Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	414	0.0024	37	c.226 others(54): Show c.226-3489_226-3488insATATATATATATATATATATATATTTTT TTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18964.hp1 NA18949.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	414	0.0048	37	c.226 others(54): Show c.226-3489_226-3488insATATATATATATATATATATATATATTT TTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	414	0.0024	37	c.226 others(54): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT TTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(30): Show AAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	414	0.0024	37	c.226 others(54): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	414	0.0024	37	c.226 others(54): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATATTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MORN3_chr12_121643742_121674654	121669813	C C	CATATATA others(30): Show CATATATATATATATATATATATAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02976.hp2 HG02451.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	2	384	0.0052	37	c.-33 others(46): Show c.-331_-330insATATATATATATATTATATATATATATATATATATA T	MORN3	ENSG00000139714.12	transcript	ENST00000355329.7	protein_coding		160		chr12	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0003 a0012c0033t0003	a0012c0033t0003g0169 a0012c0033t0003g0169	1	302	0.0033	37	c.429 others(54): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13279263	A A	ACCCCCAC others(30): Show ACCCCCACCCCCCACCCCCGCCCCCACCCCCACCCCCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	302	0.0033	37	c.-58 others(52): Show c.-58+136_-58+137insCGGGGGTGGGGGTGGGGGCGGGGGTGGGGG GTGGGGG	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	1/46			chr9	TogoVar
MPEG1_chr11_59203510_59217927	59217919	A A	AGGAAGGA others(30): Show AGGAAGGAGGGAGGAAGGGAGGGAGGGAGGGGAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(118): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19081.hp2 NA19087.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0015c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(28): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0051 a0001c0001t0060 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0016 a0003c0003t0005 a0003c0003t0057 a0015c0016t0034	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 others(28): Show a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0011g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0001t0019g0000 a0001c0001t0024g0000 a0001c0001t0026g0000 a0001c0001t0027g0000 a0001c0001t0031g0000 a0001c0001t0032g0000 a0001c0001t0035g0000 a0001c0001t0036g0000 a0001c0001t0037g0000 a0001c0001t0038g0000 a0001c0001t0039g0000 a0001c0001t0040g0000 a0001c0001t0042g0000 a0001c0001t0044g0000 a0001c0001t0047g0000 a0001c0001t0051g0000 a0001c0001t0060g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0007g0000 a0002c0002t0016g0000 a0003c0003t0005g0000 a0003c0003t0057g0000 a0015c0016t0034g0000	121	418	0.2895	37	c.-50 others(48): Show c.-5055_-5054insCTTCCTCCCCTCCCTCCCTCCCTTCCTCCCTCCT TCC	MPEG1	ENSG00000197629.6	transcript	ENST00000361050.4	protein_coding		4993		chr11	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	444	0.0023	37	c.67+ others(50): Show c.67+286_67+287insAAAAAAAAAAAAAAAAAAATATATATATATAT ATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MRGPRG_chr11_3212944_3223813	3216862	C C	CTCTTCTC others(30): Show CTCTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00642.hp1 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	426	0.0047	37	c.10 others(48): Show c.1081_*1082insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AGA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1081		chr11	TogoVar
MRI1_chr19_13759522_13779282	13767861	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	460	0.0022	37	c.548 others(52): Show c.548-675_548-674insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MROH1_chr8_144143016_144266926	144181294	C C	CCCGGTGA others(30): Show CCCGGTGATGGGGGAGGGGCCCGGTGATGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02486.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp2 NA20300.hp1	a0002 a0004 a0002 a0004	a0002c0008 a0004c0025 a0002c0008 a0004c0025	a0002c0008t0001 a0004c0025t0001 a0002c0008t0001 a0004c0025t0001	a0002c0008t0001g0020 a0002c0008t0001g0036 a0002c0008t0001g0038 others(2): Show a0002c0008t0001g0020 a0002c0008t0001g0036 a0002c0008t0001g0038 a0002c0008t0001g0058 a0004c0025t0001g0021	5	140	0.0357	37	c.562 others(52): Show c.562+791_562+792insCGGTGATGGGGGAGGGGCCGGTGATGGGGG AGGGGCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787819	A A	ACATATAT others(30): Show ACATATATATTATATATATACATATATTATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04115.hp1 NA18967.hp2 HG02683.hp2 HG04115.hp1 NA18967.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0024 a0007c0009 a0001c0001 a0005c0024 a0007c0009	a0001c0001t0001 a0005c0024t0001 a0007c0009t0001 a0001c0001t0001 a0005c0024t0001 a0007c0009t0001	a0001c0001t0001g0269 a0005c0024t0001g0202 a0007c0009t0001g0194 a0001c0001t0001g0269 a0005c0024t0001g0202 a0007c0009t0001g0194	3	378	0.0079	37	c.277 others(54): Show c.277-1678_277-1677insCATATATATTATATATATACATATATTA TATATATAC	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGTGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	404	0.0025	37	c.48+ others(52): Show c.48+1416_48+1417insACACACACACACACACCACTCTCTCTCTCT CTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216385	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	404	0.0025	37	c.48+ others(52): Show c.48+1416_48+1417insACACACACACACACACACACCTCTCTCTCT CTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MSLN_chr16_755734_773862	767806	C C	CGCGTGGA others(30): Show CGCGTGGAGGGGGGCGCGTGGGGGGGGTGCATGGGGGG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0035 a0005c0005t0001g0035	1	388	0.0026	37	c.159 others(54): Show c.1596+362_1596+363insTGCATGGGGGGGCGTGGAGGGGGGCGCG TGGGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	398	0.0025	37	c.-10 others(48): Show c.-1006_-1005insTATATATATATATATATATATATATATATATATA TTT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MTA3_chr2_42563632_42761946	42621826	C C	CGGGCAGA others(30): Show CGGGCAGAGGCGCTCCTCACATCCCAGATGGGGCGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG02922.hp2 others(2): Show HG02559.hp1 HG02886.hp2 HG02922.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0001t0002 a0001c0001t0009 a0001c0001t0014	a0001c0001t0002g0012 a0001c0001t0002g0280 a0001c0001t0009g0278 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0280 a0001c0001t0009g0278 a0001c0001t0009g0279 a0001c0001t0014g0082	5	312	0.0160	37	c.317 others(56): Show c.317+12257_317+12258insTCACATCCCAGATGGGGCGGCGGGGC AGAGGCGCTCC	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42719471	T T	TTACTTAT others(30): Show TTACTTATTAAAATGAGATCAAACTGGTTTATAACTTA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	312	0.0032	37	c.161 others(54): Show c.1612+399_1612+435dupACTTATTAAAATGAGATCAAACTGGTTT ATAACTTAT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTCH2_chr11_47612317_47647559	47633526	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	370	0.0027	37	c.369 others(54): Show c.369+1145_369+1146insAAATATATATATATATATATATATATAT ATATATATA	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTCH2_chr11_47612317_47647559	47633527	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0076 a0002c0002t0001g0076	1	370	0.0027	37	c.369 others(54): Show c.369+1144_369+1145insTATATATATATATATATATATATATATA TATATATAT	MTCH2	ENSG00000109919.10	transcript	ENST00000302503.8	protein_coding	5/12			chr11	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	370	0.0027	37	c.104 others(56): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697150	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0070 a0007c0011t0070	a0007c0011t0070g0016 a0007c0011t0070g0016	1	370	0.0027	37	c.104 others(56): Show c.1049-2603_1049-2602insATATATATATATATATATATATATTT TTTTTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250620	G G	GAAAAGAA others(30): Show GAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	294	0.0034	37	c.677 others(52): Show c.677+285_677+286insTCTTCTTTCTTCTTCTTCTTCTTCTTCTTC TTCTTTT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250694	A A	AGGAGGAG others(30): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	294	0.0034	37	c.677 others(52): Show c.677+211_677+212insCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTFP1_chr22_30420768_30434054	30432812	C C	CTCAGGGA others(30): Show CTCAGGGACTCCTGTGCCTCCAGTTCTGGGCCAGGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	444	0.0023	37	c.42 others(48): Show c.4278_*4279insTCAGGGACTCCTGTGCCTCCAGTTCTGGGCCAGG TTA	MTFP1	ENSG00000242114.6	transcript	ENST00000266263.10	protein_coding		3759		chr22	TogoVar
MTFR1_chr8_65639734_65715562	65655951	A A	ATATATAT others(30): Show ATATATATATATATATGTATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	348	0.0029	37	c.-81 others(56): Show c.-81+11167_-81+11168insTATATATATATATATGTATATATATA TATATATATGT	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTFR1_chr8_65639734_65715562	65655969	C C	CATATATA others(30): Show CATATATATATATATATATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	348	0.0029	37	c.-81 others(56): Show c.-81+11185_-81+11186insATATATATATATATATATGTATATAT ATATATATATA	MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding	1/7			chr8	TogoVar
MTHFD1_chr14_64383353_64465025	64430434	G G	GATTACAG others(30): Show GATTACAGGCATGCACCACCACGCTCAGCTAATTTTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp2 HG02897.hp2 others(1): Show HG02647.hp1 HG02886.hp2 HG02897.hp2 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0007 a0003c0003t0002g0100 a0003c0003t0002g0124 others(1): Show a0001c0001t0002g0007 a0003c0003t0002g0100 a0003c0003t0002g0124 a0003c0003t0002g0190	4	342	0.0117	37	c.131 others(54): Show c.1311+208_1311+244dupACAGGCATGCACCACCACGCTCAGCTAA TTTTGTATT	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTM1_chrX_150563621_150678143	150583219	A A	ATTATATA others(30): Show ATTATATAAATTATATATAAATTATAAATTTATATAAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	277	0.0036	37	c.-10 others(54): Show c.-10-9357_-10-9321dupTTATATAATTTATATAAATTATATATAA ATTATAAAT	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(30): Show CCACACACATGCGCGCGCAGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0040	a0002c0003t0040g0066 a0002c0003t0040g0066	1	372	0.0027	37	c.371 others(54): Show c.3711+190_3711+191insTGCGCGCGCAGCGCGCGCGCGCGCGCGC GCACACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTUS1_chr8_17638802_17806094	17767700	T T	TAAGAAAA others(30): Show TAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp1 HG02559.hp2 HG03041.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0013 a0006c0019t0002 a0006c0019t0013	a0006c0019t0002g0039 a0006c0019t0013g0187 a0006c0019t0002g0039 a0006c0019t0013g0187	2	330	0.0061	37	c.-15 others(58): Show c.-154-11740_-154-11739insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTCTT	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	1/14			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29170116	A A	AAAGACCC others(30): Show AAAGACCCTTGGGAAGGAGGATACTCAAGTGTGAGAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18944.hp2 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015	a0001c0001 a0001c0005 a0001c0010 others(20): Show a0001c0001 a0001c0005 a0001c0010 a0001c0012 a0002c0002 a0002c0011 a0003c0003 a0003c0009 a0004c0008 a0004c0016 a0004c0019 a0004c0020 a0005c0007 a0006c0006 a0007c0004 a0008c0023 a0009c0022 a0010c0021 a0011c0015 a0012c0013 a0013c0014 a0014c0018 a0015c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0005t0001 a0001c0005t0003 a0001c0005t0014 a0001c0010t0006 a0001c0012t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0002c0011t0023 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0009t0020 a0003c0009t0029 a0004c0008t0009 a0004c0016t0012 a0004c0019t0001 a0004c0020t0001 a0005c0007t0002 a0005c0007t0010 a0005c0007t0018 a0006c0006t0002 a0006c0006t0005 a0006c0006t0009 a0007c0004t0001 a0007c0004t0002 a0008c0023t0022 a0009c0022t0007 a0010c0021t0008 a0011c0015t0004 a0012c0013t0002 a0013c0014t0003 a0014c0018t0015 a0015c0017t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 others(79): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0048 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0003g0038 a0001c0001t0003g0086 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0021 a0001c0001t0007g0020 a0001c0001t0007g0022 a0001c0001t0010g0090 a0001c0001t0011g0010 a0001c0001t0013g0073 a0001c0001t0016g0029 a0001c0001t0017g0025 a0001c0001t0021g0016 a0001c0001t0030g0033 a0001c0001t0031g0032 a0001c0001t0032g0034 a0001c0001t0033g0087 a0001c0005t0001g0074 a0001c0005t0003g0018 a0001c0005t0014g0026 a0001c0010t0006g0004 a0001c0012t0010g0068 a0002c0002t0001g0014 a0002c0002t0001g0070 a0002c0002t0002g0057 a0002c0002t0003g0012 a0002c0002t0003g0035 a0002c0002t0003g0063 a0002c0002t0003g0066 a0002c0002t0004g0039 a0002c0002t0004g0058 a0002c0002t0006g0071 a0002c0002t0008g0092 a0002c0002t0009g0067 a0002c0002t0011g0064 a0002c0002t0012g0003 a0002c0002t0013g0011 a0002c0002t0024g0059 a0002c0002t0025g0079 a0002c0002t0026g0036 a0002c0002t0027g0050 a0002c0002t0028g0062 a0002c0011t0023g0041 a0003c0003t0001g0037 a0003c0003t0001g0075 a0003c0003t0003g0009 a0003c0003t0004g0061 a0003c0009t0020g0052 a0003c0009t0029g0005 a0004c0008t0009g0072 a0004c0016t0012g0076 a0004c0019t0001g0015 a0004c0020t0001g0017 a0005c0007t0002g0060 a0005c0007t0010g0081 a0005c0007t0018g0028 a0006c0006t0002g0049 a0006c0006t0005g0024 a0006c0006t0009g0089 a0007c0004t0001g0088 a0007c0004t0002g0013 a0008c0023t0022g0053 a0009c0022t0007g0023 a0010c0021t0008g0051 a0011c0015t0004g0002 a0012c0013t0002g0055 a0013c0014t0003g0001 a0014c0018t0015g0027 a0015c0017t0001g0006	82	92	0.8913	37	c.264 others(58): Show c.2644+69148_2644+69184dupAGACCCTTGGGAAGGAGGATACTC AAGTGTGAGAGGA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUSK_chr9_110663791_110811558	110755939	T T	TATATATA others(30): Show TATATATATACATATATATAACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	326	0.0031	37	c.914 others(54): Show c.914-6254_914-6253insCATATATATAACATATATATATATATAC ATATATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MXRA8_chr1_1347691_1363555	1350426	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	1	338	0.0030	37	c.31 others(48): Show c.3177_*3178insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2264		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350481	G G	GGGGCAGG others(30): Show GGGGCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA20129.hp2 HG03471.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	2	338	0.0059	37	c.31 others(48): Show c.3122_*3123insGGTCCAGGCCCCCTCACTCCCCCCGTCGCTCCTG CCC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2209		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350521	G G	GGGGCAGG others(30): Show GGGGCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	1	338	0.0030	37	c.30 others(48): Show c.3082_*3083insGGTCCAGGCCCCCTCACTCCCCCCGTCGCTCCTG CCC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2169		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350546	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	1	338	0.0030	37	c.30 others(48): Show c.3057_*3058insACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2144		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350626	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0052 a0002c0003t0004g0052	1	338	0.0030	37	c.29 others(48): Show c.2977_*2978insACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2064		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350666	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0024 a0002c0003t0010g0024	1	338	0.0030	37	c.29 others(48): Show c.2937_*2938insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2024		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350706	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	1	338	0.0030	37	c.28 others(48): Show c.2897_*2898insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1984		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350746	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0012 a0002c0003t0004 a0002c0003t0012	a0002c0003t0004g0005 a0002c0003t0012g0025 a0002c0003t0004g0005 a0002c0003t0012g0025	2	338	0.0059	37	c.28 others(48): Show c.2857_*2858insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1944		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350786	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02559.hp1 HG01109.hp2 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0012 a0002c0003t0004 a0002c0003t0012	a0002c0003t0004g0005 a0002c0003t0012g0025 a0002c0003t0004g0005 a0002c0003t0012g0025	2	338	0.0059	37	c.28 others(48): Show c.2817_*2818insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1904		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350786	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	1	338	0.0030	37	c.28 others(48): Show c.2817_*2818insACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1904		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350826	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0052 a0002c0003t0004g0052	1	338	0.0030	37	c.27 others(48): Show c.2777_*2778insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1864		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1350866	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0005 a0002c0003t0004g0005	1	338	0.0030	37	c.27 others(48): Show c.2737_*2738insACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1824		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1351426	G G	GGAGGGGG others(30): Show GGAGGGGGCCTGGACGGGGCTGGAGCGGTGGGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01891.hp2 HG03041.hp1 others(9): Show HG01346.hp2 HG01891.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18906.hp2 NA18966.hp2 NA19043.hp1 NA19089.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(3): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0002c0003t0004 a0002c0003t0010 a0002c0003t0012	a0001c0001t0004g0009 a0001c0001t0005g0018 a0001c0001t0008g0026 others(4): Show a0001c0001t0004g0009 a0001c0001t0005g0018 a0001c0001t0008g0026 a0002c0003t0004g0005 a0002c0003t0004g0052 a0002c0003t0010g0024 a0002c0003t0012g0025	12	338	0.0355	37	c.21 others(48): Show c.2177_*2178insACTCTCCCCACCGCTCCAGCCCCGTCCAGGCCCC CTC	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1264		chr1	TogoVar
MYADM_chr19_53862883_53881435	53870355	C C	CGAGGGAG others(30): Show CGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCTGGGTCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	378	0.0027	37	c.-3+ others(50): Show c.-3+574_-3+610dupGCCTGGGCTCCTGGGTCTGAGGGAGGAGGGGC TGGGG	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYBPC1_chr12_101589971_101691028	101591770	C C	CTCTTCTT others(30): Show CTCTTCTTCTTCTTTTCTTCTTCTTCTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA19043.hp1 HG02572.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0002 a0002c0002t0001 a0001c0005t0002 a0002c0002t0001	a0001c0005t0002g0023 a0002c0002t0001g0012 a0001c0005t0002g0023 a0002c0002t0001g0012	2	360	0.0056	37	c.-33 others(48): Show c.-3301_-3300insTCTTCTTCTTCTTTTCTTCTTCTTCTCTTCTTCT TCT	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		3200		chr12	TogoVar

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Search Results (Total: 3614 hits)