Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
MRAP_chr21_32293855_32317290	32317161	GGCTTGCA others(19): Show GGCTTGCATGTCCTGAGCACCCGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	1	436	0.0023	-26	c.51 others(37): Show c.5166_*5191delGCTTGCATGTCCTGAGCACCCGGCCC		MRAP	ENSG00000170262.13	transcript	ENST00000303645.10	protein_coding					4872		chr21	TogoVar
MRC1_chr10_17804348_17916164	17827385	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG00639.hp2 HG01081.hp2	a0005 a0005	a0005c0039 a0005c0039	a0005c0039t0002 a0005c0039t0002	a0005c0039t0002g0332 a0005c0039t0002g0333 a0005c0039t0002g0332 a0005c0039t0002g0333	2	364	0.0055	-26	c.464 others(41): Show c.464-153_464-128delAAAAAAAAAAAAAAAAAAAAAAGAAA		MRC1	ENSG00000260314.3	transcript	ENST00000569591.3	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
MRE11_chr11_94410570_94498844	94426414	GAATCAAA others(19): Show GAATCAAATTAACAATTTGTTAATTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0010 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(68): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0002c0002t0009 a0003c0003t0027 a0003c0003t0075 a0004c0010t0012 a0006c0008t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(226): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0228 a0001c0001t0001g0287 a0001c0001t0003g0006 a0001c0001t0003g0036 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0295 a0001c0001t0004g0005 a0001c0001t0004g0032 a0001c0001t0004g0113 a0001c0001t0004g0172 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0233 a0001c0001t0005g0001 a0001c0001t0005g0055 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0074 a0001c0001t0005g0076 a0001c0001t0005g0078 a0001c0001t0005g0081 a0001c0001t0005g0097 a0001c0001t0006g0307 a0001c0001t0008g0031 a0001c0001t0008g0112 a0001c0001t0008g0173 a0001c0001t0008g0175 a0001c0001t0008g0185 a0001c0001t0008g0187 a0001c0001t0008g0243 a0001c0001t0008g0244 a0001c0001t0009g0007 a0001c0001t0009g0220 a0001c0001t0009g0242 a0001c0001t0009g0245 a0001c0001t0010g0035 a0001c0001t0010g0038 a0001c0001t0010g0039 a0001c0001t0010g0249 a0001c0001t0011g0020 a0001c0001t0011g0021 a0001c0001t0011g0060 a0001c0001t0011g0064 a0001c0001t0011g0071 a0001c0001t0012g0003 a0001c0001t0012g0022 a0001c0001t0013g0105 a0001c0001t0013g0139 a0001c0001t0013g0146 a0001c0001t0013g0151 a0001c0001t0013g0157 a0001c0001t0013g0158 a0001c0001t0016g0004 a0001c0001t0016g0134 a0001c0001t0017g0019 a0001c0001t0017g0050 a0001c0001t0017g0051 a0001c0001t0017g0053 a0001c0001t0018g0251 a0001c0001t0018g0315 a0001c0001t0018g0316 a0001c0001t0018g0317 a0001c0001t0019g0046 a0001c0001t0019g0047 a0001c0001t0019g0048 a0001c0001t0019g0049 a0001c0001t0020g0044 a0001c0001t0020g0144 a0001c0001t0020g0313 a0001c0001t0021g0012 a0001c0001t0022g0056 a0001c0001t0022g0057 a0001c0001t0022g0063 a0001c0001t0023g0101 a0001c0001t0023g0102 a0001c0001t0023g0103 a0001c0001t0024g0143 a0001c0001t0024g0193 a0001c0001t0024g0195 a0001c0001t0025g0030 a0001c0001t0025g0171 a0001c0001t0026g0037 a0001c0001t0026g0235 a0001c0001t0029g0088 a0001c0001t0029g0089 a0001c0001t0031g0180 a0001c0001t0031g0184 a0001c0001t0032g0045 a0001c0001t0032g0247 a0001c0001t0033g0054 a0001c0001t0033g0079 a0001c0001t0034g0067 a0001c0001t0034g0085 a0001c0001t0035g0083 a0001c0001t0035g0084 a0001c0001t0036g0319 a0001c0001t0036g0320 a0001c0001t0037g0314 a0001c0001t0038g0248 a0001c0001t0041g0104 a0001c0001t0042g0156 a0001c0001t0043g0222 a0001c0001t0046g0221 a0001c0001t0047g0183 a0001c0001t0049g0136 a0001c0001t0050g0130 a0001c0001t0051g0091 a0001c0001t0052g0096 a0001c0001t0053g0058 a0001c0001t0054g0128 a0001c0001t0055g0137 a0001c0001t0060g0095 a0001c0001t0061g0207 a0001c0001t0062g0135 a0001c0001t0063g0186 a0001c0001t0064g0052 a0001c0001t0065g0191 a0001c0001t0067g0216 a0001c0001t0068g0241 a0001c0001t0069g0218 a0001c0001t0071g0170 a0001c0001t0073g0219 a0001c0001t0074g0077 a0001c0001t0076g0174 a0001c0001t0077g0072 a0001c0001t0078g0070 a0001c0001t0079g0080 a0001c0001t0080g0066 a0001c0001t0081g0087 a0001c0001t0082g0223 a0001c0001t0083g0082 a0001c0001t0084g0225 a0001c0001t0085g0065 a0001c0001t0086g0073 a0002c0002t0009g0300 a0003c0003t0027g0016 a0003c0003t0075g0239 a0004c0010t0012g0086 a0006c0008t0001g0167	278	394	0.7056	-26	c.207 others(45): Show c.2070+3471_2070+3496delTAAATTAACAAATTGTTAATTTGATT		MRE11	ENSG00000020922.13	transcript	ENST00000323929.8	protein_coding	19/19						chr11	TogoVar
MRGBP_chr20_62791473_62806729	62802709	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp2 HG01167.hp2 others(14): Show HG01106.hp2 HG01123.hp2 HG01167.hp2 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0026 a0001c0001t0002 a0001c0001t0026	a0001c0001t0002g0003 a0001c0001t0026g0003 a0001c0001t0002g0003 a0001c0001t0026g0003	17	410	0.0415	-26	c.30 others(37): Show c.3067_*3092delTGTGTGTGTGTGTGTGTGTGTGTGTG		MRGBP	ENSG00000101189.7	transcript	ENST00000370487.5	protein_coding					981		chr20	TogoVar
MRI1_chr19_13759522_13779282	13767025	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0317 a0001c0001t0017g0317	1	460	0.0022	-26	c.547 others(41): Show c.547+898_547+923delATATATATATATTTTTTTTTTTTTTT		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
MRI1_chr19_13759522_13779282	13773621	CCCATCTC others(19): Show CCCATCTCTTTAAAAAAAAAAAAAAAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0033 a0009c0012t0033	a0009c0012t0033g0182 a0009c0012t0033g0182	1	460	0.0022	-26	c.13 others(37): Show c.1345_*1370delCTCTTTAAAAAAAAAAAAAAATCCAT		MRI1	ENSG00000037757.14	transcript	ENST00000040663.8	protein_coding	6/6				1345	INFO_REALIGN_3_PRIME	chr19	TogoVar
MRM2_chr7_2229195_2247205	2238977	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp2 others(23): Show HG00099.hp1 HG00280.hp2 HG00639.hp2 HG00673.hp1 HG01346.hp2 HG01496.hp1 HG01978.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA18979.hp2 NA19007.hp2 NA19043.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0006 a0001c0001 a0001c0003 a0005c0006	a0001c0001t0001 a0001c0001t0016 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0003t0007 a0005c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0179 a0001c0001t0016g0082 a0001c0003t0007g0025 a0001c0003t0007g0079 a0005c0006t0001g0078	26	430	0.0605	-26	c.298 others(41): Show c.298+415_298+440delTATATATATATATATATATATATATA		MRM2	ENSG00000122687.19	transcript	ENST00000242257.14	protein_coding	2/2						chr7	TogoVar
MROH1_chr8_144143016_144266926	144232690	TCACCGTG others(19): Show TCACCGTGTTAGCTAGGATGGTCTCGA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 HG02647.hp2 HG01175.hp1 HG02055.hp1 HG02647.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0018 a0002c0006 a0004c0018	a0002c0006t0001 a0004c0018t0001 a0002c0006t0001 a0004c0018t0001	a0002c0006t0001g0014 a0002c0006t0001g0015 a0004c0018t0001g0017 a0002c0006t0001g0014 a0002c0006t0001g0015 a0004c0018t0001g0017	3	140	0.0214	-26	c.133 others(45): Show c.1339-6065_1339-6040delCACCGTGTTAGCTAGGATGGTCTCGA		MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	14/43						chr8	TogoVar
MROH9_chr1_170930534_171069765	171044972	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02486.hp1 HG02630.hp2 others(7): Show HG01255.hp2 HG02486.hp1 HG02630.hp2 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp2 HG03516.hp2 HG03688.hp1 NA19043.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0013	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0005c0007 a0010c0013 a0013c0016	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0004 a0005c0007t0002 a0010c0013t0001 a0013c0016t0001	a0001c0001t0001g0219 a0001c0003t0001g0007 a0001c0003t0001g0226 others(7): Show a0001c0001t0001g0219 a0001c0003t0001g0007 a0001c0003t0001g0226 a0001c0009t0001g0089 a0001c0009t0001g0162 a0002c0002t0001g0084 a0002c0002t0004g0122 a0005c0007t0002g0209 a0010c0013t0001g0210 a0013c0016t0001g0208	10	226	0.0443	-26	c.228 others(47): Show c.2282-17138_2282-17113delTTTTTTTTTTTTTTTTTTTTTTTT TT		MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL21_chr11_68886278_68908832	68906639	TCTTTTTT others(19): Show TCTTTTTTTTTTTTTTTTTTTGAGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	395	0.0025	-26	c.-28 others(37): Show c.-2855_-2830delTGTCTCAAAAAAAAAAAAAAAAAAAG		MRPL21	ENSG00000197345.13	transcript	ENST00000362034.7	protein_coding					2808		chr11	TogoVar
MRPL28_chr16_361969_375538	368347	TGCTTCTC others(19): Show TGCTTCTCAATGGCCTCCTCCAGCGTG	T T	frameshift_variant frameshift_variant	HIGH	HG03139.hp2 HG03139.hp2	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0001 a0000c0014t0001	a0000c0014t0001g0113 a0000c0014t0001g0113	1	394	0.0025	-26	c.618 others(33): Show c.618_643delCACGCTGGAGGAGGCCATTGAGAAGC	p.Thr others(5): Show p.Thr207fs	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	5/6	690/1524	618/771	206/256			chr16	TogoVar
MRPL42_chr12_93462514_93521214	93485982	TGTTTTTA others(19): Show TGTTTTTAAATTTTTTGTAGAGATGAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 NA19043.hp2 HG02922.hp1 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146	a0001c0001t0144g0116 a0001c0001t0145g0117 a0001c0001t0146g0115 a0001c0001t0144g0116 a0001c0001t0145g0117 a0001c0001t0146g0115	3	388	0.0077	-26	c.220 others(43): Show c.220-1490_220-1465delAGGTTTTTAAATTTTTTGTAGAGATG		MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
MRPL43_chr10_100981269_100992497	100990059	TTTGGGAG others(19): Show TTTGGGAGGCTGAGGTGGGAGGATCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-26	c.-26 others(37): Show c.-2642_-2617delGTGATCCTCCCACCTCAGCCTCCCAA		MRPL43	ENSG00000055950.17	transcript	ENST00000318364.13	protein_coding					2563		chr10	TogoVar
MRPL45_chr17_38292168_38328211	38313359	TATATATA others(19): Show TATATATACGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	287	0.0035	-26	c.462 others(43): Show c.462-5320_462-5295delCGTATATATATATATATACATATATA		MRPL45	ENSG00000278845.5	transcript	ENST00000613675.5	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
MRPS27_chr5_72214403_72325240	72221889	CTCCTGGA others(19): Show CTCCTGGAGAAGTAAGTATTAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00642.hp2 others(26): Show HG00099.hp1 HG00280.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp1 HG01934.hp1 HG02683.hp1 HG03490.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0002 a0003c0006t0002 a0002c0003t0002 a0003c0006t0002	a0002c0003t0002g0096 a0002c0003t0002g0097 a0002c0003t0002g0100 others(26): Show a0002c0003t0002g0096 a0002c0003t0002g0097 a0002c0003t0002g0100 a0002c0003t0002g0150 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0194 a0002c0003t0002g0254 a0002c0003t0002g0269 a0002c0003t0002g0270 a0002c0003t0002g0275 a0002c0003t0002g0277 a0003c0006t0002g0168 a0003c0006t0002g0169	29	346	0.0838	-26	c.100 others(43): Show c.1006-767_1006-742delTGTTTTTAATACTTACTTCTCCAGGA		MRPS27	ENSG00000113048.19	transcript	ENST00000261413.10	protein_coding	10/10						chr5	TogoVar
MRPS2_chr9_135495682_135509671	135506651	CAACCCTC others(19): Show CAACCCTCCCTGGGTGTGTGGGGGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-26	c.25 others(37): Show c.2519_*2544delAACCCTCCCTGGGTGTGTGGGGGGAG		MRPS2	ENSG00000122140.13	transcript	ENST00000241600.10	protein_coding					1981		chr9	TogoVar
MRPS31_chr13_40724128_40776190	40769373	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02615.hp2 HG03195.hp1 others(1): Show HG01981.hp2 HG02615.hp2 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0279	4	404	0.0099	-26	c.152 others(43): Show c.152+1586_152+1611delATATATATATATATATATATATATAT		MRPS31	ENSG00000102738.8	transcript	ENST00000323563.8	protein_coding	1/6						chr13	TogoVar
MRTFA_chr22_40405289_40641719	40457423	TGAAAGAA others(19): Show TGAAAGAAAGAAAGAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG03225.hp1 others(3): Show HG02109.hp2 HG02615.hp2 HG03225.hp1 NA18950.hp1 NA18960.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0041 others(3): Show a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0041 a0001c0002t0001g0255 a0001c0003t0001g0008 a0001c0003t0001g0009	6	256	0.0234	-26	c.307 others(43): Show c.307+5772_307+5797delTTTCTTTCTTTCTCTTTCTTTCTTTC		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	4/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40470229	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0073	1	256	0.0039	-26	c.242 others(43): Show c.242-6969_242-6944delTATATATATATATATATATATATAAA		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40470231	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0169 a0001c0003t0003g0169	1	256	0.0039	-26	c.242 others(43): Show c.242-6971_242-6946delTATATATATATATATATATATATATA		MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14					WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFB_chr16_14066319_14271773	14127915	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01515.hp1 HG01516.hp1 others(16): Show HG01074.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02622.hp2 HG02723.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03710.hp2 HG06807.hp2 NA18522.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0006 a0001c0001t0008 a0001c0003t0003 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0003t0003 a0001c0010t0018	a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0008g0109 others(16): Show a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0010t0018g0094	19	240	0.0792	-26	c.-63 others(45): Show c.-63-12627_-63-12602delATATATATATATATTTTTTTTTTTTT		MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
MRTFB_chr16_14066319_14271773	14127917	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02280.hp1 HG02647.hp1 others(11): Show HG00639.hp2 HG02280.hp1 HG02647.hp1 HG02647.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033	a0001c0001t0003g0082 a0001c0001t0004g0095 a0001c0001t0004g0096 others(11): Show a0001c0001t0003g0082 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0025g0232 a0001c0001t0027g0098 a0001c0001t0028g0233 a0001c0001t0029g0231 a0001c0001t0033g0081	14	240	0.0583	-26	c.-63 others(45): Show c.-63-12625_-63-12600delATATATATATATTTTTTTTTTTTTTT		MRTFB	ENSG00000186260.17	transcript	ENST00000571589.6	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr16	TogoVar
MS4A6E_chr11_60322255_60346341	60342168	TGTGTGTG others(19): Show TGTGTGTGTGTGAGAGAGAGAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	450	0.0022	-26	c.14 others(37): Show c.1403_*1428delGTGTGTGTGTGAGAGAGAGAGAGAGA		MS4A6E	ENSG00000166926.9	transcript	ENST00000684409.1	protein_coding					828		chr11	TogoVar
MSH3_chr5_80649652_80881815	80692211	CATGTATA others(19): Show CATGTATATGTTTAGATAGATAAACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00738.hp2 others(2): Show HG00099.hp1 HG00323.hp2 HG00738.hp2 HG01261.hp2 NA19043.hp1	a0002 a0005 a0008 a0002 a0005 a0008	a0002c0003 a0005c0006 a0008c0010 a0002c0003 a0005c0006 a0008c0010	a0002c0003t0012 a0005c0006t0003 a0008c0010t0009 a0002c0003t0012 a0005c0006t0003 a0008c0010t0009	a0002c0003t0012g0356 a0005c0006t0003g0347 a0005c0006t0003g0352 others(2): Show a0002c0003t0012g0356 a0005c0006t0003g0347 a0005c0006t0003g0352 a0005c0006t0003g0354 a0008c0010t0009g0353	5	362	0.0138	-26	c.134 others(47): Show c.1340+13119_1340+13144delATGTATATGTTTAGATAGATAAAC AT		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23						chr5	TogoVar
MSH3_chr5_80649652_80881815	80693390	GATATACA others(19): Show GATATACATGCACATGTATATGTTTAT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0183 a0001c0001t0005g0183	1	362	0.0028	-26	c.134 others(47): Show c.1340+14301_1340+14326delTACATGCACATGTATATGTTTATA TA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80869805	CATATATA others(19): Show CATATATACATATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0034 a0034	a0034c0030 a0034c0030	a0034c0030t0009 a0034c0030t0009	a0034c0030t0009g0219 a0034c0030t0009g0219	1	362	0.0028	-26	c.313 others(45): Show c.3131-3309_3131-3284delTATATACATATATATATACATATATA		MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	22/23					INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH4_chr1_75791882_75918242	75902673	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01074.hp1 others(15): Show HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01952.hp1 HG01981.hp1 HG02109.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0007	a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0046 others(15): Show a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0046 a0001c0004t0001g0047 a0001c0004t0001g0050 a0001c0004t0001g0057 a0001c0004t0001g0059 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0004t0002g0051 a0001c0004t0002g0052 a0001c0004t0002g0056 a0001c0004t0002g0058 a0001c0004t0002g0076 a0001c0004t0007g0045	18	332	0.0542	-26	c.261 others(45): Show c.2619+3004_2619+3029delTATATATATATATATATATATATATA		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH6_chr2_47778145_47811953	47788900	CTTCTTCC others(19): Show CTTCTTCCTTTTTTTTTTTTTTGTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02723.hp2 HG02895.hp2 others(1): Show HG00738.hp1 HG02723.hp2 HG02895.hp2 HG03654.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0001 a0001c0004t0001 a0001c0007t0001	a0001c0004t0001g0343 a0001c0007t0001g0200 a0001c0007t0001g0202 others(1): Show a0001c0004t0001g0343 a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0203	4	390	0.0103	-26	c.261 others(43): Show c.261-2024_261-1999delCTTCCTTTTTTTTTTTTTTGTTTTTT		MSH6	ENSG00000116062.19	transcript	ENST00000234420.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
MSI2_chr17_57251523_57689689	57406366	CTTCAGGC others(19): Show CTTCAGGCCCCTCCTTCAAGTACCGGT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0005 a0001c0001t0065g0005	1	168	0.0060	-26	c.405 others(43): Show c.405+4899_405+4924delAGGCCCCTCCTTCAAGTACCGGTTTC		MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
MSI2_chr17_57251523_57689689	57477145	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02572.hp1 others(1): Show HG01256.hp1 HG01258.hp2 HG02572.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0017 a0001c0001t0096 a0001c0001t0012 a0001c0001t0017 a0001c0001t0096	a0001c0001t0012g0089 a0001c0001t0017g0166 a0001c0001t0017g0167 others(1): Show a0001c0001t0012g0089 a0001c0001t0017g0166 a0001c0001t0017g0167 a0001c0001t0096g0033	4	168	0.0238	-26	c.406 others(45): Show c.406-52500_406-52475delGTGTGTGTGTGTGTGTGTGTGTGTGT		MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
MSI2_chr17_57251523_57689689	57507223	CTCTGTGT others(19): Show CTCTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	168	0.0060	-26	c.406 others(45): Show c.406-22451_406-22426delCTGTGTGTGTGTGTGTGTGTGTGTGT		MSI2	ENSG00000153944.12	transcript	ENST00000284073.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
MSL1_chr17_40116971_40141917	40118718	CATATACA others(19): Show CATATACATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	356	0.0028	-26	c.-38 others(37): Show c.-3894_-3869delATATACATATATATATATATATATAT		MSL1	ENSG00000188895.12	transcript	ENST00000398532.9	protein_coding					3252		chr17	TogoVar
MSLN_chr16_755734_773862	768732	GAGGGCCC others(19): Show GAGGGCCCCACTCCCTTGCTGGCCCCA	G G	frameshift_variant others(1): Show frameshift_variant stop_lost	HIGH	HG01192.hp2 HG01192.hp2	a0000 a0000	a0000c0039 a0000c0039	a0000c0039t0008 a0000c0039t0008	a0000c0039t0008g0146 a0000c0039t0008g0146	1	388	0.0026	-26	c.186 others(34): Show c.1869_*25delAGGGCCCCACTCCCTTGCTGGCCCCA	p.Ter others(5): Show p.Ter623fs	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	18/18	2068/2197	1869/1869	623/622			chr16	TogoVar
MSMP_chr9_35747990_35759276	35749035	CAGGCACC others(19): Show CAGGCACCGCCCCGGGACGGGCCCGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-26	c.40 others(37): Show c.4039_*4064delTGCGGGCCCGTCCCGGGGCGGTGCCT		MSMP	ENSG00000215183.5	transcript	ENST00000436428.3	protein_coding					3954		chr9	TogoVar
MSN_chrX_65662654_65746931	65670896	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	170	0.0059	-26	c.12+ others(41): Show c.12+3077_12+3102delATATATATATATATATATATATATAT		MSN	ENSG00000147065.18	transcript	ENST00000360270.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
MSRA_chr8_10049292_10433891	10074058	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02647.hp2 HG02055.hp1 HG02486.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0001g0030 a0001c0001t0004g0029 a0001c0001t0004g0031	3	286	0.0105	-26	c.142 others(45): Show c.142+19415_142+19440delTTTTTTTTTTTTTTTTTTTTTTTTTT		MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRA_chr8_10049292_10433891	10358565	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02056.hp2 NA18950.hp2 others(1): Show HG02055.hp2 HG02056.hp2 NA18950.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0143 a0001c0001t0003g0026 a0001c0001t0003g0251 others(1): Show a0001c0001t0001g0143 a0001c0001t0003g0026 a0001c0001t0003g0251 a0001c0001t0008g0219	4	286	0.0140	-26	c.543 others(45): Show c.543+38596_543+38621delTTTTTTTTTTTTTTTTTTTTTTTTTT		MSRA	ENSG00000175806.15	transcript	ENST00000317173.9	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
MSRB3_chr12_65273683_65471907	65396698	AAAAAAAA others(19): Show AAAAAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02622.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006	4	312	0.0128	-26	c.292 others(45): Show c.292+27676_292+27701delAAAAAAGAAAGAAAGAAAGAAAGAAA		MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65422406	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0309 a0001c0002t0008g0309	1	312	0.0032	-26	c.293 others(45): Show c.293-31318_293-31293delATATATATATATATATATATATTTAT		MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
MT4_chr16_56560073_56573957	56568223	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 HG01515.hp1 others(1): Show HG00280.hp2 HG01069.hp2 HG01515.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0311 a0001c0001t0001g0349 others(1): Show a0001c0001t0001g0253 a0001c0001t0001g0311 a0001c0001t0001g0349 a0001c0001t0001g0350	4	428	0.0094	-26	c.97+ others(39): Show c.97+409_97+434delAAGAAAGAAAGAAAGAAAGAAAGAAA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568227	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01496.hp1 HG01515.hp2 others(5): Show HG00423.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02257.hp1 HG03225.hp1 NA18961.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0248 a0001c0001t0001g0251 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0325 a0001c0001t0001g0348	8	428	0.0187	-26	c.97+ others(39): Show c.97+413_97+438delAAGAAAGAAAGAAAGAAAGAAAGAAA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568231	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	428	0.0023	-26	c.97+ others(39): Show c.97+417_97+442delAAGAAAGAAAGAAAGAAAGAAAGAAA		MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
MTA3_chr2_42563632_42761946	42586557	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00741.hp2 others(43): Show HG00099.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01168.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03831.hp2 HG04228.hp2 NA18945.hp1 NA18956.hp2 NA18964.hp2 NA18977.hp2 NA18989.hp2 NA19043.hp2 NA19074.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0002c0002t0004 a0002c0002t0011	a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0129 others(43): Show a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0021 a0001c0001t0002g0156 a0001c0001t0002g0163 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0211 a0001c0001t0002g0263 a0001c0001t0003g0296 a0001c0001t0004g0275 a0001c0001t0005g0022 a0001c0001t0005g0133 a0001c0001t0005g0254 a0001c0001t0006g0227 a0001c0001t0006g0269 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0007g0049 a0001c0001t0007g0072 a0001c0001t0008g0243 a0001c0001t0010g0267 a0002c0002t0004g0272 a0002c0002t0011g0270	46	312	0.1474	-26	c.190 others(43): Show c.190+7391_190+7416delCACACACACACACACACACACACACA		MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
MTCL1_chr18_8700556_8837778	8726492	AGAGCGCG others(19): Show AGAGCGCGCGCGCGCGCAAGAGCGAGC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19030.hp1 HG02559.hp1 NA19030.hp1	a0003 a0032 a0003 a0032	a0003c0120 a0032c0107 a0003c0120 a0032c0107	a0003c0120t0001 a0032c0107t0001 a0003c0120t0001 a0032c0107t0001	a0003c0120t0001g0038 a0032c0107t0001g0300 a0003c0120t0001g0038 a0032c0107t0001g0300	2	336	0.0060	-26	c.143 others(45): Show c.1437+6000_1437+6025delCGCGCGCGCGCGCAAGAGCGAGCGAG		MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr18	TogoVar
MTCL1_chr18_8700556_8837778	8729673	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0019 a0019	a0019c0131 a0019c0131	a0019c0131t0001 a0019c0131t0001	a0019c0131t0001g0061 a0019c0131t0001g0061	1	336	0.0030	-26	c.143 others(45): Show c.1437+9212_1437+9237delATATATATATATATATATATATATAT		MTCL1	ENSG00000168502.18	transcript	ENST00000695636.1	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr18	TogoVar
MTDH_chr8_97639184_97735260	97682230	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18612.hp2 NA18747.hp2 others(12): Show HG00408.hp2 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18980.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA19058.hp2 NA19065.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0064 a0001c0001t0088	a0001c0001t0001g0032 a0001c0001t0001g0096 a0001c0001t0004g0278 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0096 a0001c0001t0004g0278 a0001c0001t0004g0284 a0001c0001t0004g0291 a0001c0001t0004g0307 a0001c0001t0004g0309 a0001c0001t0004g0323 a0001c0001t0004g0351 a0001c0001t0010g0338 a0001c0001t0017g0037 a0001c0001t0017g0038 a0001c0001t0017g0039 a0001c0001t0064g0285 a0001c0001t0088g0019	15	370	0.0405	-26	c.484 others(43): Show c.484-4412_484-4387delATATATATATATATATATATATATAT		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTDH_chr8_97639184_97735260	97682258	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	370	0.0027	-26	c.484 others(43): Show c.484-4408_484-4383delATATATATATATATATATATATTTTT		MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
MTFR1_chr8_65639734_65715562	65713439	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	348	0.0029	-26	c.43 others(37): Show c.4396_*4421delACACACACACACACACACACACACAC		MTFR1	ENSG00000066855.16	transcript	ENST00000262146.9	protein_coding					2878		chr8	TogoVar
MTG2_chr20_62178028_62208568	62204369	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0278 a0001c0001t0006g0278	1	412	0.0024	-26	c.32 others(37): Show c.3293_*3318delGTGTGTGTGTGTGTGTGTGTGTGAGA		MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding					802		chr20	TogoVar
MTG2_chr20_62178028_62208568	62204371	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	412	0.0024	-26	c.32 others(37): Show c.3295_*3320delGTGTGTGTGTGTGTGTGTGTGAGAGA		MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding					804		chr20	TogoVar

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