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
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0028 a0001c0001t0046g0028	1	370	0.0027	34	c.104 others(53): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAAAATATA TATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02129.hp1 HG02132.hp2 HG00597.hp2 HG02129.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0043 a0001c0001t0001 a0001c0001t0020 a0001c0001t0043	a0001c0001t0001g0100 a0001c0001t0020g0074 a0001c0001t0043g0040 a0001c0001t0001g0100 a0001c0001t0020g0074 a0001c0001t0043g0040	3	370	0.0081	34	c.104 others(53): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAAAATATATA TATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18942.hp1 NA18960.hp2 HG03688.hp2 NA18942.hp1 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0015 a0001c0001t0001 a0003c0004t0015	a0001c0001t0001g0060 a0001c0001t0001g0092 a0003c0004t0015g0244 a0001c0001t0001g0060 a0001c0001t0001g0092 a0003c0004t0015g0244	3	370	0.0081	34	c.104 others(53): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAAAATATATATA TATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18939.hp2 NA19054.hp2 HG00558.hp2 NA18939.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0048 a0001c0002t0003 a0001c0001t0001 a0001c0001t0048 a0001c0002t0003	a0001c0001t0001g0073 a0001c0001t0048g0080 a0001c0002t0003g0220 a0001c0001t0001g0073 a0001c0001t0048g0080 a0001c0002t0003g0220	3	370	0.0081	34	c.104 others(53): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAAAATATATATATA TATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97697129	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18950.hp2 NA18945.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0084 a0001c0001t0009g0086 a0001c0001t0009g0084 a0001c0001t0009g0086	2	370	0.0054	34	c.104 others(53): Show c.1049-2624_1049-2623insAAAAAAAAAAAAAATAAAAATATATA TATATATA	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTFR1L_chr1_25814954_25837938	25819427	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0012 a0001c0003t0003g0012	1	402	0.0025	34	c.-68 others(43): Show c.-689_-688insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MTFR1L	ENSG00000117640.18	transcript	ENST00000374303.7	protein_coding		526		chr1	TogoVar
MTFR1L_chr1_25814954_25837938	25819429	T T	TGTGTGAG others(27): Show TGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	402	0.0025	34	c.-68 others(43): Show c.-687_-686insGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	MTFR1L	ENSG00000117640.18	transcript	ENST00000374303.7	protein_coding		524		chr1	TogoVar
MTFR1L_chr1_25814954_25837938	25819429	T T	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	402	0.0025	34	c.-68 others(43): Show c.-687_-686insGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	MTFR1L	ENSG00000117640.18	transcript	ENST00000374303.7	protein_coding		524		chr1	TogoVar
MTHFD1_chr14_64383353_64465025	64429261	A A	AACATATA others(27): Show AACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02559.hp2 others(4): Show HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02922.hp1 HG03041.hp2 HG06807.hp2 NA20129.hp1	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0009	a0001c0001 a0005c0005 a0006c0006 others(1): Show a0001c0001 a0005c0005 a0006c0006 a0009c0009	a0001c0001t0002 a0005c0005t0001 a0006c0006t0001 others(1): Show a0001c0001t0002 a0005c0005t0001 a0006c0006t0001 a0009c0009t0001	a0001c0001t0002g0224 a0005c0005t0001g0022 a0005c0005t0001g0023 others(4): Show a0001c0001t0002g0224 a0005c0005t0001g0022 a0005c0005t0001g0023 a0005c0005t0001g0029 a0005c0005t0001g0048 a0006c0006t0001g0229 a0009c0009t0001g0083	7	342	0.0205	34	c.126 others(51): Show c.1265-922_1265-921insCATATATATATATATATATATATATATA TATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD2L_chr4_74153118_74308099	74188682	A A	ATATATAT others(27): Show ATATATATGTGTGTATGCATATGTATATATATGGG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	200	0.0050	34	c.452 others(53): Show c.452-11105_452-11104insGTGTGTATGCATATGTATATATATGG GTATATAT	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2L_chr4_74153118_74308099	74188698	G G	GCATATGT others(27): Show GCATATGTATATATATGGGTATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(104): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18945.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18991.hp1 NA18994.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0024 others(103): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0178 a0001c0001t0001g0198 a0001c0001t0002g0056 a0001c0001t0002g0066 a0001c0001t0002g0105 a0001c0001t0002g0115 a0001c0001t0002g0131 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0003g0025 a0001c0001t0003g0083 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0101 a0001c0001t0003g0111 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0162 a0001c0001t0003g0199 a0001c0001t0006g0103 a0001c0001t0007g0055 a0001c0005t0001g0099 a0002c0002t0001g0076	107	200	0.5350	34	c.452 others(53): Show c.452-11069_452-11068insGTGTATACATATGTATATATATGGGT ATATATAT	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTHFD2L_chr4_74153118_74308099	74188742	A A	ATATATAT others(27): Show ATATATATGGGTATATATATATGTGTATACATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02572.hp1 others(15): Show HG01070.hp2 HG01071.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001	a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0002g0008 others(15): Show a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0003g0011 a0001c0001t0003g0185 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0004t0001g0012	18	200	0.0900	34	c.452 others(53): Show c.452-11045_452-11044insGGGTATATATATATGTGTATACATAT GTATATAT	MTHFD2L	ENSG00000163738.19	transcript	ENST00000325278.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTM1_chrX_150563621_150678143	150583353	A A	AAATATAT others(27): Show AAATATATATAAATTATATATATTATATATAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	277	0.0036	34	c.-10 others(51): Show c.-10-9224_-10-9191dupATAATATAATATATATAAATTATATATA TTATAT	MTM1	ENSG00000171100.16	transcript	ENST00000370396.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
MTMR12_chr5_32222007_32317939	32228607	T T	TATATATC others(27): Show TATATATCATATATATGTGATATATATATATATCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02055.hp1 others(1): Show HG01192.hp1 HG01891.hp1 HG02055.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0017 a0001c0001t0016g0096 a0001c0001t0016g0097 others(1): Show a0001c0001t0016g0017 a0001c0001t0016g0096 a0001c0001t0016g0097 a0001c0001t0016g0098	4	364	0.0110	34	c.11 others(45): Show c.1170_*1171insTGATATATATATATATCACATATATATGATATAT	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	16/16	1170		chr5	TogoVar
MTMR3_chr22_29878174_30035868	29896869	T T	TCACACAC others(27): Show TCACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0298 a0001c0001t0020g0298	1	334	0.0030	34	c.-13 others(55): Show c.-138+13511_-138+13544dupCACACACACACACACACACACACA CACACACACA	MTMR3	ENSG00000100330.16	transcript	ENST00000401950.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
MTMR7_chr8_17291794_17418351	17408395	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	360	0.0028	34	c.24+ others(49): Show c.24+4873_24+4874insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	MTMR7	ENSG00000003987.14	transcript	ENST00000180173.10	protein_coding	1/13			chr8	TogoVar
MTOR_chr1_11101535_11267551	11221706	A A	ATATATAT others(27): Show ATATATATATAGTGTATATATACATATATATATTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	256	0.0039	34	c.303 others(53): Show c.3031-5506_3031-5473dupGAATATATATATGTATATATACACTA TATATATA	MTOR	ENSG00000198793.14	transcript	ENST00000361445.9	protein_coding	19/57			chr1	TogoVar
MTPN_chr7_135921760_135982359	135941380	A A	ACAATGGG others(27): Show ACAATGGGGAATGTCATATGCATTCCCCATTGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(116): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01175.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01943.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02698.hp2 HG02723.hp2 HG02818.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp2 HG03654.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0002t0010	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(85): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0016g0177 a0001c0001t0018g0102 a0001c0001t0022g0311 a0001c0001t0026g0318 a0001c0001t0027g0319 a0001c0002t0010g0184 a0001c0002t0010g0185 a0001c0002t0010g0186	119	386	0.3083	34	c.270 others(51): Show c.270+9218_270+9219insCAACAATGGGGAATGCATATGACATTCC CCATTG	MTPN	ENSG00000105887.11	transcript	ENST00000393085.4	protein_coding	3/3			chr7	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(27): Show CCACACACATGCGCGCGCGCGCACGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0106 a0002c0003t0005g0109 a0002c0003t0005g0106 a0002c0003t0005g0109	2	372	0.0054	34	c.371 others(51): Show c.3711+190_3711+191insTGCGCGCGCGCGCACGCGCGCGCACACA CACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(27): Show CCACACACATGCGCGCGCGCGCGCGCGCACACACA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0025 a0002c0003t0015g0025	1	372	0.0027	34	c.371 others(51): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCACACACACA CACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(27): Show CCACACACATGCGCGCGCGCGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	1	372	0.0027	34	c.371 others(51): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCACACACA CACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(27): Show CCACACACATGCGCGCGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0049 a0002c0003t0003g0049	1	372	0.0027	34	c.371 others(51): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCGCACACA CACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897300	C C	CCACACAC others(27): Show CCACACACATGCGCGCGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0044 a0002c0003t0003g0044	1	372	0.0027	34	c.371 others(51): Show c.3711+190_3711+191insTGCGCGCGCGCGCGCGCGCGCGCGCGCA CACACA	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr1	TogoVar
MTR_chr1_236790292_236908981	236897308	A A	ATGCGCGC others(27): Show ATGCGCGCGCGCGCATGCGCGCGCGCGCACGCGCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0082 a0002c0003t0007g0082	1	372	0.0027	34	c.371 others(51): Show c.3711+190_3711+191insTGCGCGCGCGCGCATGCGCGCGCGCGCA CGCGCG	MTR	ENSG00000116984.15	transcript	ENST00000366577.10	protein_coding	32/32			chr1	TogoVar
MTSS1_chr8_124545784_124733473	124602188	C C	CATATATA others(27): Show CATATATATATATATATATACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02280.hp1 HG02630.hp1 others(6): Show HG01099.hp2 HG02280.hp1 HG02630.hp1 HG02717.hp2 HG02965.hp1 HG03139.hp2 HG03471.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0003t0001 a0002c0002t0007 others(1): Show a0001c0001t0002 a0001c0003t0001 a0002c0002t0007 a0002c0005t0003	a0001c0001t0002g0013 a0001c0003t0001g0011 a0001c0003t0001g0016 others(6): Show a0001c0001t0002g0013 a0001c0003t0001g0011 a0001c0003t0001g0016 a0001c0003t0001g0068 a0001c0003t0001g0156 a0002c0002t0007g0165 a0002c0002t0007g0171 a0002c0002t0007g0261 a0002c0005t0003g0169	9	286	0.0315	34	c.209 others(53): Show c.209-10954_209-10953insATATATATGTGTGTGTATATATATAT ATATATAT	MTSS1	ENSG00000170873.19	transcript	ENST00000518547.6	protein_coding	3/13			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588984	T T	TATGTTCA others(27): Show TATGTTCATATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02965.hp1 others(3): Show HG01884.hp1 HG02615.hp1 HG02965.hp1 HG03041.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0113 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0303	6	364	0.0165	34	c.394 others(49): Show c.394-657_394-656insGTTCATATATATATGTTCATATATATATGT TCAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTURN_chr7_30129986_30167762	30140415	G G	GTGTGTGT others(27): Show GTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03098.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0024 a0001c0001t0017 a0001c0001t0024	a0001c0001t0017g0266 a0001c0001t0024g0256 a0001c0001t0024g0257 a0001c0001t0017g0266 a0001c0001t0024g0256 a0001c0001t0024g0257	3	426	0.0070	34	c.162 others(51): Show c.162+5118_162+5119insGTGTGTATATATATATATATATATATAT ATATAT	MTURN	ENSG00000180354.16	transcript	ENST00000324453.13	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
MTURN_chr7_30129986_30167762	30140415	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	426	0.0024	34	c.162 others(51): Show c.162+5118_162+5119insGTGTGTGTATATATATATATATATATAT ATATAT	MTURN	ENSG00000180354.16	transcript	ENST00000324453.13	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
MTUS1_chr8_17638802_17806094	17641896	T T	TCCCCGCC others(27): Show TCCCCGCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0006 a0001c0025t0006	a0001c0025t0006g0196 a0001c0025t0006g0196	1	330	0.0030	34	c.40 others(45): Show c.4029_*4030insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding		1905		chr8	TogoVar
MTUS1_chr8_17638802_17806094	17641896	T T	TCCCCGCC others(27): Show TCCCCGCCCGCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0020 a0001c0025t0020	a0001c0025t0020g0244 a0001c0025t0020g0244	1	330	0.0030	34	c.40 others(45): Show c.4029_*4030insGGGGGGGGGGGGGGGGGGGGGGGGGCGGGCGGGG	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding		1905		chr8	TogoVar
MTUS1_chr8_17638802_17806094	17767700	T T	TAAGAAAA others(27): Show TAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA20300.hp1 HG02630.hp1 NA20300.hp1	a0006 a0006	a0006c0019 a0006c0089 a0006c0019 a0006c0089	a0006c0019t0002 a0006c0089t0006 a0006c0019t0002 a0006c0089t0006	a0006c0019t0002g0185 a0006c0089t0006g0186 a0006c0019t0002g0185 a0006c0089t0006g0186	2	330	0.0061	34	c.-15 others(55): Show c.-154-11740_-154-11739insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTCTT	MTUS1	ENSG00000129422.15	transcript	ENST00000693296.1	protein_coding	1/14			chr8	TogoVar
MTUS2_chr13_28815339_29510947	29350960	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	92	0.0109	34	c.290 others(53): Show c.2906-8278_2906-8277insATATATATATATATATATATATATAT ATATATAT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29383244	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0017 a0004c0020t0001g0017	1	92	0.0109	34	c.311 others(55): Show c.3117+23772_3117+23773insATATATATATATATATATATATAT ATATTTATTT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MTUS2_chr13_28815339_29510947	29383250	G G	GTATATAT others(27): Show GTATATATATATATATATATATATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20300.hp1 NA19043.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0004 a0003c0009t0029 a0002c0002t0004 a0003c0009t0029	a0002c0002t0004g0058 a0003c0009t0029g0005 a0002c0002t0004g0058 a0003c0009t0029g0005	2	92	0.0217	34	c.311 others(55): Show c.3117+23778_3117+23779insATATATATATATATATATATATTT ATTTATTTAT	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC4_chr3_195741771_195816929	195816500	C C	CTTCTCCT others(27): Show CTTCTCCTTACGCAGGTGCCACATCCTCCTGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG03540.hp2 HG01884.hp2 HG02615.hp1 HG03540.hp2	a0079 a0082 a0083 a0079 a0082 a0083	a0079c0192 a0082c0191 a0083c0190 a0079c0192 a0082c0191 a0083c0190	a0079c0192t0004 a0082c0191t0005 a0083c0190t0004 a0079c0192t0004 a0082c0191t0005 a0083c0190t0004	a0079c0192t0004g0242 a0082c0191t0005g0244 a0083c0190t0004g0241 a0079c0192t0004g0242 a0082c0191t0005g0244 a0083c0190t0004g0241	3	249	0.0121	34	c.-46 others(45): Show c.-4684_-4683insCGGGCAGGAGGATGTGGCACCTGCGTAAGGAGAA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4572		chr3	TogoVar
MUC4_chr3_195741771_195816929	195816644	C C	CTTCTCCT others(27): Show CTTCTCCTTACGCAGGTGCCACATCCTCCTGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(7): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG03098.hp1 HG03540.hp1 HG03579.hp2 NA18959.hp1	a0026 a0049 a0097 others(7): Show a0026 a0049 a0097 a0110 a0118 a0175 a0178 a0179 a0180 a0181	a0026c0009 a0049c0145 a0097c0129 others(7): Show a0026c0009 a0049c0145 a0097c0129 a0110c0044 a0118c0112 a0175c0031 a0178c0034 a0179c0032 a0180c0033 a0181c0036	a0026c0009t0002 a0049c0145t0008 a0097c0129t0002 others(7): Show a0026c0009t0002 a0049c0145t0008 a0097c0129t0002 a0110c0044t0001 a0118c0112t0001 a0175c0031t0001 a0178c0034t0002 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0026c0009t0002g0192 a0049c0145t0008g0055 a0097c0129t0002g0188 others(7): Show a0026c0009t0002g0192 a0049c0145t0008g0055 a0097c0129t0002g0188 a0110c0044t0001g0083 a0118c0112t0001g0109 a0175c0031t0001g0190 a0178c0034t0002g0194 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	10	249	0.0402	34	c.-48 others(45): Show c.-4828_-4827insCGGGCAGGAGGATGTGGCACCTGCGTAAGGAGAA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding		4716		chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1166590	C C	CTCCCACG others(27): Show CTCCCACGATGAGACCCTGCACCCAACACACAGTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0002 a0027c0039t0002	a0027c0039t0002g0047 a0027c0039t0002g0047	1	292	0.0034	34	c.138 others(51): Show c.1386+832_1386+833insCCACGATGAGACCCTGCACCCAACACAC AGTTTC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUSK_chr9_110663791_110811558	110690128	G G	GTATAAAT others(27): Show GTATAAATATATAAATATATATTTAAGTATAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp1 others(38): Show HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01433.hp2 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02735.hp2 HG02895.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18970.hp1 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA19060.hp1 NA19087.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0002c0004 a0004c0007 others(3): Show a0001c0001 a0002c0004 a0004c0007 a0005c0005 a0005c0013 a0009c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0022 a0002c0004t0005 a0004c0007t0004 a0005c0005t0008 a0005c0013t0008 a0009c0025t0004	a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 others(38): Show a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0002g0024 a0001c0001t0002g0030 a0001c0001t0002g0188 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0052 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0187 a0001c0001t0003g0253 a0001c0001t0004g0021 a0001c0001t0009g0027 a0001c0001t0010g0029 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0016g0185 a0001c0001t0016g0186 a0001c0001t0022g0060 a0001c0001t0022g0124 a0002c0004t0005g0121 a0004c0007t0004g0031 a0004c0007t0004g0051 a0005c0005t0008g0117 a0005c0005t0008g0118 a0005c0013t0008g0119 a0005c0013t0008g0120 a0009c0025t0004g0092	41	326	0.1258	34	c.358 others(51): Show c.358+2870_358+2871insTAAATATATATTTAAGTATAAATATATA AATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690139	G G	GAAATATA others(27): Show GAAATATATATTTAAGTATAAATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00597.hp2 others(54): Show HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02622.hp1 HG02698.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18990.hp1 NA19004.hp1 NA19010.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19088.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0001c0016 a0002c0012 a0003c0003 a0004c0006 a0005c0005 a0007c0011	a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 others(17): Show a0001c0001t0030 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0014t0002 a0001c0016t0025 a0002c0012t0018 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0014 a0004c0006t0001 a0004c0006t0004 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0005c0005t0004 a0005c0005t0008 a0007c0011t0019	a0001c0001t0030g0091 a0001c0002t0001g0099 a0001c0002t0001g0122 others(53): Show a0001c0001t0030g0091 a0001c0002t0001g0099 a0001c0002t0001g0122 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0104 a0001c0002t0003g0048 a0001c0002t0003g0050 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0106 a0001c0002t0003g0125 a0001c0014t0002g0103 a0001c0016t0025g0181 a0002c0012t0018g0043 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0183 a0003c0003t0002g0084 a0003c0003t0003g0001 a0003c0003t0004g0077 a0003c0003t0004g0083 a0003c0003t0004g0085 a0003c0003t0004g0086 a0003c0003t0004g0087 a0003c0003t0004g0090 a0003c0003t0004g0182 a0003c0003t0004g0298 a0003c0003t0014g0078 a0004c0006t0001g0107 a0004c0006t0004g0062 a0004c0006t0004g0095 a0004c0006t0004g0100 a0004c0006t0004g0105 a0004c0006t0004g0123 a0005c0005t0001g0088 a0005c0005t0002g0061 a0005c0005t0002g0063 a0005c0005t0002g0064 a0005c0005t0002g0066 a0005c0005t0002g0070 a0005c0005t0002g0071 a0005c0005t0002g0072 a0005c0005t0002g0115 a0005c0005t0003g0068 a0005c0005t0003g0089 a0005c0005t0004g0006 a0005c0005t0004g0128 a0005c0005t0008g0184 a0007c0011t0019g0126 a0007c0011t0019g0127	57	326	0.1749	34	c.358 others(51): Show c.358+2891_358+2924dupAATATATAAATATATAAATATATATTTA AGTATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110694651	G G	GAAATTAA others(27): Show GAAATTAAATGAACTAAAATATAACATACTAAAGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	326	0.0031	34	c.359 others(49): Show c.359-752_359-751insAAATTAAATGAACTAAAATATAACATACTA AAGA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14			chr9	TogoVar
MUSTN1_chr3_52828121_52840019	52832637	G G	GAGGGAGA others(27): Show GAGGGAGAGGGGTTTTGAGGTCCCTAGTGCAGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01891.hp1 others(4): Show HG01074.hp1 HG01243.hp2 HG01891.hp1 HG02280.hp1 HG03139.hp1 HG03195.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0006 a0001c0001t0002g0047 a0002c0002t0002g0011 a0001c0001t0002g0006 a0001c0001t0002g0047 a0002c0002t0002g0011	7	388	0.0180	34	c.68 others(43): Show c.686_*687insGCACTGCACTAGGGACCTCAAAACCCCTCTCCCT	MUSTN1	ENSG00000272573.6	transcript	ENST00000446157.3	protein_coding		483		chr3	TogoVar
MVK_chr12_109568794_109603125	109600916	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01255.hp2 HG03654.hp2 others(3): Show HG00099.hp2 HG01255.hp2 HG03654.hp2 NA18986.hp2 NA19082.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0017 a0001c0002t0002 a0001c0002t0017	a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0032 others(3): Show a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0071 a0001c0002t0017g0007	6	382	0.0157	34	c.43 others(45): Show c.4339_*4340insACACACACACACACACACACACACACACACACAC	MVK	ENSG00000110921.14	transcript	ENST00000228510.8	protein_coding		2792		chr12	TogoVar
MXI1_chr10_110202605_110292365	110216665	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	372	0.0027	34	c.274 others(51): Show c.274+8603_274+8604insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	MXI1	ENSG00000119950.21	transcript	ENST00000332674.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
MXRA5_chrX_3303565_3351652	3326127	A A	ATATATAT others(27): Show ATATATATTTATACATAAATACATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0135 a0005c0005t0002g0135	1	284	0.0035	34	c.710 others(51): Show c.710-1153_710-1152insAATATATATAAATGTATTTATGTATAAA TATATA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYBPC1_chr12_101589971_101691028	101687208	T T	TGCTATCC others(27): Show TGCTATCCCTCCCCGCTCCCCCCACCCCACAACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0015 a0001c0004t0005g0015	1	360	0.0028	34	c.16 others(45): Show c.1646_*1647insGCTATCCCTCCCCGCTCCCCCCACCCCACAACAG	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		1181		chr12	TogoVar
MYBPC1_chr12_101589971_101691028	101688636	T T	TGTAATGG others(27): Show TGTAATGGATTTAGCTTGCAACTTGATAAATAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00621.hp1 others(10): Show HG00280.hp2 HG00609.hp2 HG00621.hp1 HG02602.hp2 HG02735.hp2 NA18943.hp1 NA18948.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18979.hp1 NA19070.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0002 a0001c0003t0004 a0001c0004t0006 a0001c0008t0002 a0002c0002t0002 a0002c0002t0006	a0001c0001t0001g0289 a0001c0001t0003g0263 a0001c0001t0007g0115 others(10): Show a0001c0001t0001g0289 a0001c0001t0003g0263 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0003t0002g0033 a0001c0003t0004g0141 a0001c0003t0004g0149 a0001c0004t0006g0159 a0001c0008t0002g0112 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0006g0088 a0002c0002t0006g0331	13	360	0.0361	34	c.30 others(45): Show c.3074_*3075insGTAATGGATTTAGCTTGCAACTTGATAAATAAAG	MYBPC1	ENSG00000196091.15	transcript	ENST00000361466.7	protein_coding		2609		chr12	TogoVar
MYBPC3_chr11_47326406_47357702	47348908	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01516.hp2 HG01943.hp1 others(13): Show HG00735.hp1 HG01516.hp2 HG01943.hp1 HG02735.hp2 HG03041.hp1 HG03579.hp2 HG04199.hp1 HG04228.hp1 NA18942.hp1 NA18947.hp2 NA18964.hp1 NA18977.hp2 NA18980.hp1 NA19003.hp2 NA19011.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0010t0002	a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0158 others(12): Show a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0158 a0001c0002t0001g0037 a0001c0002t0001g0070 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0286 a0001c0002t0007g0243 a0001c0010t0002g0275	16	374	0.0428	34	c.655 others(49): Show c.655-368_655-367insTATATATATATATATATATATATATATATA TATA	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding	5/34			chr11	TogoVar
MYBPC3_chr11_47326406_47357702	47348926	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0074 a0001c0013t0001g0074	1	374	0.0027	34	c.655 others(49): Show c.655-386_655-385insAATATATATATATATATATATATATATATA TATA	MYBPC3	ENSG00000134571.12	transcript	ENST00000545968.6	protein_coding	5/34			chr11	TogoVar
MYCBP2_chr13_77039657_77332094	77294129	T T	TATATACA others(27): Show TATATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	334	0.0030	34	c.378 others(51): Show c.378+2469_378+2470insGTATATATATATATATATATATATATAT GTATAT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77294129	T T	TATATATA others(27): Show TATATATACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp2 HG03492.hp2 others(3): Show HG01106.hp1 HG01516.hp2 HG03492.hp2 HG03688.hp2 HG04199.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 others(3): Show a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0300	6	334	0.0180	34	c.378 others(51): Show c.378+2469_378+2470insGTATATATATATATATATATATATATGT ATATAT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	2/82			chr13	TogoVar

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