT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA20752.hp1 NA19077.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0356 a0002c0004t0001g0205 a0001c0001t0001g0356 a0002c0004t0001g0205	2	376	0.0053	26	c.125 others(43): Show c.1258-229_1258-228insAAAAAAAAAAAAAAAATATATATATA	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(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp1 HG02129.hp1 others(11): Show HG00597.hp1 HG01106.hp1 HG02129.hp1 HG02148.hp2 HG02155.hp1 HG02698.hp2 HG03017.hp1 NA18942.hp2 NA18957.hp2 NA18989.hp2 NA19003.hp1 NA19068.hp2 NA19086.hp2 NA19088.hp2	a0001 a0013 a0017 others(2): Show a0001 a0013 a0017 a0020 a0032	a0001c0001 a0013c0014 a0017c0019 others(2): Show a0001c0001 a0013c0014 a0017c0019 a0020c0039 a0032c0040	a0001c0001t0001 a0013c0014t0001 a0017c0019t0001 others(2): Show a0001c0001t0001 a0013c0014t0001 a0017c0019t0001 a0020c0039t0001 a0032c0040t0001	a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0058 others(11): Show a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0098 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0203 a0013c0014t0001g0284 a0017c0019t0001g0108 a0020c0039t0001g0176 a0032c0040t0001g0139	14	376	0.0372	26	c.125 others(43): Show c.1258-229_1258-228insAAAAAAAAAAAAAATATATATATATA	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(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG03239.hp2 others(1): Show HG01516.hp1 HG01517.hp1 HG03239.hp2 NA18954.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0017 a0001c0001 a0014c0017	a0001c0001t0001 a0001c0001t0003 a0014c0017t0001 a0001c0001t0001 a0001c0001t0003 a0014c0017t0001	a0001c0001t0001g0145 a0001c0001t0003g0003 a0014c0017t0001g0283 a0001c0001t0001g0145 a0001c0001t0003g0003 a0014c0017t0001g0283	4	376	0.0106	26	c.125 others(43): Show c.1258-229_1258-228insAAAAAAAAAAAATATATATATATATA	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(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0348 a0002c0003t0001g0348	1	376	0.0027	26	c.125 others(43): Show c.1258-229_1258-228insAAAAAAAATATATATATATATATATA	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(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02647.hp2 HG02818.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0317 a0002c0003t0001g0349 a0002c0003t0001g0317 a0002c0003t0001g0349	2	376	0.0053	26	c.125 others(43): Show c.1258-229_1258-228insAAAAAATATATATATATATATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0297 a0002c0003t0001g0297	1	376	0.0027	26	c.125 others(43): Show c.1258-229_1258-228insAATATATATATATATATATATATATA	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	434	0.0023	26	c.267 others(41): Show c.267+835_267+836insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYCBP	ENSG00000214114.9	transcript	ENST00000397572.5	protein_coding	4/4			chr1	TogoVar
MYCT1_chr6_152692897_152729569	152697679	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 NA18981.hp1 NA18994.hp1 others(2): Show HG01891.hp2 NA18981.hp1 NA18994.hp1 NA19009.hp1 NA19066.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0003c0003t0001 a0002c0002t0004 a0003c0003t0001	a0002c0002t0004g0005 a0002c0002t0004g0173 a0002c0002t0004g0178 others(1): Show a0002c0002t0004g0005 a0002c0002t0004g0173 a0002c0002t0004g0178 a0003c0003t0001g0011	5	444	0.0113	26	c.-22 others(35): Show c.-224_-223insACACACACACACACACACACACACAC	MYCT1	ENSG00000120279.7	transcript	ENST00000367245.6	protein_coding		217		chr6	TogoVar
MYDGF_chr19_4652545_4675342	4672286	T T	TATATATA others(19): Show TATATATATACTTATATTCATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 NA18939.hp2 NA18950.hp2 HG02040.hp1 NA18939.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0220 a0001c0001t0001g0299 a0001c0001t0001g0001 a0001c0001t0001g0220 a0001c0001t0001g0299	3	410	0.0073	26	c.-19 others(37): Show c.-1953_-1952insGAATATATGAATATAAGTATATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1945		chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672469	A A	ATATATTC others(19): Show ATATATTCATATATTCATATATATACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	410	0.0024	26	c.-21 others(37): Show c.-2136_-2135insAGTATATATATGAATATATGAATATA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		2128		chr19	TogoVar
MYEF2_chr15_48129632_48183295	48160486	T T	TACATACA others(19): Show TACATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp2 HG02451.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0033 a0001c0001t0008g0033	2	264	0.0076	26	c.526 others(41): Show c.526-683_526-682insGTGTGTGTGTGTGTGTGTGTGTATGT	MYEF2	ENSG00000104177.20	transcript	ENST00000324324.12	protein_coding	5/16			chr15	TogoVar
MYH10_chr17_8469224_8635725	8489706	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18951.hp1 NA19007.hp1 HG03471.hp1 NA18951.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0022 a0001c0002 a0001c0003 a0001c0022	a0001c0002t0002 a0001c0003t0002 a0001c0022t0008 a0001c0002t0002 a0001c0003t0002 a0001c0022t0008	a0001c0002t0002g0149 a0001c0003t0002g0260 a0001c0022t0008g0051 a0001c0002t0002g0149 a0001c0003t0002g0260 a0001c0022t0008g0051	3	274	0.0110	26	c.488 others(43): Show c.4884+633_4884+634insGTGTGTGTGTGTGTGTGTGTGTGTGT	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	35/42			chr17	TogoVar
MYH10_chr17_8469224_8635725	8585286	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01099.hp1 others(15): Show HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp2 HG01943.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 NA18951.hp1 NA18954.hp2 NA18963.hp1 NA18964.hp2 NA19011.hp2 NA19070.hp2 NA19076.hp1 NA19080.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0016	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0005c0016t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 others(15): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0270 a0001c0002t0002g0100 a0001c0002t0002g0134 a0001c0002t0002g0137 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0171 a0001c0002t0002g0236 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0003t0002g0260 a0001c0003t0002g0262 a0005c0016t0002g0121	18	274	0.0657	26	c.530 others(43): Show c.530+3794_530+3795insTATATATATATATATATATATATATA	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	4/42			chr17	TogoVar
MYH10_chr17_8469224_8635725	8585288	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18522.hp2 HG01255.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0080 a0001c0002t0002g0118 a0001c0001t0001g0080 a0001c0002t0002g0118	2	274	0.0073	26	c.530 others(43): Show c.530+3792_530+3793insTATATATATATATATATATATATATA	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	4/42			chr17	TogoVar
MYH10_chr17_8469224_8635725	8592933	C C	CCATATAT others(19): Show CCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02015.hp2 HG02717.hp2 others(5): Show HG01517.hp1 HG02015.hp2 HG02717.hp2 HG03927.hp2 NA18962.hp2 NA19011.hp2 NA19057.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0020t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0187 a0001c0001t0004g0003 a0001c0002t0002g0134 a0001c0002t0002g0251 a0001c0002t0003g0247 a0001c0020t0001g0186	8	274	0.0292	26	c.503 others(43): Show c.503-3826_503-3825insTATATATATATATATATATATATATG	MYH10	ENSG00000133026.14	transcript	ENST00000360416.8	protein_coding	3/42			chr17	TogoVar
MYH11_chr16_15698135_15862028	15712882	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02735.hp2 others(4): Show HG02257.hp1 HG02486.hp1 HG02735.hp2 HG03130.hp1 HG03130.hp2 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0009 a0001c0022 others(2): Show a0001c0006 a0001c0009 a0001c0022 a0001c0055 a0001c0059	a0001c0006t0001 a0001c0009t0001 a0001c0022t0001 others(2): Show a0001c0006t0001 a0001c0009t0001 a0001c0022t0001 a0001c0055t0004 a0001c0059t0001	a0001c0006t0001g0044 a0001c0006t0001g0111 a0001c0006t0001g0136 others(4): Show a0001c0006t0001g0044 a0001c0006t0001g0111 a0001c0006t0001g0136 a0001c0009t0001g0283 a0001c0022t0001g0186 a0001c0055t0004g0008 a0001c0059t0001g0192	7	297	0.0236	26	c.578 others(45): Show c.5786+2026_5786+2027insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	40/40			chr16	TogoVar
MYH11_chr16_15698135_15862028	15777097	G G	GCAGACAT others(19): Show GCAGACATACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0250 a0001c0009t0001g0250	1	297	0.0034	26	c.791 others(41): Show c.791-922_791-921insTGTGTGTGTGTGTGTGTGTATGTCTG	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	7/40			chr16	TogoVar
MYH11_chr16_15698135_15862028	15788077	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02148.hp1 NA19060.hp2 HG00735.hp2 HG02148.hp1 NA19060.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0001 a0001c0011t0001 a0001c0009t0001 a0001c0011t0001	a0001c0009t0001g0225 a0001c0011t0001g0134 a0001c0011t0001g0217 a0001c0009t0001g0225 a0001c0011t0001g0134 a0001c0011t0001g0217	3	297	0.0101	26	c.531 others(43): Show c.531-1346_531-1345insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	4/40			chr16	TogoVar
MYH11_chr16_15698135_15862028	15788095	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02135.hp2 HG03486.hp2 others(6): Show HG00609.hp1 HG02135.hp2 HG03486.hp2 HG03516.hp1 NA18981.hp2 NA18998.hp1 NA18998.hp2 NA19064.hp2 NA19070.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0001c0007 a0001c0008 others(3): Show a0001c0002 a0001c0007 a0001c0008 a0001c0013 a0001c0020 a0010c0041	a0001c0002t0001 a0001c0007t0001 a0001c0008t0001 others(5): Show a0001c0002t0001 a0001c0007t0001 a0001c0008t0001 a0001c0008t0012 a0001c0013t0001 a0001c0013t0002 a0001c0020t0001 a0010c0041t0001	a0001c0002t0001g0027 a0001c0007t0001g0105 a0001c0008t0001g0266 others(6): Show a0001c0002t0001g0027 a0001c0007t0001g0105 a0001c0008t0001g0266 a0001c0008t0001g0293 a0001c0008t0012g0219 a0001c0013t0001g0159 a0001c0013t0002g0162 a0001c0020t0001g0282 a0010c0041t0001g0039	9	297	0.0303	26	c.531 others(43): Show c.531-1364_531-1363insTAAAAAAAAAAAAAAAAAAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	4/40			chr16	TogoVar
MYH14_chr19_50198622_50315540	50207271	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01167.hp1 HG02165.hp1 others(1): Show HG00438.hp1 HG01167.hp1 HG02165.hp1 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0008 a0001c0018 others(1): Show a0001c0003 a0001c0008 a0001c0018 a0001c0030	a0001c0003t0002 a0001c0008t0002 a0001c0018t0001 others(1): Show a0001c0003t0002 a0001c0008t0002 a0001c0018t0001 a0001c0030t0001	a0001c0003t0002g0152 a0001c0008t0002g0269 a0001c0018t0001g0263 others(1): Show a0001c0003t0002g0152 a0001c0008t0002g0269 a0001c0018t0001g0263 a0001c0030t0001g0264	4	298	0.0134	26	c.-3- others(41): Show c.-3-3074_-3-3049dupGAGAGAGAGAGAGAGAGAGAGAGAGA	MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYH1_chr17_10487307_10523542	10495760	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG01258.hp2 others(31): Show HG00544.hp2 HG00642.hp1 HG01258.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02148.hp1 HG02300.hp1 HG02602.hp2 HG02647.hp1 HG03688.hp1 NA18612.hp2 NA18939.hp1 NA18959.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18986.hp1 NA18989.hp2 NA18997.hp1 NA19001.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19083.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0022 a0001 a0002 a0022	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0022c0016	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0022c0016t0001	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0024 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0204 a0001c0008t0001g0151 a0002c0003t0001g0020 a0002c0003t0001g0027 a0002c0003t0001g0138 a0002c0003t0001g0226 a0022c0016t0001g0223	34	360	0.0944	26	c.516 others(43): Show c.5169+189_5169+190insTTTTTTTTTTTTTTTTTTTTTTTTTT	MYH1	ENSG00000109061.10	transcript	ENST00000226207.6	protein_coding	35/39			chr17	TogoVar
MYH2_chr17_10516148_10554658	10546255	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0066 a0001c0003t0002g0066	1	352	0.0028	26	c.349 others(41): Show c.349-754_349-753insTATATATATATATATATATATATATA	MYH2	ENSG00000125414.19	transcript	ENST00000245503.10	protein_coding	4/39			chr17	TogoVar
MYH2_chr17_10516148_10554658	10546256	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19057.hp1 HG03209.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0180 a0001c0002t0001g0074 a0001c0001t0001g0180 a0001c0002t0001g0074	2	352	0.0057	26	c.349 others(41): Show c.349-780_349-755dupATATATATATATATATATATATATAT	MYH2	ENSG00000125414.19	transcript	ENST00000245503.10	protein_coding	4/39			chr17	TogoVar
MYH7_chr14_23407740_23440660	23422574	C C	CCTTTCTT others(19): Show CCTTTCTTTCTTTCTTTCTTTCCCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02886.hp1 HG01109.hp1 HG01884.hp2 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0129 a0001c0004t0001g0219 a0001c0004t0001g0220 a0001c0004t0001g0129 a0001c0004t0001g0219 a0001c0004t0001g0220	3	346	0.0087	26	c.310 others(43): Show c.3100-250_3100-249insAAAGGGAAAGAAAGAAAGAAAGAAAG	MYH7	ENSG00000092054.13	transcript	ENST00000355349.4	protein_coding	24/39			chr14	TogoVar
MYL5_chr4_669542_687028	670206	A A	AGAAAATG others(19): Show AGAAAATGACTGAAGATCATTCTGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	412	0.0024	26	c.-47 others(37): Show c.-4720_-4719insGAAAATGACTGAAGATCATTCTGGAT	MYL5	ENSG00000215375.7	transcript	ENST00000400159.7	protein_coding		4335		chr4	TogoVar
MYLK4_chr6_2658637_2755922	2699282	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0372 a0001c0001t0006g0372	1	384	0.0026	26	c.160 others(43): Show c.160-6424_160-6423insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2725577	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG02258.hp2 others(2): Show HG00280.hp2 HG00733.hp1 HG02258.hp2 HG02630.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0023 a0001c0001t0041 others(2): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0041 a0001c0001t0073 a0002c0002t0001	a0001c0001t0003g0182 a0001c0001t0023g0142 a0001c0001t0041g0185 others(2): Show a0001c0001t0003g0182 a0001c0001t0023g0142 a0001c0001t0041g0185 a0001c0001t0073g0177 a0002c0002t0001g0261	5	384	0.0130	26	c.159 others(45): Show c.159+23558_159+23559insCTTTCTTTCTTTCTTTCTTTCTTTCT	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK_chr3_123605049_123889332	123677918	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0004 a0016c0034t0004	a0016c0034t0004g0138 a0016c0034t0004g0138	1	156	0.0064	26	c.365 others(45): Show c.3652+4305_3652+4306insGTGTATATATATATATATATATATAT	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding	20/33			chr3	TogoVar
MYO16_chr13_108624611_109213005	108753370	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 NA18906.hp1 HG02965.hp1 HG03098.hp1 NA18906.hp1	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0069 a0005c0037 a0012c0054 a0002c0069 a0005c0037 a0012c0054	a0002c0069t0022 a0005c0037t0016 a0012c0054t0001 a0002c0069t0022 a0005c0037t0016 a0012c0054t0001	a0002c0069t0022g0073 a0005c0037t0016g0133 a0012c0054t0001g0020 a0002c0069t0022g0073 a0005c0037t0016g0133 a0012c0054t0001g0020	3	152	0.0197	26	c.507 others(45): Show c.507+25812_507+25813insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	4/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972205	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0007 a0001c0065t0007	a0001c0065t0007g0071 a0001c0065t0007g0071	1	152	0.0066	26	c.236 others(45): Show c.2369+7323_2369+7348dupCTCTCTCTCTCTCTCTCTCTCTCTCT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTAT others(19): Show CTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	152	0.0066	26	c.236 others(45): Show c.2369+7348_2369+7349insCTCTATATATATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(19): Show CTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0004 a0007c0006t0004	a0007c0006t0004g0138 a0007c0006t0004g0138	1	152	0.0066	26	c.236 others(45): Show c.2369+7348_2369+7349insCTCTCTATATATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03516.hp2 HG01109.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0007 a0002c0001t0001g0126 a0001c0002t0001g0007 a0002c0001t0001g0126	2	152	0.0132	26	c.236 others(45): Show c.2369+7348_2369+7349insCTCTCTCTATATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0011 a0003c0042t0011	a0003c0042t0011g0113 a0003c0042t0011g0113	1	152	0.0066	26	c.236 others(45): Show c.2369+7348_2369+7349insCTCTCTCTCTATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0041 a0001c0002t0012g0041	1	152	0.0066	26	c.236 others(45): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	20/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	108972249	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19010.hp2 NA18522.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0004 a0001c0002t0002 a0001c0008t0004	a0001c0002t0002g0027 a0001c0008t0004g0019 a0001c0002t0002g0027 a0001c0008t0004g0019	2	152	0.0132	26	c.236 others(45): Show c.2369+7348_2369+7349insCTCTCTCTCTCTCTCTATATATATAT	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(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0029 a0001 a0029	a0001c0002 a0029c0039 a0001c0002 a0029c0039	a0001c0002t0002 a0029c0039t0001 a0001c0002t0002 a0029c0039t0001	a0001c0002t0002g0090 a0029c0039t0001g0141 a0001c0002t0002g0090 a0029c0039t0001g0141	2	152	0.0132	26	c.259 others(45): Show c.2595+1927_2595+1928insATATATATATATATATATATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109023374	A A	ATATATTA others(19): Show ATATATTATACAGATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG01243.hp1 HG03486.hp2	a0002 a0005 a0002 a0005	a0002c0009 a0005c0013 a0002c0009 a0005c0013	a0002c0009t0003 a0005c0013t0003 a0002c0009t0003 a0005c0013t0003	a0002c0009t0003g0003 a0005c0013t0003g0029 a0002c0009t0003g0003 a0005c0013t0003g0029	2	152	0.0132	26	c.279 others(45): Show c.2796+3465_2796+3490dupATATTATACAGATATAAATATATATT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109023704	T T	TATATATA others(19): Show TATATATACAAATATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	152	0.0066	26	c.279 others(45): Show c.2796+3803_2796+3828dupAATATATGTATATATGCATATATACA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109040385	C C	CACAGAGA others(19): Show CACAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG02523.hp1 others(3): Show HG00673.hp1 HG00673.hp2 HG02523.hp1 HG02523.hp2 HG02976.hp1 NA19074.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0019	a0001c0016 a0002c0001 a0004c0003 others(1): Show a0001c0016 a0002c0001 a0004c0003 a0019c0029	a0001c0016t0001 a0002c0001t0004 a0004c0003t0001 others(3): Show a0001c0016t0001 a0002c0001t0004 a0004c0003t0001 a0004c0003t0002 a0004c0003t0005 a0019c0029t0001	a0001c0016t0001g0061 a0002c0001t0004g0017 a0004c0003t0001g0115 others(3): Show a0001c0016t0001g0061 a0002c0001t0004g0017 a0004c0003t0001g0115 a0004c0003t0002g0083 a0004c0003t0005g0149 a0019c0029t0001g0120	6	152	0.0395	26	c.279 others(45): Show c.2797-6530_2797-6529insCAGAGAGAGAGAGAGAGAGAGAGAGA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109040385	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0089 a0002c0001t0002g0089	1	152	0.0066	26	c.279 others(45): Show c.2797-6525_2797-6500dupGAGAGAGAGAGAGAGAGAGAGAGAGA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109176577	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0152 a0013c0018t0001g0152	1	152	0.0066	26	c.532 others(45): Show c.5324-2941_5324-2940insAAAAAAAAAAAAAAAAAAAAAAAAAA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18A_chr17_29066122_29185398	29116613	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0027 a0002c0006t0027	a0002c0006t0027g0198 a0002c0006t0027g0198	1	306	0.0033	26	c.203 others(43): Show c.2039-159_2039-158insTGTGTGTGTGTGTGTGTGTGTGTGTG	MYO18A	ENSG00000196535.20	transcript	ENST00000527372.7	protein_coding	10/41			chr17	TogoVar
MYO18A_chr17_29066122_29185398	29154121	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19091.hp2 NA19063.hp2 NA19091.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0021 a0001c0003 a0008c0021	a0001c0003t0001 a0008c0021t0001 a0001c0003t0001 a0008c0021t0001	a0001c0003t0001g0051 a0008c0021t0001g0160 a0001c0003t0001g0051 a0008c0021t0001g0160	2	306	0.0065	26	c.999 others(45): Show c.999+11820_999+11821insGCGCGCACACACACACACACACACAC	MYO18A	ENSG00000196535.20	transcript	ENST00000527372.7	protein_coding	2/41			chr17	TogoVar
MYO18B_chr22_25737188_26036045	25950518	A A	ATGTGTGT others(19): Show ATGTGTGTGTATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp2 HG02280.hp1 HG03139.hp2	a0006 a0008 a0006 a0008	a0006c0084 a0008c0026 a0006c0084 a0008c0026	a0006c0084t0001 a0008c0026t0001 a0006c0084t0001 a0008c0026t0001	a0006c0084t0001g0089 a0008c0026t0001g0116 a0006c0084t0001g0089 a0008c0026t0001g0116	2	228	0.0088	26	c.583 others(41): Show c.5832+77_5832+78insATGTGTGTGTGTGTGTGTGTGTGTGT	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	37/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25997978	C C	CACACACA others(19): Show CACACACACACACACGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG02818.hp2 others(5): Show HG02145.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp1	a0004 a0009 a0026 others(2): Show a0004 a0009 a0026 a0054 a0074	a0004c0079 a0009c0018 a0009c0044 others(5): Show a0004c0079 a0009c0018 a0009c0044 a0009c0058 a0009c0094 a0026c0091 a0054c0123 a0074c0129	a0004c0079t0002 a0009c0018t0008 a0009c0044t0002 others(5): Show a0004c0079t0002 a0009c0018t0008 a0009c0044t0002 a0009c0058t0002 a0009c0094t0002 a0026c0091t0002 a0054c0123t0001 a0074c0129t0002	a0004c0079t0002g0103 a0009c0018t0008g0114 a0009c0044t0002g0072 others(5): Show a0004c0079t0002g0103 a0009c0018t0008g0114 a0009c0044t0002g0072 a0009c0058t0002g0111 a0009c0094t0002g0120 a0026c0091t0002g0082 a0054c0123t0001g0073 a0074c0129t0002g0028	8	228	0.0351	26	c.628 others(45): Show c.6288-5287_6288-5286insACACACACACACACGAGAGAGAGAGA	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	40/43			chr22	TogoVar
MYO1B_chr2_191240404_191430386	191260254	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18994.hp1 HG00735.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0001 a0001c0002t0002 a0001c0012t0001	a0001c0002t0002g0072 a0001c0012t0001g0026 a0001c0002t0002g0072 a0001c0012t0001g0026	2	170	0.0118	26	c.-10 others(45): Show c.-10+14641_-10+14642insTTTTTTTTTTTTTTTTTTTTTTTTTT	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(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0091 a0001c0001t0012g0091	1	244	0.0041	26	c.96- others(43): Show c.96-37342_96-37341insTTTTTTTTTTTTTTTTTTTTTTTTTT	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	1/21			chr17	TogoVar
MYO1E_chr15_59127434_59377871	59216643	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03130.hp1 HG01346.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0212 a0001c0002t0003g0085 a0001c0002t0001g0212 a0001c0002t0003g0085	2	226	0.0089	26	c.110 others(45): Show c.1107+1247_1107+1248insACACACACACACACACACACACACAC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	10/27			chr15	TogoVar

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