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
MYCBPAP_chr17_50503439_50536501	50522709	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0259 a0002c0003t0001g0259	1	376	0.0027	35	c.125 others(52): Show c.1258-229_1258-228insATATATATATATATATATATATATATAT ATATATA	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYDGF_chr19_4652545_4675342	4672256	T T	TATATTCA others(28): Show TATATTCATATATTCATATTACTTATATATATATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 NA19082.hp2 HG02273.hp1 NA19082.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0072 a0002c0003t0002g0052 a0002c0003t0001g0072 a0002c0003t0002g0052	2	410	0.0049	35	c.-19 others(46): Show c.-1923_-1922insGAATATATATATAAGTAATATGAATATATGAATA T	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1915		chr19	TogoVar
MYH11_chr16_15698135_15862028	15712882	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0098 a0002c0001t0001g0098	1	297	0.0034	35	c.578 others(54): Show c.5786+2026_5786+2027insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MYH11	ENSG00000133392.18	transcript	ENST00000300036.6	protein_coding	40/40			chr16	TogoVar
MYH14_chr19_50198622_50315540	50273599	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0007 a0007	a0007c0109 a0007c0109	a0007c0109t0002 a0007c0109t0002	a0007c0109t0002g0183 a0007c0109t0002g0183	1	298	0.0034	35	c.346 others(52): Show c.3467+868_3467+869insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGT	MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	27/42			chr19	TogoVar
MYH15_chr3_108375368_108515596	108435695	T T	TATATATA others(28): Show TATATATATATATATATGTATGTATATTTTATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02486.hp1 HG02723.hp1 others(2): Show HG00738.hp2 HG02486.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 others(1): Show a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0004c0004t0009	a0004c0004t0002g0193 a0004c0004t0003g0017 a0004c0004t0004g0194 others(2): Show a0004c0004t0002g0193 a0004c0004t0003g0017 a0004c0004t0004g0194 a0004c0004t0004g0195 a0004c0004t0009g0183	5	306	0.0163	35	c.322 others(54): Show c.3221+1858_3221+1859insGTATATAAAATATACATACATATATA TATATATAT	MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	25/40			chr3	TogoVar
MYH1_chr17_10487307_10523542	10495760	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	360	0.0028	35	c.516 others(52): Show c.5169+189_5169+190insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MYH1	ENSG00000109061.10	transcript	ENST00000226207.6	protein_coding	35/39			chr17	TogoVar
MYH3_chr17_10623532_10662309	10624136	A A	AATACATG others(28): Show AATACATGTACAAGGCAGATGAATACATGTCATAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01891.hp2 HG02145.hp2 others(6): Show HG00639.hp1 HG01891.hp2 HG02145.hp2 HG02559.hp2 HG02615.hp2 HG02922.hp1 HG03209.hp1 HG03453.hp2 NA21309.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0229 a0004c0007t0001g0230 a0004c0007t0001g0231 others(6): Show a0004c0007t0001g0229 a0004c0007t0001g0230 a0004c0007t0001g0231 a0004c0007t0001g0232 a0004c0007t0001g0233 a0004c0007t0001g0234 a0004c0007t0001g0235 a0004c0007t0001g0236 a0004c0007t0001g0237	9	380	0.0237	35	c.45 others(46): Show c.4516_*4517insCCTATGACATGTATTCATCTGCCTTGTACATGTA T	MYH3	ENSG00000109063.15	transcript	ENST00000583535.6	protein_coding		4395		chr17	TogoVar
MYH8_chr17_10385322_10426950	10398994	G G	GTATATAT others(28): Show GTATATATATATATATATATATATACAAGTTGTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0005 a0003c0010t0005	a0003c0010t0005g0187 a0003c0010t0005g0187	1	324	0.0031	35	c.386 others(52): Show c.3863-143_3863-109dupTATACAACTTGTATATATATATATATAT ATATATA	MYH8	ENSG00000133020.4	transcript	ENST00000403437.2	protein_coding	28/39			chr17	TogoVar
MYNN_chr3_169768396_169794716	169770903	A A	AATATATA others(28): Show AATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01074.hp1 HG01069.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	2	350	0.0057	35	c.-25 others(46): Show c.-2591_-2590insATATATAAAAATTTATATTTATATATCATAAATA T	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2492		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770930	A A	AATATATA others(28): Show AATATATAAAAATTTATATTTAGATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	35	c.-25 others(46): Show c.-2564_-2563insATATATAAAAATTTATATTTAGATATCATAAATA T	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2465		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770930	A A	AATATATA others(28): Show AATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01256.hp2 others(4): Show HG00738.hp1 HG01069.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG02523.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023	7	350	0.0200	35	c.-25 others(46): Show c.-2564_-2563insATATATAAAAATTTATATTTATATATCATAAATA T	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2465		chr3	TogoVar
MYO18B_chr22_25737188_26036045	25945777	G G	GCCTCCCC others(28): Show GCCTCCCCTCCCCTCCCCTCCCCTCCCCTCGCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp1 NA19043.hp2 others(1): Show HG02559.hp1 HG03195.hp1 NA19043.hp2 NA19240.hp2	a0009 a0058 a0061 others(1): Show a0009 a0058 a0061 a0071	a0009c0018 a0058c0080 a0061c0089 others(1): Show a0009c0018 a0058c0080 a0061c0089 a0071c0101	a0009c0018t0002 a0058c0080t0001 a0061c0089t0002 others(1): Show a0009c0018t0002 a0058c0080t0001 a0061c0089t0002 a0071c0101t0001	a0009c0018t0002g0011 a0058c0080t0001g0109 a0061c0089t0002g0224 others(1): Show a0009c0018t0002g0011 a0058c0080t0001g0109 a0061c0089t0002g0224 a0071c0101t0001g0093	4	228	0.0175	35	c.551 others(52): Show c.5518-336_5518-335insCCCTCGCCTCCCCTCCCCTCCCCTCCCC TCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945812	C C	CGCTCCCC others(28): Show CGCTCCCCTCCCCTCGCCTCCCCTCCCCTCCCCTCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03831.hp2 NA18979.hp1 HG02523.hp2 HG03831.hp2 NA18979.hp1	a0003 a0004 a0022 a0003 a0004 a0022	a0003c0014 a0004c0007 a0022c0149 a0003c0014 a0004c0007 a0022c0149	a0003c0014t0001 a0004c0007t0001 a0022c0149t0001 a0003c0014t0001 a0004c0007t0001 a0022c0149t0001	a0003c0014t0001g0055 a0004c0007t0001g0086 a0022c0149t0001g0192 a0003c0014t0001g0055 a0004c0007t0001g0086 a0022c0149t0001g0192	3	228	0.0132	35	c.551 others(52): Show c.5518-325_5518-324insGCTCCCCTCCCCTCGCCTCCCCTCCCCT CCCCTCG	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43			chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945857	G G	GCCTCCCC others(28): Show GCCTCCCCTCCCCTCGCCTCCCCTCCCCTCGCCTCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp1 HG02895.hp2 HG03579.hp1	a0009 a0030 a0009 a0030	a0009c0058 a0030c0028 a0009c0058 a0030c0028	a0009c0058t0002 a0030c0028t0001 a0009c0058t0002 a0030c0028t0001	a0009c0058t0002g0111 a0030c0028t0001g0117 a0009c0058t0002g0111 a0030c0028t0001g0117	2	228	0.0088	35	c.551 others(52): Show c.5518-266_5518-265insGCCTCCCCTCCCCTCGCCTCCCCTCCCC TCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGAGGGGG others(28): Show GGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	226	0.0044	35	c.4-1 others(50): Show c.4-10480_4-10479insTCCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0054 a0001c0002t0005g0054	1	226	0.0044	35	c.4-4 others(50): Show c.4-47102_4-47101insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0214 a0001c0004t0001g0214	1	312	0.0032	35	c.194 others(52): Show c.1949+324_1949+325insAAAAAAATATATATATATATATATATAT ATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18944.hp2 NA18974.hp2 others(1): Show HG02602.hp1 NA18944.hp2 NA18974.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0049 a0001c0001t0073 a0001c0001t0001 a0001c0001t0049 a0001c0001t0073	a0001c0001t0001g0186 a0001c0001t0001g0229 a0001c0001t0049g0225 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0229 a0001c0001t0049g0225 a0001c0001t0073g0233	4	302	0.0133	35	c.220 others(54): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO7A_chr11_77123246_77220241	77193080	T T	TGATGGTG others(28): Show TGATGGTGTTGTTGGTGATGGTGGAGGTGGTGTTGG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0260 a0007c0011t0001g0260	1	356	0.0028	35	c.415 others(52): Show c.4152+802_4152+803insGATGGTGTTGTTGGTGATGGTGGAGGTG GTGTTGG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48			chr11	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18952.hp2 HG02004.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0222 a0001c0001t0001g0167 a0001c0001t0001g0222	2	308	0.0065	35	c.256 others(54): Show c.2562+5613_2562+5614insAAAAATATATATATATATATATATAT ATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp1 HG02572.hp2 HG03209.hp1	a0007 a0016 a0007 a0016	a0007c0008 a0016c0029 a0007c0008 a0016c0029	a0007c0008t0005 a0016c0029t0022 a0007c0008t0005 a0016c0029t0022	a0007c0008t0005g0207 a0016c0029t0022g0220 a0007c0008t0005g0207 a0016c0029t0022g0220	2	308	0.0065	35	c.218 others(54): Show c.2182+3570_2182+3571insATATATATATATATATATATATATAT ATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYOF_chr10_93301429_93487334	93478832	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0031 a0001c0018t0001g0031	1	240	0.0042	35	c.88+ others(50): Show c.88+3274_88+3275insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOF_chr10_93301429_93487334	93478836	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	240	0.0042	35	c.88+ others(50): Show c.88+3270_88+3271insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	1/53			chr10	TogoVar
MYOM2_chr8_2040046_2150456	2102516	T T	TTCCCTCC others(28): Show TTCCCTCCTTTTCTAACTCATTAAGTATCATTTTCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02683.hp2 HG03490.hp2 others(2): Show HG01516.hp2 HG02683.hp2 HG03490.hp2 HG03492.hp2 NA20752.hp1	a0004 a0055 a0058 a0004 a0055 a0058	a0004c0007 a0055c0169 a0058c0150 a0004c0007 a0055c0169 a0058c0150	a0004c0007t0001 a0055c0169t0001 a0058c0150t0001 a0004c0007t0001 a0055c0169t0001 a0058c0150t0001	a0004c0007t0001g0236 a0004c0007t0001g0262 a0004c0007t0001g0263 others(2): Show a0004c0007t0001g0236 a0004c0007t0001g0262 a0004c0007t0001g0263 a0055c0169t0001g0019 a0058c0150t0001g0036	5	403	0.0124	35	c.262 others(52): Show c.2620-149_2620-115dupCCCTCCTTTTCTAACTCATTAAGTATCA TTTTCCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	20/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120685	T T	TATATATA others(28): Show TATATATATATATATATATATAAATATATATTTATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0131 a0003c0001t0001g0131	1	403	0.0025	35	c.345 others(54): Show c.3454-2564_3454-2563insTATATATATATATATATAAATATATA TTTATAATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOZ2_chr4_119130832_119192789	119134260	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG01070.hp2 others(4): Show HG00140.hp2 HG00738.hp1 HG01070.hp2 HG01243.hp2 HG03834.hp1 NA18906.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0068 a0001c0001t0002g0117 a0001c0001t0003g0029 others(4): Show a0001c0001t0002g0068 a0001c0001t0002g0117 a0001c0001t0003g0029 a0001c0001t0003g0148 a0001c0001t0003g0176 a0001c0002t0001g0006 a0001c0002t0001g0238	7	394	0.0178	35	c.-17 others(46): Show c.-1737_-1736insGATAGATAGATAGATAGATAGATAGATAGATAGA T	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1571		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG01243.hp1 others(13): Show HG00673.hp2 HG01106.hp1 HG01243.hp1 HG01258.hp2 HG01346.hp2 HG02027.hp1 HG02083.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG03195.hp1 HG03239.hp2 HG03492.hp2 HG04115.hp1 NA18955.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0003g0131 others(13): Show a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0180 a0001c0001t0005g0028 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0002g0303	16	394	0.0406	35	c.-17 others(46): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGATAGA T	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134264	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	394	0.0025	35	c.-17 others(46): Show c.-1733_-1732insGATAGATAGATAGATAGATAGATAGATAGATGGA T	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1567		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134268	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG02056.hp2 others(12): Show HG00323.hp2 HG00408.hp2 HG02056.hp2 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02738.hp1 HG06807.hp1 NA18522.hp1 NA18982.hp2 NA18985.hp1 NA19059.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0008	a0001c0001t0001g0061 a0001c0001t0001g0219 a0001c0001t0001g0220 others(11): Show a0001c0001t0001g0061 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0263 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0002t0001g0006 a0001c0002t0001g0042 a0001c0004t0008g0223	15	394	0.0381	35	c.-17 others(46): Show c.-1729_-1728insGATAGATAGATAGATAGATAGATAGATAGATAGA T	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1563		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134268	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA19070.hp1 NA18998.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0259 a0001c0001t0001g0260	2	394	0.0051	35	c.-17 others(46): Show c.-1729_-1728insGATAGATAGATAGATAGATAGATAGATAGATGGA T	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1563		chr4	TogoVar
MYOZ2_chr4_119130832_119192789	119134272	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	394	0.0025	35	c.-17 others(46): Show c.-1725_-1724insGATAGATAGATAGATAGATAGATAGATAGATAGA T	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding		1559		chr4	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0240 a0002c0005t0006g0240	1	410	0.0024	35	c.68+ others(50): Show c.68+1882_68+1883insAAAAAAAAAAAAATATATATATATATATAT ATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03704.hp2 HG04115.hp2 others(7): Show HG03654.hp1 HG03704.hp2 HG04115.hp2 NA18961.hp1 NA18970.hp2 NA18974.hp2 NA19002.hp1 NA19005.hp1 NA19078.hp1 NA19082.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0002c0005 a0009c0012 a0002c0002 a0002c0005 a0009c0012	a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 others(3): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0013 a0002c0002t0042 a0002c0005t0006 a0009c0012t0048	a0002c0002t0002g0008 a0002c0002t0002g0119 a0002c0002t0005g0116 others(6): Show a0002c0002t0002g0008 a0002c0002t0002g0119 a0002c0002t0005g0116 a0002c0002t0005g0117 a0002c0002t0013g0118 a0002c0002t0013g0121 a0002c0002t0042g0120 a0002c0005t0006g0235 a0009c0012t0048g0168	10	410	0.0244	35	c.68+ others(50): Show c.68+1882_68+1883insAAAAAAAAAAAAAAATATATATATATATAT ATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18972.hp2 HG01346.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0101 a0002c0002t0014g0102 a0002c0002t0002g0101 a0002c0002t0014g0102	2	410	0.0049	35	c.68+ others(50): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAATATATATATATAT ATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(28): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18981.hp2 NA18983.hp1 others(5): Show HG02055.hp2 NA18981.hp2 NA18983.hp1 NA19005.hp2 NA19011.hp2 NA19060.hp1 NA19062.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 others(4): Show a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0005g0007 a0002c0002t0005g0067 a0002c0002t0005g0068 a0002c0002t0005g0072	8	410	0.0195	35	c.68+ others(50): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAAATATATATATAT ATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYT1_chr20_64159452_64247253	64201965	C C	CCGTGTGT others(28): Show CCGTGTGTCGGGAACCCCCGCGTGTCGGGAACCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	223	0.0045	35	c.86+ others(50): Show c.86+2045_86+2046insTGTGTCGGGAACCCCCGCGTGTCGGGAACC CCTCG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64202017	T T	TCGCGTGT others(28): Show TCGCGTGTCGGGAACCCCTCGCGTGTCGGGAACCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	223	0.0045	35	c.86+ others(50): Show c.86+2112_86+2113insTCGCGTGTCGGGAACCCCCGCGTGTCGGGA ACCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688370	A A	AATATGTG others(28): Show AATATGTGTGTACAATATACACATATAATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA19086.hp2 NA18979.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0300 a0001c0001t0001g0261 a0001c0001t0001g0300	2	352	0.0057	35	c.38 others(46): Show c.3872_*3873insATATGTGTGTACAATATACACATATAATATAAAA T	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3007		chr15	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTCAG others(28): Show CAGTTCAGTTTAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02559.hp1 others(1): Show HG01884.hp1 HG02486.hp1 HG02559.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0110 a0001c0001t0003g0165 a0001c0001t0007g0164 others(1): Show a0001c0001t0003g0110 a0001c0001t0003g0165 a0001c0001t0007g0164 a0001c0001t0007g0328	4	334	0.0120	35	c.54+ others(52): Show c.54+13171_54+13172insCAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTTAG others(28): Show CAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02572.hp2 HG02622.hp2 others(8): Show HG00621.hp1 HG02572.hp2 HG02622.hp2 HG03098.hp1 HG03130.hp2 HG04199.hp2 NA18992.hp2 NA19070.hp1 NA19072.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(3): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033	a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0167 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0010g0127 a0001c0001t0010g0153 a0001c0001t0030g0126 a0001c0001t0032g0125 a0001c0001t0033g0166	11	334	0.0329	35	c.54+ others(52): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGTTT AGTTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(28): Show TTTAGTTTAGTTTAGGTTAGGTTAGGTTAGGTTAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02074.hp1 NA19000.hp1 others(1): Show HG02027.hp2 HG02074.hp1 NA19000.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0002g0198 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0002g0198 a0001c0001t0002g0201	4	334	0.0120	35	c.54+ others(52): Show c.54+13179_54+13180insTTTAGTTTAGGTTAGGTTAGGTTAGGTT AGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(28): Show TTTAGTTTAGTTTAGTTTAGGTTAGGTTAGGTTAGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19074.hp1 NA18951.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0206 a0001c0001t0025g0323 a0001c0001t0001g0206 a0001c0001t0025g0323	2	334	0.0060	35	c.54+ others(52): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGGTTAGGTTAGGTT AGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(28): Show TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGGTTAGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	334	0.0030	35	c.54+ others(52): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGGTT AGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(28): Show TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG03654.hp1 others(2): Show HG00140.hp1 HG01358.hp1 HG03654.hp1 HG03942.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0268 a0001c0001t0001g0291 a0001c0001t0001g0292 others(2): Show a0001c0001t0001g0268 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0002g0293	5	334	0.0150	35	c.54+ others(52): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGTTT AGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315010	G G	GTTTAGTT others(28): Show GTTTAGTTTAGTTTAGTTTAGTTTAGGTTAGGTTAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18941.hp2 NA18959.hp2 others(1): Show NA18940.hp1 NA18941.hp2 NA18959.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 others(1): Show a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326	4	334	0.0120	35	c.54+ others(52): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAGGTT AGGTTAA	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19			chr4	TogoVar
NAA80_chr3_50291402_50304405	50302766	T T	TGGGGGGG others(28): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	35	c.-37 others(46): Show c.-3764_-3763insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC C	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		3362		chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175013167	G G	GTAAAATA others(28): Show GTAAAATATATTTATATATATATATACATAAATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02922.hp2 others(1): Show HG01109.hp1 HG02451.hp1 HG02922.hp2 NA19043.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0004 a0003c0007 a0005c0006 a0002c0004 a0003c0007 a0005c0006	a0002c0004t0033 a0003c0007t0024 a0005c0006t0001 others(1): Show a0002c0004t0033 a0003c0007t0024 a0005c0006t0001 a0005c0006t0020	a0002c0004t0033g0022 a0003c0007t0024g0049 a0005c0006t0001g0057 others(1): Show a0002c0004t0033g0022 a0003c0007t0024g0049 a0005c0006t0001g0057 a0005c0006t0020g0052	4	64	0.0625	35	c.44- others(52): Show c.44-83620_44-83619insAATATATTTATATATATATATACATAAA TATATAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NABP1_chr2_191673136_191691943	191690439	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	394	0.0025	35	c.46 others(46): Show c.4671_*4672insTATATATATATATATATATATTTTTTTTTTTTTT T	NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding		3497		chr2	TogoVar
NALCN_chr13_101048776_101421508	101345771	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0133 a0001c0003t0001g0133	1	176	0.0057	35	c.645 others(50): Show c.645-352_645-351insTATATATATATATATATATATATATATATA TATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	6/43			chr13	TogoVar
NALF1_chr13_107158510_107872496	107340475	T T	TTCTTTCT others(28): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02280.hp2 HG04228.hp1 HG00738.hp2 HG02280.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0052 a0001c0001t0062 a0001c0001t0003 a0001c0001t0052 a0001c0001t0062	a0001c0001t0003g0104 a0001c0001t0052g0038 a0001c0001t0062g0027 a0001c0001t0003g0104 a0001c0001t0052g0038 a0001c0001t0062g0027	3	128	0.0234	35	c.916 others(56): Show c.916-129721_916-129720insGAGAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGA	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar

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