Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAPRE2_chr18_35036413_35148470	35064000	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp2 HG01071.hp1 others(10): Show HG00423.hp1 HG01069.hp2 HG01071.hp1 HG01361.hp2 NA18948.hp2 NA18968.hp1 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0276 others(10): Show a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0316 a0001c0001t0016g0277	13	370	0.0351	13	c.123 others(30): Show c.123-6174_123-6162dupAAAAAAAAAAAAA	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPRE2_chr18_35036413_35148470	35082289	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp1 HG02486.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0233 a0001c0001t0007g0251 a0001c0001t0002g0233 a0001c0001t0007g0251	2	370	0.0054	13	c.250 others(32): Show c.250+11978_250+11990dupAAAAAAAAAAAAA	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPRE2_chr18_35036413_35148470	35140112	G G	GTGATCAT others(6): Show GTGATCATTACATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0133 a0002c0003t0001g0133	1	370	0.0027	13	c.910 others(28): Show c.910-183_910-182insTGATCATTACATA	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	6/6			chr18	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp2 HG02717.hp2 HG03195.hp2	a0007 a0009 a0007 a0009	a0007c0008 a0009c0011 a0007c0008 a0009c0011	a0007c0008t0014 a0009c0011t0002 a0007c0008t0014 a0009c0011t0002	a0007c0008t0014g0026 a0009c0011t0002g0030 a0007c0008t0014g0026 a0009c0011t0002g0030	2	253	0.0079	13	c.-17 others(32): Show c.-17-15705_-17-15704insAAAAAAATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	46014882	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03239.hp1 HG02602.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0012 a0003c0004t0004g0013 a0003c0004t0004g0012 a0003c0004t0004g0013	2	253	0.0079	13	c.217 others(30): Show c.2173+569_2173+570insAAAAAAAAAAAAA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	46017440	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02109.hp1 HG02965.hp1 HG01071.hp2 HG02109.hp1 HG02965.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0010 a0003c0004 a0012c0016 a0001c0010 a0003c0004 a0012c0016	a0001c0010t0013 a0003c0004t0004 a0012c0016t0002 a0001c0010t0013 a0003c0004t0004 a0012c0016t0002	a0001c0010t0013g0208 a0003c0004t0004g0017 a0012c0016t0002g0111 a0001c0010t0013g0208 a0003c0004t0004g0017 a0012c0016t0002g0111	3	253	0.0119	13	c.217 others(32): Show c.2174-1160_2174-1148dupTTTTTTTTTTTTT	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA21309.hp1 NA19043.hp2 NA21309.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0010 a0003c0005t0002 a0003c0005t0010	a0003c0005t0002g0243 a0003c0005t0010g0014 a0003c0005t0002g0243 a0003c0005t0010g0014	2	280	0.0071	13	c.210 others(30): Show c.2105-975_2105-963dupAAAAAAAAAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF11_chr5_16062139_16184791	16085939	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	298	0.0034	13	c.886 others(30): Show c.886+4937_886+4949dupTTTTTTTTTTTTT	MARCHF11	ENSG00000183654.9	transcript	ENST00000332432.9	protein_coding	3/3			chr5	TogoVar
MARCHF1_chr4_163519718_164389019	163986249	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02080.hp2 HG02165.hp1 others(8): Show HG00639.hp2 HG02080.hp2 HG02165.hp1 HG03139.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA18984.hp1 NA19030.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0003 others(1): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0008t0012 a0002c0003t0001 a0002c0004t0002	a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0004g0100 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0004g0100 a0001c0001t0006g0087 a0001c0001t0008g0084 a0001c0001t0013g0018 a0001c0001t0018g0079 a0001c0001t0020g0070 a0001c0008t0012g0026 a0002c0003t0001g0055 a0002c0004t0002g0065	11	102	0.1078	13	c.-39 others(30): Show c.-39+2239_-39+2251dupAAAAAAAAAAAAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164050275	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0067 a0001c0001t0019g0067	1	102	0.0098	13	c.-24 others(34): Show c.-248+61300_-248+61312dupTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	2/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164081207	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	102	0.0098	13	c.-24 others(34): Show c.-248+30368_-248+30380dupTTTTTTTTTTTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	2/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164274659	C C	CTTCTTTT others(6): Show CTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	102	0.0098	13	c.-32 others(36): Show c.-323+109210_-323+109211insAAAAAAAAAAGAA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF2_chr19_8408305_8444017	8415721	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG00408.hp1 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0009 a0002c0002t0003 a0002c0002t0009	a0002c0002t0003g0009 a0002c0002t0009g0010 a0002c0002t0003g0009 a0002c0002t0009g0010	2	392	0.0051	13	c.-53 others(30): Show c.-53+2302_-53+2314dupAAAAAAAAAAAAA	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARCHF2_chr19_8408305_8444017	8428649	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0334 a0001c0001t0009g0334	1	392	0.0026	13	c.372 others(30): Show c.372+1867_372+1879dupAAAAAAAAAAAAA	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARCHF2_chr19_8408305_8444017	8441431	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0184 a0001c0001t0014g0184	1	392	0.0026	13	c.28 others(24): Show c.2885_*2886insCTCTCTCTCTCTC	MARCHF2	ENSG00000099785.11	transcript	ENST00000215555.7	protein_coding		2415		chr19	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02148.hp2 HG02280.hp2 others(5): Show HG02080.hp1 HG02148.hp2 HG02280.hp2 HG02572.hp1 NA18945.hp2 NA18960.hp1 NA19066.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0070 a0001c0001t0090	a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0002g0220 others(5): Show a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0002g0220 a0001c0001t0004g0063 a0001c0001t0007g0105 a0001c0001t0010g0007 a0001c0001t0070g0230 a0001c0001t0090g0231	8	296	0.0270	13	c.37 others(24): Show c.3752_*3753insTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126869582	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0285 a0001c0001t0101g0285	1	296	0.0034	13	c.10 others(24): Show c.1038_*1050dupAAAAAAAAAAAAA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	5/5	1050		chr5	TogoVar
MARCHF3_chr5_126862714_127035558	126966905	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG04204.hp2 NA18941.hp2 others(2): Show HG02015.hp1 HG04204.hp2 NA18941.hp2 NA19002.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0118 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0003g0038	5	296	0.0169	13	c.-56 others(32): Show c.-56-48691_-56-48679dupAAAAAAAAAAAAA	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding	1/4			chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216336742	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0321 a0001c0001t0051g0321	1	330	0.0030	13	c.516 others(32): Show c.516+32990_516+33002dupTTTTTTTTTTTTT	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF5_chr10_92286167_92358964	92289718	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01106.hp2 HG01109.hp2 others(13): Show HG00140.hp1 HG01106.hp2 HG01109.hp2 HG01891.hp1 HG02257.hp1 HG02647.hp1 HG02895.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp2 HG03942.hp1 NA18939.hp1 NA18942.hp2 NA18997.hp2 NA19070.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0025 a0001c0001t0037 a0001c0001t0038	a0001c0001t0002g0139 a0001c0001t0003g0094 a0001c0001t0003g0166 others(13): Show a0001c0001t0002g0139 a0001c0001t0003g0094 a0001c0001t0003g0166 a0001c0001t0003g0173 a0001c0001t0007g0103 a0001c0001t0007g0105 a0001c0001t0007g0114 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0138 a0001c0001t0009g0003 a0001c0001t0013g0082 a0001c0001t0013g0085 a0001c0001t0025g0091 a0001c0001t0037g0056 a0001c0001t0038g0057	16	306	0.0523	13	c.-17 others(24): Show c.-1777_-1776insAAAAAAAAAAAAA	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1448		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92289732	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	306	0.0033	13	c.-17 others(24): Show c.-1763_-1762insAAAAAAAAAAAAT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1434		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92289732	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0069 a0001c0001t0018g0069	1	306	0.0033	13	c.-17 others(24): Show c.-1763_-1762insAAAAAAAAAATAT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1434		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92289732	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0032 a0001c0001t0014g0032	1	306	0.0033	13	c.-17 others(24): Show c.-1763_-1762insAAAAAAAATATAT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding		1434		chr10	TogoVar
MARCHF5_chr10_92286167_92358964	92328821	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0004	1	306	0.0033	13	c.239 others(32): Show c.239-11851_239-11850insATATATATATATT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
MARCHF7_chr2_159707506_159776027	159764212	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18943.hp1 HG03579.hp1 NA18943.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0003 a0001c0003t0003 a0001c0004t0003	a0001c0003t0003g0076 a0001c0004t0003g0052 a0001c0003t0003g0076 a0001c0004t0003g0052	2	364	0.0055	13	c.200 others(30): Show c.2008-414_2008-413insGTGTGTGTGTGTG	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding	10/11			chr2	TogoVar
MARCHF7_chr2_159707506_159776027	159776012	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(55): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02080.hp1 HG02083.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02698.hp1 HG02809.hp2 HG03453.hp2 HG03654.hp1 HG04199.hp2 HG04204.hp2 NA18944.hp2 NA18960.hp2 NA18961.hp1 NA18973.hp1 NA18977.hp1 NA18986.hp2 NA18990.hp1 NA18999.hp2 NA19003.hp2 NA19005.hp1 NA19055.hp2 NA19060.hp2 NA19064.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0004c0007 a0006c0009	a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 others(11): Show a0001c0001t0015 a0001c0002t0001 a0001c0002t0007 a0001c0002t0019 a0001c0002t0034 a0001c0004t0003 a0002c0005t0003 a0002c0005t0009 a0002c0005t0017 a0002c0005t0025 a0002c0005t0026 a0004c0007t0011 a0006c0009t0009 a0006c0009t0036	a0001c0001t0015g0278 a0001c0002t0001g0001 a0001c0002t0001g0004 others(50): Show a0001c0001t0015g0278 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0103 a0001c0002t0001g0126 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0007g0002 a0001c0002t0007g0108 a0001c0002t0019g0152 a0001c0002t0034g0099 a0001c0004t0003g0065 a0002c0005t0003g0044 a0002c0005t0003g0045 a0002c0005t0003g0055 a0002c0005t0003g0057 a0002c0005t0003g0061 a0002c0005t0003g0067 a0002c0005t0003g0069 a0002c0005t0003g0071 a0002c0005t0003g0072 a0002c0005t0003g0073 a0002c0005t0003g0074 a0002c0005t0003g0075 a0002c0005t0009g0089 a0002c0005t0017g0070 a0002c0005t0025g0051 a0002c0005t0026g0056 a0004c0007t0011g0013 a0004c0007t0011g0171 a0004c0007t0011g0172 a0004c0007t0011g0173 a0004c0007t0011g0174 a0006c0009t0009g0040 a0006c0009t0036g0039	58	364	0.1593	13	c.86 others(24): Show c.8670_*8671insTTTTTTTTTTTTT	MARCHF7	ENSG00000136536.15	transcript	ENST00000409175.6	protein_coding		4986		chr2	TogoVar
MARCO_chr2_118937194_118999660	118986672	G G	GAGAAAGA others(6): Show GAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	394	0.0025	13	c.106 others(32): Show c.1064-3917_1064-3916insAGAAAGAAAGAAA	MARCO	ENSG00000019169.11	transcript	ENST00000327097.5	protein_coding	12/16			chr2	TogoVar
MARF1_chr16_15589387_15648154	15591629	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03209.hp2 NA18906.hp2 HG02976.hp1 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0113 a0001c0001t0001g0149 a0001c0001t0007g0020 a0001c0001t0001g0113 a0001c0001t0001g0149 a0001c0001t0007g0020	3	393	0.0076	13	c.50 others(24): Show c.5063_*5064insGTGTGTGTGTGTG	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding		2757		chr16	TogoVar
MARF1_chr16_15589387_15648154	15613684	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA20805.hp1 HG02738.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	393	0.0051	13	c.325 others(30): Show c.3254-908_3254-907insTATTTATTTATTT	MARF1	ENSG00000166783.22	transcript	ENST00000396368.8	protein_coding	16/26			chr16	TogoVar
MARK2_chr11_63834110_63916020	63913491	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00438.hp2 others(67): Show HG00140.hp1 HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01934.hp1 HG02004.hp2 HG02015.hp1 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02735.hp2 HG02886.hp2 HG02970.hp1 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18943.hp1 NA18952.hp2 NA18957.hp1 NA18964.hp1 NA18970.hp2 NA18995.hp2 NA19007.hp2 NA19063.hp1 NA19064.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0034 a0001c0001t0002g0151 a0001c0001t0002g0152 others(64): Show a0001c0001t0001g0034 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0003g0001 a0001c0001t0003g0170 a0001c0001t0003g0175 a0001c0001t0003g0182 a0001c0001t0003g0187 a0001c0001t0003g0207 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0223 a0001c0001t0010g0164 a0001c0001t0010g0166 a0001c0001t0010g0168 a0001c0001t0011g0178 a0001c0001t0011g0194 a0001c0001t0011g0203 a0001c0001t0012g0191 a0001c0001t0015g0196 a0001c0001t0023g0204 a0001c0001t0024g0192	70	232	0.3017	13	c.42 others(24): Show c.4254_*4255insTTTTTTTTTTTTT	MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding		2472		chr11	TogoVar
MARK3_chr14_103380415_103508831	103389528	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG02135.hp1 others(4): Show HG00408.hp1 HG00673.hp1 HG02135.hp1 HG02523.hp2 HG03239.hp2 NA18979.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0227 others(4): Show a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231	7	348	0.0201	13	c.51+ others(28): Show c.51+3456_51+3468dupAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103399309	C C	CTTATTGC others(6): Show CTTATTGCTTTGAG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	348	0.0029	13	c.52- others(28): Show c.52-5764_52-5752dupATTGCTTTGAGTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103423200	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00597.hp2 others(47): Show HG00323.hp1 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01169.hp1 HG01255.hp1 HG01261.hp1 HG01891.hp2 HG01928.hp2 HG02004.hp1 HG02109.hp2 HG02165.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18947.hp1 NA18970.hp1 NA18994.hp1 NA19000.hp2 NA19012.hp1 NA19043.hp2 NA19066.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0005c0007 a0009c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0004t0004 a0002c0002t0001 a0005c0007t0001 a0009c0012t0001	a0001c0001t0001g0099 a0001c0001t0001g0214 a0001c0001t0001g0222 others(47): Show a0001c0001t0001g0099 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0004g0084 a0001c0001t0004g0088 a0001c0001t0004g0090 a0001c0001t0011g0020 a0001c0004t0004g0086 a0001c0004t0004g0087 a0001c0004t0004g0089 a0002c0002t0001g0205 a0002c0002t0001g0327 a0005c0007t0001g0344 a0009c0012t0001g0097	50	348	0.1437	13	c.244 others(30): Show c.244-5185_244-5173dupTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103460073	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02083.hp2 HG02735.hp1 others(2): Show HG02015.hp2 HG02083.hp2 HG02735.hp1 HG02738.hp1 NA19009.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0066 a0004c0006t0001g0003	5	348	0.0144	13	c.484 others(30): Show c.484-2313_484-2301dupTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103467674	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01346.hp2 HG01891.hp2 others(13): Show HG00733.hp1 HG01346.hp2 HG01891.hp2 HG01978.hp1 HG03130.hp1 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03927.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18970.hp1 NA18994.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0001 a0001c0001t0003 a0006c0013t0001 a0001c0001t0001 a0001c0001t0003 a0006c0013t0001	a0001c0001t0001g0007 a0001c0001t0001g0259 a0001c0001t0001g0268 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0259 a0001c0001t0001g0268 a0001c0001t0001g0288 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0323 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0003g0037 a0006c0013t0001g0217	16	348	0.0460	13	c.111 others(30): Show c.1111-348_1111-336dupAAAAAAAAAAAAA	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103470455	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00597.hp2 others(84): Show HG00323.hp1 HG00408.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02074.hp1 HG02135.hp1 HG02155.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18953.hp2 NA18964.hp2 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0014 a0005c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0005t0001 a0002c0002t0001 a0003c0014t0001 a0005c0007t0001	a0001c0001t0001g0032 a0001c0001t0001g0215 a0001c0001t0001g0216 others(84): Show a0001c0001t0001g0032 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0008g0291 a0001c0001t0008g0292 a0001c0001t0009g0145 a0001c0001t0010g0290 a0001c0001t0011g0020 a0001c0005t0001g0261 a0002c0002t0001g0327 a0003c0014t0001g0272 a0005c0007t0001g0344	87	348	0.2500	13	c.126 others(32): Show c.1264+2274_1264+2286dupTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK3_chr14_103380415_103508831	103481757	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19000.hp1 NA18983.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0210 a0001c0001t0001g0211	2	348	0.0058	13	c.158 others(32): Show c.1586+1282_1586+1294dupTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARK4_chr19_45246271_45310284	45300344	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02074.hp2 NA18747.hp1 HG00280.hp1 HG02074.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0180 a0001c0001t0002g0218 a0001c0001t0017g0229 a0001c0001t0002g0180 a0001c0001t0002g0218 a0001c0001t0017g0229	3	260	0.0115	13	c.192 others(30): Show c.1922+503_1922+515dupAAAAAAAAAAAAA	MARK4	ENSG00000007047.16	transcript	ENST00000262891.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
MARS1_chr12_57483068_57521652	57493600	A A	ATATTATA others(6): Show ATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	288	0.0035	13	c.770 others(30): Show c.770+2958_770+2959insTTATATATAATTA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57493872	A A	ATATATAT others(6): Show ATATATATTTATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	288	0.0035	13	c.770 others(30): Show c.770+3234_770+3235insTTTATATTATATA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARS1_chr12_57483068_57521652	57508699	A A	AGGTAGAG others(6): Show AGGTAGAGGTAGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp1 HG02615.hp2 others(7): Show HG00639.hp2 HG02257.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp1 HG03490.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0151 a0001c0001t0001g0196 others(7): Show a0001c0001t0001g0069 a0001c0001t0001g0151 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208	10	288	0.0347	13	c.136 others(32): Show c.1369-2991_1369-2990insTAGAGGGTAGAGG	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MARVELD2_chr5_69410116_69449330	69444009	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(66): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00621.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01346.hp1 HG01496.hp2 HG01934.hp2 HG01978.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp1 HG02572.hp2 HG02698.hp1 HG02809.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03704.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18963.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp1 NA18978.hp1 NA18987.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19030.hp2 NA19058.hp2 NA19059.hp1 NA19066.hp2 NA19070.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0006c0004	a0001c0001t0001 a0001c0001t0019 a0001c0001t0030 others(5): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0030 a0001c0001t0040 a0001c0001t0042 a0002c0002t0038 a0004c0005t0001 a0006c0004t0046	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0157 a0001c0001t0019g0006 a0001c0001t0019g0030 a0001c0001t0019g0031 a0001c0001t0030g0067 a0001c0001t0040g0291 a0001c0001t0042g0104 a0002c0002t0038g0271 a0004c0005t0001g0082 a0006c0004t0046g0037	69	345	0.2000	13	c.23 others(24): Show c.2356_*2368dupAAAAAAAAAAAAA	MARVELD2	ENSG00000152939.17	transcript	ENST00000325631.10	protein_coding	7/7	2369	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAS1_chr6_159885988_159922447	159894418	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0057 a0001c0001t0069g0057	1	348	0.0029	13	c.-24 others(32): Show c.-244+3294_-244+3306dupAAAAAAAAAAAAA	MAS1	ENSG00000130368.7	transcript	ENST00000674077.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
MAST1_chr19_12833515_12879952	12868103	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02129.hp1 HG03471.hp1 others(2): Show HG01934.hp2 HG02129.hp1 HG03471.hp1 HG03516.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0071 a0001c0001t0001g0203 a0001c0001t0001g0285 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0203 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0007t0001g0189	5	316	0.0158	13	c.256 others(30): Show c.2566+137_2566+149dupTTTTTTTTTTTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45883685	A A	ATGAATTC others(6): Show ATGAATTCTATTAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp2 HG03453.hp1 HG03540.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0264 a0004c0011t0001g0265 a0004c0011t0001g0264 a0004c0011t0001g0265	2	288	0.0069	13	c.500 others(30): Show c.500+1292_500+1304dupGAATTCTATTATT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01167.hp1 others(12): Show HG00323.hp2 HG01109.hp1 HG01167.hp1 HG01258.hp1 HG02155.hp1 HG02300.hp1 HG02615.hp1 HG02735.hp2 HG02818.hp2 HG03130.hp2 HG03209.hp2 HG03669.hp2 NA18906.hp1 NA18947.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0018	a0001c0001 a0002c0002 a0002c0007 others(4): Show a0001c0001 a0002c0002 a0002c0007 a0003c0003 a0004c0004 a0005c0005 a0018c0027	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0005c0005t0004 a0018c0027t0001	a0001c0001t0001g0139 a0001c0001t0001g0250 a0002c0002t0001g0015 others(12): Show a0001c0001t0001g0139 a0001c0001t0001g0250 a0002c0002t0001g0015 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0051 a0002c0002t0001g0076 a0002c0007t0001g0134 a0003c0003t0001g0092 a0003c0003t0001g0114 a0004c0004t0001g0275 a0005c0005t0001g0280 a0005c0005t0001g0284 a0005c0005t0004g0283 a0018c0027t0001g0087	15	288	0.0521	13	c.500 others(30): Show c.500+1525_500+1526insCCCCCCCCCCCCC	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45888663	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18979.hp1 NA18986.hp1 HG02970.hp1 NA18979.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0246 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0246	3	288	0.0104	13	c.500 others(30): Show c.500+6292_500+6304dupTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45900195	A A	AAAAAAAA others(6): Show AAAAAAAAAAGATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00673.hp1 others(47): Show HG00408.hp2 HG00438.hp1 HG00673.hp1 HG00733.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02135.hp1 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18959.hp1 NA18960.hp1 NA18970.hp1 NA18977.hp2 NA19001.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19083.hp2 NA19090.hp1 NA20129.hp1	a0002 a0003 a0011 others(3): Show a0002 a0003 a0011 a0018 a0019 a0021	a0002c0002 a0002c0029 a0003c0003 others(7): Show a0002c0002 a0002c0029 a0003c0003 a0003c0017 a0003c0018 a0003c0030 a0011c0019 a0018c0027 a0019c0032 a0021c0031	a0002c0002t0001 a0002c0029t0001 a0003c0003t0001 others(7): Show a0002c0002t0001 a0002c0029t0001 a0003c0003t0001 a0003c0017t0001 a0003c0018t0001 a0003c0030t0001 a0011c0019t0001 a0018c0027t0001 a0019c0032t0001 a0021c0031t0001	a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0030 others(47): Show a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0090 a0002c0002t0001g0096 a0002c0029t0001g0116 a0003c0003t0001g0091 a0003c0003t0001g0095 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0112 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0017t0001g0108 a0003c0018t0001g0103 a0003c0018t0001g0106 a0003c0030t0001g0110 a0011c0019t0001g0111 a0011c0019t0001g0142 a0018c0027t0001g0087 a0019c0032t0001g0066 a0021c0031t0001g0088	50	288	0.1736	13	c.500 others(32): Show c.500+17800_500+17801insAAAAAAAAAGATT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28			chr1	TogoVar
MAST2_chr1_45798612_46041122	45941668	C C	CTATTTGT others(6): Show CTATTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02897.hp2 others(2): Show HG02615.hp2 HG02647.hp2 HG02897.hp2 HG03130.hp2 NA18522.hp1	a0002 a0013 a0002 a0013	a0002c0002 a0013c0021 a0002c0002 a0013c0021	a0002c0002t0001 a0013c0021t0001 a0002c0002t0001 a0013c0021t0001	a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0045 others(2): Show a0002c0002t0001g0032 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0072 a0013c0021t0001g0031	5	288	0.0174	13	c.501 others(32): Show c.501-17706_501-17705insTTATTTGTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45975495	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0134 a0002c0007t0001g0134	1	288	0.0035	13	c.592 others(32): Show c.592+16032_592+16044dupAAAAAAAAAAAAA	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr1	TogoVar

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