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
MRGPRG_chr11_3212944_3223813	3216943	C C	CTTGCTTT others(16): Show CTTGCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG00735.hp2 HG01109.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	2	426	0.0047	23	c.10 others(34): Show c.1000_*1001insAAAGAAAGAAAGAAAGAAAGCAA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1000		chr11	TogoVar
MRGPRG_chr11_3212944_3223813	3216950	T T	TCTTTCTT others(16): Show TCTTTCTTTTTCCTTCCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	1	426	0.0024	23	c.99 others(32): Show c.993_*994insGAAGAAAGGAAGGAAAAAGAAAG	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		993		chr11	TogoVar
MRI1_chr19_13759522_13779282	13767038	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	460	0.0022	23	c.547 others(38): Show c.547+909_547+910insATATATATATATATATATATATA	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5			chr19	TogoVar
MRI1_chr19_13759522_13779282	13767861	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	460	0.0022	23	c.548 others(38): Show c.548-697_548-675dupTTTTTTTTTTTTTTTTTTTTTTT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MROH1_chr8_144143016_144266926	144195195	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG02083.hp1 others(2): Show HG00099.hp1 HG00408.hp2 HG02083.hp1 HG02895.hp2 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0024 a0003c0003 a0001c0001 a0001c0024 a0003c0003	a0001c0001t0001 a0001c0024t0001 a0003c0003t0001 a0001c0001t0001 a0001c0024t0001 a0003c0003t0001	a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0062 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0024t0001g0105 a0003c0003t0001g0075	5	140	0.0357	23	c.948 others(40): Show c.948+2796_948+2818dupAAAAAAAAAAAAAAAAAAAAAAA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203221	G G	GGGGGGGG others(16): Show GGGGGGGGAGCGCCCGCTGTCTGT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02965.hp2 HG03540.hp1 others(1): Show HG02886.hp2 HG02965.hp2 HG03540.hp1 NA18906.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0005 a0002c0004 a0004c0005	a0002c0004t0001 a0004c0005t0001 a0002c0004t0001 a0004c0005t0001	a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0033 others(1): Show a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0033 a0004c0005t0001g0133	4	140	0.0286	23	c.114 others(42): Show c.1141+2682_1141+2683insGGGGGAGCGCCCGCTGTCTGTGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218826	T T	TCCCCTCC others(16): Show TCCCCTCCTCCCCTCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	140	0.0071	23	c.114 others(42): Show c.1142-1763_1142-1762insCTCCCCCCTCCCCCCCTCCTCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp1 HG01516.hp1 others(7): Show HG00642.hp2 HG01168.hp1 HG01516.hp1 HG01952.hp2 HG02486.hp1 HG02559.hp1 HG03654.hp1 HG03654.hp2 NA18966.hp1 NA19056.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0048	a0001c0002 a0001c0037 a0004c0003 others(2): Show a0001c0002 a0001c0037 a0004c0003 a0007c0013 a0048c0068	a0001c0002t0001 a0001c0037t0001 a0004c0003t0001 others(2): Show a0001c0002t0001 a0001c0037t0001 a0004c0003t0001 a0007c0013t0001 a0048c0068t0001	a0001c0002t0001g0009 a0001c0002t0001g0310 a0001c0002t0001g0315 others(6): Show a0001c0002t0001g0009 a0001c0002t0001g0310 a0001c0002t0001g0315 a0001c0037t0001g0316 a0001c0037t0001g0343 a0004c0003t0001g0278 a0004c0003t0001g0279 a0007c0013t0001g0342 a0048c0068t0001g0344	10	396	0.0253	23	c.757 others(38): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAAAAAAA	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41			chr5	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	380	0.0026	23	c.296 others(42): Show c.2965-1160_2965-1159insCTTTCTTTCTTTCTTTCTTTCTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL14_chr6_44108451_44132452	44127186	A A	ACCCCCCC others(16): Show ACCCCCCCCCTCCCCGTCGGGACC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	436	0.0023	23	c.-19 others(38): Show c.-19+157_-19+158insGGTCCCGACGGGGAGGGGGGGGG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL16_chr11_59801140_59815778	59812892	T T	TTCCGATC others(16): Show TTCCGATCTCGGCTCACTGCCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	320	0.0031	23	c.-22 others(34): Show c.-2235_-2234insGTTGGCAGTGAGCCGAGATCGGA	MRPL16	ENSG00000166902.5	transcript	ENST00000300151.5	protein_coding		2115		chr11	TogoVar
MRPL27_chr17_50362867_50378184	50373184	C C	CACTTCCG others(16): Show CACTTCCGGTCTCGAAAAGTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG04204.hp2 HG03669.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	372	0.0054	23	c.-37 others(30): Show c.-37_-15dupAGAAACTTTTCGAGACCGGAAGT	MRPL27	ENSG00000108826.16	transcript	ENST00000225969.9	protein_coding		1		chr17	TogoVar
MRPL38_chr17_75893644_75909884	75907506	G G	GTATTTTT others(16): Show GTATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG03225.hp1 HG02145.hp1 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0081 a0001c0002t0001g0022 a0001c0002t0001g0081	3	354	0.0085	23	c.-26 others(34): Show c.-2632_-2631insAAAAAAAAAAAAAAAAAAAAATA	MRPL38	ENSG00000204316.13	transcript	ENST00000309352.4	protein_coding		2623		chr17	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(16): Show GCCCCCCCCACCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	424	0.0024	23	c.25 others(34): Show c.2520_*2521insCCCCCCCCACCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL47_chr3_179583285_179609638	179598426	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	388	0.0026	23	c.402 others(38): Show c.402+248_402+249insGTGTGTGTGTGTGTGTGTGTGTG	MRPL47	ENSG00000136522.14	transcript	ENST00000476781.6	protein_coding	4/6			chr3	TogoVar
MRPL49_chr11_65117321_65132371	65123688	C C	CACACCAC others(16): Show CACACCACTGCACTCCAGCCTAGG	intron_variant intron_variant	MODIFIER	NA18976.hp1 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	398	0.0025	23	c.79- others(36): Show c.79-813_79-791dupACACCACTGCACTCCAGCCTAGG	MRPL49	ENSG00000149792.9	transcript	ENST00000279242.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL53_chr2_74466982_74477680	74471814	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	23	c.30 others(32): Show c.304_*305insTTTTTTTTTTTTTTTTTTTTTTT	MRPL53	ENSG00000204822.7	transcript	ENST00000258105.8	protein_coding		167		chr2	TogoVar
MRPL9_chr1_151754647_151768496	151760903	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0063 a0004c0005t0001g0063	1	436	0.0023	23	c.589 others(35): Show c.589-27_589-5dupTTTTTTTTTTTTTTTTTTTTTTT	MRPL9	ENSG00000143436.11	transcript	ENST00000368830.8	protein_coding	5/6			chr1	TogoVar
MRPS15_chr1_36450718_36469384	36464059	A A	ATCTCCCC others(16): Show ATCTCCCCTACTCCTGTGCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00609.hp1 others(79): Show HG00099.hp2 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02258.hp2 HG02273.hp1 HG02523.hp2 HG02615.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18989.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0120 a0001c0001t0004g0122	82	428	0.1916	23	c.130 others(36): Show c.130+64_130+86dupAGGAAGCACAGGAGTAGGGGAGA	MRPS15	ENSG00000116898.12	transcript	ENST00000373116.6	protein_coding	1/7			chr1	TogoVar
MRPS28_chr8_79913717_80035259	80028645	C C	CGGGCGGG others(16): Show CGGGCGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	300	0.0033	23	c.213 others(40): Show c.213+1390_213+1391insCCCCCCCCCCCCCCCCCCCGCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028648	G G	GCGGGGGG others(16): Show GCGGGGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	300	0.0033	23	c.213 others(40): Show c.213+1387_213+1388insGCCCCCCCCCCCCCCCCCCCCCG	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028652	G G	GGGGGGGG others(16): Show GGGGGGGGGGGGGGGGGGGGCGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0262 a0002c0002t0001g0262	1	300	0.0033	23	c.213 others(40): Show c.213+1383_213+1384insTCCGCCCCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS33_chr7_140997610_141019952	141000202	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA18906.hp2 HG02280.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0034 a0001c0001t0005 a0001c0001t0034	a0001c0001t0005g0005 a0001c0001t0034g0044 a0001c0001t0005g0005 a0001c0001t0034g0044	2	340	0.0059	23	c.62 others(34): Show c.6227_*6228insAAAAAAAAAAAAAAAAAAAAAAA	MRPS33	ENSG00000090263.16	transcript	ENST00000324787.10	protein_coding		2407		chr7	TogoVar
MRTFB_chr16_14066319_14271773	14243864	G G	GTTTGTTT others(16): Show GTTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0207 a0001c0001t0007g0207	1	240	0.0042	23	c.108 others(42): Show c.1080-1661_1080-1660insGTTTTTTTTTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14243864	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	240	0.0042	23	c.108 others(42): Show c.1080-1651_1080-1650insTTTTTTTTTTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A10_chr11_60780333_60806305	60796540	C C	CCAGGATG others(16): Show CCAGGATGCAAAACCTCATCTATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	432	0.0023	23	c.603 others(38): Show c.603+876_603+877insAGGATGCAAAACCTCATCTATAC	MS4A10	ENSG00000172689.2	transcript	ENST00000308287.2	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MS4A10_chr11_60780333_60806305	60801355	A A	AATGTTCC others(16): Show AATGTTCCCTTTGAAAGGGCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	432	0.0023	23	c.14 others(34): Show c.1446_*1447insATGTTCCCTTTGAAAGGGCACTG	MS4A10	ENSG00000172689.2	transcript	ENST00000308287.2	protein_coding		51		chr11	TogoVar
MS4A18_chr11_60719720_60750028	60746539	A A	AGCAAGGA others(16): Show AGCAAGGAAAGAATCACTCAGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	416	0.0024	23	c.25 others(34): Show c.2545_*2546insGCAAGGAAAGAATCACTCAGCCT	MS4A18	ENSG00000214782.8	transcript	ENST00000529108.6	protein_coding		1512		chr11	TogoVar
MS4A2_chr11_60083664_60103467	60091483	T T	TTTCCAAA others(16): Show TTTCCAAAAGCTTCCCTGTGTATC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0044 a0001c0001t0020g0044	1	418	0.0024	23	c.321 others(40): Show c.321+1016_321+1038dupCCAAAAGCTTCCCTGTGTATCTT	MS4A2	ENSG00000149534.9	transcript	ENST00000278888.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
MSH3_chr5_80649652_80881815	80755220	C C	CCTCTTAC others(16): Show CCTCTTACTGTTTGTCCCGACTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02965.hp1 others(5): Show HG02622.hp1 HG02809.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03453.hp2 HG03579.hp1 NA19043.hp2	a0001 a0007 a0012 others(1): Show a0001 a0007 a0012 a0029	a0001c0001 a0007c0008 a0012c0013 others(1): Show a0001c0001 a0007c0008 a0012c0013 a0029c0036	a0001c0001t0005 a0007c0008t0005 a0007c0008t0027 others(2): Show a0001c0001t0005 a0007c0008t0005 a0007c0008t0027 a0012c0013t0005 a0029c0036t0006	a0001c0001t0005g0183 a0007c0008t0005g0016 a0007c0008t0005g0017 others(5): Show a0001c0001t0005g0183 a0007c0008t0005g0016 a0007c0008t0005g0017 a0007c0008t0027g0031 a0012c0013t0005g0033 a0012c0013t0005g0034 a0012c0013t0005g0035 a0029c0036t0006g0018	8	362	0.0221	23	c.176 others(42): Show c.1764-6324_1764-6302dupTCTTACTGTTTGTCCCGACTGTC	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80784212	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0011 a0010c0014t0011	a0010c0014t0011g0301 a0010c0014t0011g0301	1	362	0.0028	23	c.243 others(42): Show c.2436-3348_2436-3326dupAAAAAAAAAAAAAAAAAAAAAAA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75846109	C C	CTATGCCA others(16): Show CTATGCCAGAATTAAGGAAGCATT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00558.hp2 others(99): Show HG00280.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp1 HG01070.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01884.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG04204.hp1 NA18939.hp2 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0002 a0003c0005 a0005c0006 others(1): Show a0001c0002 a0003c0005 a0005c0006 a0009c0011	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0003c0005t0001 a0005c0006t0001 a0009c0011t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 others(99): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0240 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0005g0283 a0001c0002t0006g0293 a0003c0005t0001g0037 a0003c0005t0001g0158 a0003c0005t0001g0159 a0003c0005t0001g0160 a0003c0005t0001g0161 a0003c0005t0001g0162 a0003c0005t0001g0163 a0003c0005t0001g0164 a0003c0005t0001g0165 a0003c0005t0001g0166 a0003c0005t0001g0167 a0003c0005t0001g0168 a0003c0005t0001g0169 a0003c0005t0001g0170 a0003c0005t0001g0171 a0003c0005t0001g0173 a0003c0005t0001g0174 a0003c0005t0001g0176 a0003c0005t0001g0177 a0003c0005t0001g0178 a0005c0006t0001g0078 a0005c0006t0001g0079 a0005c0006t0001g0080 a0005c0006t0001g0081 a0005c0006t0001g0082 a0009c0011t0001g0172	102	332	0.3072	23	c.116 others(42): Show c.1163-2099_1163-2098insATGCCAGAATTAAGGAAGCATTT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH5_chr6_31735005_31767676	31746080	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0314	1	397	0.0025	23	c.766 others(38): Show c.766+761_766+762insGTGTGTGTGTGTGTGTGTGTGTG	MSH5	ENSG00000204410.16	transcript	ENST00000375750.9	protein_coding	9/24			chr6	TogoVar
MSH6_chr2_47778145_47811953	47788906	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0248 a0002c0002t0001g0248	1	390	0.0026	23	c.261 others(40): Show c.261-2021_261-2020insTTTTTTTTTTTTTTGTTTTTTTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9			chr2	TogoVar
MSH6_chr2_47778145_47811953	47788913	T T	TTTTTTTT others(16): Show TTTTTTTTGTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	390	0.0026	23	c.261 others(40): Show c.261-2007_261-2006insGTTTTTTTTGTTTTTGTTTTTTT	MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSI2_chr17_57251523_57689689	57410008	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0038 a0001c0001t0021g0038	1	168	0.0060	23	c.405 others(40): Show c.405+8554_405+8555insAAAAAAAAAAAAAAAAAAAAAAA	MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSL1_chr17_40116971_40141917	40140349	C C	CACACACA others(16): Show CACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0011 a0001c0002t0008g0011	1	356	0.0028	23	c.59 others(34): Show c.5980_*5981insACACACACACACACACACACACA	MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding		3433		chr17	TogoVar
MSLN_chr16_755734_773862	767561	G G	GGGGGCGC others(16): Show GGGGGCGCGTGGAGGGGGGAGCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	388	0.0026	23	c.159 others(38): Show c.1596+95_1596+96insCGCGTGGAGGGGGGAGCGTGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767581	C C	CGCGTGGA others(16): Show CGCGTGGAGGGGGGAGCGTGGGGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02145.hp2 HG02886.hp2 others(3): Show HG01169.hp1 HG02145.hp2 HG02886.hp2 HG03453.hp2 HG03490.hp1 HG03654.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0056 a0001c0001t0001g0160 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0005c0005t0001g0041	6	388	0.0155	23	c.159 others(40): Show c.1596+120_1596+121insGGGGAGCGTGGGGGGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767634	C C	CGCGTGGA others(16): Show CGCGTGGAGGGGGGAGCGTGGGGG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18946.hp2 NA18939.hp1 NA18946.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0305 a0001c0008t0001g0306 a0001c0008t0001g0305 a0001c0008t0001g0306	2	388	0.0052	23	c.159 others(40): Show c.1596+173_1596+174insGGGGAGCGTGGGGGGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189541	T T	TTATATAT others(16): Show TTATATATATAAAATCTTATTTTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20129.hp2 HG02717.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0018 a0001c0006t0009 a0001c0001t0018 a0001c0006t0009	a0001c0001t0018g0073 a0001c0006t0009g0079 a0001c0001t0018g0073 a0001c0006t0009g0079	2	330	0.0061	23	c.-5+ others(38): Show c.-5+3056_-5+3057insTAAAATAAGATTTTATATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(16): Show ATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA20300.hp2 NA19054.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0018 a0002c0002t0004 a0001c0001t0018 a0002c0002t0004	a0001c0001t0018g0088 a0002c0002t0004g0097 a0001c0001t0018g0088 a0002c0002t0004g0097	2	330	0.0061	23	c.-5+ others(38): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10113292	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	286	0.0035	23	c.142 others(42): Show c.142+58656_142+58657insTTTTTTTTTTTTTTTTTTTTTTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB3_chr12_65273683_65471907	65396704	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	312	0.0032	23	c.292 others(42): Show c.292+27680_292+27681insGAAAGAAAGAAAGAAAGAAAGAA	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	23	c.-10 others(34): Show c.-1006_-1005insTATATATATATATATATATATAT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	23	c.-10 others(34): Show c.-1006_-1005insTATATATATATATATATATATTT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18947.hp1 NA18949.hp1 others(2): Show HG02165.hp1 NA18947.hp1 NA18949.hp1 NA18955.hp1 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	5	398	0.0126	23	c.-10 others(34): Show c.-1006_-1005insTATATATATATATATATATTTTT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609244	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19074.hp1 NA19070.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	2	398	0.0050	23	c.-10 others(34): Show c.-1005_-1004insATATATATATATATATATATATA	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		973		chr1	TogoVar
MT4_chr16_56560073_56573957	56561683	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA18956.hp1 NA18969.hp2 others(3): Show HG02622.hp2 NA18956.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0118 a0002c0002t0001g0133 others(3): Show a0002c0002t0001g0009 a0002c0002t0001g0118 a0002c0002t0001g0133 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0164	6	428	0.0140	23	c.-34 others(34): Show c.-3446_-3445insTTTTTTTTTTTTTTTTTTTTTTT	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding		3389		chr16	TogoVar
MT4_chr16_56560073_56573957	56566769	G G	GGAAGGAA others(16): Show GGAAGGAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0111 a0002c0002t0001g0111	1	428	0.0023	23	c.32- others(36): Show c.32-979_32-978insGGAAGAAAGAAAGAAAGAAAGAA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar

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