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
MYO16_chr13_108624611_109213005	109008618	ACTATCTA others(25): Show ACTATCTATCTTGTGTATGCACTACTGTACTGT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03654.hp1 HG03098.hp2 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0002 a0001c0002t0004g0033 a0001c0002t0002g0002 a0001c0002t0004g0033	2	152	0.0132	-32	c.244 others(49): Show c.2443-272_2443-241delATCTTGTGTATGCACTACTGTACTGTCT ATCT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO18B_chr22_25737188_26036045	25948431	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0055 a0003c0014t0001g0055	1	228	0.0044	-32	c.574 others(49): Show c.5748+607_5748+638delCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTTC	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	36/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1D_chr17_32487522_32882124	32844370	AGTATATA others(25): Show AGTATATATGTGTATATATACTATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0203 a0001c0001t0006g0203	1	244	0.0041	-32	c.95+ others(49): Show c.95+32376_95+32407delATATTATATATAGTATATATACACATAT ATAC	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	1/21			chr17	TogoVar
MYO1F_chr19_8515778_8582442	8574591	CTCTCTCT others(25): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0269 a0001c0003t0001g0269	1	342	0.0029	-32	c.3+2 others(45): Show c.3+2684_3+2715delAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8574595	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	342	0.0029	-32	c.3+2 others(45): Show c.3+2680_3+2711delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27			chr19	TogoVar
MYO1G_chr7_44957662_44984015	44965511	TCCACCTT others(25): Show TCCACCTTCCCACCTATCAAGGGGGCTGGTGTA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0072 a0003c0004t0001g0072	1	378	0.0027	-32	c.238 others(48): Show c.2381+94_2381+125delTACACCAGCCCCCTTGATAGGTGGGAAGG TGG	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding	17/21			chr7	TogoVar
MYO1H_chr12_109342900_109453379	109452624	CTGTGGAC others(25): Show CTGTGGACTCAGAAGTAAATCATGGCAGGCAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0039 a0001c0005t0001g0039	1	312	0.0032	-32	c.54 others(43): Show c.5443_*5474delTGTGGACTCAGAAGTAAATCATGGCAGGCAGA	MYO1H	ENSG00000174527.11	transcript	ENST00000310903.10	protein_coding		4246		chr12	TogoVar
MYO3A_chr10_25929229_26217532	26019217	CTATTTAT others(25): Show CTATTTATTTATTTATTTATTTATTTATTTATT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	280	0.0036	-32	c.586 others(49): Show c.586-2264_586-2233delATTTATTTATTTATTTATTTATTTATTT ATTT	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	7/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYO5B_chr18_49817789_50200147	50077484	AACACACA others(25): Show AACACACACACACACACAAACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01243.hp1 others(5): Show HG00639.hp1 HG00735.hp2 HG01243.hp1 HG01256.hp2 HG02965.hp1 HG03225.hp2 NA19043.hp1 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0020 others(2): Show a0001c0001 a0001c0002 a0001c0020 a0001c0034 a0008c0025	a0001c0001t0006 a0001c0002t0011 a0001c0020t0018 others(2): Show a0001c0001t0006 a0001c0002t0011 a0001c0020t0018 a0001c0034t0001 a0008c0025t0006	a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 others(5): Show a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0002t0011g0224 a0001c0020t0018g0233 a0001c0020t0018g0234 a0001c0034t0001g0075 a0008c0025t0006g0215	8	238	0.0336	-32	c.28- others(49): Show c.28-22138_28-22107delGTGTGTGTGTGTGTTTGTGTGTGTGTGT GTGT	MYO5B	ENSG00000167306.21	transcript	ENST00000285039.12	protein_coding	1/39			chr18	TogoVar
MYO6_chr6_75744239_75924537	75787704	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 NA19083.hp2 HG00408.hp2 HG00597.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0045 a0001c0001t0047 a0001c0001t0009 a0001c0001t0045 a0001c0001t0047	a0001c0001t0009g0330 a0001c0001t0045g0335 a0001c0001t0047g0324 a0001c0001t0009g0330 a0001c0001t0045g0335 a0001c0001t0047g0324	3	358	0.0084	-32	c.-47 others(51): Show c.-47-29795_-47-29764delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO6_chr6_75744239_75924537	75787706	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18942.hp1 NA18945.hp2 others(2): Show NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18987.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0028 a0001c0001t0045 a0001c0001t0009 a0001c0001t0028 a0001c0001t0045	a0001c0001t0009g0319 a0001c0001t0009g0322 a0001c0001t0009g0323 others(2): Show a0001c0001t0009g0319 a0001c0001t0009g0322 a0001c0001t0009g0323 a0001c0001t0028g0332 a0001c0001t0045g0354	5	358	0.0140	-32	c.-47 others(51): Show c.-47-29793_-47-29762delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO6_chr6_75744239_75924537	75787708	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02083.hp2 NA18967.hp1 others(8): Show HG01975.hp2 HG02083.hp2 NA18967.hp1 NA18968.hp2 NA18977.hp2 NA18978.hp2 NA18988.hp1 NA18998.hp1 NA19000.hp2 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0028 others(4): Show a0001c0001t0009 a0001c0001t0018 a0001c0001t0028 a0001c0001t0043 a0001c0001t0044 a0001c0001t0117 a0001c0001t0121	a0001c0001t0009g0321 a0001c0001t0009g0327 a0001c0001t0009g0339 others(8): Show a0001c0001t0009g0321 a0001c0001t0009g0327 a0001c0001t0009g0339 a0001c0001t0018g0340 a0001c0001t0018g0349 a0001c0001t0028g0328 a0001c0001t0028g0346 a0001c0001t0043g0320 a0001c0001t0044g0329 a0001c0001t0117g0344 a0001c0001t0121g0351	11	358	0.0307	-32	c.-47 others(51): Show c.-47-29791_-47-29760delCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO6_chr6_75744239_75924537	75787710	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02004.hp2 HG02698.hp1 others(2): Show HG01928.hp1 HG02004.hp2 HG02698.hp1 NA18979.hp1 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0043 a0001c0001t0048 a0001c0001t0119 others(2): Show a0001c0001t0043 a0001c0001t0048 a0001c0001t0119 a0003c0009t0126 a0003c0009t0127	a0001c0001t0043g0337 a0001c0001t0048g0350 a0001c0001t0119g0343 others(2): Show a0001c0001t0043g0337 a0001c0001t0048g0350 a0001c0001t0119g0343 a0003c0009t0126g0352 a0003c0009t0127g0353	5	358	0.0140	-32	c.-47 others(51): Show c.-47-29789_-47-29758delCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO6_chr6_75744239_75924537	75787712	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02040.hp1 NA19077.hp1 HG00673.hp2 HG02040.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0123 a0001c0001t0124 a0001c0001t0044 a0001c0001t0123 a0001c0001t0124	a0001c0001t0044g0325 a0001c0001t0123g0342 a0001c0001t0124g0341 a0001c0001t0044g0325 a0001c0001t0123g0342 a0001c0001t0124g0341	3	358	0.0084	-32	c.-47 others(51): Show c.-47-29787_-47-29756delCTCTCTCTCTCTCTCTCTATATATAT ATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO6_chr6_75744239_75924537	75787714	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18971.hp1 NA18969.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0122 a0001c0001t0048 a0001c0001t0122	a0001c0001t0048g0347 a0001c0001t0122g0331 a0001c0001t0048g0347 a0001c0001t0122g0331	2	358	0.0056	-32	c.-47 others(51): Show c.-47-29785_-47-29754delCTCTCTCTCTCTCTCTATATATATAT ATATAT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO7B_chr2_127530683_127642726	127541090	ATCTGCTG others(25): Show ATCTGCTGGGCTGTCTCCACAGTGAAGGGAGCG	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18986.hp1 NA19007.hp2 NA18957.hp1 NA18986.hp1 NA19007.hp2	a0001 a0001	a0001c0005 a0001c0058 a0001c0005 a0001c0058	a0001c0005t0002 a0001c0058t0002 a0001c0005t0002 a0001c0058t0002	a0001c0005t0002g0060 a0001c0005t0002g0099 a0001c0058t0002g0100 a0001c0005t0002g0060 a0001c0005t0002g0099 a0001c0058t0002g0100	3	282	0.0106	-32	c.-24 others(49): Show c.-24+5291_-24+5322delGTCTGCTGGGCTGTCTCCACAGTGAAGG GAGC	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7B_chr2_127530683_127642726	127642460	GCCCCCCT others(25): Show GCCCCCCTCCTCCTCCAAACCAGAGGGGGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0226 a0003c0003t0001g0226	1	282	0.0036	-32	c.50 others(43): Show c.5044_*5075delCCCCCCTCCTCCTCCAAACCAGAGGGGGTGTC	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding		4735		chr2	TogoVar
MYOF_chr10_93301429_93487334	93482845	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG02055.hp1 others(11): Show HG00558.hp1 HG00558.hp2 HG02055.hp1 HG02165.hp1 HG02559.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03669.hp2 HG06807.hp2 NA18948.hp2 NA18962.hp1 NA18962.hp2 NA20752.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0017 a0023 a0024	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0058 a0003c0007 a0004c0006 a0017c0033 a0023c0056 a0024c0034	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 others(7): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0015t0002 a0001c0058t0002 a0003c0007t0002 a0004c0006t0002 a0017c0033t0002 a0023c0056t0002 a0024c0034t0002	a0001c0001t0002g0186 a0001c0001t0002g0219 a0001c0002t0002g0182 others(11): Show a0001c0001t0002g0186 a0001c0001t0002g0219 a0001c0002t0002g0182 a0001c0002t0002g0217 a0001c0003t0002g0173 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0015t0002g0169 a0001c0058t0002g0189 a0003c0007t0002g0194 a0004c0006t0002g0203 a0017c0033t0002g0181 a0023c0056t0002g0172 a0024c0034t0002g0185	14	240	0.0583	-32	c.-68 others(41): Show c.-683_-652delTATATATATATATATATATATATATATATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		512		chr10	TogoVar
MYOM1_chr18_3061807_3224968	3159874	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02523.hp1 others(4): Show HG02280.hp2 HG02486.hp2 HG02523.hp1 NA18991.hp1 NA19081.hp1 NA19091.hp1 NA20752.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0011 a0012	a0001c0005 a0001c0098 a0004c0119 others(3): Show a0001c0005 a0001c0098 a0004c0119 a0006c0014 a0011c0147 a0012c0009	a0001c0005t0002 a0001c0005t0006 a0001c0098t0002 others(4): Show a0001c0005t0002 a0001c0005t0006 a0001c0098t0002 a0004c0119t0001 a0006c0014t0004 a0011c0147t0007 a0012c0009t0004	a0001c0005t0002g0267 a0001c0005t0006g0238 a0001c0098t0002g0104 others(4): Show a0001c0005t0002g0267 a0001c0005t0006g0238 a0001c0098t0002g0104 a0004c0119t0001g0054 a0006c0014t0004g0316 a0011c0147t0007g0154 a0012c0009t0004g0273	7	330	0.0212	-32	c.150 others(51): Show c.1501+4372_1501+4403delGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	MYOM1	ENSG00000101605.14	transcript	ENST00000356443.9	protein_coding	10/37			chr18	TogoVar
MYOM2_chr8_2040046_2150456	2041509	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01071.hp1 others(43): Show HG00140.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02809.hp1 HG02970.hp2 HG02976.hp1 HG03453.hp2 HG03486.hp2 HG03654.hp1 HG04228.hp2 NA18522.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18968.hp2 NA18972.hp2 NA18974.hp2 NA18986.hp1 NA18997.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19080.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0011 a0013 a0014 a0017 a0023 a0026 a0052 a0053 a0057 a0064 a0072 a0077 a0082 a0091	a0001c0002 a0001c0003 a0001c0009 others(33): Show a0001c0002 a0001c0003 a0001c0009 a0001c0014 a0001c0020 a0001c0022 a0001c0039 a0001c0084 a0002c0017 a0002c0048 a0002c0088 a0002c0096 a0002c0107 a0003c0001 a0003c0152 a0004c0051 a0005c0109 a0007c0010 a0009c0012 a0011c0181 a0011c0182 a0013c0031 a0013c0074 a0013c0080 a0014c0044 a0017c0026 a0023c0021 a0026c0174 a0052c0186 a0053c0185 a0057c0167 a0064c0163 a0072c0143 a0077c0135 a0082c0111 a0091c0064	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(35): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0014t0001 a0001c0020t0001 a0001c0022t0001 a0001c0039t0001 a0001c0084t0001 a0002c0017t0001 a0002c0048t0003 a0002c0088t0002 a0002c0096t0001 a0002c0107t0001 a0003c0001t0001 a0003c0152t0001 a0004c0051t0001 a0005c0109t0002 a0007c0010t0001 a0009c0012t0001 a0011c0181t0001 a0011c0182t0002 a0013c0031t0001 a0013c0074t0001 a0013c0080t0001 a0014c0044t0001 a0017c0026t0001 a0023c0021t0001 a0026c0174t0001 a0052c0186t0001 a0053c0185t0001 a0057c0167t0001 a0064c0163t0001 a0072c0143t0001 a0077c0135t0001 a0082c0111t0002 a0091c0064t0001	a0001c0002t0001g0383 a0001c0002t0002g0371 a0001c0003t0001g0362 others(43): Show a0001c0002t0001g0383 a0001c0002t0002g0371 a0001c0003t0001g0362 a0001c0003t0001g0372 a0001c0003t0002g0361 a0001c0003t0002g0368 a0001c0009t0001g0365 a0001c0009t0001g0366 a0001c0014t0001g0026 a0001c0014t0001g0329 a0001c0020t0001g0052 a0001c0022t0001g0073 a0001c0022t0001g0083 a0001c0039t0001g0363 a0001c0084t0001g0350 a0002c0017t0001g0071 a0002c0048t0003g0128 a0002c0048t0003g0199 a0002c0088t0002g0023 a0002c0096t0001g0209 a0002c0107t0001g0072 a0003c0001t0001g0114 a0003c0001t0001g0200 a0003c0152t0001g0370 a0004c0051t0001g0360 a0005c0109t0002g0115 a0007c0010t0001g0367 a0009c0012t0001g0374 a0011c0181t0001g0388 a0011c0182t0002g0069 a0013c0031t0001g0376 a0013c0074t0001g0335 a0013c0080t0001g0387 a0014c0044t0001g0357 a0017c0026t0001g0375 a0023c0021t0001g0354 a0023c0021t0001g0355 a0026c0174t0001g0061 a0052c0186t0001g0057 a0053c0185t0001g0067 a0057c0167t0001g0399 a0064c0163t0001g0390 a0072c0143t0001g0369 a0077c0135t0001g0231 a0082c0111t0002g0353 a0091c0064t0001g0070	46	403	0.1141	-32	c.-36 others(43): Show c.-3671_-3640delAAATATATATATATATATATATATATATATAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding		3536		chr8	TogoVar
MYOM2_chr8_2040046_2150456	2041511	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG00741.hp2 others(56): Show HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02080.hp1 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02976.hp2 HG03209.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG06807.hp1 NA18940.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18962.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp2 NA18987.hp2 NA19054.hp1 NA19054.hp2 NA19066.hp1 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0015 a0019 a0021 a0024 a0029 a0031 a0032 a0035 a0039 a0041 a0042 a0045 a0046 a0047 a0049 a0050 a0055 a0066 a0067 a0074 a0079 a0092	a0001c0002 a0001c0003 a0001c0009 others(42): Show a0001c0002 a0001c0003 a0001c0009 a0001c0039 a0001c0103 a0001c0116 a0002c0006 a0002c0015 a0002c0034 a0002c0037 a0003c0004 a0005c0005 a0006c0013 a0006c0191 a0006c0198 a0006c0201 a0006c0204 a0007c0010 a0007c0100 a0010c0056 a0010c0206 a0010c0207 a0015c0057 a0019c0058 a0019c0211 a0021c0028 a0024c0055 a0029c0183 a0031c0050 a0032c0071 a0035c0170 a0039c0029 a0041c0210 a0042c0192 a0045c0208 a0046c0200 a0047c0202 a0049c0203 a0050c0213 a0055c0169 a0066c0079 a0067c0076 a0074c0126 a0079c0136 a0092c0062	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(44): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0009t0002 a0001c0039t0001 a0001c0103t0001 a0001c0116t0001 a0002c0006t0001 a0002c0015t0001 a0002c0034t0001 a0002c0037t0001 a0003c0004t0002 a0005c0005t0001 a0006c0013t0001 a0006c0013t0005 a0006c0191t0001 a0006c0198t0001 a0006c0201t0005 a0006c0204t0002 a0007c0010t0001 a0007c0100t0001 a0010c0056t0002 a0010c0206t0001 a0010c0207t0001 a0015c0057t0001 a0019c0058t0001 a0019c0211t0002 a0021c0028t0001 a0024c0055t0001 a0029c0183t0001 a0031c0050t0001 a0032c0071t0001 a0035c0170t0001 a0039c0029t0001 a0041c0210t0001 a0042c0192t0002 a0045c0208t0001 a0046c0200t0001 a0047c0202t0001 a0049c0203t0001 a0050c0213t0005 a0055c0169t0001 a0066c0079t0001 a0067c0076t0001 a0074c0126t0001 a0079c0136t0001 a0092c0062t0002	a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0002g0001 others(55): Show a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0002g0001 a0001c0002t0002g0021 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0009t0002g0010 a0001c0009t0002g0015 a0001c0039t0001g0012 a0001c0103t0001g0346 a0001c0116t0001g0016 a0002c0006t0001g0120 a0002c0015t0001g0142 a0002c0034t0001g0349 a0002c0037t0001g0127 a0003c0004t0002g0147 a0005c0005t0001g0143 a0006c0013t0001g0152 a0006c0013t0001g0155 a0006c0013t0001g0158 a0006c0013t0005g0146 a0006c0013t0005g0167 a0006c0191t0001g0169 a0006c0198t0001g0163 a0006c0201t0005g0168 a0006c0204t0002g0160 a0007c0010t0001g0102 a0007c0100t0001g0337 a0010c0056t0002g0159 a0010c0206t0001g0154 a0010c0207t0001g0150 a0015c0057t0001g0156 a0015c0057t0001g0165 a0019c0058t0001g0157 a0019c0211t0002g0087 a0021c0028t0001g0164 a0021c0028t0001g0172 a0024c0055t0001g0144 a0024c0055t0001g0170 a0029c0183t0001g0119 a0031c0050t0001g0347 a0032c0071t0001g0121 a0035c0170t0001g0275 a0039c0029t0001g0173 a0039c0029t0001g0174 a0041c0210t0001g0153 a0042c0192t0002g0148 a0045c0208t0001g0162 a0046c0200t0001g0151 a0047c0202t0001g0166 a0049c0203t0001g0149 a0050c0213t0005g0145 a0055c0169t0001g0019 a0066c0079t0001g0017 a0067c0076t0001g0011 a0074c0126t0001g0018 a0079c0136t0001g0171 a0092c0062t0002g0175	59	403	0.1464	-32	c.-36 others(43): Show c.-3669_-3638delATATATATATATATATATATATATATATATAT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding		3534		chr8	TogoVar
MYOM2_chr8_2040046_2150456	2100097	CTTCCTTC others(25): Show CTTCCTTCCTTCTTTCTTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0096 a0002c0096	a0002c0096t0001 a0002c0096t0001	a0002c0096t0001g0209 a0002c0096t0001g0209	1	403	0.0025	-32	c.244 others(49): Show c.2441-767_2441-736delTTTCTTTCCTTCCTTCCTTCTTTCCTTC CTTC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	19/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM3_chr1_24051041_24117135	24067387	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00741.hp1 others(17): Show HG00099.hp2 HG00639.hp1 HG00741.hp1 HG01106.hp2 HG01123.hp2 HG01934.hp2 HG01981.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA19240.hp2 NA20805.hp1	a0001 a0004 a0006 others(3): Show a0001 a0004 a0006 a0009 a0049 a0060	a0001c0002 a0004c0004 a0006c0006 others(3): Show a0001c0002 a0004c0004 a0006c0006 a0009c0012 a0049c0059 a0060c0041	a0001c0002t0001 a0004c0004t0001 a0006c0006t0001 others(3): Show a0001c0002t0001 a0004c0004t0001 a0006c0006t0001 a0009c0012t0001 a0049c0059t0001 a0060c0041t0001	a0001c0002t0001g0340 a0004c0004t0001g0046 a0004c0004t0001g0251 others(17): Show a0001c0002t0001g0340 a0004c0004t0001g0046 a0004c0004t0001g0251 a0006c0006t0001g0019 a0006c0006t0001g0040 a0006c0006t0001g0041 a0006c0006t0001g0100 a0006c0006t0001g0104 a0006c0006t0001g0140 a0006c0006t0001g0194 a0006c0006t0001g0195 a0006c0006t0001g0196 a0006c0006t0001g0225 a0006c0006t0001g0226 a0006c0006t0001g0227 a0006c0006t0001g0294 a0006c0006t0001g0350 a0009c0012t0001g0047 a0049c0059t0001g0095 a0060c0041t0001g0106	20	364	0.0550	-32	c.335 others(49): Show c.3356-331_3356-300delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding	27/36			chr1	TogoVar
MYOM3_chr1_24051041_24117135	24113260	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG00735.hp2 HG01255.hp1	a0053 a0055 a0053 a0055	a0053c0046 a0055c0047 a0053c0046 a0055c0047	a0053c0046t0001 a0055c0047t0001 a0053c0046t0001 a0055c0047t0001	a0053c0046t0001g0031 a0055c0047t0001g0030 a0053c0046t0001g0031 a0055c0047t0001g0030	2	364	0.0055	-32	c.-12 others(43): Show c.-1280_-1249delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	MYOM3	ENSG00000142661.19	transcript	ENST00000374434.4	protein_coding		1126		chr1	TogoVar
MYRFL_chr12_69820227_69964097	69824511	ATATATGT others(25): Show ATATATGTATATATATATGTATATATATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp2 others(77): Show HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03579.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp1 NA18906.hp1 NA18939.hp2 NA18945.hp2 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp1 NA18988.hp2 NA18999.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0003 a0001c0026 others(14): Show a0001c0001 a0001c0003 a0001c0026 a0002c0002 a0002c0005 a0003c0004 a0003c0006 a0003c0019 a0004c0007 a0004c0016 a0004c0021 a0005c0008 a0007c0010 a0008c0013 a0009c0012 a0011c0028 a0012c0023	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0002 a0003c0004t0001 a0003c0004t0003 a0003c0006t0001 a0003c0006t0003 a0003c0019t0001 a0004c0007t0001 a0004c0007t0002 a0004c0016t0002 a0004c0021t0002 a0005c0008t0004 a0007c0010t0001 a0008c0013t0004 a0009c0012t0001 a0011c0028t0002 a0012c0023t0001	a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0098 others(77): Show a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0003g0096 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0003t0001g0125 a0001c0003t0001g0128 a0001c0003t0001g0133 a0001c0003t0001g0138 a0001c0003t0001g0152 a0001c0026t0001g0117 a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0002g0122 a0002c0002t0003g0068 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0005t0002g0029 a0003c0004t0001g0067 a0003c0004t0001g0069 a0003c0004t0001g0074 a0003c0004t0001g0075 a0003c0004t0001g0076 a0003c0004t0001g0077 a0003c0004t0001g0079 a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0085 a0003c0004t0001g0097 a0003c0004t0001g0101 a0003c0004t0001g0103 a0003c0004t0001g0106 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0110 a0003c0004t0001g0111 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0120 a0003c0004t0001g0121 a0003c0004t0001g0130 a0003c0004t0001g0145 a0003c0004t0003g0094 a0003c0004t0003g0105 a0003c0006t0001g0073 a0003c0006t0001g0095 a0003c0006t0001g0102 a0003c0006t0001g0107 a0003c0006t0001g0114 a0003c0006t0001g0124 a0003c0006t0001g0129 a0003c0006t0001g0142 a0003c0006t0001g0146 a0003c0006t0003g0135 a0003c0019t0001g0149 a0004c0007t0001g0113 a0004c0007t0002g0071 a0004c0007t0002g0143 a0004c0007t0002g0150 a0004c0016t0002g0072 a0004c0016t0002g0078 a0004c0021t0002g0084 a0005c0008t0004g0104 a0007c0010t0001g0134 a0008c0013t0004g0099 a0009c0012t0001g0147 a0009c0012t0001g0148 a0011c0028t0002g0070 a0012c0023t0001g0080	80	322	0.2485	-32	c.-10 others(42): Show c.-1006_-975delTATATGTATATATATATGTATATATATGTATG	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding		715		chr12	TogoVar
MYRFL_chr12_69820227_69964097	69832944	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	322	0.0031	-32	c.46+ others(47): Show c.46+7393_46+7424delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRFL_chr12_69820227_69964097	69891605	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCCTCCTTCCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	322	0.0031	-32	c.903 others(47): Show c.903+441_903+472delCTTTCTTTCTTTCTTTCCTCCTTCCTTTCT TT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYT1L_chr2_1784113_2336275	1842866	AGCTTCCG others(25): Show AGCTTCCGCTTCCAGGCGCTTCCGCTTCCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03239.hp1 HG02257.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0025 a0001c0002 a0001c0025	a0001c0002t0001 a0001c0025t0005 a0001c0002t0001 a0001c0025t0005	a0001c0002t0001g0072 a0001c0025t0005g0019 a0001c0002t0001g0072 a0001c0025t0005g0019	2	104	0.0192	-32	c.277 others(51): Show c.2775-2055_2775-2024delGCCTGGAAGCGGAAGCGCCTGGAAGC GGAAGC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	19/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	1850182	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(39): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 HG00673.hp1 HG00673.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03834.hp1 HG03942.hp1 HG03942.hp2 NA18945.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18990.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19065.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0019 a0001c0022 a0001c0023 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0015 a0001c0003t0001 a0001c0003t0003 a0001c0003t0025 a0001c0004t0001 a0001c0004t0007 a0001c0004t0009 a0001c0004t0012 a0001c0004t0013 a0001c0006t0001 a0001c0006t0003 a0001c0006t0007 a0001c0008t0001 a0001c0008t0002 a0001c0009t0006 a0001c0009t0008 a0001c0009t0022 a0001c0019t0002 a0001c0022t0016 a0001c0023t0003 a0003c0010t0003 a0003c0010t0009	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 others(39): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0090 a0001c0001t0007g0029 a0001c0001t0008g0009 a0001c0001t0010g0034 a0001c0002t0015g0008 a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0041 a0001c0003t0001g0094 a0001c0003t0001g0100 a0001c0003t0003g0059 a0001c0003t0003g0077 a0001c0003t0025g0055 a0001c0004t0001g0040 a0001c0004t0001g0084 a0001c0004t0007g0035 a0001c0004t0009g0001 a0001c0004t0012g0066 a0001c0004t0013g0044 a0001c0006t0001g0024 a0001c0006t0001g0083 a0001c0006t0003g0027 a0001c0006t0003g0028 a0001c0006t0007g0098 a0001c0008t0001g0036 a0001c0008t0001g0091 a0001c0008t0002g0093 a0001c0009t0006g0075 a0001c0009t0008g0007 a0001c0009t0022g0062 a0001c0019t0002g0061 a0001c0022t0016g0012 a0001c0023t0003g0057 a0003c0010t0003g0039 a0003c0010t0009g0013	42	104	0.4039	-32	c.277 others(51): Show c.2774+1427_2774+1458delAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	19/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2004210	TGTTCTTT others(25): Show TGTTCTTTCCTGCAGGCGTTCTTTCCTGCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG00280.hp1 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0004 a0001c0001t0004 a0001c0007t0004	a0001c0001t0004g0010 a0001c0007t0004g0006 a0001c0001t0004g0010 a0001c0007t0004g0006	2	104	0.0192	-32	c.-15 others(51): Show c.-157-6895_-157-6864delGCCTGCAGGAAAGAACGCCTGCAGGA AAGAAC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2236784	CTTCTTCT others(25): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0103 a0001c0005t0026g0103	1	104	0.0096	-32	c.-42 others(53): Show c.-421+47588_-421+47619delAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYZAP_chr15_57586904_57690364	57688556	CTATATAT others(25): Show CTATATATACTCTATATGTGTACAATGTGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02027.hp2 HG02056.hp2 others(3): Show HG01109.hp2 HG02027.hp2 HG02056.hp2 HG02809.hp2 NA18747.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0006 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0006 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0003t0006g0116 others(3): Show a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0003t0006g0116 a0001c0003t0006g0117 a0002c0002t0002g0044 a0002c0002t0005g0062	6	352	0.0171	-32	c.40 others(43): Show c.4059_*4090delTATATATACTCTATATGTGTACAATGTGCACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3193		chr15	TogoVar
N4BP2L2_chr13_32505292_32543795	32529922	CACCATGT others(25): Show CACCATGTTGGCCAGGCTAGTCTTGAACTCCTG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0212 a0001c0001t0021g0212	1	394	0.0025	-32	c.126 others(51): Show c.1260-2422_1260-2391delCAGGAGTTCAAGACTAGCCTGGCCAA CATGGT	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding	2/5			chr13	TogoVar
NAA25_chr12_112021689_112113783	112037275	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01175.hp2 HG00099.hp2 HG01099.hp2 HG01175.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0001g0226	3	342	0.0088	-32	c.264 others(51): Show c.2649+1922_2649+1953delATATATATATATATATATATATATAT ATATAT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	22/23			chr12	TogoVar
NAA35_chr9_85936146_86030462	85966999	TGGGAGGC others(25): Show TGGGAGGCTGAGGTGGGAGAATCGCTTGAACCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03017.hp1 HG00673.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0010 a0001c0003t0009 a0001c0003t0010	a0001c0003t0009g0015 a0001c0003t0010g0014 a0001c0003t0009g0015 a0001c0003t0010g0014	2	288	0.0069	-32	c.516 others(49): Show c.516+4850_516+4881delCCGGGAGGCTGAGGTGGGAGAATCGCTT GAAC	NAA35	ENSG00000135040.16	transcript	ENST00000361671.10	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr9	TogoVar
NAALADL2_chr3_174854334_175815548	174882779	ACATATGT others(25): Show ACATATGTGTATATATACACGTGTGTATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp1 others(13): Show HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp1 NA18522.hp2 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0010 a0016	a0001c0001 a0002c0004 a0002c0005 others(6): Show a0001c0001 a0002c0004 a0002c0005 a0004c0002 a0005c0006 a0005c0011 a0007c0012 a0010c0020 a0016c0015	a0001c0001t0002 a0001c0001t0012 a0001c0001t0022 others(13): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0022 a0001c0001t0030 a0001c0001t0035 a0002c0004t0003 a0002c0004t0033 a0002c0005t0008 a0004c0002t0006 a0004c0002t0008 a0005c0006t0015 a0005c0011t0004 a0007c0012t0003 a0007c0012t0029 a0010c0020t0028 a0016c0015t0002	a0001c0001t0002g0032 a0001c0001t0012g0031 a0001c0001t0022g0002 others(13): Show a0001c0001t0002g0032 a0001c0001t0012g0031 a0001c0001t0022g0002 a0001c0001t0030g0030 a0001c0001t0035g0027 a0002c0004t0003g0028 a0002c0004t0033g0022 a0002c0005t0008g0007 a0004c0002t0006g0039 a0004c0002t0008g0006 a0005c0006t0015g0008 a0005c0011t0004g0029 a0007c0012t0003g0033 a0007c0012t0029g0024 a0010c0020t0028g0001 a0016c0015t0002g0005	16	64	0.2500	-32	c.43+ others(49): Show c.43+23380_43+23411delCGTGTGTATATGTGCATATGTGTATATA TACA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	174885876	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp1 HG02451.hp2 HG03130.hp1	a0007 a0009 a0007 a0009	a0007c0014 a0009c0023 a0007c0014 a0009c0023	a0007c0014t0004 a0009c0023t0001 a0007c0014t0004 a0009c0023t0001	a0007c0014t0004g0040 a0009c0023t0001g0037 a0007c0014t0004g0040 a0009c0023t0001g0037	2	64	0.0313	-32	c.43+ others(49): Show c.43+26451_43+26482delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175590211	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0034 a0014c0022t0001g0034	1	64	0.0156	-32	c.180 others(53): Show c.1800+14050_1800+14081delTATATATATATATATATATATATA TATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175623289	TGCCTTAC others(25): Show TGCCTTACCTAAAGGTTCTTTTATAAATGTAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(33): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0011 a0012 a0015 a0016	a0001c0001 a0002c0004 a0002c0005 others(10): Show a0001c0001 a0002c0004 a0002c0005 a0003c0003 a0003c0007 a0005c0006 a0005c0011 a0006c0009 a0006c0010 a0011c0021 a0012c0017 a0015c0024 a0016c0015	a0001c0001t0003 a0002c0004t0001 a0002c0004t0003 others(32): Show a0001c0001t0003 a0002c0004t0001 a0002c0004t0003 a0002c0004t0014 a0002c0004t0033 a0002c0004t0036 a0002c0005t0005 a0002c0005t0008 a0002c0005t0011 a0002c0005t0023 a0002c0005t0032 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0016 a0003c0007t0001 a0003c0007t0006 a0003c0007t0024 a0003c0007t0038 a0005c0006t0001 a0005c0006t0015 a0005c0006t0018 a0005c0006t0020 a0005c0011t0001 a0005c0011t0004 a0006c0009t0009 a0006c0009t0010 a0006c0009t0025 a0006c0010t0009 a0006c0010t0019 a0011c0021t0003 a0012c0017t0007 a0015c0024t0003 a0016c0015t0002	a0001c0001t0003g0015 a0002c0004t0001g0044 a0002c0004t0003g0028 others(33): Show a0001c0001t0003g0015 a0002c0004t0001g0044 a0002c0004t0003g0028 a0002c0004t0014g0058 a0002c0004t0033g0022 a0002c0004t0036g0047 a0002c0005t0005g0009 a0002c0005t0008g0007 a0002c0005t0011g0019 a0002c0005t0023g0045 a0002c0005t0032g0050 a0003c0003t0001g0056 a0003c0003t0002g0017 a0003c0003t0004g0020 a0003c0003t0004g0046 a0003c0003t0005g0014 a0003c0003t0016g0060 a0003c0007t0001g0064 a0003c0007t0006g0041 a0003c0007t0024g0049 a0003c0007t0038g0063 a0005c0006t0001g0057 a0005c0006t0015g0008 a0005c0006t0018g0013 a0005c0006t0020g0052 a0005c0011t0001g0053 a0005c0011t0004g0029 a0006c0009t0009g0061 a0006c0009t0010g0010 a0006c0009t0025g0035 a0006c0010t0009g0054 a0006c0010t0019g0016 a0011c0021t0003g0042 a0012c0017t0007g0025 a0015c0024t0003g0023 a0016c0015t0002g0005	36	64	0.5625	-32	c.180 others(51): Show c.1801-4001_1801-3970delGCCTTACCTAAAGGTTCTTTTATAAA TGTAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175667235	GAAAGAAA others(25): Show GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0002 a0004c0002t0002	a0004c0002t0002g0048 a0004c0002t0002g0048	1	64	0.0156	-32	c.189 others(53): Show c.1896+39851_1896+39882delAAGAAAAAGAAAGAAAGAAAGAAA GAAAGGAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175730395	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0045 a0002c0005t0023g0045	1	64	0.0156	-32	c.189 others(51): Show c.1897-6893_1897-6862delTATATATATATATATATATATATATA TATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB2_chr12_57084114_57100476	57084485	TTTGAATC others(25): Show TTTGAATCTGTTCTTTCCCCCCATGCCAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	396	0.0025	-32	c.-47 others(43): Show c.-4786_-4755delTTGAATCTGTTCTTTCCCCCCATGCCAGTGCC	NAB2	ENSG00000166886.13	transcript	ENST00000300131.8	protein_coding		4628		chr12	TogoVar
NALCN_chr13_101048776_101421508	101397079	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0135 a0001c0002t0019g0135	1	176	0.0057	-32	c.109 others(49): Show c.109-1746_109-1715delGTATATATATATATATATATATATATAT ATAT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	2/43			chr13	TogoVar
NANOGNB_chr12_7760216_7779121	7778418	GGACATCA others(25): Show GGACATCATGGTAAAACCCTGTCTCTACTAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	460	0.0022	-32	c.45 others(43): Show c.4568_*4599delGACATCATGGTAAAACCCTGTCTCTACTAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding		4298		chr12	TogoVar
NANOS1_chr10_119024714_119038730	119028622	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG01074.hp2 others(17): Show HG00140.hp1 HG01069.hp2 HG01074.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02622.hp1 HG02698.hp2 HG02886.hp2 HG02965.hp2 HG03139.hp2 HG03516.hp2 HG03669.hp2 HG03834.hp2 HG04199.hp1 NA19240.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0004	a0000c0002 a0001c0001 a0002c0003 others(1): Show a0000c0002 a0001c0001 a0002c0003 a0004c0005	a0000c0002t0001 a0001c0001t0001 a0001c0001t0007 others(3): Show a0000c0002t0001 a0001c0001t0001 a0001c0001t0007 a0002c0003t0006 a0002c0003t0025 a0004c0005t0034	a0000c0002t0001g0000 a0001c0001t0001g0000 a0001c0001t0007g0000 others(3): Show a0000c0002t0001g0000 a0001c0001t0001g0000 a0001c0001t0007g0000 a0002c0003t0006g0000 a0002c0003t0025g0000 a0004c0005t0034g0000	20	404	0.0495	-32	c.-11 others(43): Show c.-1179_-1148delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	NANOS1	ENSG00000188613.7	transcript	ENST00000425699.3	protein_coding		1091		chr10	TogoVar
NARS2_chr11_78430968_78579864	78505293	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02895.hp2 others(1): Show HG02622.hp1 HG02647.hp2 HG02895.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0290 a0002c0002t0008g0291 a0002c0002t0008g0292 others(1): Show a0002c0002t0008g0290 a0002c0002t0008g0291 a0002c0002t0008g0292 a0002c0002t0008g0293	4	294	0.0136	-32	c.690 others(51): Show c.690-12130_690-12099delATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	6/13			chr11	TogoVar
NASP_chr1_45579041_45623893	45586266	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18986.hp1 NA19083.hp1 NA18979.hp1 NA18986.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014	3	300	0.0100	-32	c.59+ others(47): Show c.59+2062_59+2093delTGTGTGTGTGTGTGTGTGGTGTGTGTGTGT GT	NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14			chr1	TogoVar
NAV1_chr1_201534127_201831969	201756794	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01243.hp2 HG01975.hp2 others(12): Show HG00438.hp2 HG01243.hp2 HG01975.hp2 HG02129.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp2 HG02896.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp1 HG03834.hp2 NA19009.hp1 NA19043.hp1 NA19091.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0013 a0001c0021 others(4): Show a0001c0001 a0001c0013 a0001c0021 a0003c0004 a0003c0020 a0004c0003 a0006c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0052 a0001c0001t0094 a0001c0013t0097 a0001c0021t0037 a0003c0004t0040 a0003c0020t0090 a0004c0003t0020 a0006c0008t0002	a0001c0001t0002g0120 a0001c0001t0004g0159 a0001c0001t0007g0032 others(12): Show a0001c0001t0002g0120 a0001c0001t0004g0159 a0001c0001t0007g0032 a0001c0001t0016g0153 a0001c0001t0017g0115 a0001c0001t0028g0177 a0001c0001t0029g0101 a0001c0001t0052g0112 a0001c0001t0094g0039 a0001c0013t0097g0188 a0001c0021t0037g0007 a0003c0004t0040g0142 a0003c0020t0090g0161 a0004c0003t0020g0016 a0006c0008t0002g0117	15	210	0.0714	-32	c.208 others(53): Show c.2088-23612_2088-23581delCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NBDY_chrX_56724243_56824179	56725501	GTAACAAT others(25): Show GTAACAATATTGTTATATTGTTATATATACATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA19043.hp1 NA18973.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0159 a0001c0001t0002g0087 a0001c0001t0002g0159	2	160	0.0125	-32	c.-38 others(43): Show c.-3852_-3821delTAACAATATTGTTATATTGTTATATATACATA	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding		3741		chrX	TogoVar
NBDY_chrX_56724243_56824179	56770824	CCTTTCTG others(25): Show CCTTTCTGCCCTGTCTCCATATTGCCGTGGGTG	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	160	0.0063	-32	c.16 others(53): Show c.166+38626_*166+38657delCTTTCTGCCCTGTCTCCATATTGC CGTGGGTG	NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2			chrX	TogoVar

Search by Variant

Search

Search Results (Total: 5012 hits)