Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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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
MRGBP_chr20_62791473_62806729	62805392	C C	CCTGGGGC others(11): Show CCTGGGGCTGGGGCTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02965.hp1 HG01255.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	410	0.0049	18	c.57 others(29): Show c.5749_*5750insCTGGGGCTGGGGCTGGGG	MRGBP	ENSG00000101189.7	transcript	ENST00000370487.5	protein_coding		3664		chr20	TogoVar
MRI1_chr19_13759522_13779282	13767008	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0321 a0001c0001t0004g0321	1	460	0.0022	18	c.547 others(33): Show c.547+892_547+909dupATATATATATATATATAT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRI1_chr19_13759522_13779282	13767037	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0011 a0003c0014t0011	a0003c0014t0011g0240 a0003c0014t0011g0240	1	460	0.0022	18	c.547 others(33): Show c.547+909_547+910insATATATATATATATATTT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRNIP_chr5_179832276_179863817	179843041	A A	AGAAGAGG others(11): Show AGAAGAGGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18986.hp2 NA18980.hp2 NA18986.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0015 a0001c0001 a0008c0015	a0001c0001t0001 a0008c0015t0001 a0001c0001t0001 a0008c0015t0001	a0001c0001t0001g0322 a0008c0015t0001g0266 a0001c0001t0001g0322 a0008c0015t0001g0266	2	444	0.0045	18	c.292 others(33): Show c.292-978_292-977insCTTCCTTCTTTCCTCTTC	MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	4/6			chr5	TogoVar
MROH1_chr8_144143016_144266926	144195195	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00673.hp1 others(17): Show HG00280.hp2 HG00597.hp2 HG00673.hp1 HG01192.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02074.hp2 HG02523.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03579.hp1 NA18906.hp1 NA18950.hp2 NA19057.hp1 NA19057.hp2 NA19070.hp1 NA20300.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0014	a0001c0001 a0001c0002 a0003c0003 others(2): Show a0001c0001 a0001c0002 a0003c0003 a0006c0010 a0014c0021	a0001c0001t0001 a0001c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0003c0003t0001 a0006c0010t0001 a0014c0021t0001	a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0041 others(17): Show a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0126 a0003c0003t0001g0008 a0003c0003t0001g0114 a0006c0010t0001g0130 a0014c0021t0001g0089	20	140	0.1429	18	c.948 others(35): Show c.948+2801_948+2818dupAAAAAAAAAAAAAAAAAA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144218805	A A	ACCTCCCC others(11): Show ACCTCCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19240.hp2 HG03471.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0117 a0003c0003t0001g0119 a0001c0001t0001g0117 a0003c0003t0001g0119	2	140	0.0143	18	c.114 others(37): Show c.1142-1780_1142-1763dupCTCCCCTCCCCTCCTCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144234498	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19009.hp1 NA19066.hp1 HG01975.hp2 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0103 a0001c0002t0001g0071 a0001c0002t0001g0100 a0001c0001t0001g0103 a0001c0002t0001g0071 a0001c0002t0001g0100	3	140	0.0214	18	c.133 others(37): Show c.1339-4239_1339-4222dupTTTTTTTTTTTTTTTTTT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH2A_chr2_233773330_233838418	233787681	A A	ATCATATA others(11): Show ATCATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0125 a0125	a0125c0156 a0125c0156	a0125c0156t0001 a0125c0156t0001	a0125c0156t0001g0356 a0125c0156t0001g0356	1	378	0.0027	18	c.277 others(35): Show c.277-1816_277-1815insTCATATATACATATATAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787725	T T	TTATATAT others(11): Show TTATATATCATATATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0001 a0002c0040t0001	a0002c0040t0001g0111 a0002c0040t0001g0111	1	378	0.0027	18	c.277 others(35): Show c.277-1772_277-1771insTATATATCATATATATTA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787819	A A	ACATATAT others(11): Show ACATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0090 a0090	a0090c0098 a0090c0098	a0090c0098t0001 a0090c0098t0001	a0090c0098t0001g0263 a0090c0098t0001g0263	1	378	0.0027	18	c.277 others(35): Show c.277-1678_277-1677insCATATATATTATATATAT	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41			chr2	TogoVar
MROH2A_chr2_233773330_233838418	233813271	A A	AGCTGCTG others(11): Show AGCTGCTGCTGCTGCTGCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0061 a0061	a0061c0193 a0061c0193	a0061c0193t0001 a0061c0193t0001	a0061c0193t0001g0059 a0061c0193t0001g0059	1	378	0.0027	18	c.265 others(35): Show c.2652-394_2652-377dupCTGCTGCTGCTGCTGCTG	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	24/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MROH2B_chr5_40993020_41076342	41057563	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02293.hp1 HG03486.hp1 others(1): Show HG00140.hp2 HG02293.hp1 HG03486.hp1 HG03834.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0087 a0005c0038 a0005c0090 others(1): Show a0001c0087 a0005c0038 a0005c0090 a0007c0009	a0001c0087t0001 a0005c0038t0001 a0005c0090t0001 others(1): Show a0001c0087t0001 a0005c0038t0001 a0005c0090t0001 a0007c0009t0001	a0001c0087t0001g0162 a0005c0038t0001g0161 a0005c0090t0001g0153 others(1): Show a0001c0087t0001g0162 a0005c0038t0001g0161 a0005c0090t0001g0153 a0007c0009t0001g0160	4	396	0.0101	18	c.757 others(33): Show c.757-204_757-203insAAAAAAAAAAAAAAAAAA	MROH2B	ENSG00000171495.17	transcript	ENST00000399564.5	protein_coding	7/41			chr5	TogoVar
MROH9_chr1_170930534_171069765	170970731	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	226	0.0044	18	c.481 others(35): Show c.481-1016_481-1015insTGTGTGTGTGTGTGTGAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL12_chr17_81698367_81712517	81711063	G G	GCTGATTT others(11): Show GCTGATTTAAACAAATAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp2 others(106): Show HG00099.hp2 HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01192.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01993.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02083.hp1 HG02273.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19062.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0002c0002t0002 a0002c0002t0006 a0002c0002t0008 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0009g0040 a0001c0001t0012g0008 a0001c0001t0015g0008 a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0006g0035 a0002c0002t0008g0032 a0004c0004t0001g0026	109	412	0.2646	18	c.38 others(29): Show c.3823_*3824insCTGATTTAAACAAATAGC	MRPL12	ENSG00000262814.8	transcript	ENST00000333676.8	protein_coding		3547		chr17	TogoVar
MRPL35_chr2_86194457_86218790	86198040	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	424	0.0047	18	c.-14 others(29): Show c.-1451_-1450insAAAAAAAAAAAAAAAAAA	MRPL35	ENSG00000132313.15	transcript	ENST00000337109.9	protein_coding		1416		chr2	TogoVar
MRPL36_chr5_1793385_1804837	1799784	T T	TCCCTTAC others(11): Show TCCCTTACCCGGCCACACG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0004c0005t0001 a0001c0001t0001 a0001c0001t0006 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0027 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0006g0032 a0004c0005t0001g0028	157	432	0.3634	18	c.-13 others(29): Show c.-13+7_-13+8insCGTGTGGCCGGGTAAGGG	MRPL36	ENSG00000171421.13	transcript	ENST00000505059.7	protein_coding	1/1			chr5	TogoVar
MRPL36_chr5_1793385_1804837	1799789	T T	TACCCGGC others(11): Show TACCCGGCCGCACGCTCTC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA18982.hp2 NA18988.hp2 NA19000.hp1 NA19010.hp2 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0002g0007 a0001c0001t0004g0016	85	432	0.1968	18	c.-28 others(27): Show c.-28_-13+2dupGAGAGCGTGCGGCCGGGT	MRPL36	ENSG00000171421.13	transcript	ENST00000505059.7	protein_coding	1/1			chr5	TogoVar
MRPL42_chr12_93462514_93521214	93484979	C C	CACACACA others(11): Show CACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	388	0.0026	18	c.220 others(35): Show c.220-2517_220-2516insCACACATATATATATATA	MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(11): Show GCCCCCCCCACCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG06807.hp1 HG02717.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	2	424	0.0047	18	c.25 others(29): Show c.2520_*2521insCCCCCCCCACCCCCCCAC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(11): Show GCCCCCCCCACCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01433.hp2 HG01978.hp2 others(2): Show HG01123.hp2 HG01433.hp2 HG01978.hp2 HG02809.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0020 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0004g0020	5	424	0.0118	18	c.25 others(29): Show c.2520_*2521insCCCCCCCCACCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(11): Show GCCCCCCCCCACCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	18	c.25 others(29): Show c.2520_*2521insCCCCCCCCCACCCACCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(11): Show GCCCCCCCCCACCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	424	0.0024	18	c.25 others(29): Show c.2520_*2521insCCCCCCCCCACCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL47_chr3_179583285_179609638	179598397	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00735.hp1 HG01074.hp2 others(25): Show HG00438.hp2 HG00735.hp1 HG01074.hp2 HG01358.hp1 HG01496.hp2 HG02071.hp2 HG02083.hp2 HG02135.hp1 NA18747.hp1 NA18947.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18982.hp1 NA18998.hp1 NA19002.hp2 NA19012.hp1 NA19065.hp2 NA19072.hp1 NA19081.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0045 others(13): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0172	28	388	0.0722	18	c.402 others(33): Show c.402+260_402+277dupGTGTGTGTGTGTGTGTGT	MRPL47	ENSG00000136522.14	transcript	ENST00000476781.6	protein_coding	4/6			chr3	TogoVar
MRPL48_chr11_73782874_73870133	73812717	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	336	0.0030	18	c.112 others(35): Show c.112+4374_112+4391dupATATATATATATATATAT	MRPL48	ENSG00000175581.14	transcript	ENST00000310614.12	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL48_chr11_73782874_73870133	73825284	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	336	0.0030	18	c.113 others(33): Show c.113-423_113-422insATGTGTGTGTGTGTGTGT	MRPL48	ENSG00000175581.14	transcript	ENST00000310614.12	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL53_chr2_74466982_74477680	74471814	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	18	c.30 others(27): Show c.304_*305insTTTTTTTTTTTTTTTTTT	MRPL53	ENSG00000204822.7	transcript	ENST00000258105.8	protein_coding		167		chr2	TogoVar
MRPS10_chr6_42201807_42222861	42216359	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18992.hp1 NA18994.hp2 others(2): Show NA18967.hp1 NA18992.hp1 NA18994.hp2 NA19056.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0051 a0001c0002t0003g0068 a0001c0002t0003g0069 others(2): Show a0001c0002t0003g0051 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071	5	404	0.0124	18	c.48+ others(33): Show c.48+1425_48+1442dupTCTCTCTCTCTCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS10_chr6_42201807_42222861	42216383	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03195.hp1 NA19043.hp1 HG02109.hp2 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0080 a0001c0002t0002g0029 a0001c0002t0002g0080	3	404	0.0074	18	c.48+ others(33): Show c.48+1418_48+1419insACACACACACACACACAC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS18C_chr4_83451058_83467298	83465299	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	394	0.0025	18	c.41 others(29): Show c.4102_*4103insAAAAAAAAAAAAAAAAAA	MRPS18C	ENSG00000163319.11	transcript	ENST00000295491.9	protein_coding		3002		chr4	TogoVar
MRPS27_chr5_72214403_72325240	72242665	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02738.hp2 HG02735.hp1 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0287 a0002c0002t0002g0288	2	346	0.0058	18	c.282 others(35): Show c.282-4555_282-4538dupGTGTGTGTGTGTGTGTGT	MRPS27	ENSG00000113048.19	transcript	ENST00000261413.10	protein_coding	4/10			chr5	TogoVar
MRPS28_chr8_79913717_80035259	80028645	C C	CGGGCGGG others(11): Show CGGGCGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01192.hp1 others(31): Show HG00642.hp1 HG00673.hp1 HG01192.hp1 HG01192.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA18939.hp2 NA18964.hp1 NA18964.hp2 NA18975.hp1 NA18989.hp1 NA18998.hp1 NA19010.hp1 NA19063.hp1 NA19079.hp2 NA19088.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0006	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0004c0004t0001 a0007c0006t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(31): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0004g0250 a0002c0002t0001g0244 a0002c0002t0003g0243 a0003c0003t0001g0288 a0004c0004t0001g0296 a0007c0006t0001g0002	34	300	0.1133	18	c.213 others(35): Show c.213+1390_213+1391insCCCCCCCCCCCCCCGCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028648	G G	GCGGGGGG others(11): Show GCGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03139.hp1 HG01169.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0276 a0001c0001t0005g0277 a0001c0001t0001g0276 a0001c0001t0005g0277	2	300	0.0067	18	c.213 others(35): Show c.213+1387_213+1388insGCCCCCCCCCCCCCCCCG	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028649	C C	CGGGGGGG others(11): Show CGGGGGGGGGGGGGGGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp2 HG02630.hp2 others(2): Show HG01109.hp2 HG02280.hp2 HG02630.hp2 HG04115.hp2 NA18948.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0218 a0003c0003t0001g0283	5	300	0.0167	18	c.213 others(35): Show c.213+1386_213+1387insCGCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS31_chr13_40724128_40776190	40769373	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	404	0.0025	18	c.152 others(35): Show c.152+1594_152+1611dupATATATATATATATATAT	MRPS31	ENSG00000102738.8	transcript	ENST00000323563.8	protein_coding	1/6			chr13	TogoVar
MRPS35_chr12_27705832_27761295	27733034	A A	ATCTATCT others(11): Show ATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	358	0.0028	18	c.523 others(35): Show c.523-2412_523-2411insCTATCTATCTATCTATCT	MRPS35	ENSG00000061794.13	transcript	ENST00000081029.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPS36_chr5_69212760_69235158	69218470	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02280.hp2 HG03041.hp1 HG02040.hp2 HG02280.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228	3	409	0.0073	18	c.42+ others(31): Show c.42+611_42+628dupGTGTGTGTGTGTGTGTGT	MRPS36	ENSG00000134056.12	transcript	ENST00000256441.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
MRPS6_chr21_34068578_34148030	34068799	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02897.hp2 HG02559.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0178 a0001c0001t0001g0151 a0001c0001t0001g0178	2	296	0.0068	18	c.-49 others(29): Show c.-4902_-4901insAAAAAAAAAAAAAAAAAA	MRPS6	ENSG00000243927.6	transcript	ENST00000399312.3	protein_coding		4778		chr21	TogoVar
MRPS9_chr2_105033069_105104960	105084247	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	394	0.0025	18	c.489 others(35): Show c.489+4190_489+4207dupATATATATATATATATAT	MRPS9	ENSG00000135972.9	transcript	ENST00000258455.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
MRRF_chr9_122259882_122336337	122325631	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0089 a0001c0001t0095g0089	1	264	0.0038	18	c.30 others(29): Show c.3051_*3068dupGTGTGTGTGTGTGTGTGT	MRRF	ENSG00000148187.18	transcript	ENST00000344641.8	protein_coding	7/7	3069	INFO_REALIGN_3_PRIME	chr9	TogoVar
MRTFA_chr22_40405289_40641719	40459822	C C	CATATACA others(11): Show CATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	256	0.0039	18	c.307 others(35): Show c.307+3398_307+3399insATATATATATATGTATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40459862	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	256	0.0039	18	c.307 others(35): Show c.307+3358_307+3359insGTGTATATATATATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40459862	T T	TATATATA others(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	256	0.0039	18	c.307 others(35): Show c.307+3358_307+3359insGTATATATATATATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40470231	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02293.hp1 HG04199.hp2 others(1): Show HG02155.hp1 HG02293.hp1 HG04199.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001	a0001c0001t0001g0207 a0001c0001t0002g0174 a0001c0001t0003g0150 others(1): Show a0001c0001t0001g0207 a0001c0001t0002g0174 a0001c0001t0003g0150 a0001c0004t0001g0132	4	256	0.0156	18	c.242 others(35): Show c.242-6963_242-6946dupTATATATATATATATATA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40637699	G G	GTGTATAT others(11): Show GTGTATATGTATATGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02257.hp2 HG02165.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0001 a0001c0001t0002 a0001c0015t0001	a0001c0001t0002g0225 a0001c0015t0001g0217 a0001c0001t0002g0225 a0001c0015t0001g0217	2	256	0.0078	18	c.-13 others(29): Show c.-1306_-1305insTATACATATACATATACA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding		981	WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40637705	G G	GTGTATAT others(11): Show GTGTATATGTATATGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01109.hp2 HG02559.hp1 others(10): Show HG00423.hp1 HG01109.hp2 HG02559.hp1 HG02572.hp1 HG02723.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0009 a0001c0012	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001	a0001c0001t0002g0035 a0001c0002t0001g0093 a0001c0002t0001g0110 others(10): Show a0001c0001t0002g0035 a0001c0002t0001g0093 a0001c0002t0001g0110 a0001c0002t0004g0161 a0001c0002t0004g0163 a0001c0008t0001g0089 a0001c0008t0001g0091 a0001c0008t0001g0094 a0001c0009t0001g0115 a0001c0009t0001g0137 a0001c0009t0001g0156 a0001c0012t0001g0002 a0001c0012t0001g0003	13	256	0.0508	18	c.-13 others(29): Show c.-1312_-1311insTATACATATACATATACA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding		987	WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40637705	G G	GTGTATGT others(11): Show GTGTATGTGTATATGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA19090.hp1 NA18961.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0053 a0001c0001t0002g0054	2	256	0.0078	18	c.-13 others(29): Show c.-1312_-1311insTATACATATACACATACA	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding		987	WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFB_chr16_14066319_14271773	14090879	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	240	0.0042	18	c.-64 others(37): Show c.-64+11550_-64+11567dupGTGTGTGTGTGTGTGTGT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14159929	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0094 a0001c0010t0018g0094	1	240	0.0042	18	c.154 others(37): Show c.154+19175_154+19192dupAAAAAAAAAAAAAAAAAA	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14243864	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	240	0.0042	18	c.108 others(37): Show c.1080-1651_1080-1650insTTTTTTTTTTTTTTTTTT	MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A12_chr11_60487778_60512430	60509179	T T	TTTGAACC others(11): Show TTTGAACCCAGGCAGTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	432	0.0023	18	c.20 others(29): Show c.2055_*2056insTTGAACCCAGGCAGTATG	MS4A12	ENSG00000071203.9	transcript	ENST00000016913.8	protein_coding		1750		chr11	TogoVar

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