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
MAP7D2_chrX_20001713_20121907	20094512	A A	ATGTATAT others(19): Show ATGTATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0190 a0001c0013t0001g0190	1	210	0.0048	26	c.130 others(45): Show c.130+22237_130+22238insCATATATATATATATATATATATACA	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAP7_chr6_136337734_136555422	136394931	C C	CATATATA others(19): Show CATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02818.hp1 others(4): Show HG02109.hp2 HG02257.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 others(4): Show a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0044	7	248	0.0282	26	c.245 others(43): Show c.245-5415_245-5414insATATATGTATATATATATATATATAT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	3/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136414252	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	248	0.0040	26	c.167 others(43): Show c.167-2581_167-2556dupTTTTTTTTTTTTTTTTTTTTTTTTTT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	2/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456767	G G	GGAGAAGA others(19): Show GGAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	248	0.0040	26	c.68- others(43): Show c.68-34969_68-34968insTTCTTCTTCTTCTTCTTCTTCTTCTC	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136456872	A A	AAGAAGAA others(19): Show AAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0111 a0001c0001t0008g0111	1	248	0.0040	26	c.68- others(43): Show c.68-35074_68-35073insCTTCTTCTTCTTCTTCTTCTTCTTCT	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136505273	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0195 a0002c0002t0002g0195	1	248	0.0040	26	c.67+ others(43): Show c.67+45068_67+45069insTATATATATATATATATATATATATA	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAP7_chr6_136337734_136555422	136505277	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	248	0.0040	26	c.67+ others(43): Show c.67+45064_67+45065insTATATATATATATATATATATATACA	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17			chr6	TogoVar
MAPK10_chr4_86005405_86365053	86103095	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0014 a0001c0001t0029g0014	1	170	0.0059	26	c.425 others(39): Show c.425+90_425+91insAACACACACACACACACACACACACA	MAPK10	ENSG00000109339.24	transcript	ENST00000641462.2	protein_coding	6/13			chr4	TogoVar
MAPK1_chr22_21754657_21872645	21789880	T T	TAACATAA others(19): Show TAACATAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01433.hp1 HG01928.hp2 others(6): Show HG00609.hp2 HG01433.hp1 HG01928.hp2 HG02615.hp1 HG03139.hp1 NA18949.hp2 NA19010.hp2 NA19077.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015	a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0116 others(6): Show a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0129 a0001c0001t0002g0290 a0001c0001t0003g0061 a0001c0001t0009g0324 a0001c0001t0011g0038 a0001c0001t0015g0122	9	348	0.0259	26	c.610 others(43): Show c.610-1073_610-1072insTATGTTATGTTATGTTATGTTATGTT	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	4/8			chr22	TogoVar
MAPK1_chr22_21754657_21872645	21813039	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	348	0.0029	26	c.120 others(43): Show c.120-5194_120-5193insTTTTTTTTTTTTTTTTTTTTTTTTTT	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPK1_chr22_21754657_21872645	21814854	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02965.hp2 NA18993.hp2 HG00438.hp1 HG02965.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0245 a0001c0001t0001g0283 a0001c0001t0001g0170 a0001c0001t0001g0245 a0001c0001t0001g0283	3	348	0.0086	26	c.120 others(43): Show c.120-7034_120-7009dupCTCTCTCTCTCTCTCTCTCTCTCTCT	MAPK1	ENSG00000100030.15	transcript	ENST00000215832.11	protein_coding	1/8			chr22	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02293.hp2 HG02056.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0340 a0001c0001t0006g0119 a0001c0001t0001g0340 a0001c0001t0006g0119	2	356	0.0056	26	c.-39 others(37): Show c.-3938_-3937insCGCGCGCGCGCGCGCACACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK6_chr15_52014219_52072375	52016070	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCGCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	356	0.0028	26	c.-39 others(37): Show c.-3938_-3937insCGCGCGCGCGCGCGCGCACACACACA	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding		3148		chr15	TogoVar
MAPK6_chr15_52014219_52072375	52030611	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0033 a0001c0002t0005g0033	1	356	0.0028	26	c.-63 others(47): Show c.-632+11240_-632+11265dupTTTTTTTTTTTTTTTTTTTTTTTT TT	MAPK6	ENSG00000069956.14	transcript	ENST00000261845.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPK8_chr10_48301677_48444360	48324503	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTGGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03491.hp2 HG01516.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0250 a0001c0001t0006g0251	2	306	0.0065	26	c.-50 others(45): Show c.-50+17695_-50+17696insGGTTTTTTTTTTTTTTTTTTTTTTTT	MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691482	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01175.hp2 others(9): Show HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01891.hp2 HG02109.hp2 HG02572.hp2 HG03209.hp1 HG03471.hp1 HG04184.hp2 NA18961.hp2 NA19064.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0004t0001	a0001c0001t0002g0144 a0001c0001t0002g0313 a0001c0001t0002g0314 others(8): Show a0001c0001t0002g0144 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0003g0145 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0014g0146 a0001c0004t0001g0010 a0001c0004t0001g0040	12	382	0.0314	26	c.279 others(43): Show c.279+5997_279+5998insTATATATATATATATATATATATATA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691502	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA21309.hp2 HG02818.hp1 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0157 a0002c0003t0004g0322 a0002c0003t0004g0157 a0002c0003t0004g0322	2	382	0.0052	26	c.279 others(43): Show c.279+5997_279+5998insTATATATATATATATATATATACATA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691504	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	382	0.0026	26	c.279 others(43): Show c.279+5997_279+5998insTATATATATATATATATATATACACA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206691504	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01071.hp1 others(4): Show HG00140.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003	a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 others(4): Show a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0003g0287 a0001c0002t0003g0289	7	382	0.0183	26	c.279 others(43): Show c.279+5997_279+5998insTATATATATATATATATATATATACA	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKAPK2_chr1_206679905_206739281	206712962	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0060 a0001c0001t0013g0060	1	382	0.0026	26	c.280 others(45): Show c.280-15730_280-15705dupACACACACACACACACACACACACAC	MAPKAPK2	ENSG00000162889.11	transcript	ENST00000367103.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0271 a0003c0004t0003g0271	1	328	0.0031	26	c.114 others(45): Show c.114+11389_114+11390insAAAAAAAAAATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03710.hp1 HG02976.hp2 HG03710.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0011 a0003c0004t0003 a0003c0004t0011	a0003c0004t0003g0065 a0003c0004t0011g0067 a0003c0004t0003g0065 a0003c0004t0011g0067	2	328	0.0061	26	c.114 others(45): Show c.114+11389_114+11390insAAAAAATATATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	328	0.0031	26	c.114 others(45): Show c.114+11389_114+11390insAATATATATATATATATATATATATA	MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPRE2_chr18_35036413_35148470	35055537	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0251 a0001c0001t0007g0251	1	370	0.0027	26	c.122 others(45): Show c.122+13878_122+13903dupGTGTGTGTGTGTGTGTGTGTGTGTGT	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPRE2_chr18_35036413_35148470	35057507	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	370	0.0027	26	c.123 others(45): Show c.123-12664_123-12663insGTGTGTGTGTGTGTGTGTGTGTGTGT	MAPRE2	ENSG00000166974.13	transcript	ENST00000300249.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
MAPRE3_chr2_26965637_27032219	26995780	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	258	0.0039	26	c.-8+ others(43): Show c.-8+25003_-8+25028dupGTGTGTGTGTGTGTGTGTGTGTGTGT	MAPRE3	ENSG00000084764.12	transcript	ENST00000233121.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0018 a0003c0004t0004g0018	1	253	0.0040	26	c.-17 others(45): Show c.-17-15705_-17-15704insAAAAAAAAAAAATATATATATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MAPT_chr17_45889554_46033334	45946615	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0006 a0003c0004t0004g0006	1	253	0.0040	26	c.-17 others(45): Show c.-17-15705_-17-15704insAAAAAAAAAATATATATATATATATA	MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01168.hp2 others(4): Show HG00621.hp2 HG00642.hp1 HG01168.hp2 HG01884.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0197 others(4): Show a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0197 a0001c0001t0001g0253 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0002g0166	7	280	0.0250	26	c.210 others(43): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAA	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10			chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62738060	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	280	0.0036	26	c.536 others(41): Show c.536-754_536-729dupTGTGTGTGTGTGTGTGTGTGTGTGTG	MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	5/10			chr17	TogoVar
MARCHF11_chr5_16062139_16184791	16160329	A A	ATTTAATA others(19): Show ATTTAATATATTAATTATATATTAAAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18944.hp1 HG02080.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	298	0.0067	26	c.693 others(45): Show c.693+17396_693+17397insATTTAATATATAATTAATATATTAAA	MARCHF11	ENSG00000183654.9	transcript	ENST00000332432.9	protein_coding	2/3			chr5	TogoVar
MARCHF1_chr4_163519718_164389019	163590057	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	102	0.0098	26	c.101 others(45): Show c.1011-4129_1011-4128insACACACACACACACACACACACACAC	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	7/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163733195	A A	ATATATAT others(19): Show ATATATATATATATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp2 HG03453.hp1 HG01109.hp2 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0026 a0001c0002t0011 a0001c0001t0006 a0001c0001t0026 a0001c0002t0011	a0001c0001t0006g0053 a0001c0001t0026g0032 a0001c0002t0011g0013 a0001c0001t0006g0053 a0001c0001t0026g0032 a0001c0002t0011g0013	3	102	0.0294	26	c.112 others(45): Show c.112-32333_112-32332insCACGTGTATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163817302	C C	CATACATA others(19): Show CATACATATATATGTACATATACACAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG03139.hp2 HG02055.hp2 HG02723.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0005 a0001c0002t0015 a0001c0005t0016 a0001c0001t0005 a0001c0002t0015 a0001c0005t0016	a0001c0001t0005g0029 a0001c0002t0015g0050 a0001c0005t0016g0048 a0001c0001t0005g0029 a0001c0002t0015g0050 a0001c0005t0016g0048	3	102	0.0294	26	c.111 others(45): Show c.111+36693_111+36718dupATGTGTATATGTACATATATATGTAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163866466	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18969.hp2 NA18944.hp1 NA18969.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0008 a0001c0001t0001 a0002c0003t0008	a0001c0001t0001g0019 a0002c0003t0008g0014 a0001c0001t0001g0019 a0002c0003t0008g0014	2	102	0.0196	26	c.-38 others(45): Show c.-38-12298_-38-12297insTATATATATATATATATATATATATA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164127078	C C	CAAAACAA others(19): Show CAAAACAAAACAAAACAAAACAAAACA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0082 a0001c0002t0003g0082	1	102	0.0098	26	c.-32 others(47): Show c.-322-15417_-322-15416insTGTTTTGTTTTGTTTTGTTTTGTT TT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTATATAC others(19): Show TTATATACATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG01496.hp2 others(4): Show HG01109.hp2 HG01261.hp1 HG01496.hp2 HG02080.hp2 HG03516.hp2 NA18969.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0001c0008t0012 a0002c0004t0003	a0001c0001t0001g0019 a0001c0001t0004g0100 a0001c0001t0006g0053 others(4): Show a0001c0001t0001g0019 a0001c0001t0004g0100 a0001c0001t0006g0053 a0001c0001t0007g0051 a0001c0002t0002g0030 a0001c0008t0012g0026 a0002c0004t0003g0081	7	102	0.0686	26	c.-32 others(47): Show c.-323+43464_-323+43465insTATATATATATATATGTATGTATA TA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164340405	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	102	0.0098	26	c.-32 others(47): Show c.-323+43464_-323+43465insTATATATATATATATATATATATA AA	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG03098.hp2 HG03516.hp2 others(8): Show HG02071.hp2 HG03098.hp2 HG03516.hp2 NA18906.hp2 NA18942.hp1 NA18962.hp1 NA18986.hp1 NA18988.hp2 NA18992.hp1 NA19068.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0001t0035 a0001c0001t0037 a0001c0002t0001	a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0125 others(8): Show a0001c0001t0001g0079 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0004g0103 a0001c0001t0004g0133 a0001c0001t0014g0060 a0001c0001t0018g0121 a0001c0001t0035g0077 a0001c0001t0037g0102 a0001c0002t0001g0158	11	296	0.0372	26	c.37 others(37): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding		833		chr5	TogoVar
MARCHF4_chr2_216252865_216377483	216306111	T T	TTTATACA others(19): Show TTTATACATGCAAAGTTTTAATTGAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02165.hp1 NA18612.hp1 others(14): Show HG00609.hp2 HG02165.hp1 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18950.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18977.hp2 NA18981.hp2 NA18986.hp1 NA18998.hp1 NA19066.hp1 NA19070.hp2 NA19079.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0020 a0001c0001t0029 a0001c0002t0003 a0001c0002t0005	a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0129 others(14): Show a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0129 a0001c0001t0001g0206 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0002g0128 a0001c0001t0003g0230 a0001c0001t0012g0244 a0001c0001t0020g0240 a0001c0001t0029g0008 a0001c0002t0003g0209 a0001c0002t0005g0075	17	330	0.0515	26	c.517 others(45): Show c.517-22408_517-22383dupTTTCAATTAAAACTTTGCATGTATAA	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF4_chr2_216252865_216377483	216336742	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18968.hp1 NA18940.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0247 a0001c0001t0012g0212 a0001c0001t0001g0247 a0001c0001t0012g0212	2	330	0.0061	26	c.516 others(45): Show c.516+33002_516+33003insTTTTTTTTTTTTTTTTTTTTTTTTTT	MARCHF4	ENSG00000144583.5	transcript	ENST00000273067.5	protein_coding	1/3			chr2	TogoVar
MARCHF5_chr10_92286167_92358964	92328821	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0005 a0001c0001t0015g0005	1	306	0.0033	26	c.239 others(45): Show c.239-11851_239-11850insATATATATATATATATATATATATTT	MARCHF5	ENSG00000198060.10	transcript	ENST00000358935.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
MARK3_chr14_103380415_103508831	103481757	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0089 a0001c0004t0004g0089	1	348	0.0029	26	c.158 others(45): Show c.1586+1269_1586+1294dupTTTTTTTTTTTTTTTTTTTTTTTTTT	MARK3	ENSG00000075413.19	transcript	ENST00000429436.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
MARS1_chr12_57483068_57521652	57483097	T T	TCAAAAAA others(19): Show TCAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0194 a0001c0014t0001g0194	1	288	0.0035	26	c.-49 others(37): Show c.-4994_-4993insCAAAAAAAAAAAAAAAAAAAAAAAAA	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding		4970		chr12	TogoVar
MARS1_chr12_57483068_57521652	57508699	A A	AGGTAGAG others(19): Show AGGTAGAGGTAGAGGTAGAGGGTAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(24): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG02040.hp2 HG02083.hp2 HG02523.hp2 HG03491.hp2 HG03516.hp1 NA18941.hp2 NA18950.hp1 NA18966.hp2 NA18971.hp1 NA18983.hp2 NA18997.hp2 NA18999.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0031 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0220 a0001c0001t0001g0235	27	288	0.0938	26	c.136 others(45): Show c.1369-2991_1369-2990insTAGAGGTAGAGGGTAGAGGGTAGAGG	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(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG02071.hp1 homoSapiens_chm13v2.hp1 HG00323.hp2 HG02071.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0001 a0002c0002t0020g0223 a0002c0002t0020g0234 a0002c0002t0020g0001 a0002c0002t0020g0223 a0002c0002t0020g0234	3	345	0.0087	26	c.23 others(37): Show c.2368_*2369insAAAAAAAAAAAAAAAAAAAAAAAAAA	MARVELD2	ENSG00000152939.17	transcript	ENST00000325631.10	protein_coding	7/7	2369	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAST1_chr19_12833515_12879952	12868103	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02055.hp2 HG00621.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0206 a0001c0001t0001g0059 a0001c0001t0001g0206	2	316	0.0063	26	c.256 others(43): Show c.2566+149_2566+150insTTTTTTTTTTTTTTTTTTTTTTTTTT	MAST1	ENSG00000105613.10	transcript	ENST00000251472.9	protein_coding	20/25		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST2_chr1_45798612_46041122	45842485	C C	CATTTTGT others(19): Show CATTTTGTCTGCATTTTGTCTCTATGG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	288	0.0035	26	c.468 others(45): Show c.468+12906_468+12907insTTTGTCTGCATTTTGTCTCTATGGAT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	3/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(19): Show GCCTCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	288	0.0035	26	c.500 others(43): Show c.500+1519_500+1520insTCCCCCCCCCCCCCCCCCCCCCCCCC	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(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0174 a0008c0010t0001g0174	1	288	0.0035	26	c.500 others(43): Show c.500+6279_500+6304dupTTTTTTTTTTTTTTTTTTTTTTTTTT	MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28		INFO_REALIGN_3_PRIME	chr1	TogoVar

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