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 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
MRI1_chr19_13759522_13779282	13767008	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	460	0.0022	20	c.547 others(35): Show c.547+890_547+909dupATATATATATATATATATAT	MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
MRLN_chr10_59731692_59758455	59740776	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	418	0.0024	20	c.-12 others(39): Show c.-124-2234_-124-2215dupGAAAGAAAGAAAGAAAGAAA	MRLN	ENSG00000227877.7	transcript	ENST00000414264.6	protein_coding	1/2			chr10	TogoVar
MRLN_chr10_59731692_59758455	59741999	C C	CCAAAGCA others(13): Show CCAAAGCACTGGGGAGCCACT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	418	0.0024	20	c.-12 others(39): Show c.-124-3457_-124-3438dupAGTGGCTCCCCAGTGCTTTG	MRLN	ENSG00000227877.7	transcript	ENST00000414264.6	protein_coding	1/2			chr10	TogoVar
MRNIP_chr5_179832276_179863817	179843059	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	444	0.0023	20	c.292 others(35): Show c.292-996_292-995insCCCTCCCTTCCTTCCTTCCT	MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	4/6			chr5	TogoVar
MRNIP_chr5_179832276_179863817	179843059	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0093 a0003c0004t0001g0093	1	444	0.0023	20	c.292 others(35): Show c.292-996_292-995insCCCTCCCTCCCTTCCTTCCT	MRNIP	ENSG00000161010.16	transcript	ENST00000292586.11	protein_coding	4/6			chr5	TogoVar
MROH1_chr8_144143016_144266926	144167476	G G	GGAGTGGC others(13): Show GGAGTGGCCGGTTGTTGGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00099.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	140	0.0143	20	c.23- others(33): Show c.23-800_23-781dupTAGAGTGGCCGGTTGTTGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	3/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144195195	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00735.hp1 HG00735.hp2 others(12): Show HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01934.hp1 HG01934.hp2 HG02683.hp2 HG04204.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0001 a0001c0002t0001 a0001c0019t0001 a0001c0001t0001 a0001c0002t0001 a0001c0019t0001	a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0103 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0019t0001g0111	15	140	0.1071	20	c.948 others(37): Show c.948+2799_948+2818dupAAAAAAAAAAAAAAAAAAAA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144203085	G G	GGGGGAGC others(13): Show GGGGGAGCGCCCGCTGTCTGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03098.hp1 HG02280.hp1 HG02559.hp1 HG03098.hp1	a0002 a0002	a0002c0004 a0002c0013 a0002c0004 a0002c0013	a0002c0004t0001 a0002c0013t0001 a0002c0004t0001 a0002c0013t0001	a0002c0004t0001g0004 a0002c0004t0001g0131 a0002c0013t0001g0022 a0002c0004t0001g0004 a0002c0004t0001g0131 a0002c0013t0001g0022	3	140	0.0214	20	c.114 others(39): Show c.1141+2546_1141+2547insGGAGCGCCCGCTGTCTGTGG	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(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02074.hp1 HG00609.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0138 a0001c0002t0001g0076 a0001c0002t0001g0138	2	140	0.0143	20	c.133 others(39): Show c.1339-4241_1339-4222dupTTTTTTTTTTTTTTTTTTTT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH1_chr8_144143016_144266926	144234534	T T	TTTTTTTT others(13): Show TTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	140	0.0071	20	c.133 others(39): Show c.1339-4222_1339-4221insTTTTTTTTTTTTTTTTTTTC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43			chr8	TogoVar
MROH1_chr8_144143016_144266926	144239203	C C	CTCCCCAC others(13): Show CTCCCCACTCCTGCCCCCACT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02630.hp1 HG02083.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0024 a0002c0004 a0001c0024 a0002c0004	a0001c0024t0001 a0002c0004t0001 a0001c0024t0001 a0002c0004t0001	a0001c0024t0001g0105 a0002c0004t0001g0005 a0001c0024t0001g0105 a0002c0004t0001g0005	2	140	0.0143	20	c.159 others(35): Show c.1591+51_1591+70dupCTCCTGCCCCCACTTCCCCA	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	16/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MROH6_chr8_143561192_143577772	143573188	C C	CCCGCCCC others(13): Show CCCGCCCCCTGCACGCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0000 a0000	a0000c0040 a0000c0040	a0000c0040t0019 a0000c0040t0019	a0000c0040t0019g0146 a0000c0040t0019g0146	1	437	0.0023	20	c.-47 others(29): Show c.-475_-474insAGCCAGCGTGCAGGGGGCGG	MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding		417		chr8	TogoVar
MROH7_chr1_54636786_54715266	54699094	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18991.hp1 NA19000.hp2 others(2): Show NA18946.hp2 NA18991.hp1 NA19000.hp2 NA19011.hp2 NA19088.hp2	a0001 a0015 a0001 a0015	a0001c0005 a0015c0021 a0001c0005 a0015c0021	a0001c0005t0001 a0001c0005t0002 a0015c0021t0001 a0001c0005t0001 a0001c0005t0002 a0015c0021t0001	a0001c0005t0001g0019 a0001c0005t0001g0253 a0001c0005t0002g0154 others(2): Show a0001c0005t0001g0019 a0001c0005t0001g0253 a0001c0005t0002g0154 a0015c0021t0001g0280 a0015c0021t0001g0314	5	380	0.0132	20	c.296 others(39): Show c.2965-1179_2965-1160dupCTTTCTTTCTTTCTTTCTTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TTTCTTTC others(13): Show TTTCTTTCCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0019 a0019	a0019c0088 a0019c0088	a0019c0088t0001 a0019c0088t0001	a0019c0088t0001g0016 a0019c0088t0001g0016	1	380	0.0026	20	c.296 others(39): Show c.2965-1160_2965-1159insCTTTCCTTTCTTTCTTTCTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19007.hp1 NA19064.hp2 NA18966.hp1 NA19007.hp1 NA19064.hp2	a0008 a0012 a0014 a0008 a0012 a0014	a0008c0006 a0012c0017 a0014c0014 a0008c0006 a0012c0017 a0014c0014	a0008c0006t0002 a0012c0017t0001 a0014c0014t0001 a0008c0006t0002 a0012c0017t0001 a0014c0014t0001	a0008c0006t0002g0148 a0012c0017t0001g0236 a0014c0014t0001g0327 a0008c0006t0002g0148 a0012c0017t0001g0236 a0014c0014t0001g0327	3	380	0.0079	20	c.296 others(39): Show c.2965-1160_2965-1159insCTTTCTTTCTTTTCTTTCTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TTTCTTTC others(13): Show TTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0003 a0007c0004t0003	a0007c0004t0003g0210 a0007c0004t0003g0210	1	380	0.0026	20	c.296 others(39): Show c.2965-1160_2965-1159insCTTTCTTTTCTTTCTTTCTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH7_chr1_54636786_54715266	54699159	T T	TTTCTTTT others(13): Show TTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01975.hp2 HG01993.hp2 others(1): Show HG01069.hp2 HG01975.hp2 HG01993.hp2 NA19010.hp1	a0007 a0014 a0007 a0014	a0007c0004 a0014c0014 a0007c0004 a0014c0014	a0007c0004t0002 a0007c0004t0003 a0014c0014t0002 a0007c0004t0002 a0007c0004t0003 a0014c0014t0002	a0007c0004t0002g0201 a0007c0004t0003g0205 a0007c0004t0003g0208 others(1): Show a0007c0004t0002g0201 a0007c0004t0003g0205 a0007c0004t0003g0208 a0014c0014t0002g0108	4	380	0.0105	20	c.296 others(39): Show c.2965-1160_2965-1159insCTTTTCTTTCTTTCTTTCTT	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH7_chr1_54636786_54715266	54708417	A A	AAAACAAA others(13): Show AAAACAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG06807.hp2 HG01884.hp2 HG06807.hp2	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0002 a0023c0035t0001 a0023c0035t0002	a0023c0035t0001g0002 a0023c0035t0002g0087 a0023c0035t0001g0002 a0023c0035t0002g0087	2	380	0.0053	20	c.366 others(37): Show c.3668-590_3668-571dupACAAACAAACAAACAAACAA	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH9_chr1_170930534_171069765	170933501	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01884.hp1 HG02257.hp1 others(5): Show HG00558.hp2 HG01884.hp1 HG02257.hp1 HG02572.hp1 HG02647.hp2 NA18959.hp2 NA19070.hp2 NA20300.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0012c0014	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0012c0014t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0003t0001g0107 others(5): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0003t0001g0107 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0098 a0002c0002t0002g0131 a0012c0014t0001g0099	8	226	0.0354	20	c.-21 others(31): Show c.-2124_-2123insAAAGAAAGAAAGAAAGAAAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding		2032		chr1	TogoVar
MROH9_chr1_170930534_171069765	170933501	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03710.hp2 HG01884.hp2 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0220 a0002c0002t0001g0083 a0001c0001t0001g0220 a0002c0002t0001g0083	2	226	0.0089	20	c.-21 others(31): Show c.-2124_-2123insAAAGAAAGAAAGAAGGAAAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding		2032		chr1	TogoVar
MROH9_chr1_170930534_171069765	170970702	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0062 a0001c0004t0004g0062	1	226	0.0044	20	c.481 others(37): Show c.481-1035_481-1016dupTGTGTGTGTGTGTGTGTGTG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MROH9_chr1_170930534_171069765	170970731	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	226	0.0044	20	c.481 others(37): Show c.481-1016_481-1015insTGTGTGTGTGTGTGTGAGAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL14_chr6_44108451_44132452	44127168	A A	ACCCCCCT others(13): Show ACCCCCCTCCCCGTCGGGACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01069.hp2 others(38): Show HG00323.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01167.hp1 HG01256.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp1 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18974.hp2 NA18984.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19080.hp2 NA19086.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0040 a0001c0002t0002g0041 others(22): Show a0001c0002t0002g0005 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154	41	436	0.0940	20	c.-19 others(35): Show c.-19+156_-19+175dupGGTCCCGACGGGGAGGGGGG	MRPL14	ENSG00000180992.7	transcript	ENST00000372014.5	protein_coding	1/2			chr6	TogoVar
MRPL15_chr8_54130241_54153514	54143841	G G	GACACGAG others(13): Show GACACGAGCCTTTGACTGTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	390	0.0026	20	c.553 others(37): Show c.553+1055_553+1056insACACGAGCCTTTGACTGTTC	MRPL15	ENSG00000137547.9	transcript	ENST00000260102.9	protein_coding	4/4			chr8	TogoVar
MRPL17_chr11_6675385_6688340	6676116	T T	TTTTCTTG others(13): Show TTTTCTTGATTTTTTTTTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0022 a0003c0005t0002g0022	1	416	0.0024	20	c.60 others(31): Show c.6001_*6002insTACAAAAAAAAATCAAGAAA	MRPL17	ENSG00000158042.9	transcript	ENST00000288937.7	protein_coding		4268		chr11	TogoVar
MRPL23_chr11_1942332_1961600	1946168	G G	GCCCTGTT others(13): Show GCCCTGTTCCCACCTGCAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	401	0.0025	20	c.-11 others(31): Show c.-1195_-1194insCCCTGTTCCCACCTGCAGGC	MRPL23	ENSG00000214026.11	transcript	ENST00000397298.8	protein_coding		1163		chr11	TogoVar
MRPL27_chr17_50362867_50378184	50362926	C C	CTTTATTT others(13): Show CTTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 NA18522.hp1 HG02027.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0019 a0001c0001t0001g0001 a0001c0001t0004g0019	2	372	0.0054	20	c.51 others(31): Show c.5146_*5165dupTAAATAAATAAATAAATAAA	MRPL27	ENSG00000108826.16	transcript	ENST00000225969.9	protein_coding		4940		chr17	TogoVar
MRPL27_chr17_50362867_50378184	50362955	T T	TTTATTTA others(13): Show TTTATTTATTTATTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(33): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01361.hp1 HG01934.hp1 HG01978.hp1 HG02109.hp2 HG02129.hp1 HG02257.hp2 HG02300.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02970.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18951.hp1 NA18979.hp2 NA18999.hp1 NA19030.hp1 NA19067.hp2 NA19077.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0031	36	372	0.0968	20	c.51 others(31): Show c.5136_*5137insTAAAATAAATAAATAAATAA	MRPL27	ENSG00000108826.16	transcript	ENST00000225969.9	protein_coding		4911		chr17	TogoVar
MRPL27_chr17_50362867_50378184	50362955	T T	TTTATTTA others(13): Show TTTATTTATTTATTTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	20	c.51 others(31): Show c.5136_*5137insTAAATAAAATAAATAAATAA	MRPL27	ENSG00000108826.16	transcript	ENST00000225969.9	protein_coding		4911		chr17	TogoVar
MRPL41_chr9_137546879_137557555	137551605	G G	GGAGACGC others(13): Show GGAGACGCCAGGGACCACCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	20	c.-38 others(29): Show c.-382_-381insGAGACGCCAGGGACCACCGC	MRPL41	ENSG00000182154.8	transcript	ENST00000371443.6	protein_coding		273		chr9	TogoVar
MRPL42_chr12_93462514_93521214	93484979	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18974.hp1 HG00597.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0168 a0001c0001t0018 a0001c0001t0168	a0001c0001t0018g0250 a0001c0001t0168g0249 a0001c0001t0018g0250 a0001c0001t0168g0249	2	388	0.0052	20	c.220 others(37): Show c.220-2488_220-2469dupTATATATATATATATATATA	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(13): Show GCCCCCCCCCCCCACCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	20	c.25 others(31): Show c.2520_*2521insCCCCCCCCCCCCACCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL44_chr2_223952463_223972714	223969554	G G	GCCCCCCC others(13): Show GCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	424	0.0024	20	c.25 others(31): Show c.2520_*2521insCCCCCCCCCCCCCCCCCCCC	MRPL44	ENSG00000135900.4	transcript	ENST00000258383.4	protein_coding		1841		chr2	TogoVar
MRPL47_chr3_179583285_179609638	179598397	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02129.hp2 NA18612.hp1 others(7): Show HG01175.hp1 HG02129.hp2 NA18612.hp1 NA18943.hp1 NA18962.hp2 NA18975.hp1 NA19010.hp1 NA19057.hp1 NA19067.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0099 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0141	10	388	0.0258	20	c.402 others(35): Show c.402+258_402+277dupGTGTGTGTGTGTGTGTGTGT	MRPL47	ENSG00000136522.14	transcript	ENST00000476781.6	protein_coding	4/6			chr3	TogoVar
MRPL48_chr11_73782874_73870133	73825284	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	336	0.0030	20	c.113 others(35): Show c.113-423_113-422insATGTGTGTGTGTGTGTGTGT	MRPL48	ENSG00000175581.14	transcript	ENST00000310614.12	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MRPL52_chr14_22824887_22840037	22825415	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	458	0.0022	20	c.-44 others(31): Show c.-4498_-4497insATATATATATATATATATAT	MRPL52	ENSG00000172590.18	transcript	ENST00000397496.7	protein_coding		4471		chr14	TogoVar
MRPL52_chr14_22824887_22840037	22825425	A A	AATATATA others(13): Show AATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 NA19009.hp2 HG03041.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0025 a0001c0001t0002g0011 a0001c0001t0002g0025	2	458	0.0044	20	c.-44 others(31): Show c.-4488_-4487insATATATATATATATATATAT	MRPL52	ENSG00000172590.18	transcript	ENST00000397496.7	protein_coding		4461		chr14	TogoVar
MRPL52_chr14_22824887_22840037	22825433	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0047 a0002c0002t0007g0047	1	458	0.0022	20	c.-44 others(31): Show c.-4480_-4479insAAAAAAATATATATATATAT	MRPL52	ENSG00000172590.18	transcript	ENST00000397496.7	protein_coding		4453		chr14	TogoVar
MRPL53_chr2_74466982_74477680	74471814	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG03195.hp2 others(1): Show HG02965.hp1 HG02965.hp2 HG03195.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	384	0.0104	20	c.30 others(29): Show c.304_*305insTTTTTTTTTTTTTTTTTTTT	MRPL53	ENSG00000204822.7	transcript	ENST00000258105.8	protein_coding		167		chr2	TogoVar
MRPL9_chr1_151754647_151768496	151760903	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0062 a0004c0005t0001g0062	1	436	0.0023	20	c.589 others(32): Show c.589-24_589-5dupTTTTTTTTTTTTTTTTTTTT	MRPL9	ENSG00000143436.11	transcript	ENST00000368830.8	protein_coding	5/6			chr1	TogoVar
MRPS10_chr6_42201807_42222861	42216359	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19054.hp2 NA19082.hp1 NA19004.hp2 NA19054.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0072 a0001c0002t0003g0073 a0001c0002t0003g0074	3	404	0.0074	20	c.48+ others(35): Show c.48+1423_48+1442dupTCTCTCTCTCTCTCTCTCTC	MRPS10	ENSG00000048544.6	transcript	ENST00000053468.4	protein_coding	1/6			chr6	TogoVar
MRPS23_chr17_57829781_57855044	57851674	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0236 a0001c0001t0056g0236	1	396	0.0025	20	c.-16 others(31): Show c.-1665_-1664insGTGTGTGTGTGTGTGTGTGT	MRPS23	ENSG00000181610.13	transcript	ENST00000313608.13	protein_coding		1631		chr17	TogoVar
MRPS27_chr5_72214403_72325240	72242665	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01884.hp1 HG02145.hp2 HG01433.hp2 HG01884.hp1 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0289 a0002c0002t0002g0292 a0002c0002t0002g0298 a0002c0002t0002g0289 a0002c0002t0002g0292 a0002c0002t0002g0298	3	346	0.0087	20	c.282 others(37): Show c.282-4557_282-4538dupGTGTGTGTGTGTGTGTGTGT	MRPS27	ENSG00000113048.19	transcript	ENST00000261413.10	protein_coding	4/10			chr5	TogoVar
MRPS28_chr8_79913717_80035259	80028645	C C	CGGGCGGG others(13): Show CGGGCGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01261.hp2 HG01978.hp1 others(20): Show HG01071.hp2 HG01261.hp2 HG01978.hp1 HG01993.hp1 HG02040.hp2 HG02056.hp1 HG02273.hp2 HG02698.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03098.hp1 HG03225.hp2 HG03688.hp1 HG03831.hp1 NA18747.hp2 NA18942.hp1 NA18969.hp2 NA18978.hp1 NA18985.hp1 NA19054.hp2 NA19070.hp2 NA19085.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0005c0007	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0005c0007t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(20): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0005t0001g0293 a0003c0003t0001g0285 a0005c0007t0001g0056	23	300	0.0767	20	c.213 others(37): Show c.213+1390_213+1391insCCCCCCCCCCCCCCCCGCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028648	G G	GCGGGGGG others(13): Show GCGGGGGGGGGGGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02258.hp2 others(2): Show HG01081.hp2 HG02055.hp2 HG02258.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(2): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272	5	300	0.0167	20	c.213 others(37): Show c.213+1387_213+1388insGCCCCCCCCCCCCCCCCCCG	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028649	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18949.hp2 NA18960.hp2 HG01261.hp1 NA18949.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014	3	300	0.0100	20	c.213 others(37): Show c.213+1386_213+1387insCGCCCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS28_chr8_79913717_80035259	80028649	C C	CGGGGGGG others(13): Show CGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	300	0.0033	20	c.213 others(37): Show c.213+1386_213+1387insCCCCCCCCCCCCCCCCCCCC	MRPS28	ENSG00000147586.10	transcript	ENST00000276585.9	protein_coding	1/2			chr8	TogoVar
MRPS35_chr12_27705832_27761295	27733030	A A	ATATCTAT others(13): Show ATATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	358	0.0028	20	c.523 others(37): Show c.523-2414_523-2413insCTATCTATCTATCTATCTAT	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(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp1 NA19085.hp2 others(1): Show HG03516.hp2 HG03540.hp1 NA19085.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 others(1): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232	4	409	0.0098	20	c.42+ others(33): Show c.42+609_42+628dupGTGTGTGTGTGTGTGTGTGT	MRPS36	ENSG00000134056.12	transcript	ENST00000256441.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
MRPS6_chr21_34068578_34148030	34068818	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0271 a0001c0001t0001g0272	2	296	0.0068	20	c.-48 others(31): Show c.-4883_-4882insAAAAAAAAAAAAAAAAAAAG	MRPS6	ENSG00000243927.6	transcript	ENST00000399312.3	protein_coding		4759		chr21	TogoVar

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