Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
MSLN_chr16_755734_773862	767711	G G	GGGCGTGG others(11): Show GGGCGTGGAGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0025 a0025	a0025c0042 a0025c0042	a0025c0042t0001 a0025c0042t0001	a0025c0042t0001g0170 a0025c0042t0001g0170	1	388	0.0026	18	c.159 others(35): Show c.1596+242_1596+243insGCGTGGAGGGGGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769182	G G	GCCCCGGC others(11): Show GCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0023 a0006c0007t0001g0023	1	388	0.0026	18	c.44 others(27): Show c.449_*450insCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		321		chr16	TogoVar
MSLN_chr16_755734_773862	769206	A A	ACCCCGGC others(11): Show ACCCCGGCCCCGGCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02056.hp2 NA18980.hp1 HG00738.hp2 HG02056.hp2 NA18980.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0005 a0002c0003 a0005c0005	a0002c0003t0001 a0005c0005t0001 a0002c0003t0001 a0005c0005t0001	a0002c0003t0001g0088 a0005c0005t0001g0031 a0005c0005t0001g0039 a0002c0003t0001g0088 a0005c0005t0001g0031 a0005c0005t0001g0039	3	388	0.0077	18	c.47 others(27): Show c.473_*474insCCCCGGCCCCGGCCCCGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		345		chr16	TogoVar
MSLN_chr16_755734_773862	769212	A A	ACCCCGGC others(11): Show ACCCCGGCCCCGGCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01943.hp1 HG01981.hp2 others(3): Show HG01081.hp1 HG01943.hp1 HG01981.hp2 HG02273.hp2 HG02293.hp1 HG02886.hp2	a0001 a0026 a0001 a0026	a0001c0001 a0026c0030 a0001c0001 a0026c0030	a0001c0001t0001 a0026c0030t0001 a0001c0001t0001 a0026c0030t0001	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 others(3): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0160 a0026c0030t0001g0129	6	388	0.0155	18	c.47 others(27): Show c.479_*480insCCCCGGCCCCGGCCCCGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		351		chr16	TogoVar
MSLN_chr16_755734_773862	769235	G G	GGCCCCAG others(11): Show GGCCCCAGCCCCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 NA18522.hp1 NA18984.hp2 others(1): Show HG01433.hp2 NA18522.hp1 NA18984.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0124 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0001g0124 a0002c0003t0002g0247	4	388	0.0103	18	c.50 others(27): Show c.502_*503insGCCCCAGCCCCAGCCCCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		374		chr16	TogoVar
MSLN_chr16_755734_773862	769235	G G	GGCCCCGG others(11): Show GGCCCCGGCCCCGGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01993.hp1 HG02155.hp1 others(1): Show HG01934.hp1 HG01993.hp1 HG02155.hp1 HG03486.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0001 a0002c0003t0001 a0005c0005t0009 a0001c0001t0001 a0002c0003t0001 a0005c0005t0009	a0001c0001t0001g0279 a0001c0001t0001g0284 a0002c0003t0001g0059 others(1): Show a0001c0001t0001g0279 a0001c0001t0001g0284 a0002c0003t0001g0059 a0005c0005t0009g0032	4	388	0.0103	18	c.50 others(27): Show c.502_*503insGCCCCGGCCCCGGCCCCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		374		chr16	TogoVar
MSLN_chr16_755734_773862	770484	C C	CCCCACCC others(11): Show CCCCACCCCCACCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG02895.hp2 others(1): Show HG01109.hp2 HG02622.hp1 HG02895.hp2 HG02897.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0001 a0009c0011t0001 a0001c0001t0001 a0009c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0073 a0009c0011t0001g0005 a0001c0001t0001g0005 a0001c0001t0001g0073 a0009c0011t0001g0005	4	388	0.0103	18	c.17 others(29): Show c.1751_*1752insCCCACCCCCACCCCCACT	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		1623		chr16	TogoVar
MSMB_chr10_46028313_46051269	46044575	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02486.hp1 HG02897.hp2 HG01123.hp2 HG02486.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070	3	446	0.0067	18	c.3+1 others(31): Show c.3+1642_3+1659dupTTTTTTTTTTTTTTTTTT	MSMB	ENSG00000263639.7	transcript	ENST00000582163.3	protein_coding	1/3			chr10	TogoVar
MSN_chrX_65662654_65746931	65696225	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19030.hp2 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0025 a0001c0001t0002g0009 a0001c0001t0002g0025	2	170	0.0118	18	c.13- others(35): Show c.13-20583_13-20566dupACACACACACACACACAC	MSN	ENSG00000147065.18	transcript	ENST00000360270.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
MSR1_chr8_16102881_16197651	16102923	A A	ATGTATAC others(11): Show ATGTATACATATGTGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG03195.hp1 others(1): Show HG01891.hp1 HG02717.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0269 a0001c0001t0002g0283	4	330	0.0121	18	c.71 others(29): Show c.7161_*7162insCATACACATATGTATACA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding		4957		chr8	TogoVar
MSR1_chr8_16102881_16197651	16102930	C C	CATATGTG others(11): Show CATATGTGTATGTGTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(42): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG01069.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp1 HG01981.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02735.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp2 HG03239.hp2 HG03669.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18948.hp2 NA18986.hp2 NA18999.hp1 NA19003.hp2 NA19043.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19078.hp2 NA19088.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0039 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0021 others(42): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0112 a0001c0001t0001g0168 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0255 a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0002g0006 a0001c0001t0002g0038 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0273 a0001c0001t0011g0239 a0001c0001t0016g0319 a0001c0001t0018g0088 a0001c0001t0019g0287 a0001c0001t0023g0020 a0001c0001t0023g0212 a0001c0001t0039g0172 a0002c0002t0001g0107 a0002c0002t0001g0119 a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0002g0153	45	330	0.1364	18	c.71 others(29): Show c.7154_*7155insATATACACATACACATAT	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding		4950		chr8	TogoVar
MSR1_chr8_16102881_16197651	16189431	C C	CTTATTTT others(11): Show CTTATTTTATATATATTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02572.hp2 others(10): Show HG01109.hp2 HG01361.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 NA21309.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0001 a0001c0006 a0003c0004 others(2): Show a0001c0001 a0001c0006 a0003c0004 a0011c0021 a0012c0012	a0001c0001t0001 a0001c0001t0025 a0001c0006t0009 others(5): Show a0001c0001t0001 a0001c0001t0025 a0001c0006t0009 a0003c0004t0001 a0003c0004t0014 a0003c0004t0015 a0011c0021t0015 a0012c0012t0001	a0001c0001t0001g0061 a0001c0001t0025g0063 a0001c0006t0009g0054 others(10): Show a0001c0001t0001g0061 a0001c0001t0025g0063 a0001c0006t0009g0054 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0059 a0003c0004t0001g0064 a0003c0004t0014g0060 a0003c0004t0015g0058 a0003c0004t0015g0062 a0003c0004t0015g0065 a0011c0021t0015g0066 a0012c0012t0001g0055	13	330	0.0394	18	c.-5+ others(33): Show c.-5+3166_-5+3167insAAAATATATATAAAATAA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSRA_chr8_10049292_10433891	10113292	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01884.hp2 others(9): Show HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02027.hp2 HG03453.hp2 NA18960.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA19003.hp2 NA19060.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0088 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0137 a0001c0001t0001g0269 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0002t0002g0018 a0001c0002t0002g0258	12	286	0.0420	18	c.142 others(37): Show c.142+58639_142+58656dupTTTTTTTTTTTTTTTTTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283836	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	286	0.0035	18	c.332 others(37): Show c.332-17697_332-17696insTACACACACACACACACA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283836	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	286	0.0035	18	c.332 others(37): Show c.332-17697_332-17696insTATACACACACACACACA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283836	T T	TATATATA others(11): Show TATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03098.hp1 NA19070.hp2 HG02895.hp1 HG03098.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0041 a0001c0002t0002g0212 a0001c0002t0002g0216 a0001c0001t0003g0041 a0001c0002t0002g0212 a0001c0002t0002g0216	3	286	0.0105	18	c.332 others(37): Show c.332-17697_332-17696insTATATACACACACACACA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283836	T T	TATATATA others(11): Show TATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	286	0.0035	18	c.332 others(37): Show c.332-17697_332-17696insTATATATACACACACACA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10283836	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03491.hp1 HG02486.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0095 a0001c0002t0002g0092 a0001c0001t0001g0095 a0001c0002t0002g0092	2	286	0.0070	18	c.332 others(37): Show c.332-17697_332-17696insTATATATATACACACACA	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10323745	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02896.hp1 HG03688.hp2 others(3): Show HG01109.hp2 HG02896.hp1 HG03688.hp2 HG04204.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0086 a0001c0001t0001g0141 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0002t0002g0111 a0001c0002t0002g0146	6	286	0.0210	18	c.543 others(35): Show c.543+3769_543+3786dupGTGTGTGTGTGTGTGTGT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10328027	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03486.hp2 HG02280.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0052 a0001c0001t0009g0064 a0001c0001t0004g0052 a0001c0001t0009g0064	2	286	0.0070	18	c.543 others(35): Show c.543+8046_543+8063dupTTTTTTTTTTTTTTTTTT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10363738	C C	CCACACAC others(11): Show CCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01109.hp1 others(24): Show HG00597.hp1 HG00738.hp2 HG01109.hp1 HG01123.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02451.hp1 HG02683.hp1 HG02683.hp2 HG02965.hp1 HG03098.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18957.hp1 NA18957.hp2 NA18970.hp2 NA18988.hp1 NA19003.hp1 NA19068.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0088 others(24): Show a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0195 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0003g0002 a0001c0001t0003g0107 a0001c0001t0003g0130 a0001c0001t0003g0176 a0001c0001t0003g0240 a0001c0001t0003g0265 a0001c0001t0004g0071 a0001c0001t0008g0219 a0001c0001t0011g0221 a0001c0002t0002g0101 a0001c0002t0002g0173 a0001c0002t0002g0212 a0001c0002t0002g0220	27	286	0.0944	18	c.543 others(37): Show c.543+43773_543+43790dupACACACACACACACACAC	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10417754	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01255.hp1 HG01257.hp1 others(17): Show HG00544.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01981.hp2 HG01993.hp1 HG02258.hp1 HG02630.hp1 HG02630.hp2 HG03041.hp1 HG03516.hp1 NA18942.hp2 NA18946.hp1 NA18970.hp2 NA18993.hp2 NA18994.hp1 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013	a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0003g0082 others(17): Show a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0003g0082 a0001c0001t0008g0219 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0097 a0001c0002t0002g0125 a0001c0002t0002g0128 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0188 a0001c0002t0002g0255 a0001c0002t0002g0264 a0001c0002t0002g0275 a0001c0002t0010g0223 a0001c0002t0013g0271	20	286	0.0699	18	c.544 others(37): Show c.544-10386_544-10369dupGTGTGTGTGTGTGTGTGT	MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB1_chr16_1933229_1948199	1934084	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	18	c.50 others(29): Show c.5027_*5028insAAAAAAAAAAAAAAAAAA	MSRB1	ENSG00000198736.13	transcript	ENST00000361871.8	protein_coding		4144		chr16	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTCTGT others(11): Show CTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02735.hp1 HG03688.hp2 others(1): Show HG01361.hp2 HG02735.hp1 HG03688.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0070 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0003g0070 a0001c0002t0002g0072	4	442	0.0091	18	c.118 others(33): Show c.118+627_118+628insCTCTGTGTGTGTGTGTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02109.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0277 a0001c0002t0002g0278 a0001c0001t0001g0277 a0001c0002t0002g0278	2	442	0.0045	18	c.118 others(33): Show c.118+627_118+628insCTGTGTGTGTGTGTGTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB2_chr10_23090579_23127013	23096352	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01943.hp1 HG01978.hp2 others(8): Show HG01243.hp2 HG01943.hp1 HG01978.hp2 HG01993.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp2 HG03139.hp2 HG03225.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0289 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0004g0021	11	442	0.0249	18	c.118 others(33): Show c.118+630_118+647dupGTGTGTGTGTGTGTGTGT	MSRB2	ENSG00000148450.13	transcript	ENST00000376510.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MSRB3_chr12_65273683_65471907	65396700	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0047 a0001c0001t0024g0047	1	312	0.0032	18	c.292 others(37): Show c.292+27675_292+27676insGAAAGAAAGAAAGAAAGA	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65422388	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0123 a0001c0001t0014g0123	1	312	0.0032	18	c.293 others(37): Show c.293-31314_293-31297dupATATATATATATATATAT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSS51_chr10_73418579_73438561	73436017	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	316	0.0032	18	c.-25 others(29): Show c.-2523_-2522insCACACACACACACACACA	MSS51	ENSG00000166343.10	transcript	ENST00000299432.7	protein_coding		2457		chr10	TogoVar
MSS51_chr10_73418579_73438561	73436056	T T	TGCGCGCA others(11): Show TGCGCGCACGCGTGCACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	316	0.0032	18	c.-25 others(29): Show c.-2562_-2561insGCGTGCACGCGTGCGCGC	MSS51	ENSG00000166343.10	transcript	ENST00000299432.7	protein_coding		2496		chr10	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(11): Show ATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp2 NA19060.hp1 NA18941.hp1 NA18941.hp2 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0002 a0002c0002t0002g0002 a0002c0002t0001g0002 a0002c0002t0002g0002	3	398	0.0075	18	c.-10 others(29): Show c.-1006_-1005insTATATATATATATATATT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(11): Show ATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	18	c.-10 others(29): Show c.-1006_-1005insTATATATATATATATTTT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSTO1_chr1_155605218_155619951	155609243	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	398	0.0025	18	c.-10 others(29): Show c.-1006_-1005insTATATATATATATTTTTT	MSTO1	ENSG00000125459.18	transcript	ENST00000245564.8	protein_coding		974		chr1	TogoVar
MSX1_chr4_4854665_4868936	4858513	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0004 a0002c0002t0016g0004	1	440	0.0023	18	c.-13 others(29): Show c.-1387_-1386insATTATTATTATTATTATT	MSX1	ENSG00000163132.8	transcript	ENST00000382723.5	protein_coding		1151		chr4	TogoVar
MSX1_chr4_4854665_4868936	4858514	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp1 HG00738.hp1 others(10): Show HG00323.hp1 HG00609.hp1 HG00738.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01891.hp2 HG02145.hp2 HG03195.hp2 NA18950.hp1 NA18975.hp2 NA19057.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0044 a0001c0001t0061 a0001c0001t0065 a0001c0001t0082 a0001c0001t0083 a0002c0002t0016	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0002g0014 others(9): Show a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0003g0001 a0001c0001t0009g0005 a0001c0001t0012g0001 a0001c0001t0044g0041 a0001c0001t0061g0001 a0001c0001t0065g0007 a0001c0001t0082g0001 a0001c0001t0083g0001 a0002c0002t0016g0004	13	440	0.0296	18	c.-13 others(29): Show c.-1386_-1385insTTATTATTATTATTATTA	MSX1	ENSG00000163132.8	transcript	ENST00000382723.5	protein_coding		1150		chr4	TogoVar
MT1E_chr16_56620781_56632112	56624129	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	458	0.0022	18	c.-17 others(29): Show c.-1723_-1722insTGTGTGTATATATATATA	MT1E	ENSG00000169715.15	transcript	ENST00000330439.7	protein_coding		1651		chr16	TogoVar
MT1HL1_chr1_236999103_237009441	237004028	C C	CTTTATTT others(11): Show CTTTATTTTATTTTATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	468	0.0021	18	c.15 others(27): Show c.158_*159insAAAATAAAATAAAATAAA	MT1HL1	ENSG00000244020.3	transcript	ENST00000464121.3	protein_coding		74		chr1	TogoVar
MT1HL1_chr1_236999103_237009441	237005747	T T	TACACACA others(11): Show TACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(41): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG01358.hp1 HG02015.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG03516.hp1 HG03710.hp1 HG03942.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18976.hp1 NA18977.hp1 NA18978.hp2 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19007.hp1 NA19055.hp2 NA19058.hp2 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	44	468	0.0940	18	c.-13 others(29): Show c.-1376_-1375insGTGTGTGTGTGTGTGTGT	MT1HL1	ENSG00000244020.3	transcript	ENST00000464121.3	protein_coding		1307		chr1	TogoVar
MT1HL1_chr1_236999103_237009441	237005753	C C	CACACACA others(11): Show CACACACACACACACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	468	0.0021	18	c.-13 others(29): Show c.-1382_-1381insCTGTGTGTGTGTGTGTGT	MT1HL1	ENSG00000244020.3	transcript	ENST00000464121.3	protein_coding		1313		chr1	TogoVar
MT3_chr16_56584528_56596085	56592142	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18747.hp1 NA18942.hp1 others(3): Show HG00408.hp2 NA18747.hp1 NA18942.hp1 NA18949.hp1 NA18981.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0005 a0001c0001t0001g0006	6	438	0.0137	18	c.11 others(29): Show c.1193_*1194insATATATATATATATATAT	MT3	ENSG00000087250.9	transcript	ENST00000200691.5	protein_coding		1058		chr16	TogoVar
MT4_chr16_56560073_56573957	56561683	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03130.hp2 HG03209.hp1 others(3): Show HG02109.hp1 HG03130.hp2 HG03209.hp1 HG03540.hp2 HG03942.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0093 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0093 a0002c0002t0001g0112 a0002c0002t0001g0130 a0002c0002t0001g0167	6	428	0.0140	18	c.-34 others(29): Show c.-3446_-3445insTTTTTTTTTTTTTTTTTT	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding		3389		chr16	TogoVar
MT4_chr16_56560073_56573957	56568271	G G	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	428	0.0023	18	c.97+ others(31): Show c.97+458_97+459insGAGAGAAAGAAAGAAAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568271	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	428	0.0023	18	c.97+ others(31): Show c.97+458_97+459insGAGAGAGAAGAAGAAAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA1_chr14_105414827_105475729	105463104	G G	GCTGCAGC others(11): Show GCTGCAGCCCTGCCCCTGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0121 a0002c0015t0001g0121	1	304	0.0033	18	c.943 others(31): Show c.943-79_943-78insTGCAGCCCTGCCCCTGCC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTA1_chr14_105414827_105475729	105474139	T T	TGGAGGTG others(11): Show TGGAGGTGGCGGCGCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	304	0.0033	18	c.39 others(29): Show c.3924_*3925insGGAGGTGGCGGCGCCTTC	MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding		3411		chr14	TogoVar
MTA3_chr2_42563632_42761946	42586477	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	312	0.0032	18	c.190 others(35): Show c.190+7297_190+7314dupCACACACACACACACACA	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG04228.hp1 HG02630.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0298 a0002c0002t0004g0272 a0001c0001t0003g0298 a0002c0002t0004g0272	2	312	0.0064	18	c.191 others(37): Show c.191-14729_191-14728insATATATATATATATATTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02698.hp1 HG03492.hp1 HG02486.hp2 HG02698.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0002c0002t0011 a0001c0001t0003 a0001c0001t0008 a0002c0002t0011	a0001c0001t0003g0301 a0001c0001t0008g0299 a0002c0002t0011g0270 a0001c0001t0003g0301 a0001c0001t0008g0299 a0002c0002t0011g0270	3	312	0.0096	18	c.191 others(37): Show c.191-14729_191-14728insATATATATATATATTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42594728	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	312	0.0032	18	c.191 others(37): Show c.191-14729_191-14728insATATATATATATTTTTTT	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA3_chr2_42563632_42761946	42611322	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG04204.hp1 HG01978.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0198 a0001c0001t0002g0180 a0001c0001t0002g0198	2	312	0.0064	18	c.317 others(35): Show c.317+1739_317+1756dupACACACACACACACACAC	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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