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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
MYH1_chr17_10487307_10523542	10495760	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00735.hp1 others(25): Show HG00408.hp1 HG00408.hp2 HG00735.hp1 HG01081.hp1 HG01257.hp1 HG01346.hp2 HG01993.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02738.hp1 HG03209.hp1 HG03834.hp1 NA18943.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18962.hp1 NA18983.hp2 NA18989.hp1 NA18991.hp2 NA18998.hp2 NA19001.hp2 NA19030.hp1 NA19060.hp2 NA19080.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0014	a0001c0001 a0001c0008 a0001c0010 others(4): Show a0001c0001 a0001c0008 a0001c0010 a0002c0003 a0002c0009 a0008c0037 a0014c0035	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 others(4): Show a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0002c0003t0001 a0002c0009t0001 a0008c0037t0002 a0014c0035t0001	a0001c0001t0001g0023 a0001c0001t0001g0101 a0001c0001t0001g0102 others(18): Show a0001c0001t0001g0023 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0192 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0008t0001g0046 a0001c0010t0001g0045 a0002c0003t0001g0026 a0002c0003t0001g0044 a0002c0009t0001g0122 a0008c0037t0002g0054 a0014c0035t0001g0224	28	360	0.0778	25	c.516 others(42): Show c.5169+189_5169+190insTTTTTTTTTTTTTTTTTTTTTTTTT	MYH1	ENSG00000109061.10	transcript	ENST00000226207.6	protein_coding	35/39			chr17	TogoVar
MYH1_chr17_10487307_10523542	10495760	C C	CAAAAAAA others(18): Show CAAAAAAAAAATAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	360	0.0028	25	c.516 others(42): Show c.5169+189_5169+190insTTTTTTTTTTTTTTATTTTTTTTTT	MYH1	ENSG00000109061.10	transcript	ENST00000226207.6	protein_coding	35/39			chr17	TogoVar
MYLK_chr3_123605049_123889332	123884356	A A	AGGGCGGG others(18): Show AGGGCGGGGCGGGGCGGGGCAGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	156	0.0064	25	c.-33 others(34): Show c.-337_-336insCGCCCTGCCCCGCCCCGCCCCGCCC	MYLK	ENSG00000065534.20	transcript	ENST00000360304.8	protein_coding		25		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770630	A A	ATATATAA others(18): Show ATATATAAAAATTTATATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	25	c.-28 others(36): Show c.-2864_-2863insTATATAAAAATTTATATTTATATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2765		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771269	T T	TATAAAAA others(18): Show TATAAAAATTTGTTTATATATAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	350	0.0029	25	c.-22 others(36): Show c.-2225_-2224insATAAAAATTTGTTTATATATAATAA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2126		chr3	TogoVar
MYO10_chr5_16656907_16941288	16662316	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0121 a0002c0002t0121	a0002c0002t0121g0049 a0002c0002t0121g0049	1	272	0.0037	25	c.43 others(36): Show c.4375_*4376insAAAAAAAAAAAAAAAAAAAAAAAAA	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	41/41	4375		chr5	TogoVar
MYO10_chr5_16656907_16941288	16921132	G G	GATAAAAT others(18): Show GATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 HG02895.hp2 others(6): Show HG01884.hp1 HG02559.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0023 a0026	a0001c0001 a0001c0022 a0002c0002 others(4): Show a0001c0001 a0001c0022 a0002c0002 a0009c0014 a0009c0066 a0023c0035 a0026c0040	a0001c0001t0161 a0001c0022t0157 a0002c0002t0160 others(5): Show a0001c0001t0161 a0001c0022t0157 a0002c0002t0160 a0009c0014t0037 a0009c0014t0159 a0009c0066t0156 a0023c0035t0158 a0026c0040t0162	a0001c0001t0161g0269 a0001c0022t0157g0265 a0002c0002t0160g0267 others(6): Show a0001c0001t0161g0269 a0001c0022t0157g0265 a0002c0002t0160g0267 a0009c0014t0037g0266 a0009c0014t0037g0272 a0009c0014t0159g0264 a0009c0066t0156g0271 a0023c0035t0158g0268 a0026c0040t0162g0270	9	272	0.0331	25	c.21+ others(42): Show c.21+14631_21+14655dupTTTATTTTATTTTATTTTATTTTAT	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	1/40			chr5	TogoVar
MYO16_chr13_108624611_109213005	109022291	A A	AATATACA others(18): Show AATATACAAATATATATTTATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0091 a0001c0025t0004g0091	1	152	0.0066	25	c.279 others(44): Show c.2796+2422_2796+2446dupTTATATATTATATACAAATATATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109023709	A A	ATACATAT others(18): Show ATACATATATATATATATGTATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0085 a0002c0001t0002g0085	1	152	0.0066	25	c.279 others(44): Show c.2796+3802_2796+3803insTATATATATATATGTATATATTACA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109040416	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19057.hp2 NA18964.hp1 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0101 a0002c0001t0002g0143 a0001c0002t0002g0101 a0002c0001t0002g0143	2	152	0.0132	25	c.279 others(44): Show c.2797-6500_2797-6499insGAGAGAGAGAGAGAGAGAGAGAGAG	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34			chr13	TogoVar
MYO16_chr13_108624611_109213005	109107810	C C	CATATTAT others(18): Show CATATTATATTATATTATATTATATT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0108 a0003c0004t0002g0108	1	152	0.0066	25	c.343 others(44): Show c.3438+6933_3438+6957dupTATATTATATTATATTATATTATAT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	28/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO16_chr13_108624611_109213005	109176577	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0013 a0029 a0013 a0029	a0013c0018 a0029c0039 a0013c0018 a0029c0039	a0013c0018t0001 a0029c0039t0001 a0013c0018t0001 a0029c0039t0001	a0013c0018t0001g0134 a0029c0039t0001g0141 a0013c0018t0001g0134 a0029c0039t0001g0141	2	152	0.0132	25	c.532 others(44): Show c.5324-2941_5324-2940insAAAAAAAAAAAAAAAAAAAAAAAAA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18B_chr22_25737188_26036045	25944352	C C	CAGGGGCT others(18): Show CAGGGGCTGGAAAAGGGGGTTTTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0038 a0005c0009t0001g0038	1	228	0.0044	25	c.551 others(44): Show c.5518-1782_5518-1758dupGGGCTGGAAAAGGGGGTTTTGTGAG	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945732	G G	GCCTCCCC others(18): Show GCCTCCCCTCCCCTCCCCTCGCCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0017 a0017	a0017c0126 a0017c0126	a0017c0126t0001 a0017c0126t0001	a0017c0126t0001g0165 a0017c0126t0001g0165	1	228	0.0044	25	c.551 others(42): Show c.5518-396_5518-395insCCCTCCCCTCGCCTCCCCTCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO18B_chr22_25737188_26036045	25945762	G G	GCCTCCCC others(18): Show GCCTCCCCTCCCCTCGCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0085 a0012c0015t0001g0085	1	228	0.0044	25	c.551 others(42): Show c.5518-310_5518-286dupGCCTCCCCTCCCCTCCCCTCCCCTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1B_chr2_191240404_191430386	191260254	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03831.hp1 NA18941.hp1 others(2): Show HG00099.hp1 HG03831.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0004t0001g0068 others(2): Show a0001c0002t0002g0067 a0001c0002t0002g0070 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0071	5	170	0.0294	25	c.-10 others(44): Show c.-10+14641_-10+14642insTTTTTTTTTTTTTTTTTTTTTTTTT	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(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01433.hp1 others(1): Show HG00323.hp1 HG00639.hp2 HG01433.hp1 NA18981.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0008c0010t0002	a0001c0001t0001g0064 a0001c0001t0003g0092 a0001c0001t0033g0090 others(1): Show a0001c0001t0001g0064 a0001c0001t0003g0092 a0001c0001t0033g0090 a0008c0010t0002g0107	4	244	0.0164	25	c.96- others(42): Show c.96-37342_96-37341insTTTTTTTTTTTTTTTTTTTTTTTTT	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	1/21			chr17	TogoVar
MYO1E_chr15_59127434_59377871	59193064	A A	ACAGTCTA others(18): Show ACAGTCTAGTTCTTTGCTCTAGATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(124): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01358.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18989.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0002c0008 a0003c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0023 a0001c0001t0034 a0001c0001t0039 a0001c0001t0048 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0032 a0001c0002t0037 a0001c0002t0040 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0003t0016 a0001c0003t0019 a0001c0003t0027 a0001c0003t0033 a0001c0003t0044 a0001c0003t0049 a0001c0003t0052 a0001c0003t0057 a0001c0004t0002 a0001c0004t0006 a0001c0004t0007 a0001c0004t0020 a0001c0004t0021 a0001c0004t0024 a0001c0004t0025 a0001c0004t0030 a0001c0004t0036 a0001c0004t0051 a0001c0004t0053 a0001c0005t0024 a0001c0005t0029 a0001c0006t0003 a0001c0006t0056 a0001c0007t0042 a0001c0010t0012 a0001c0011t0031 a0001c0012t0058 a0001c0015t0028 a0001c0017t0012 a0001c0018t0001 a0001c0019t0001 a0002c0008t0001 a0003c0016t0008	a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0038 others(124): Show a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0002g0092 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0003g0050 a0001c0001t0003g0106 a0001c0001t0004g0051 a0001c0001t0004g0078 a0001c0001t0004g0134 a0001c0001t0004g0194 a0001c0001t0005g0067 a0001c0001t0005g0181 a0001c0001t0008g0052 a0001c0001t0008g0113 a0001c0001t0009g0036 a0001c0001t0009g0135 a0001c0001t0009g0167 a0001c0001t0009g0169 a0001c0001t0014g0013 a0001c0001t0014g0056 a0001c0001t0014g0192 a0001c0001t0023g0189 a0001c0001t0023g0190 a0001c0001t0034g0139 a0001c0001t0039g0180 a0001c0001t0048g0103 a0001c0001t0054g0222 a0001c0002t0001g0057 a0001c0002t0001g0071 a0001c0002t0001g0099 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0130 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0202 a0001c0002t0001g0212 a0001c0002t0002g0044 a0001c0002t0002g0086 a0001c0002t0002g0105 a0001c0002t0002g0145 a0001c0002t0002g0186 a0001c0002t0005g0054 a0001c0002t0005g0076 a0001c0002t0005g0115 a0001c0002t0008g0074 a0001c0002t0010g0004 a0001c0002t0010g0005 a0001c0002t0015g0151 a0001c0002t0017g0006 a0001c0002t0032g0011 a0001c0002t0037g0022 a0001c0002t0040g0107 a0001c0003t0007g0023 a0001c0003t0011g0019 a0001c0003t0011g0165 a0001c0003t0011g0166 a0001c0003t0012g0159 a0001c0003t0016g0039 a0001c0003t0016g0040 a0001c0003t0016g0084 a0001c0003t0019g0140 a0001c0003t0027g0007 a0001c0003t0033g0129 a0001c0003t0044g0132 a0001c0003t0049g0032 a0001c0003t0052g0097 a0001c0003t0057g0224 a0001c0004t0002g0062 a0001c0004t0006g0162 a0001c0004t0006g0171 a0001c0004t0007g0031 a0001c0004t0007g0034 a0001c0004t0007g0147 a0001c0004t0007g0177 a0001c0004t0020g0213 a0001c0004t0021g0087 a0001c0004t0021g0112 a0001c0004t0024g0148 a0001c0004t0025g0017 a0001c0004t0025g0028 a0001c0004t0030g0010 a0001c0004t0036g0020 a0001c0004t0051g0025 a0001c0004t0053g0026 a0001c0005t0024g0117 a0001c0005t0029g0002 a0001c0006t0003g0053 a0001c0006t0056g0225 a0001c0007t0042g0089 a0001c0010t0012g0073 a0001c0011t0031g0012 a0001c0012t0058g0226 a0001c0015t0028g0009 a0001c0017t0012g0157 a0001c0018t0001g0185 a0001c0019t0001g0156 a0002c0008t0001g0100 a0003c0016t0008g0193	127	226	0.5620	25	c.180 others(44): Show c.1805+2396_1805+2397insGGATCTAGAGCAAAGAACTAGACTG	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	17/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59241921	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02486.hp1 others(3): Show HG02055.hp2 HG02145.hp2 HG02486.hp1 HG02818.hp2 HG02965.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0019 a0001c0002 a0001c0004 a0001c0019	a0001c0002t0015 a0001c0004t0002 a0001c0004t0006 others(3): Show a0001c0002t0015 a0001c0004t0002 a0001c0004t0006 a0001c0004t0007 a0001c0004t0020 a0001c0019t0001	a0001c0002t0015g0151 a0001c0004t0002g0152 a0001c0004t0006g0171 others(3): Show a0001c0002t0015g0151 a0001c0004t0002g0152 a0001c0004t0006g0171 a0001c0004t0007g0177 a0001c0004t0020g0213 a0001c0019t0001g0156	6	226	0.0266	25	c.333 others(42): Show c.333-5274_333-5250dupATTTTATTTTATTTTATTTTATTTT	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	4/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59255416	A A	ATGGAGTC others(18): Show ATGGAGTCTCACTCTGTCACTCAGGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	226	0.0044	25	c.332 others(40): Show c.332+843_332+867dupGCCTGAGTGACAGAGTGAGACTCCA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	4/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59257521	C C	CTTACTTA others(18): Show CTTACTTAATCCATCTTTGGATTAAT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0133 a0001c0002t0003g0133	1	226	0.0044	25	c.238 others(42): Show c.238-1144_238-1143insATTAATCCAAAGATGGATTAAGTAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	3/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59268720	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0073 a0001c0010t0012g0073	1	226	0.0044	25	c.147 others(42): Show c.147+3585_147+3586insAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	2/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59319550	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19003.hp1 NA18952.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0056 a0001c0001t0001 a0001c0006t0056	a0001c0001t0001g0094 a0001c0006t0056g0225 a0001c0001t0001g0094 a0001c0006t0056g0225	2	226	0.0089	25	c.4-4 others(40): Show c.4-47126_4-47102dupAAAAAAAAAAAAAAAAAAAAAAAAA	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1E_chr15_59127434_59377871	59353369	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA20805.hp2 HG03195.hp1 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0004t0007 a0001c0002t0004 a0001c0004t0007	a0001c0002t0004g0035 a0001c0004t0007g0034 a0001c0002t0004g0035 a0001c0004t0007g0034	2	226	0.0089	25	c.3+1 others(40): Show c.3+19104_3+19128dupCTTTTCTTTTCTTTTCTTTTCTTTT	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19084.hp2 HG01358.hp2 NA19084.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0160 a0002c0001t0001g0227 a0002c0001t0001g0160 a0002c0001t0001g0227	2	312	0.0064	25	c.194 others(42): Show c.1949+324_1949+325insATATATATATATATATATATATATA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYO1H_chr12_109342900_109453379	109427909	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 NA18952.hp2 HG01516.hp1 HG01517.hp2 NA18952.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0002 a0002c0001 a0003c0002	a0002c0001t0001 a0003c0002t0002 a0002c0001t0001 a0003c0002t0002	a0002c0001t0001g0129 a0002c0001t0001g0130 a0003c0002t0002g0081 a0002c0001t0001g0129 a0002c0001t0001g0130 a0003c0002t0002g0081	3	312	0.0096	25	c.194 others(42): Show c.1949+323_1949+324insTATATATATATATATATATATATAT	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding	19/31			chr12	TogoVar
MYO5A_chr15_52302283_52533880	52378515	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01516.hp1 HG02280.hp2 others(2): Show HG01167.hp1 HG01516.hp1 HG02280.hp2 HG03710.hp2 NA18991.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0013 a0001c0001 a0001c0003 a0006c0013	a0001c0001t0023 a0001c0001t0024 a0001c0001t0058 others(2): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0058 a0001c0003t0025 a0006c0013t0003	a0001c0001t0023g0281 a0001c0001t0024g0232 a0001c0001t0058g0193 others(2): Show a0001c0001t0023g0281 a0001c0001t0024g0232 a0001c0001t0058g0193 a0001c0003t0025g0297 a0006c0013t0003g0208	5	302	0.0166	25	c.220 others(44): Show c.2208+1109_2208+1110insTTTTTTTTTTTTTTTTTTTTTTTTT	MYO5A	ENSG00000197535.16	transcript	ENST00000399233.7	protein_coding	18/41			chr15	TogoVar
MYO5B_chr18_49817789_50200147	50043416	T T	TTAAATAT others(18): Show TTAAATATATTTAAATATATTAAATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	238	0.0042	25	c.139 others(42): Show c.139-3103_139-3102insTATTTAATATATTTAAATATATTTA	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	2/39			chr18	TogoVar
MYO5C_chr15_52187322_52300804	52291731	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02895.hp2 others(1): Show HG01106.hp2 HG02258.hp1 HG02895.hp2 HG03654.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0006c0009	a0001c0001t0009 a0001c0003t0007 a0001c0004t0001 others(1): Show a0001c0001t0009 a0001c0003t0007 a0001c0004t0001 a0006c0009t0002	a0001c0001t0009g0146 a0001c0003t0007g0319 a0001c0004t0001g0147 others(1): Show a0001c0001t0009g0146 a0001c0003t0007g0319 a0001c0004t0001g0147 a0006c0009t0002g0101	4	360	0.0111	25	c.27+ others(40): Show c.27+3854_27+3878dupAAAAAAAAAAAAAAAAAAAAAAAAA	MYO5C	ENSG00000128833.13	transcript	ENST00000261839.12	protein_coding	1/40			chr15	TogoVar
MYO6_chr6_75744239_75924537	75787685	T T	TATATATA others(18): Show TATATATATATGGGGGAATGGAACTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18963.hp2 HG01943.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0011 a0001c0001t0001g0028	2	358	0.0056	25	c.-47 others(44): Show c.-47-29816_-47-29815insATATATATATGGGGGAATGGAACTA	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34			chr6	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20129.hp2 HG03098.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0227 a0001c0001t0001g0228	2	308	0.0065	25	c.268 others(44): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAGAAAGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71906758	C C	CTTTCTTT others(18): Show CTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG01167.hp2 others(8): Show HG00597.hp2 HG01109.hp1 HG01167.hp2 HG02145.hp2 HG02647.hp1 HG03516.hp1 NA18906.hp1 NA18957.hp2 NA18966.hp2 NA18978.hp1 NA20752.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0025 a0001c0001 a0022c0025	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0022c0025t0032	a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0157 others(8): Show a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0233 a0001c0001t0005g0110 a0001c0001t0005g0214 a0001c0001t0005g0218 a0001c0001t0009g0198 a0022c0025t0032g0176	11	308	0.0357	25	c.268 others(44): Show c.2686-1753_2686-1752insAAAAAAAAAAAAAAAAAAAAAGAAA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	19/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19088.hp2 HG02004.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0004 a0001c0001t0030 a0001c0002t0004	a0001c0001t0030g0182 a0001c0002t0004g0069 a0001c0001t0030g0182 a0001c0002t0004g0069	2	308	0.0065	25	c.256 others(44): Show c.2562+5613_2562+5614insATATATATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	308	0.0033	25	c.256 others(44): Show c.2562+5613_2562+5614insAAATATATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02647.hp2 HG02071.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0037 a0001c0002t0044 a0001c0001t0037 a0001c0002t0044	a0001c0001t0037g0117 a0001c0002t0044g0070 a0001c0001t0037g0117 a0001c0002t0044g0070	2	308	0.0065	25	c.256 others(44): Show c.2562+5613_2562+5614insAAAAATATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71928056	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	308	0.0033	25	c.256 others(44): Show c.2562+5613_2562+5614insAAAAAAATATATATATATATATATA	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	18/41			chr15	TogoVar
MYO9A_chr15_71817291_72123150	71956330	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02809.hp1 others(1): Show HG02615.hp2 HG02622.hp2 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 others(1): Show a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0218	4	308	0.0130	25	c.218 others(44): Show c.2182+3570_2182+3571insATATATATATATATATATTTTTTTT	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	14/41			chr15	TogoVar
MYOCD_chr17_12660890_12773949	12693625	G G	GAATAAAA others(18): Show GAATAAAATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	346	0.0029	25	c.56- others(42): Show c.56-11467_56-11443dupAATAAAATAAAATAAAATAAAATAA	MYOCD	ENSG00000141052.18	transcript	ENST00000425538.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MYOF_chr10_93301429_93487334	93354702	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18995.hp2 HG00639.hp1 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0051 a0001c0003 a0001c0051	a0001c0003t0001 a0001c0051t0001 a0001c0003t0001 a0001c0051t0001	a0001c0003t0001g0135 a0001c0051t0001g0059 a0001c0003t0001g0135 a0001c0051t0001g0059	2	240	0.0083	25	c.340 others(42): Show c.3404-815_3404-814insGAGAGAGAGAGAGAGAGAGAGAGAG	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding	31/53			chr10	TogoVar
MYOM1_chr18_3061807_3224968	3064534	T T	TTTATATA others(18): Show TTTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03579.hp2 HG02451.hp2 HG03579.hp2	a0002 a0015 a0002 a0015	a0002c0049 a0015c0069 a0002c0049 a0015c0069	a0002c0049t0001 a0015c0069t0001 a0002c0049t0001 a0015c0069t0001	a0002c0049t0001g0007 a0015c0069t0001g0162 a0002c0049t0001g0007 a0015c0069t0001g0162	2	330	0.0061	25	c.27 others(36): Show c.2727_*2728insTATATATATATATATATATATATAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding		2272		chr18	TogoVar
MYOM2_chr8_2040046_2150456	2085518	C C	CCACTGTC others(18): Show CCACTGTCGTGATCTCTGCGTGGCTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18970.hp2 NA19085.hp2 NA18944.hp2 NA18970.hp2 NA19085.hp2	a0002 a0006 a0087 a0002 a0006 a0087	a0002c0088 a0006c0191 a0087c0081 a0002c0088 a0006c0191 a0087c0081	a0002c0088t0002 a0006c0191t0001 a0087c0081t0001 a0002c0088t0002 a0006c0191t0001 a0087c0081t0001	a0002c0088t0002g0023 a0006c0191t0001g0169 a0087c0081t0001g0316 a0002c0088t0002g0023 a0006c0191t0001g0169 a0087c0081t0001g0316	3	403	0.0074	25	c.164 others(42): Show c.1644+129_1644+130insACTGTCGTGATCTCTGCGTGGCTTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085698	C C	CCCCCACT others(18): Show CCCCCACTGTTGTGATCTTTGCATGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0016 a0016	a0016c0077 a0016c0077	a0016c0077t0001 a0016c0077t0001	a0016c0077t0001g0304 a0016c0077t0001g0304	1	403	0.0025	25	c.164 others(42): Show c.1644+317_1644+318insTGTGATCTTTGCATGGCCCCACTGT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085801	G G	GTGGCCCC others(18): Show GTGGCCCCACTGTCATGATCTCTGCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0261 a0003c0001t0001g0261	1	403	0.0025	25	c.164 others(42): Show c.1644+418_1644+419insACTGTCATGATCTCTGCATGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2120675	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18747.hp2 HG02809.hp1 NA18747.hp2	a0001 a0008 a0001 a0008	a0001c0022 a0008c0008 a0001c0022 a0008c0008	a0001c0022t0001 a0008c0008t0001 a0001c0022t0001 a0008c0008t0001	a0001c0022t0001g0083 a0008c0008t0001g0245 a0001c0022t0001g0083 a0008c0008t0001g0245	2	403	0.0050	25	c.345 others(44): Show c.3454-2577_3454-2576insATATATATATATATATATATATATA	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	28/36			chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067394	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCCTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0128 a0003c0003t0001g0128	1	364	0.0028	25	c.335 others(42): Show c.3356-307_3356-306insAGAAAGAAAGAAGGAAAGAAAGAAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOM3_chr1_24051041_24117135	24075076	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG06807.hp2 HG02055.hp2 HG02258.hp2 HG06807.hp2	a0008 a0021 a0028 a0008 a0021 a0028	a0008c0082 a0021c0028 a0028c0086 a0008c0082 a0021c0028 a0028c0086	a0008c0082t0001 a0021c0028t0001 a0028c0086t0011 a0008c0082t0001 a0021c0028t0001 a0028c0086t0011	a0008c0082t0001g0321 a0021c0028t0001g0012 a0028c0086t0011g0062 a0008c0082t0001g0321 a0021c0028t0001g0012 a0028c0086t0011g0062	3	364	0.0082	25	c.285 others(42): Show c.2858+218_2858+242dupCTTTTCTTTTCTTTTCTTTTCTTTT	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	22/36			chr1	TogoVar
MYOZ3_chr5_150656251_150684368	150683495	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0065 a0002c0004t0002g0065	1	394	0.0025	25	c.66 others(36): Show c.6620_*6621insAAAAGAAAAGAAAAGAAAAGAAAAG	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding		4128		chr5	TogoVar
MYPN_chr10_68104488_68217017	68169181	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0018 a0007c0008t0018	a0007c0008t0018g0173 a0007c0008t0018g0173	1	306	0.0033	25	c.197 others(44): Show c.1973+2518_1973+2542dupAAAAAAAAAAAAAAAAAAAAAAAAA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYRFL_chr12_69820227_69964097	69945986	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0140 a0002c0002t0003g0140	1	322	0.0031	25	c.222 others(44): Show c.2225-6123_2225-6099dupAAAAAAAAAAAAAAAAAAAAAAAAA	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40192309	C C	CATATATA others(18): Show CATATATATATGACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19057.hp2 NA18979.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0016 a0001c0002t0002 a0001c0002t0016	a0001c0002t0002g0063 a0001c0002t0016g0054 a0001c0002t0002g0063 a0001c0002t0016g0054	2	170	0.0118	25	c.166 others(44): Show c.1665+1856_1665+1857insGACATATATATATATATATATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results (Total: 8644 hits)