Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MN1_chr22_27743277_27806756	27805671	C C	CACCTCCA others(95): Show CACCTCCATAGTGTGTGGCTATGTCAGCACACACACACACACACACATAT ACACCTCCATAGCGTGTGGCTATGTCAGCACACACACACACACACACACA CAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0042 a0002c0003t0042	a0002c0003t0042g0030 a0002c0003t0042g0030	1	394	0.0025	102	c.-51 others(113): Show c.-5129_-5128insATGTGTGTGTGTGTGTGTGTGTGTGCTGACATAG CCACACGCTATGGAGGTGTATATGTGTGTGTGTGTGTGTGTGCTGACATA GCCACACACTATGGAGGT	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3916		chr22	TogoVar
MN1_chr22_27743277_27806756	27805686	T T	TGTGTGGC others(95): Show TGTGTGGCTATGTCAGCACACACACACACACATATACACCTCCATAGCGT GTGGCTATGTCAGCACACACACACACACACACACACATATACACCTCCAT AGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG03225.hp2 NA19043.hp2 others(1): Show HG01192.hp2 HG03225.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0057 a0001c0001t0001 a0001c0001t0002 a0001c0001t0057	a0001c0001t0001g0093 a0001c0001t0002g0070 a0001c0001t0002g0126 others(1): Show a0001c0001t0001g0093 a0001c0001t0002g0070 a0001c0001t0002g0126 a0001c0001t0057g0237	4	394	0.0102	102	c.-51 others(113): Show c.-5144_-5143insGCTATGGAGGTGTATATGTGTGTGTGTGTGTGTG TGTGTGCTGACATAGCCACACGCTATGGAGGTGTATATGTGTGTGTGTGT GTGCTGACATAGCCACAC	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3931		chr22	TogoVar
MN1_chr22_27743277_27806756	27805701	G G	GCACACAC others(95): Show GCACACACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTC AGCACACACACACACACATATACACCTCCATAGCGTGTGGCTATGTCAGC ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0073 a0002c0006t0073	a0002c0006t0073g0381 a0002c0006t0073g0381	1	394	0.0025	102	c.-51 others(113): Show c.-5159_-5158insTGTGCTGACATAGCCACACGCTATGGAGGTGTAT ATGTGTGTGTGTGTGTGCTGACATAGCCACACGCTATGGAGGTGTATATG TGTGTGTGTGTGTGTGTG	MN1	ENSG00000169184.7	transcript	ENST00000302326.5	protein_coding		3946		chr22	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(95): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATATGTATATACATATATATATATATATATGTATATATA TAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0082 a0001c0001t0089g0082	1	320	0.0031	102	c.621 others(119): Show c.621+1912_621+1913insATATATATATACATATATATATATATAT ATGTATATACATATATATATATATATATATATATATATATATATATATAC ATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(95): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATATGTATATATATATATATATATATATATGTATATATA TAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0160 a0001c0001t0160	a0001c0001t0160g0173 a0001c0001t0160g0173	1	320	0.0031	102	c.621 others(119): Show c.621+1912_621+1913insATATATATATACATATATATATATATAT ATATATATACATATATATATATATATATATATATATATATATATATATAC ATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(95): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATATGTATATATATATATATATATATATATATGTATATATA TAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	320	0.0031	102	c.621 others(119): Show c.621+1912_621+1913insATATATATATACATATATATATATATAT ATATATATATACATATATATATATATATATATATATATATATATATATAC ATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(95): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATATGTATATATATATATATATATATATATATGTATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0185 a0001c0001t0185	a0001c0001t0185g0211 a0001c0001t0185g0211	1	320	0.0031	102	c.621 others(119): Show c.621+1912_621+1913insATATATATATATACATATATATATATAT ATATATATATATACATATATATATATATATATATATATATATATATATAC ATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(95): Show AATATATATATATATATATATATATGTATATATATATATATATATATATA TATATATATGTATATATATATATATATATATGTATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0088 a0001c0001t0145g0088	1	320	0.0031	102	c.621 others(119): Show c.621+1912_621+1913insATATATATATATATATATATACATATAT ATATATATATATATACATATATATATATATATATATATATATATATATAC ATATATATATATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27357144	A A	ATGTATAT others(95): Show ATGTATATATATATATATATATATATATATATATATATATATATGTATAT ATATATATATATATATATGTATATATATATATATATATATATATATATAT ATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	320	0.0031	102	c.621 others(119): Show c.621+1889_621+1890insCATATATATATATATATATATATATATA TATATACATATATATATATATATATATATACATATATATATATATATATA TATATATATATATATATATATACA	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOBP_chr3_39462680_39508027	39469180	G G	GTGTGTGT others(95): Show GTGTGTGTGTATATATACATATATACGTGTGTGTGTATATATACATATAT ACGTGTGTGTGTATATATACATATATACGTGTGTGTGTATATACATATAT ACA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	400	0.0025	102	c.-89 others(119): Show c.-89+1449_-89+1450insATATATACATATATACGTGTGTGTGTAT ATATACATATATACGTGTGTGTGTATATATACATATATACGTGTGTGTGT ATATACATATATACATGTGTGTGT	MOBP	ENSG00000168314.19	transcript	ENST00000684792.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
MPPED1_chr22_43407014_43512848	43432682	A A	AGAGATAA others(95): Show AGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGATAAAGG GAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18944.hp1 NA18945.hp1 HG02083.hp1 NA18944.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0127 a0001c0001t0001g0215 a0001c0001t0002g0054 a0001c0001t0001g0127 a0001c0001t0001g0215 a0001c0001t0002g0054	3	250	0.0120	102	c.225 others(119): Show c.225-2348_225-2347insTAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGG GAGGAGAGAGATAAAGGGAGGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432876	A A	AGAAAGGG others(95): Show AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0228 a0001c0001t0004g0228	1	250	0.0040	102	c.225 others(119): Show c.225-2157_225-2156insAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43495548	G G	GAGGTAGT others(95): Show GAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGAGGAGGTACTAGTAAT GGAGGTGGTGGTGGAAGTGCTGGTGATGGTGGAGGTGGTGGTGGTGGAAG TGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp1 HG02922.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0006 a0001c0001t0006 a0001c0007t0006	a0001c0001t0006g0026 a0001c0007t0006g0190 a0001c0001t0006g0026 a0001c0007t0006g0190	2	250	0.0080	102	c.633 others(119): Show c.633-2687_633-2686insAGGTAGTGGTGGTGGAGGTGGTGGTGGT GGAGGAGGAGGTACTAGTAATGGAGGTGGTGGTGGAAGTGCTGGTGATGG TGGAGGTGGTGGTGGTGGAAGTGC	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496906	G G	GGTGATGG others(95): Show GGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGG TGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTG GAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0185	1	250	0.0040	102	c.633 others(119): Show c.633-1326_633-1325insATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTG GTGGAGGTAGTGGTGGTGGAAGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499998	G G	GTGGTGAT others(95): Show GTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGG TGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	250	0.0040	102	c.748 others(119): Show c.748+1651_748+1652insTGATGGGGGTGGTGGTGGTGATGGTGAT GGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGG GGGTGGTGGTGGTGATGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRGPRG_chr11_3212944_3223813	3216168	T T	TCTGAGCC others(95): Show TCTGAGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCC TCCTGAGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG03239.hp2 HG03831.hp1 others(1): Show HG02293.hp1 HG03239.hp2 HG03831.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	4	426	0.0094	102	c.17 others(113): Show c.1775_*1776insGAGGATGGGAGTGTGGGCACTGTTGGTCTGAAGG CCATCTGGGGGGCTCAGGAGGATGGGAGTGTGGGCACTGTTGGTCTGAAG GCCATCTGGGGGGCTCAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1775		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216168	T T	TCTGAGCC others(95): Show TCTGAGCCCCCCAGATGGCCTTTAGACCAACAGTGCCCACACTCCCATCC TCCTGAGCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(86): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01884.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02109.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19064.hp2 NA19070.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0000 a0005c0005t0000 a0001c0001t0000 a0005c0005t0000	a0001c0001t0000g0000 a0005c0005t0000g0000 a0001c0001t0000g0000 a0005c0005t0000g0000	89	426	0.2089	102	c.17 others(113): Show c.1775_*1776insGAGGATGGGAGTGTGGGCACTGTTGGTCTGAAGG CCATCTGGGGGGCTCAGGAGGATGGGAGTGTGGGCACTGTTGGTCTAAAG GCCATCTGGGGGGCTCAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1775		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216225	C C	CCCCCCAG others(95): Show CCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTCCTGA GCCCCCCAGATGGCCTTCAGACCAACAGTGCCCACACTCCCATCCTCCTG AGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp2 HG03688.hp1 HG00099.hp2 HG00597.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0000 a0001c0007t0000 a0001c0001t0000 a0001c0007t0000	a0001c0001t0000g0000 a0001c0007t0000g0000 a0001c0001t0000g0000 a0001c0007t0000g0000	3	426	0.0070	102	c.17 others(113): Show c.1718_*1719insACTCAGGAGGATGGGAGTGTGGGCACTGTTGGTC TGAAGGCCATCTGGGGGGCTCAGGAGGATGGGAGTGTGGGCACTGTTGGT CTGAAGGCCATCTGGGGG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1718		chr11	TogoVar
MRLN_chr10_59731692_59758455	59745529	T T	TTCTTTTC others(95): Show TTCTTTTCCTCATTTCTAGAGGCCATTGGGAGTCACTTTATTATTTTATA GACTGTTGTACTGAAAGTAGAATGGATACTCTCATCTAGTTTATAAGTTT TTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	418	0.0024	102	c.-12 others(121): Show c.-124-7069_-124-6968dupTAAAAACTTATAAACTAGATGAGAGT ATCCATTCTACTTTCAGTACAACAGTCTATAAAATAATAAAGTGACTCCC AATGGCCTCTAGAAATGAGGAAAAGA	MRLN	ENSG00000227877.7	transcript	ENST00000414264.6	protein_coding	1/2			chr10	TogoVar
MROH1_chr8_144143016_144266926	144202945	A A	AGAGGGGC others(95): Show AGAGGGGCGGGGAGGGGACCACCCGCTGTCTGTGGAGGGGCGGGGGGGGG GGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTCTCT GTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	140	0.0071	102	c.114 others(121): Show c.1141+2421_1141+2422insCCACCCGCTGTCTGTGGAGGGGCGGG GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCG CTCTCTGTGGAGGGGCGGGGAGGGGA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787925	T T	TATATATT others(95): Show TATATATTATATATACATATATATTATATATACACATATATATTATATAT ACATATATATTATATATACATATATATTATATATACATATATATTATATA TAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0111 a0111	a0111c0059 a0111c0059	a0111c0059t0001 a0111c0059t0001	a0111c0059t0001g0016 a0111c0059t0001g0016	1	378	0.0027	102	c.277 others(119): Show c.277-1539_277-1538insCATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATACATATATTAT ATATACATATATATTATATATACA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRPL45_chr17_38292168_38328211	38313311	A A	AAAATATA others(95): Show AAAATATATATATATATATATATATATACGTATATATATATATACATATA TATATATACATATATATATATACGTATATATATATATATACGTATATATA TAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0239 a0002c0003t0001g0239	1	287	0.0035	102	c.462 others(119): Show c.462-5375_462-5374insAATATATATATATATATATATATATACG TATATATATATATACATATATATATATACATATATATATATACGTATATA TATATATATACGTATATATATATA	MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
MRTFA_chr22_40405289_40641719	40501469	A A	ACCTCCCG others(95): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03704.hp2 HG02976.hp1 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0001 a0001c0002t0001 a0001c0011t0001	a0001c0002t0001g0093 a0001c0011t0001g0199 a0001c0002t0001g0093 a0001c0011t0001g0199	2	256	0.0078	102	c.242 others(121): Show c.242-38184_242-38183insGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40501469	A A	ACCTCCCG others(95): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCAC CTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0006 a0001c0002t0009g0006	1	256	0.0039	102	c.242 others(121): Show c.242-38184_242-38183insGAGGTGGGGGGGTCGGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537397	C C	CCCGTCCA others(95): Show CCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCC GTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0156 a0001c0009t0001g0156	1	256	0.0039	102	c.241 others(121): Show c.241+14708_241+14709insCACGGCTGGCCAGGCGGGGGACTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCTGAC CCCCCCCCCACCTCCCTCCTGGACGG	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSI2_chr17_57251523_57689689	57450303	G G	GAAAGAAA others(95): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA AGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0067 a0001c0001t0097g0067	1	168	0.0060	102	c.405 others(121): Show c.405+48851_405+48852insGAAAGAAAGAAAGAAAGAAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAAAGAAAAGAAAGAAAGAAAGAAA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MTERF3_chr8_96234402_96266610	96250663	A A	AAGGAGGA others(95): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	294	0.0034	102	c.677 others(117): Show c.677+242_677+243insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTHFD1L_chr6_150860702_151106887	150994077	A A	AAAGAAAG others(95): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18979.hp1 HG01952.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0005 a0001c0001t0003 a0001c0002t0005	a0001c0001t0003g0149 a0001c0002t0005g0074 a0001c0001t0003g0149 a0001c0002t0005g0074	2	226	0.0089	102	c.212 others(123): Show c.2126-15740_2126-15739insGAAAGAAAGAAAGAAAGAAAGAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTHFD1L_chr6_150860702_151106887	150994077	A A	AAGAAAGA others(95): Show AAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0068 a0001c0008t0001g0068	1	226	0.0044	102	c.212 others(123): Show c.2126-15741_2126-15740insGAAAGAAAGAAAGAAAGAAAGAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MTPN_chr7_135921760_135982359	135941380	A A	ACAATGGG others(95): Show ACAATGGGGAATGTCATATGCATTCCCCATTGTTGCAATGGGGAATGTCA TATGCATTCCCCATTGTTGCAATGGGGAATGTCATATGCATTCCCCATTG TTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02257.hp1 HG02451.hp2 others(2): Show HG01106.hp2 HG02257.hp1 HG02451.hp2 HG02965.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0028 a0001c0003t0007 a0001c0003t0028	a0001c0003t0007g0320 a0001c0003t0007g0321 a0001c0003t0007g0322 others(2): Show a0001c0003t0007g0320 a0001c0003t0007g0321 a0001c0003t0007g0322 a0001c0003t0007g0325 a0001c0003t0028g0323	5	386	0.0130	102	c.270 others(119): Show c.270+9218_270+9219insCAACAATGGGGAATGCATATGACATTCC CCATTGCAACAATGGGGAATGCATATGACATTCCCCATTGCAACAATGGG GAATGCATATGACATTCCCCATTG	MTPN	ENSG00000105887.11	transcript	ENST00000393085.4	protein_coding	3/3			chr7	TogoVar
MTTP_chr4_99569824_99628997	99588734	T T	TATATATG others(95): Show TATATATGTTCATATATATACACACATATATATGTTCATATATATACACA CATATATATGTTCATATATATACACACATATATATGTTCATATATATACA CAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03209.hp2 NA20300.hp1 HG01192.hp1 HG03209.hp2 NA20300.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0106 a0005c0005t0001g0120 a0005c0005t0001g0121 a0005c0005t0001g0106 a0005c0005t0001g0120 a0005c0005t0001g0121	3	364	0.0082	102	c.394 others(117): Show c.394-903_394-902insGTTCATATATATACACACATATATATGTTC ATATATATACACACATATATATGTTCATATATATACACACATATATATGT TCATATATATACACACATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTUS2_chr13_28815339_29510947	28990861	A A	AGGGTCTG others(95): Show AGGGTCTGCGGCTTCATTCCAGAAGTCAGCGAGACCACGAACCCACTGGG AAGAACAAACAACTCCGGATGCGCCACCTTTAAGAGCTGTAGCACTCACC ACG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0002 a0012c0013t0002	a0012c0013t0002g0055 a0012c0013t0002g0055	1	92	0.0109	102	c.-24 others(123): Show c.-242-33595_-242-33494dupGGGTCTGCGGCTTCATTCCAGAAG TCAGCGAGACCACGAACCCACTGGGAAGAACAAACAACTCCGGATGCGCC ACCTTTAAGAGCTGTAGCACTCACCACG	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC12_chr7_100964565_101023936	101018217	T T	TTCCCTTC others(95): Show TTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGGGACCCCTTCCCTTCC CCCTGGGACTCCCTCCCTCCCCCTGGGACCCCTTCCCTTCCCCAGGGACT CCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0181 a0001c0181	a0001c0181t0001 a0001c0181t0001	a0001c0181t0001g0069 a0001c0181t0001g0069	1	342	0.0029	102	c.159 others(121): Show c.15967-367_15967-366insTGGGACTCCCTCCCTCCCCCTGGGAC CCCTTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGGGACCCCTTCCCT TCCCCAGGGACTCCCTCCCTTCCCCC	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101018217	T T	TTCCCTTC others(95): Show TTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGGGACCCCTTCCCTTCC CCCTGGGACTCCCTCCCTCCCCCTGGGACCCCTTCCCTTCCCCAGGGACT CCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00733.hp2 HG01175.hp1 others(15): Show HG00597.hp1 HG00733.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG02683.hp1 HG02809.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18968.hp2 NA18986.hp1 NA19003.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0062 a0065 a0066 a0068	a0001c0001 a0001c0092 a0002c0003 others(11): Show a0001c0001 a0001c0092 a0002c0003 a0002c0007 a0003c0002 a0005c0005 a0005c0068 a0007c0010 a0008c0006 a0009c0008 a0062c0077 a0065c0072 a0066c0071 a0068c0070	a0001c0001t0002 a0001c0001t0004 a0001c0092t0004 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0092t0004 a0002c0003t0001 a0002c0007t0001 a0003c0002t0001 a0005c0005t0001 a0005c0068t0001 a0007c0010t0005 a0008c0006t0002 a0009c0008t0002 a0062c0077t0001 a0065c0072t0001 a0066c0071t0001 a0068c0070t0001	a0001c0001t0002g0040 a0001c0001t0004g0018 a0001c0001t0004g0264 others(15): Show a0001c0001t0002g0040 a0001c0001t0004g0018 a0001c0001t0004g0264 a0001c0001t0004g0276 a0001c0092t0004g0018 a0002c0003t0001g0001 a0002c0007t0001g0244 a0003c0002t0001g0016 a0005c0005t0001g0035 a0005c0005t0001g0218 a0005c0068t0001g0213 a0007c0010t0005g0188 a0008c0006t0002g0037 a0009c0008t0002g0181 a0062c0077t0001g0243 a0065c0072t0001g0038 a0066c0071t0001g0001 a0068c0070t0001g0038	18	366	0.0492	102	c.-19 others(113): Show c.-1919_-1918insTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGG GACCCCTTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGGGACCCCTTC CCTTCCCCAGGGACTCCC	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding		1863		chr7	TogoVar
MUC4_chr3_195741771_195816929	195767748	C C	CCACCATC others(95): Show CCACCATCATTGCCACCACCATCATCACCACCATCACCACCACCATCGCC ACCATCACCCCCAACACCACCACCATCACCACCACCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0093 a0093	a0093c0179 a0093c0179	a0093c0179t0012 a0093c0179t0012	a0093c0179t0012g0236 a0093c0179t0012g0236	1	249	0.0040	102	c.135 others(121): Show c.13530-998_13530-997insATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGTTGGGGGTGATGGTGGCGATGGTGGTGGTGATGGTGG TGATGATGGTGGTGGCAATGATGGTG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690139	G G	GAAATATA others(95): Show GAAATATATATTTAAGTATAAATATATAAATATAGAAATATATATTTAAG TATAAATATATAAATATATAAATATATATTTAAGTATAAATATATAAATA TAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01884.hp1 HG02258.hp1 others(15): Show HG00735.hp2 HG01884.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG03098.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0006c0008 a0001c0001 a0002c0004 a0006c0008	a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0034 a0002c0004t0005 a0002c0004t0011 a0002c0004t0013 a0002c0004t0018 a0006c0008t0007	a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0006g0135 others(15): Show a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0006g0135 a0001c0001t0006g0166 a0001c0001t0006g0318 a0001c0001t0009g0155 a0001c0001t0034g0152 a0002c0004t0005g0139 a0002c0004t0005g0140 a0002c0004t0005g0141 a0002c0004t0005g0142 a0002c0004t0005g0143 a0002c0004t0011g0137 a0002c0004t0011g0144 a0002c0004t0011g0180 a0002c0004t0013g0138 a0002c0004t0018g0147 a0006c0008t0007g0134	18	326	0.0552	102	c.358 others(119): Show c.358+2904_358+2905insGAAATATATATTTAAGTATAAATATATA AATATATAAATATATATTTAAGTATAAATATATAAATATATAAATATATA TTTAAGTATAAATATATAAATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA7_chr17_76674566_76715965	76702870	T T	TACGTATA others(95): Show TACGTATATATATATATATATATATATATATATACGTATATATATATACG TATATATATATATACACGTATATATATATACGTATATATATATATATATA TAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG06807.hp1 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0142 a0001c0001t0006g0144 a0001c0001t0002g0142 a0001c0001t0006g0144	2	416	0.0048	102	c.342 others(119): Show c.342+7734_342+7735insGTATATATATATATATATATACGTATAT ATATATACGTGTATATATATATATACGTATATATATATACGTATATATAT ATATATATATATATATATATACGT	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MXRA7_chr17_76674566_76715965	76702877	A A	ATATATAT others(95): Show ATATATATATACATACGTGTATATATATATATATACACACGTGTATATAT ATATATATACACATATATATATATATACGTATGTATATATATATACACGT ATG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	416	0.0024	102	c.342 others(119): Show c.342+7727_342+7728insCATACGTGTATATATATATACATACGTA TATATATATATATGTGTATATATATATATATACACGTGTGTATATATATA TATATACACGTATGTATATATATA	MXRA7	ENSG00000182534.14	transcript	ENST00000449428.7	protein_coding	1/3			chr17	TogoVar
MYDGF_chr19_4652545_4675342	4672082	T T	TGTGAATA others(95): Show TGTGAATATATATATTCATATATTCACATATGTGAATATATGAATATATA TATTCATATATTCACATATGTGAATATATATATTCATATATTCACATATG TGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG04115.hp1 HG03834.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	410	0.0049	102	c.-17 others(113): Show c.-1749_-1748insTCACATATGTGAATATATGAATATATATATTCAC ATATGTGAATATATGAATATATATATTCATATATTCACATATGTGAATAT ATGAATATATATATTCAC	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1741		chr19	TogoVar
MYO16_chr13_108624611_109213005	109023691	A A	ATATGTAT others(95): Show ATATGTATATATGCATATATACAAATATATGTATATATGCATGTGTATAT ATATGTATATATGTATATATACAAATATATGTATATATGCATATATACAT ATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03490.hp2 NA20752.hp1 HG00099.hp2 HG03490.hp2 NA20752.hp1	a0001 a0008 a0015 a0001 a0008 a0015	a0001c0017 a0008c0014 a0015c0011 a0001c0017 a0008c0014 a0015c0011	a0001c0017t0020 a0008c0014t0002 a0015c0011t0001 a0001c0017t0020 a0008c0014t0002 a0015c0011t0001	a0001c0017t0020g0117 a0008c0014t0002g0054 a0015c0011t0001g0124 a0001c0017t0020g0117 a0008c0014t0002g0054 a0015c0011t0001g0124	3	152	0.0197	102	c.279 others(121): Show c.2796+3792_2796+3793insCATATATACAAATATATGTATATATG CATGTGTATATATATGTATATATGTATATATACAAATATATGTATATATG CATATATACATATGTATGTATATATG	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1E_chr15_59127434_59377871	59282928	G G	GGAGGGGG others(95): Show GGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGA GGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGG GGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	226	0.0044	102	c.4-1 others(117): Show c.4-10480_4-10479insTCCCCCCTCCCCCTCCCCCCTCCCCCCTCC CCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCCTCCCCCTCCCCCCTC	MYO1E	ENSG00000157483.9	transcript	ENST00000288235.9	protein_coding	1/27			chr15	TogoVar
MYO1F_chr19_8515778_8582442	8543678	G G	GTGGTGGT others(95): Show GTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGT GGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGG TGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0320 a0001c0001t0004g0320	1	342	0.0029	102	c.152 others(119): Show c.1524+618_1524+619insGCACCACCAGCACCACCACCACCACCAC CACCACCACCACCACCACCAGCACCACCACCACCACCACCAGCACCACCA GCACCACCAGCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543687	G G	GTGGTGCT others(95): Show GTGGTGCTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGT GGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGG TGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp2 HG02886.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0003 a0001c0001t0003 a0001c0010t0003	a0001c0001t0003g0117 a0001c0010t0003g0267 a0001c0001t0003g0117 a0001c0010t0003g0267	2	342	0.0059	102	c.152 others(119): Show c.1524+609_1524+610insGCACCACCACCACCACCAGCACCACCAC CACCACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCAGCA CCACCAGCACCACCACCAGCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543801	C C	CTGCTGGT others(95): Show CTGCTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCT GGTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGGTGATGGTGGTGATGG TGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	342	0.0029	102	c.152 others(119): Show c.1524+495_1524+496insCCACCATCACCACCATCACCACCACCAG CACCACCACCACCAGCACCACCACCAGCACCACCAGCACCACCAGCACCA CCACCACCACCAGCACCACCAGCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543894	G G	GTGGTGCT others(95): Show GTGGTGCTGGTGCTGGTGCTGGTGGTGGTGCTGGTGGTGGCGGTGGCGGT GGCGGTGGCGGTGGCGGTGCTGGTGGTGGTGCTGGTGGTGGTGGTGGTGG TGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	342	0.0029	102	c.152 others(119): Show c.1524+402_1524+403insGCACCACCACCACCACCACCAGCACCAC CACCAGCACCGCCACCGCCACCGCCACCGCCACCGCCACCACCAGCACCA CCACCAGCACCAGCACCAGCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYOM2_chr8_2040046_2150456	2086369	T T	TGTGATCT others(95): Show TGTGATCTTTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCCA CTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACT GTC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0290 a0001c0014t0002g0290	1	403	0.0025	102	c.164 others(119): Show c.1644+986_1644+987insTTGCGTGGCCCCCCACAGTCGTGATCTC TGCGTGGCCTCCCACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATC TCTGGCACCCCACTGTCGTGATCT	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYZAP_chr15_57586904_57690364	57678666	A A	AAAACTCT others(95): Show AAAACTCTGGGAGGCCCAGTGATTGATAAGGTCTCTTGGCGATCATTTAT TGTCTTGTTTAGTTCTGTAGATCTATTATTTGATTTATTTTCTTTTTCTT ATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0151 a0001c0003t0003g0151	1	352	0.0028	102	c.130 others(121): Show c.1304+3633_1304+3634insTGGCGATCATTTATTGTCTTGTTTAG TTCTGTAGATCTATTATTTGATTTATTTTCTTTTTCTTATTAAACTCTGG GAGGCCCAGTGATTGATAAGGTCTCT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
NAALADL2_chr3_174854334_175815548	174987827	T T	TATATATA others(95): Show TATATATATATATTTATATATATATATATAATTATATATATATATTTATA TATATATATAATTATATATATATATATATATATATATATATATATATATA TAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0007 a0012c0017t0007	a0012c0017t0007g0025 a0012c0017t0007g0025	1	64	0.0156	102	c.44- others(121): Show c.44-108962_44-108961insTATATATATATTTATATATATATATA TAATTATATATATATATTTATATATATATATAATTATATATATATATATA TATATATATATATATATATATATAAA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190690011	T T	TCTATACA others(95): Show TCTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TAGTATACATATATGTATACTATACATATATGTATACTATACATATATGT ATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02896.hp1 others(4): Show HG02258.hp1 HG02559.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0238 a0001c0001t0001g0239 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240	7	374	0.0187	102	c.137 others(119): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATAGTATACATATATGTATACTATACATATATGTATACTATACATAT ATGTATACTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NAB1_chr2_190644083_190697766	190690011	T T	TCTATACA others(95): Show TCTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TAGTATACATATATGTATAGTATACATATATGTATAGTATACATATATGT ATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18977.hp1 HG02027.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0211 a0001c0001t0001g0148 a0001c0001t0001g0211	2	374	0.0054	102	c.137 others(119): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATAGTATACATATATGTATAGTATACATATATGTATAGTATACATAT ATGTATACTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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