Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MC5R_chr18_13819149_13832323	13823328	A A	ACCCACCC others(98): Show ACCCACCCACCCACCGACCCAACCAACTAACCAACCAAGCAACCACCCAC CCAACCACCCATCCACCCACCCACTGACCCAACCAACCAACCAACCACCC AACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01358.hp1 HG01257.hp2 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	432	0.0046	105	c.-98 others(114): Show c.-986_-985insCCCACCCACCCACCGACCCAACCAACTAACCAACCA AGCAACCACCCACCCAACCACCCATCCACCCACCCACTGACCCAACCAAC CAACCAACCACCCAACCAC	MC5R	ENSG00000176136.6	transcript	ENST00000589410.2	protein_coding		820		chr18	TogoVar
MC5R_chr18_13819149_13832323	13823328	A A	ACCCACCC others(98): Show ACCCACCCACCCACCGACCCAACCAACTAACCAACCAAGCAACCACTCAC CCAACCACCCATCCACCCACCCACCGACCCAACCAACCAACCAACCACCC AACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG00639.hp2 others(37): Show HG00323.hp1 HG00597.hp2 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp2 HG01346.hp2 HG02258.hp1 HG02523.hp1 HG02523.hp2 HG02895.hp1 HG03139.hp2 HG03491.hp2 HG03704.hp1 NA18943.hp1 NA18946.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18971.hp1 NA18975.hp2 NA18980.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19077.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0003g0021 a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0003g0021	40	432	0.0926	105	c.-98 others(114): Show c.-986_-985insCCCACCCACCCACCGACCCAACCAACTAACCAACCA AGCAACCACTCACCCAACCACCCATCCACCCACCCACCGACCCAACCAAC CAACCAACCACCCAACCAC	MC5R	ENSG00000176136.6	transcript	ENST00000589410.2	protein_coding		820		chr18	TogoVar
MEGF6_chr1_3482951_3616508	3493338	G G	GCTATCCT others(98): Show GCTATCCTCAGGTGAGCCCCTCCTATCCTCAGGTGGGTCCCTCCTATCCT CAGGTGGGTCCCTCCTATCCTCAGGTGAGCCCCTGCTATCCTCAGGTGAG CCCCTC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0064 a0011c0011t0064	a0011c0011t0064g0292 a0011c0011t0064g0292	1	292	0.0034	105	c.438 others(122): Show c.4387+432_4387+433insGAGGGGCTCACCTGAGGATAGCAGGGGC TCACCTGAGGATAGGAGGGACCCACCTGAGGATAGGAGGGACCCACCTGA GGATAGGAGGGGCTCACCTGAGGATAG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	34/36			chr1	TogoVar
MICAL2_chr11_12105590_12268785	12185126	T T	TGGATGAA others(98): Show TGGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGGGGGATG GGGGGGATGGATGGGTGGGGGGATGGGTGGGTGGGGGGATGGATGGGTGG GTGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18972.hp1 NA19010.hp2 NA18952.hp1 NA18972.hp1 NA19010.hp2	a0004 a0007 a0004 a0007	a0004c0056 a0007c0025 a0004c0056 a0007c0025	a0004c0056t0001 a0007c0025t0001 a0004c0056t0001 a0007c0025t0001	a0004c0056t0001g0034 a0007c0025t0001g0193 a0007c0025t0001g0297 a0004c0056t0001g0034 a0007c0025t0001g0193 a0007c0025t0001g0297	3	358	0.0084	105	c.265 others(124): Show c.265-19122_265-19121insATGAATGGATGGATGGATGGATGGAT GGATGGATGGATGGGGGGATGGGGGGGATGGATGGGTGGGGGGATGGGTG GGTGGGGGGATGGATGGGTGGGTGGGAGG	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MICAL2_chr11_12105590_12268785	12185126	T T	TGGATGGA others(98): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGGGGATG GGGGGGATGGATGGGTGGGGGGATGGGTGGGTGGGGGGATGGATGGGTGG GTGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00609.hp1 others(94): Show HG00408.hp1 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02738.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0010 a0015 a0019	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0014 a0001c0036 a0001c0041 a0001c0051 a0002c0021 a0003c0017 a0006c0039 a0010c0022 a0015c0040 a0019c0052	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0011t0001 a0001c0011t0002 a0001c0012t0001 a0001c0014t0001 a0001c0036t0001 a0001c0041t0001 a0001c0051t0001 a0002c0021t0001 a0003c0017t0001 a0006c0039t0001 a0010c0022t0001 a0010c0022t0002 a0015c0040t0002 a0019c0052t0001	a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0110 others(94): Show a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0110 a0001c0001t0001g0123 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0003g0064 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0038 a0001c0002t0001g0050 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0091 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0001g0160 a0001c0002t0001g0164 a0001c0002t0001g0172 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0195 a0001c0002t0001g0259 a0001c0002t0001g0264 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0292 a0001c0002t0001g0312 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0002g0260 a0001c0002t0003g0092 a0001c0002t0003g0131 a0001c0002t0003g0154 a0001c0003t0001g0007 a0001c0003t0001g0077 a0001c0003t0001g0089 a0001c0003t0001g0102 a0001c0003t0001g0132 a0001c0003t0001g0139 a0001c0003t0001g0147 a0001c0003t0001g0199 a0001c0003t0001g0274 a0001c0003t0001g0279 a0001c0003t0001g0285 a0001c0003t0001g0293 a0001c0003t0001g0305 a0001c0003t0001g0323 a0001c0003t0001g0324 a0001c0003t0001g0325 a0001c0003t0002g0099 a0001c0003t0002g0224 a0001c0004t0001g0004 a0001c0004t0001g0159 a0001c0004t0001g0238 a0001c0004t0001g0239 a0001c0005t0001g0291 a0001c0006t0001g0049 a0001c0006t0001g0073 a0001c0006t0001g0083 a0001c0006t0001g0114 a0001c0006t0001g0127 a0001c0006t0001g0253 a0001c0006t0001g0283 a0001c0006t0001g0302 a0001c0006t0001g0303 a0001c0006t0002g0242 a0001c0006t0003g0270 a0001c0007t0001g0179 a0001c0011t0001g0137 a0001c0011t0001g0155 a0001c0011t0001g0343 a0001c0011t0001g0353 a0001c0011t0002g0097 a0001c0012t0001g0030 a0001c0012t0001g0069 a0001c0014t0001g0042 a0001c0036t0001g0061 a0001c0041t0001g0036 a0001c0051t0001g0337 a0002c0021t0001g0215 a0003c0017t0001g0347 a0006c0039t0001g0205 a0010c0022t0001g0103 a0010c0022t0002g0170 a0015c0040t0002g0012 a0019c0052t0001g0013	97	358	0.2710	105	c.265 others(124): Show c.265-19122_265-19121insATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGGGGGATGGGGGGGATGGATGGGTGGGGGGATGGGTG GGTGGGGGGATGGATGGGTGGGTGGGAGG	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MICAL2_chr11_12105590_12268785	12185126	T T	TGGGTGGA others(98): Show TGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGGGGATG GGGGGGATGGATGGGTGGGGGGATGGGTGGGTGGGGGGATGGATGGGTGG GTGGGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(55): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG01192.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03486.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18967.hp2 NA18974.hp2 NA18982.hp2 NA18985.hp1 NA18988.hp2 NA18993.hp1 NA18998.hp2 NA19003.hp2 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19084.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0002c0015 a0002c0021 a0006c0023	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0008t0001 a0001c0008t0003 a0001c0011t0001 a0001c0014t0001 a0002c0015t0001 a0002c0021t0001 a0006c0023t0002	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(55): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0307 a0001c0001t0001g0316 a0001c0001t0001g0332 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0220 a0001c0002t0001g0046 a0001c0002t0001g0256 a0001c0003t0002g0024 a0001c0005t0001g0126 a0001c0006t0001g0263 a0001c0006t0002g0087 a0001c0007t0001g0029 a0001c0007t0001g0203 a0001c0008t0001g0168 a0001c0008t0001g0171 a0001c0008t0001g0181 a0001c0008t0001g0300 a0001c0008t0003g0067 a0001c0008t0003g0190 a0001c0011t0001g0330 a0001c0014t0001g0288 a0001c0014t0001g0315 a0002c0015t0001g0104 a0002c0015t0001g0156 a0002c0015t0001g0173 a0002c0015t0001g0310 a0002c0015t0001g0313 a0002c0015t0001g0314 a0002c0021t0001g0298 a0006c0023t0002g0213	58	358	0.1620	105	c.265 others(124): Show c.265-19118_265-19117insATGGATGGATGGATGGATGGATGGAT GGATGGATGGGGGGATGGGGGGGATGGATGGGTGGGGGGATGGGTGGGTG GGGGGATGGATGGGTGGGTGGGAGGGTGG	MICAL2	ENSG00000133816.19	transcript	ENST00000683283.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
MLPH_chr2_237482251_237560322	237543527	G G	GGGCACGG others(98): Show GGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCA AGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0023 a0023	a0023c0051 a0023c0051	a0023c0051t0001 a0023c0051t0001	a0023c0051t0001g0071 a0023c0051t0001g0071	1	286	0.0035	105	c.153 others(122): Show c.1539+870_1539+871insCACGGTGGTGAGTGGAGGGGACAGTGGT GAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543717	G G	GGGCACGG others(98): Show GGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGCA AGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	286	0.0035	105	c.153 others(124): Show c.1539+1060_1539+1061insCACGGTGGTGAGTGGAGGGGACAGTG GTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGAGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543872	G G	GAGGGACA others(98): Show GAGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTG AGTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0005 a0006c0006t0005	a0006c0006t0005g0020 a0006c0006t0005g0020	1	286	0.0035	105	c.153 others(124): Show c.1539+1213_1539+1214insAGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGG GATGGTGAGTGGGCACGGTGGTGAGTGGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MON2_chr12_62461826_62605476	62534542	A A	AAAAAAAA others(98): Show AAAAAAAAAAATATATATATATATATATATATATATATATATTTTATATA TATATATATATTTTATATATATATATATTTTATATATATATATATATTTT ATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0025 a0001c0002t0035g0025	1	368	0.0027	105	c.163 others(122): Show c.1634-302_1634-301insAAAAAAAAATATATATATATATATATAT ATATATATATATTTTATATATATATATATATTTTATATATATATATATTT TATATATATATATATATTTTATATATA	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MPPED1_chr22_43407014_43512848	43496210	A A	AGTGGTGG others(98): Show AGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTGATGG TGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAG ATGGTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0134 a0001c0001t0004g0134	1	250	0.0040	105	c.633 others(122): Show c.633-1996_633-1995insAGTGGTGGTGGAGGTGATGGTGGAGGTA GTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGT GGTGGTGGAGATGGTGGTGGTGGAGGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496969	A A	AGTGGTGG others(98): Show AGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAAGTGGTGG TGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTG GAAGTG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	250	0.0040	105	c.633 others(122): Show c.633-1252_633-1251insGGTGGTGGTGGAGGTAGTGGTGGTGGAA GTGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGT GGTGGTGGAAGTGGTGGTGGTGGAGGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499837	A A	AGGTGGTG others(98): Show AGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTGGTGGTGATGGAGGTGGTGGTGGTGGCGGT GGTGAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02723.hp2 others(3): Show HG02559.hp2 HG02622.hp1 HG02723.hp2 HG02922.hp2 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0006 a0001c0003t0006 a0001c0003t0024 others(1): Show a0001c0001t0006 a0001c0003t0006 a0001c0003t0024 a0001c0007t0006	a0001c0001t0006g0026 a0001c0003t0006g0002 a0001c0003t0006g0004 others(3): Show a0001c0001t0006g0026 a0001c0003t0006g0002 a0001c0003t0006g0004 a0001c0003t0006g0005 a0001c0003t0024g0006 a0001c0007t0006g0190	6	250	0.0240	105	c.748 others(122): Show c.748+1500_748+1501insGTGGTGGTGATGGAGGTGGTGATGGGGG TGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGAGGTGGTGGTG GTGGCGGTGGTGATGGTGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATTTA others(98): Show TATATTTATATATATATATTTATATATATATATTTATATATATATATAAA TATATATATATATTTATATATATATACTTATATATATATATATTTATATA TATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03239.hp1 NA18966.hp1 others(2): Show HG02129.hp1 HG03239.hp1 NA18966.hp1 NA18973.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0002 a0001c0001t0003 a0001c0019t0002 a0001c0001t0002 a0001c0001t0003 a0001c0019t0002	a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0003g0061 others(2): Show a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0019t0002g0040	5	256	0.0195	105	c.242 others(124): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATATTTATATATATATATAAATA TATATATATAAATATATATATATAAATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATTTA others(98): Show TATATTTATATATATATATTTATATATATATATTTATATATATATATATA AATATATATATATTTATATATATATACTTATATATATATATATTTATATA TATATA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	256	0.0039	105	c.242 others(124): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATTTATATATATATATATAAATA TATATATATAAATATATATATATAAATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATTTA others(98): Show TATATTTATATATATATATTTATATATATATTTATATATATATATATAAA TATATATATATATTTATATATATATACTTATATATATATATATTTATATA TATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0056 a0001c0013t0001g0056	1	256	0.0039	105	c.242 others(124): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATATTTATATATATATATATAAA TATATATATAAATATATATATATAAATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATTTA others(98): Show TATATTTATATATATATATTTTTATATATATATTTATATATATATATAAA TATATATATATATTTATATATATATACTTATATATATATATATTTATATA TATATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	256	0.0039	105	c.242 others(124): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATATTTATATATATATATAAATA TATATATAAAAATATATATATATAAATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATTTA others(98): Show TATATTTATATATATATTTATATATATATATTTATATATATATATATAAA TATATATATATATTTATATATATATACTTATATATATATATATTTATATA TATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	256	0.0039	105	c.242 others(124): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATATTTATATATATATATATAAA TATATATATATAAATATATATATAAATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATTTATA others(98): Show TATTTATATATATATATTTATATATATATATTTATATATATATATATAAA TATATATATATATTTATATATATATACTTATATATATATATATTTATATA TATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	256	0.0039	105	c.242 others(124): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATATTTATATATATATATATAAA TATATATATATAAATATATATATATAAAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498277	T T	TATATATA others(98): Show TATATATATATATTTATATATATATATTTATATATATATATATAAATATA TATATATATTTATATATATATACTTATATATATATATATTTATATATATA TATATA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19090.hp1 NA18961.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0053 a0001c0001t0002g0054	2	256	0.0078	105	c.242 others(124): Show c.242-34992_242-34991insTATATATATATATATAAATATATATA TATATAAGTATATATATATAAATATATATATATATTTATATATATATATA TAAATATATATATATAAATATATATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498277	T T	TATATATA others(98): Show TATATATATATATTTATATATATATATTTATATATATATATATATAAATA TATATATATATTTATATATATATACTTATATATATATATATTTATATATA TATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03491.hp1 HG03492.hp2 others(1): Show HG00280.hp1 HG03491.hp1 HG03492.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0001t0005 a0001c0011t0005 a0001c0001t0002 a0001c0001t0005 a0001c0011t0005	a0001c0001t0002g0020 a0001c0001t0005g0043 a0001c0011t0005g0045 others(1): Show a0001c0001t0002g0020 a0001c0001t0005g0043 a0001c0011t0005g0045 a0001c0011t0005g0051	4	256	0.0156	105	c.242 others(124): Show c.242-34992_242-34991insTATATATATATATAAATATATATATA TATAAGTATATATATATAAATATATATATATATTTATATATATATATATA TAAATATATATATATAAATATATATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH4_chr1_75791882_75918242	75886347	T T	TAGCATGT others(98): Show TAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATA TGATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGT GTATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01074.hp2 others(9): Show HG00099.hp2 HG00323.hp1 HG01074.hp2 HG01099.hp2 HG02055.hp2 HG02809.hp1 HG02965.hp1 HG03139.hp2 HG04115.hp1 HG04204.hp2 NA18944.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0314 a0002c0003t0001g0087 a0002c0003t0001g0090 others(9): Show a0001c0002t0001g0314 a0002c0003t0001g0087 a0002c0003t0001g0090 a0002c0003t0001g0092 a0002c0003t0001g0094 a0002c0003t0001g0110 a0002c0003t0001g0113 a0002c0003t0001g0122 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0140 a0002c0003t0001g0155	12	332	0.0361	105	c.210 others(124): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGTGTATAG	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSLN_chr16_755734_773862	767808	C C	CGTGGAGG others(98): Show CGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	388	0.0026	105	c.159 others(122): Show c.1596+411_1596+412insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767850	A A	AGGAGGGG others(98): Show AGGAGGGGCGCGCGGAGGGGGGCGCGTGGAGGGGGCCGCGTGGAGGGGGG AGCGTGGGGGGGCGTGGGGGGGGGCGTGGAGGGGGGCGCGTGGAGGGGGG GCGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03139.hp2 HG01243.hp2 HG03139.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0006 a0010c0013t0006	a0010c0013t0006g0209 a0010c0013t0006g0210 a0010c0013t0006g0209 a0010c0013t0006g0210	2	388	0.0052	105	c.159 others(122): Show c.1596+382_1596+383insAGGGGCGCGCGGAGGGGGGCGCGTGGAG GGGGCCGCGTGGAGGGGGGAGCGTGGGGGGGCGTGGGGGGGGGCGTGGAG GGGGGCGCGTGGAGGGGGGGCGTGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767850	A A	AGGAGGGG others(98): Show AGGAGGGGCGCGCGGAGGGGGGCGCGTGGAGGGGGCCGCGTGGAGGGGGG AGCGTGGGGGGGGCGTGGGGGGGGCGTGGAGGGGGGCGCGTGGAGGGGGG GCGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0007 a0010c0013t0007	a0010c0013t0007g0208 a0010c0013t0007g0208	1	388	0.0026	105	c.159 others(122): Show c.1596+382_1596+383insAGGGGCGCGCGGAGGGGGGCGCGTGGAG GGGGCCGCGTGGAGGGGGGAGCGTGGGGGGGGCGTGGGGGGGGCGTGGAG GGGGGCGCGTGGAGGGGGGGCGTGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767972	G G	GGGGGGGC others(98): Show GGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAG GGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCGCGTGGGGG GGCGCA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0217 a0002c0003t0004g0217	1	388	0.0026	105	c.159 others(122): Show c.1597-407_1597-406insGGGGGGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGGGGCGCGTGGGGGGGCGCA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MSX2_chr5_174719582_174735896	174734352	T T	TAATTTAC others(98): Show TAATTTACCAGCGGCAACAGGCCAACTTAACAATTGTTTATTAGACTTGG TTTTTCACACAGGGCAAAGAATGCCGCTCCAAACCCAACTTTTCATGGGT GGTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	356	0.0028	105	c.47 others(116): Show c.4769_*4770insAATTTACCAGCGGCAACAGGCCAACTTAACAATT GTTTATTAGACTTGGTTTTTCACACAGGGCAAAGAATGCCGCTCCAAACC CAACTTTTCATGGGTGGTTGC	MSX2	ENSG00000120149.9	transcript	ENST00000239243.7	protein_coding		3457		chr5	TogoVar
MTHFD2_chr2_74193615_74222565	74203843	C C	CTAGTTTA others(98): Show CTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGT TTAGTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19088.hp1 NA18949.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0204 a0001c0001t0001g0120 a0001c0001t0001g0204	2	414	0.0048	105	c.102 others(122): Show c.102-1797_102-1796insTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAGTTTAG TTTAGTTTAGTTTAGTTTAGTTTAGTT	MTHFD2	ENSG00000065911.13	transcript	ENST00000394053.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195776054	C C	CCCATACC others(98): Show CCCATACCTTCCACGGCCATACCTTCCACACCCTTACCTTCCACACCCAT ACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTT CCACGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0059 a0059	a0059c0201 a0059c0201	a0059c0201t0009 a0059c0201t0009	a0059c0201t0009g0237 a0059c0201t0009g0237	1	249	0.0040	105	c.129 others(126): Show c.12944-1750_12944-1749insCCGTGGAAGGTATGGGTGTGGAAG GTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAAG GGTGTGGAAGGTATGGCCGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776130	C C	CCTTACCT others(98): Show CCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0078 a0078	a0078c0193 a0078c0193	a0078c0193t0003 a0078c0193t0003	a0078c0193t0003g0213 a0078c0193t0003g0213	1	249	0.0040	105	c.129 others(126): Show c.12944-1826_12944-1825insACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTAAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776250	C C	CCATACCT others(98): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03540.hp2 HG03834.hp2 HG01167.hp2 HG03540.hp2 HG03834.hp2	a0083 a0084 a0092 a0083 a0084 a0092	a0083c0190 a0084c0187 a0092c0183 a0083c0190 a0084c0187 a0092c0183	a0083c0190t0004 a0084c0187t0003 a0092c0183t0003 a0083c0190t0004 a0084c0187t0003 a0092c0183t0003	a0083c0190t0004g0241 a0084c0187t0003g0216 a0092c0183t0003g0205 a0083c0190t0004g0241 a0084c0187t0003g0216 a0092c0183t0003g0205	3	249	0.0121	105	c.129 others(126): Show c.12944-1946_12944-1945insACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776265	C C	CCATACCT others(98): Show CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02615.hp1 HG01261.hp1 HG02451.hp1 HG02615.hp1	a0057 a0079 a0088 a0057 a0079 a0088	a0057c0148 a0079c0192 a0088c0180 a0057c0148 a0079c0192 a0088c0180	a0057c0148t0008 a0079c0192t0004 a0088c0180t0003 a0057c0148t0008 a0079c0192t0004 a0088c0180t0003	a0057c0148t0008g0198 a0079c0192t0004g0242 a0088c0180t0003g0204 a0057c0148t0008g0198 a0079c0192t0004g0242 a0088c0180t0003g0204	3	249	0.0121	105	c.129 others(126): Show c.12944-1961_12944-1960insACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGGGTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776432	A A	ATACCTTC others(98): Show ATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCGCACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCG CACCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03942.hp1 HG01256.hp2 HG01258.hp1 HG03942.hp1	a0012 a0063 a0012 a0063	a0012c0020 a0063c0165 a0012c0020 a0063c0165	a0012c0020t0002 a0063c0165t0002 a0012c0020t0002 a0063c0165t0002	a0012c0020t0002g0011 a0012c0020t0002g0012 a0063c0165t0002g0027 a0012c0020t0002g0011 a0012c0020t0002g0012 a0063c0165t0002g0027	3	249	0.0121	105	c.129 others(126): Show c.12943+1870_12943+1871insAGGGTGCGGAAGGTATGGGTGTGG AAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTATGACTGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195776998	A A	ACCCATAC others(98): Show ACCCATACCTTCCACATCCATACCTTCCACACCCATACCTTCCACACCCA TACCTTCCACACCCATAACTTCCACACCCATACCTTCCACATCCATACCT TCCACG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03688.hp1 HG03834.hp2 HG01261.hp1 HG03688.hp1 HG03834.hp2	a0081 a0084 a0088 a0081 a0084 a0088	a0081c0189 a0084c0187 a0088c0180 a0081c0189 a0084c0187 a0088c0180	a0081c0189t0011 a0084c0187t0003 a0088c0180t0003 a0081c0189t0011 a0084c0187t0003 a0088c0180t0003	a0081c0189t0011g0206 a0084c0187t0003g0216 a0088c0180t0003g0204 a0081c0189t0011g0206 a0084c0187t0003g0216 a0088c0180t0003g0204	3	249	0.0121	105	c.129 others(126): Show c.12943+1304_12943+1305insCGTGGAAGGTATGGATGTGGAAGG TATGGGTGTGGAAGTTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGATGTGGAAGGTATGGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777045	C C	CCATAACT others(98): Show CCATAACTTCCACACCCATACCTTCCACATCCATACCTTCCACGGCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACATCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18974.hp1 NA19066.hp1 HG02155.hp2 NA18974.hp1 NA19066.hp1	a0007 a0015 a0007 a0015	a0007c0007 a0015c0023 a0007c0007 a0015c0023	a0007c0007t0003 a0015c0023t0003 a0007c0007t0003 a0015c0023t0003	a0007c0007t0003g0209 a0015c0023t0003g0210 a0015c0023t0003g0212 a0007c0007t0003g0209 a0015c0023t0003g0210 a0015c0023t0003g0212	3	249	0.0121	105	c.129 others(126): Show c.12943+1257_12943+1258insACTGTGGAAGGTATGGATGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTAT GGATGTGGAAGGTATGGGTGTGGAAGTTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777073	A A	ACCCATAC others(98): Show ACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCA TACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCT TCCACG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0107 a0107	a0107c0041 a0107c0041	a0107c0041t0001 a0107c0041t0001	a0107c0041t0001g0179 a0107c0041t0001g0179	1	249	0.0040	105	c.129 others(126): Show c.12943+1229_12943+1230insCGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGG GTGTGGAAGGTATGACTGTGGAAGGTATGGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777195	C C	CCTTACCT others(98): Show CCTTACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0003 a0016c0024t0003	a0016c0024t0003g0221 a0016c0024t0003g0221	1	249	0.0040	105	c.129 others(126): Show c.12943+1107_12943+1108insACTGTGGAAGGTATGGGTGTGGAA GGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGGTGTGGAAGGTAAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777238	A A	ACCCATAC others(98): Show ACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCA TACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACGGCCATACCT TCCACG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0048 a0048	a0048c0146 a0048c0146	a0048c0146t0004 a0048c0146t0004	a0048c0146t0004g0233 a0048c0146t0004g0233	1	249	0.0040	105	c.129 others(126): Show c.12943+1064_12943+1065insCGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGACTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777255	C C	CCATACCT others(98): Show CCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATA CCTTCCACAGTCATACCTTCCACAGTCATACCTTCCACGCCCATACCTTC CACAGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0052 a0052	a0052c0140 a0052c0140	a0052c0140t0002 a0052c0140t0002	a0052c0140t0002g0062 a0052c0140t0002g0062	1	249	0.0040	105	c.129 others(126): Show c.12943+1047_12943+1048insACTGTGGAAGGTATGGGCGTGGAA GGTATGACTGTGGAAGGTATGACTGTGGAAGGTATGACTGTGGAAGGTAT GGGTGTGGAAGGTATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777542	A A	ATACCTTC others(98): Show ATACCTTCCACATCCATACCTTCCACAGTCATACCTTCCACACCCATACC TTCCACATCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCA CACCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG02615.hp1 others(1): Show HG00741.hp2 HG01261.hp1 HG02615.hp1 HG02723.hp1	a0078 a0079 a0088 others(1): Show a0078 a0079 a0088 a0091	a0078c0193 a0079c0192 a0088c0180 others(1): Show a0078c0193 a0079c0192 a0088c0180 a0091c0181	a0078c0193t0003 a0079c0192t0004 a0088c0180t0003 others(1): Show a0078c0193t0003 a0079c0192t0004 a0088c0180t0003 a0091c0181t0003	a0078c0193t0003g0213 a0079c0192t0004g0242 a0088c0180t0003g0204 others(1): Show a0078c0193t0003g0213 a0079c0192t0004g0242 a0088c0180t0003g0204 a0091c0181t0003g0214	4	249	0.0161	105	c.129 others(124): Show c.12943+760_12943+761insAGGGTGTGGAAGGTATGGGTGTGGAA GGTATGGCCGTGGAAGGTATGGATGTGGAAGGTATGGGTGTGGAAGGTAT GACTGTGGAAGGTATGGATGTGGAAGGTA	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC4_chr3_195741771_195816929	195777809	C C	CCCATACC others(98): Show CCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCAT ACCTTCCACATCCATACCTTCCACGCCCATACCTTCCACGCCCATACCTT CCACAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0067 a0067	a0067c0194 a0067c0194	a0067c0194t0012 a0067c0194t0012	a0067c0194t0012g0239 a0067c0194t0012g0239	1	249	0.0040	105	c.129 others(124): Show c.12943+493_12943+494insATGTGGAAGGTATGGGCGTGGAAGGT ATGGGCGTGGAAGGTATGGATGTGGAAGGTATGACTGTGGAAGGTATGGG TGTGGAAGGTATGGGTGTGGAAGGTATGG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1166841	C C	CGATGAGA others(98): Show CGATGAGACCCTGCACCCAACACACAGTCTCCCCAAGATGAGACCCTGCA CCCGACACACAGTCTCTGCACGATGAGACCCTGCACCCAACACACAGTCT CCCCAA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19070.hp1 NA19091.hp1 NA18952.hp1 NA19070.hp1 NA19091.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0051 a0008c0012t0001g0052 a0008c0012t0001g0107 a0008c0012t0001g0051 a0008c0012t0001g0052 a0008c0012t0001g0107	3	292	0.0103	105	c.138 others(122): Show c.1387-878_1387-774dupGACACACAGTCTCTGCACGATGAGACCC TGCACCCAACACACAGTCTCCCCAAGATGAGACCCTGCACCCAACACACA GTCTCCCCAAGATGAGACCCTGCACCC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1166907	T T	TGCACGAT others(98): Show TGCACGATGAGACCCTGCACCCAACACACAGTCTCCCCAAGATGAGACCC TGCACCCAACACACAGTCTCCCCAAGATGAGACCCTGCACCCGACACACA GTCTCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0028 a0028	a0028c0082 a0028c0082	a0028c0082t0003 a0028c0082t0003	a0028c0082t0003g0045 a0028c0082t0003g0045	1	292	0.0034	105	c.138 others(122): Show c.1387-866_1387-865insCGCACGATGAGACCCTGCACCCAACACA CAGTCTCCCCAAGATGAGACCCTGCACCCAACACACAGTCTCCCCAAGAT GAGACCCTGCACCCGACACACAGTCTC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	11/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MXRA5_chrX_3303565_3351652	3341104	A A	ATATAATA others(98): Show ATATAATATAATATATTATACATAATATATATTATGTATAATATAATATA TTATACATAATATATATTATGTATAATATATTATATTATGCATAATATAT ATTATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0118 a0002c0002t0001g0118	1	284	0.0035	105	c.188 others(122): Show c.188+2541_188+2542insCATAATATATATTATGCATAATATAATA TATTATACATAATATATATTATGTATAATATATTATATTATACATAATAT ATATTATGTATAATATATTATATTATA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MYCL_chr1_39890428_39906917	39906069	C C	CTGGTTAA others(98): Show CTGGTTAATGTGTGTCTGTTCTGTAGAGATGCTGCTGCTTTTAGGGCTAA CAACTCTGGTTTCTAAGCTGGACCCAGGATGCTGATGAATTTACCAAGGT AACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	105	c.-46 others(116): Show c.-4636_-4635insTTTGTTACCTTGGTAAATTCATCAGCATCCTGGG TCCAGCTTAGAAACCAGAGTTGTTAGCCCTAAAAGCAGCAGCATCTCTAC AGAACAGACACACATTAACCA	MYCL	ENSG00000116990.12	transcript	ENST00000372816.3	protein_coding		4153		chr1	TogoVar
MYO1F_chr19_8515778_8582442	8543699	G G	GTGGTGCT others(98): Show GTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGT GGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGCTGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0013 a0001c0012t0013	a0001c0012t0013g0003 a0001c0012t0013g0003	1	342	0.0029	105	c.152 others(122): Show c.1524+597_1524+598insGCAGCACCACCACCACCACCACCACCAC CACCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCACCACCA GCACCACCACCACCACCACCAGCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543915	G G	GTGGTGGT others(98): Show GTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	342	0.0029	105	c.152 others(122): Show c.1524+381_1524+382insGCACCACCACCAGCACCACCACCACCAC CACCAGCACCACCAGCACCACCACCACCACCACCACCACCACCACCAGCA CCACCAGCACCACCAGCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8544008	G G	GTGGTGCT others(98): Show GTGGTGCTGGTGCTGGTGGTGGTGGTGGTGCTGGTGCTGGTGGTGGTGGT GGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGC TGGTGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	342	0.0029	105	c.152 others(122): Show c.1524+288_1524+289insGCACCAGCACCACCACCACCACCAGCAC CACCACCACCACCAGCACCACCACCACCACCACCACCACCAGCACCAGCA CCACCACCACCACCAGCACCAGCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYRFL_chr12_69820227_69964097	69891637	T T	TTCTCTTT others(98): Show TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTC CTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0313 a0007c0010t0003g0313	1	322	0.0031	105	c.903 others(120): Show c.903+472_903+473insCTCTTTCTTTCTTTCTTTCTTTCTTTCTCT TTCTTTCTTTCTTTCCTCCTTCCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTCTTTCTTTCTTTCT	MYRFL	ENSG00000166268.11	transcript	ENST00000552032.7	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGGTTAG others(98): Show CAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGT TAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGT TAGGTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	334	0.0030	105	c.54+ others(122): Show c.54+13169_54+13170insGTTAGGTTAGGTTAGGTTAGGTTAGGTT AGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTT AGGTTAGGTTAGGTTAGGTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 10000 hits)